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        European Bioinformatics Institute (EBI); Hinxton, United Kingdom
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Description: Controlled vocabulary of human diseases
Name:        humdisease.txt
Release:     2024_02 of 27-Mar-2024

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  This document lists the controlled vocabulary that is used for the
  annotation of human diseases in UniProtKB/Swiss-Prot.

  It follows the format below:

  ---------  ---------------------------     ------------------------------
  Line code  Content                         Occurrence in an entry
  ---------  ---------------------------     ------------------------------
  ID         Identifier                      Once; starts an entry
  AC         Accession (DI-xxxxx)            Once
  AR         Acronym                         Once
  DE         Definition                      Once or more
  SY         Alternative name(s)             Optional; once or more
  DR         Cross-reference(s)              Once or more
  KW         Associated keyword (accession)  Optional; Once or more
  //         Terminator                      Once; ends an entry

  Sources: OMIM, Scientific articles, Dorland's Medical Dictionary,
  Orphanet.

___________________________________________________________________________

ID   2,4-dienoyl-CoA reductase deficiency.
AC   DI-04240
AR   DECRD.
DE   A rare, autosomal recessive, inborn error of polyunsaturated fatty
DE   acids and lysine metabolism, resulting in mitochondrial dysfunction.
DE   Affected individuals have a severe encephalopathy with neurologic and
DE   metabolic abnormalities beginning in early infancy. Laboratory studies
DE   show increased C10:2 carnitine levels and hyperlysinemia.
DR   MIM; 616034; phenotype.
DR   MedGen; CN037048.
DR   MeSH; D020167.
DR   MeSH; D028361.
//
ID   3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.
AC   DI-00002
AR   HADH deficiency.
DE   An autosomal recessive, metabolic disorder with various clinical
DE   presentations including hypoglycemia, hepatoencephalopathy, myopathy
DE   or cardiomyopathy, and in some cases sudden death.
SY   HAD deficiency.
SY   Hydroxyacyl-coenzyme A dehydrogenase deficiency.
SY   SCHAD deficiency.
DR   MIM; 231530; phenotype.
DR   MedGen; C1291230.
DR   MeSH; D008659.
//
ID   3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
AC   DI-00003
AR   HMGCLD.
DE   An autosomal recessive disease affecting ketogenesis and L-leucine
DE   catabolism. The disease usually appears in the first year of life
DE   after a fasting period and its clinical acute symptoms include
DE   vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and
DE   lethargy. These symptoms sometimes progress to coma, with fatal
DE   outcome in some cases.
SY   HL deficiency.
SY   HMGCL deficiency.
SY   HMG-CoA lyase deficiency.
SY   Hydroxymethylglutaricaciduria.
SY   Hydroxymethylglutaric aciduria.
DR   MIM; 246450; phenotype.
DR   MedGen; C0268601.
DR   MeSH; D000592.
//
ID   3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency.
AC   DI-01751
AR   HMGCS2D.
DE   A metabolic disorder characterized by severe hypoketotic hypoglycemia,
DE   encephalopathy, and hepatomegaly.
SY   HMG-CoA synthase deficiency.
SY   HMGCS2 deficiency.
SY   HMGCS deficiency.
SY   Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.
SY   Mitochondrial HMG-CoA synthase deficiency.
DR   MIM; 605911; phenotype.
DR   MedGen; C2751532.
DR   MeSH; D007003.
DR   MeSH; D008661.
DR   MeSH; D028361.
//
ID   3-hydroxyisobutryl-CoA hydrolase deficiency.
AC   DI-01740
AR   HIBCHD.
DE   An autosomal recessive inborn error of valine metabolism. It causes
DE   severely delayed psychomotor development, neurodegeneration, increased
DE   lactic acid, and brain lesions in the basal ganglia.
SY   Beta-hydroxyisobutyryl CoA deacylase deficiency.
SY   Deficiency of beta-hydroxyisobutyryl CoA deacylase.
SY   HIBCH deficiency.
SY   Methacrylic acid toxicity.
SY   Methacrylic aciduria.
SY   Valine metabolic defect.
DR   MIM; 250620; phenotype.
DR   MedGen; C0342738.
DR   MeSH; D000592.
//
ID   3-ketothiolase deficiency.
AC   DI-00009
AR   3KTD.
DE   An autosomal recessive inborn error of isoleucine catabolism
DE   characterized by intermittent ketoacidotic attacks associated with
DE   unconsciousness. Some patients die during an attack or are mentally
DE   retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-
DE   methylacetoacetic acid, triglylglycine, butanone is increased. It
DE   seems likely that the severity of this disease correlates better with
DE   the environmental or acquired factors than with the ACAT1 genotype.
SY   Alpha-methylacetoaceticaciduria.
DR   MIM; 203750; phenotype.
DR   MedGen; C1536500.
DR   MeSH; D000592.
//
ID   3-methylcrotonoyl-CoA carboxylase 1 deficiency.
AC   DI-00742
AR   MCC1D.
DE   An autosomal recessive disorder of leucine catabolism. The phenotype
DE   is variable, ranging from neonatal onset with severe neurological
DE   involvement to asymptomatic adults. There is a characteristic organic
DE   aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-
DE   methylcrotonylglycine, usually in combination with a severe secondary
DE   carnitine deficiency.
SY   3-methylcrotonylglycinuria type I.
SY   MCC1 deficiency.
SY   MCCD type 1.
SY   MCGI.
SY   Methylcrotonylglycinuria type I.
DR   MIM; 210200; phenotype.
DR   MedGen; C0268600.
DR   MedGen; CN028786.
DR   MeSH; D000592.
//
ID   3-methylcrotonoyl-CoA carboxylase 2 deficiency.
AC   DI-00743
AR   MCC2D.
DE   An autosomal recessive disorder of leucine catabolism. The phenotype
DE   is variable, ranging from neonatal onset with severe neurological
DE   involvement to asymptomatic adults. There is a characteristic organic
DE   aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-
DE   methylcrotonylglycine, usually in combination with a severe secondary
DE   carnitine deficiency.
SY   3-methylcrotonylglycinuria type II.
SY   MCC2 deficiency.
SY   MCGII.
SY   Methylcrotonylglycinuria type II.
DR   MIM; 210210; phenotype.
DR   MedGen; C1859499.
DR   MeSH; D000592.
//
ID   3-methylglutaconic aciduria 1.
AC   DI-00004
AR   MGCA1.
DE   An inborn error of leucine metabolism. It leads to an autosomal
DE   recessive syndrome with variable clinical phenotype, ranging from
DE   delayed speech development to severe psychomotor retardation, coma,
DE   failure to thrive, metabolic acidosis and dystonia. MGCA1 can be
DE   distinguished from other forms of MGCA by the pattern of metabolite
DE   excretion: 3-methylglutaconic acid levels are higher than those
DE   detected in other forms, whereas methylglutaric acid levels are
DE   usually only slightly elevated and there is a high level of 3-
DE   hydroxyisovaleric acid excretion (not present in other MGCA forms).
SY   3-alpha-methylglutaconic aciduria type 1.
SY   3-alpha-methylglutaconyl-CoA hydratase deficiency.
SY   3-methylglutaconyl-CoA hydratase deficiency.
SY   3MG-CoA hydratase deficiency.
SY   MGA1.
SY   MGA type I.
DR   MIM; 250950; phenotype.
DR   MedGen; C0342727.
DR   MeSH; D000592.
//
ID   3-methylglutaconic aciduria 3.
AC   DI-00006
AR   MGCA3.
DE   An autosomal recessive metabolic disorder that causes a neuro-
DE   ophthalmologic syndrome consisting of early-onset bilateral optic
DE   atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit.
DE   Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid
DE   is increased. MGCA3 can be distinguished from MGCA1 by the absence of
DE   increase of 3-hydroxyisovaleric acid levels.
SY   3-alpha-methylglutaconic aciduria type 3.
SY   Costeff optic atrophy syndrome.
SY   Costeff syndrome.
SY   MGA3.
SY   MGA type III.
SY   Optic atrophy 3 autosomal recessive.
SY   Optic atrophy plus syndrome.
DR   MIM; 258501; phenotype.
DR   MedGen; C0574084.
DR   MeSH; D015418.
//
ID   3-methylglutaconic aciduria 5.
AC   DI-00007
AR   MGCA5.
DE   An autosomal recessive disorder characterized by early-onset dilated
DE   cardiomyopathy, growth failure, cerebellar ataxia causing significant
DE   motor delays, testicular dysgenesis, growth failure and significant
DE   increases in urine organic acids, particularly 3-methylglutaconic acid
DE   and 3-methylglutaric acid.
SY   3-alpha-methylglutaconic aciduria type 5.
SY   DCMA.
SY   Dilated cardiomyopathy with ataxia.
SY   MGA5.
SY   MGA type V.
DR   MIM; 610198; phenotype.
DR   MedGen; C1857776.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   3-methylglutaconic aciduria 7A.
AC   DI-06387
AR   MGCA7A.
DE   An autosomal dominant inborn error of metabolism with a highly
DE   variable phenotype. Primary disease symptoms are increased levels of
DE   3-methylglutaconic acid, neurologic deterioration and neutropenia.
DE   Other common features include progressive encephalopathy, movement
DE   abnormalities, delayed psychomotor development, impaired intellectual
DE   development, cataracts, seizures, and recurrent infections.
SY   3-methylglutaconic aciduria, type VIIA, autosomal dominant.
SY   3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant.
DR   MIM; 619835; phenotype.
DR   MedGen; CN308208.
DR   MeSH; D008661.
KW   KW-0887:Epilepsy.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   3-methylglutaconic aciduria 7B.
AC   DI-04365
AR   MGCA7B.
DE   An autosomal recessive inborn error of metabolism with a highly
DE   variable phenotype. Primary disease symptoms are increased levels of
DE   3-methylglutaconic acid, neurologic deterioration and neutropenia.
DE   Other common features include progressive encephalopathy, movement
DE   abnormalities, delayed psychomotor development,impaired intellectual
DE   development, cataracts, seizures, and recurrent infections.
SY   3-methylglutaconic aciduria, type VII.
SY   3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.
SY   3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia.
SY   MEGCANN.
SY   MGCA7.
DR   MIM; 616271; phenotype.
DR   MedGen; CN228597.
DR   MeSH; D008661.
KW   KW-0887:Epilepsy.
KW   KW-0898:Cataract.
//
ID   3-methylglutaconic aciduria 8.
AC   DI-04904
AR   MGCA8.
DE   An autosomal recessive inborn error of metabolism resulting in early
DE   death. Clinical features include extreme hypertonia observed at birth,
DE   alternating with hypotonia, subsequent appearance of extrapyramidal
DE   symptoms, lack of psychomotor development, microcephaly, and
DE   intractable seizures. Patients show lactic acidemia, 3-
DE   methylglutaconic aciduria, intermittent neutropenia, and progressive
DE   brain atrophy.
SY   3-methylglutaconic aciduria, type VII.
DR   MIM; 617248; phenotype.
DR   MedGen; CN239573.
DR   MeSH; D008661.
KW   KW-0887:Epilepsy.
//
ID   3-methylglutaconic aciduria 9.
AC   DI-05109
AR   MGCA9.
DE   An autosomal recessive disease characterized by early-onset seizures,
DE   severely delayed psychomotor development and intellectual disability.
DE   Patients have hypotonia or spasticity, and laboratory investigations
DE   show increased serum lactate and 3-methylglutaconic aciduria.
SY   3-methylglutaconic aciduria, type IX.
DR   MIM; 617698; phenotype.
DR   MedGen; CN510468.
DR   MeSH; D008661.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.
AC   DI-03495
AR   MEGDEL.
DE   An autosomal recessive disorder characterized by childhood onset of
DE   delayed psychomotor development or psychomotor regression,
DE   sensorineural deafness, spasticity or dystonia, and increased
DE   excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and
DE   cerebellar atrophy as well as lesions in the basal ganglia reminiscent
DE   of Leigh syndrome. Laboratory studies show increased serum lactate and
DE   alanine, mitochondrial oxidative phosphorylation defects, abnormal
DE   mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles
DE   in fibroblasts, and abnormal accumulation of unesterified cholesterol
DE   within cells.
SY   3-methylglutaconic aciduria, type VI.
SY   3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome.
SY   MEGDHEL.
SY   MGCA6.
DR   MIM; 614739; phenotype.
DR   MedGen; C3553597.
DR   MedGen; CN130585.
DR   MeSH; D008661.
KW   KW-0209:Deafness.
//
ID   3M syndrome 1.
AC   DI-00011
AR   3M1.
DE   An autosomal recessive disorder characterized by severe pre- and
DE   postnatal growth retardation, facial dysmorphism, large head
DE   circumference, and normal intelligence and endocrine function.
DE   Skeletal changes include long slender tubular bones and tall vertebral
DE   bodies.
SY   3M syndrome-1.
SY   Dolichospondylic dysplasia.
SY   Gloomy face syndrome.
SY   Le Merrer syndrome.
SY   Miller-McKusick-Malvaux syndrome.
SY   Three M syndrome.
SY   Three M syndrome 1.
SY   Yakut short stature syndrome.
DR   MIM; 273750; phenotype.
DR   MedGen; C1848862.
DR   MedGen; C2678312.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   3M syndrome 2.
AC   DI-02472
AR   3M2.
DE   An autosomal recessive disorder characterized by severe pre- and
DE   postnatal growth retardation, facial dysmorphism, large head
DE   circumference, and normal intelligence and endocrine function.
DE   Skeletal changes include long slender tubular bones and tall vertebral
DE   bodies.
SY   3M syndrome-2.
SY   Three M syndrome 2.
DR   MIM; 612921; phenotype.
DR   MedGen; C2752041.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   3M syndrome 3.
AC   DI-03220
AR   3M3.
DE   A disorder characterized by poor postnatal growth and distinctive
DE   facial features, including triangular facies, frontal bossing, fleshy
DE   tipped nose, and fleshy lips. Other features may include skeletal
DE   anomalies and prominent heels.
SY   3M syndrome-3.
SY   Three M syndrome 3.
DR   MIM; 614205; phenotype.
DR   MedGen; C3280146.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   3MC syndrome 1.
AC   DI-03129
AR   3MC1.
DE   A form of 3MC syndrome, an autosomal recessive disorder characterized
DE   by facial dysmorphism, craniosynostosis, learning disability, and
DE   genital, limb and vesicorenal anomalies. Facial features include
DE   hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE   eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE   Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY   Craniosynostosis with lid anomalies.
SY   Michels syndrome.
SY   Oculopalatoskeletal syndrome.
DR   MIM; 257920; phenotype.
DR   MedGen; C0796059.
DR   MeSH; D003398.
DR   MeSH; D005141.
//
ID   3MC syndrome 2.
AC   DI-03130
AR   3MC2.
DE   A form of 3MC syndrome, an autosomal recessive disorder characterized
DE   by facial dysmorphism, craniosynostosis, learning disability, and
DE   genital, limb and vesicorenal anomalies. Facial features include
DE   hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE   eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE   Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY   Carnevale Krajewska Fischetto syndrome.
SY   Carnevale syndrome.
SY   Oculo-skeletal-abdominal syndrome.
SY   OSA syndrome.
SY   Ptosis of eyelids with diastasis recti and hip dysplasia.
DR   MIM; 265050; phenotype.
DR   MedGen; C0796279.
DR   MeSH; D003398.
DR   MeSH; D005141.
//
ID   3MC syndrome 3.
AC   DI-04982
AR   3MC3.
DE   A form of 3MC syndrome, an autosomal recessive disorder characterized
DE   by facial dysmorphism, craniosynostosis, learning disability, and
DE   genital, limb and vesicorenal anomalies. Facial features include
DE   hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE   eyebrows, cleft lip and/or palate. The term 3MC syndrome includes
DE   Carnevale, Mingarelli, Malpuech, and Michels syndromes.
SY   Facial clefting syndrome Gypsy type.
SY   Malpuech facial clefting syndrome.
SY   Malpuech syndrome.
DR   MIM; 248340; phenotype.
DR   MedGen; C0796032.
DR   MeSH; D003398.
DR   MeSH; D005141.
//
ID   46,XX sex reversal 1.
AC   DI-02395
AR   SRXX1.
DE   A condition in which male gonads develop in a genetic female (female
DE   to male sex reversal).
SY   46,XX gonadal dysgenesis complete SRY-positive.
SY   46,XX sex reversal SRY-positive.
SY   46,XX testicular disorder of sex development.
SY   46,XX true hermaphroditism SRY-positive.
SY   Ovotesticular disorder of sex development.
SY   Ovotesticular DSD.
SY   XX male SRY-positive.
DR   MIM; 400045; phenotype.
DR   MedGen; C2748895.
DR   MedGen; C3495659.
DR   MeSH; D023961.
DR   MeSH; D050090.
//
ID   46,XX sex reversal 2.
AC   DI-03053
AR   SRXX2.
DE   A condition in which male gonads develop in a genetic female (female
DE   to male sex reversal).
SY   46,XX sex reversal partial or complete SOX9-related.
DR   MIM; 278850; phenotype.
DR   MedGen; C2749215.
DR   MeSH; D058531.
//
ID   46,XX sex reversal 3.
AC   DI-03008
AR   SRXX3.
DE   A condition in which male gonads develop in a genetic female (female
DE   to male sex reversal).
SY   46,XX male sex reversal SOX3-related.
DR   MIM; 300833; phenotype.
DR   MedGen; C3151782.
DR   MedGen; C3151783.
DR   MeSH; D058531.
//
ID   46,XX sex reversal 4.
AC   DI-05002
AR   SRXX4.
DE   A condition in which male gonads develop in a genetic female (female
DE   to male sex reversal).
SY   46,XX sex reversal SRY-negative.
DR   MIM; 617480; phenotype.
DR   MedGen; CN244002.
DR   MeSH; D058531.
//
ID   46,XX sex reversal 5.
AC   DI-05853
AR   SRXX5.
DE   A condition in which male gonads develop in a genetic female (female
DE   to male sex reversal). Additional features in SRXX5 patients are
DE   congenital heart disease, congenital diaphragmatic hernia, and
DE   blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5
DE   inheritance is autosomal dominant.
DR   MIM; 618901; phenotype.
DR   MedGen; CN281159.
DR   MeSH; D058531.
//
ID   46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs.
AC   DI-01613
AR   SERKAL.
DE   A disease characterized by the association of female-to-male sex
DE   reversal with dysgenesis of kidneys, adrenals, and lungs.
SY   SERKAL syndrome.
DR   MIM; 611812; phenotype.
DR   MedGen; C2678492.
DR   MeSH; D058531.
//
ID   46,XY gonadal dysgenesis with minifascicular neuropathy.
AC   DI-02146
AR   GDMN.
DE   An autosomal recessive disorder characterized by gonadal dysgenesis
DE   associated with polyneuropathy. Genital anomalies include the presence
DE   of a testis on one side and a streak or an absent gonad at the other,
DE   persistence of Muellerian duct structures, and a variable degree of
DE   genital ambiguity.
DR   MIM; 607080; phenotype.
DR   MedGen; C2751325.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 1.
AC   DI-01682
AR   SRXY1.
DE   A condition characterized by male-to-female sex reversal in the
DE   presence of a normal 46,XY karyotype. Patients manifest rapid and
DE   early degeneration of their gonads, which are present in the adult as
DE   'streak gonads', consisting mainly of fibrous tissue and variable
DE   amounts of ovarian stroma. As a result these patients do not develop
DE   secondary sexual characteristics at puberty. The external genitalia in
DE   these subjects are completely female, and Muellerian structures are
DE   normal.
SY   46,XY gonadal dysgenesis complete SRY-related.
SY   46,XY sex reversal SRY-related.
SY   46,XY true hermaphroditism SRY-related.
SY   Gonadal dysgenesis XY female type.
SY   Swyer syndrome.
SY   XY females.
DR   MIM; 400044; phenotype.
DR   MedGen; C2748896.
DR   MedGen; C2748897.
DR   MedGen; C2748898.
DR   MedGen; C2748899.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 10.
AC   DI-04458
AR   SRXY10.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype, show gonadal dysgenesis with streak gonads, look like
DE   normal females at birth, do not develop secondary sexual
DE   characteristics at puberty and do not menstruate.
SY   Chromosome 17q24 deletion syndrome.
DR   MIM; 616425; phenotype.
DR   MedGen; CN231316.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 11.
AC   DI-05803
AR   SRXY11.
DE   An autosomal dominant disorder of sex development. Affected
DE   individuals have a 46,XY karyotype and a genital phenotype that may
DE   range from predominantly female to predominantly male, including
DE   marked sex ambiguity. Approximately half of patients present with
DE   micropenis and bilateral or unilateral cryptorchidism, and half
DE   present with female-appearing or ambiguous external genitalia.
SY   Anorchia, familial.
SY   Testicular regression, embryonic.
SY   Testicular regression syndrome.
SY   TRS.
SY   XY gonadal agenesis/dysgenesis syndrome.
DR   MIM; 273250; phenotype.
DR   MedGen; C0266427.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 2.
AC   DI-02751
AR   SRXY2.
DE   A condition characterized by male-to-female sex reversal in the
DE   presence of a normal 46,XY karyotype.
SY   46,XY sex reversal DAX1-related.
SY   Dosage-sensitive sex reversal.
SY   DSS.
DR   MIM; 300018; phenotype.
DR   MedGen; C1848296.
DR   MeSH; D058490.
//
ID   46,XY sex reversal 3.
AC   DI-02465
AR   SRXY3.
DE   A condition characterized by male-to-female sex reversal in the
DE   presence of a normal 46,XY karyotype.
SY   46,XY disorder of sex development.
SY   46,XY sex reversal partial or complete NR5A1-related.
SY   Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure.
SY   XY sex reversal with or without adrenal failure.
DR   MIM; 612965; phenotype.
DR   MedGen; C2751824.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 4.
AC   DI-03328
AR   SRXY4.
DE   A condition characterized by male-to-female sex reversal in the
DE   presence of a normal 46,XY karyotype. Patients display complete or
DE   partial gonadal dysgenesis and a chromosome 9p deletion.
SY   46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion.
SY   Chromosome 9p24.3 deletion syndrome.
DR   MIM; 154230; phenotype.
DR   MedGen; C2752149.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 5.
AC   DI-02807
AR   SRXY5.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype but present as phenotypically normal females.
SY   46,XY gonadal dysgenesis complete CBX2-related.
SY   46,XY sex reversal CBX2-related.
SY   Disorder of sex development 46,XY CBX2-related.
SY   Sex reversal XY CBX2-related.
DR   MIM; 613080; phenotype.
DR   MedGen; C2751317.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 6.
AC   DI-03052
AR   SRXY6.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype but present as phenotypically normal females.
SY   46,XY gonadal dysgenesis partial or complete MAP3K1-related.
SY   46,XY sex reversal partial or complete MAP3K1-related.
DR   MIM; 613762; phenotype.
DR   MedGen; C3151064.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 7.
AC   DI-01379
AR   SRXY7.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype but present as phenotypically normal females. SRXY7 patients
DE   have no functional gonads.
SY   46,XY gonadal dysgenesis, partial or complete, DHH-related.
SY   46,XY sex reversal, partial or complete, DHH-related.
SY   Complete pure gonadal dysgenesis 46,XY type.
SY   GDXYM.
SY   Male-limited gonadal dysgenesis 46,XY.
DR   MIM; 233420; phenotype.
DR   MedGen; C1856273.
DR   MedGen; CN068862.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 8.
AC   DI-03279
AR   SRXY8.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype but present as phenotypically normal females.
SY   Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase.
SY   TDD.
DR   MIM; 614279; phenotype.
DR   MedGen; C1839840.
DR   MeSH; D006061.
//
ID   46,XY sex reversal 9.
AC   DI-04251
AR   SRXY9.
DE   A disorder of sex development. Affected individuals have a 46,XY
DE   karyotype but present as phenotypically normal females or have
DE   ambiguous external genitalia.
SY   46,XY sex reversal, ZFPM2-related.
DR   MIM; 616067; phenotype.
DR   MedGen; CN220529.
DR   MeSH; D006061.
//
ID   5-oxoprolinase deficiency.
AC   DI-03412
AR   OPLAHD.
DE   A disorder characterized by calcium oxalate/carbonate urolithiasis,
DE   and excessive urinary 5-oxo-L-proline. Affected individuals have
DE   recurrent episodes of vomiting, diarrhea, and abdominal pain.
SY   Oxoprolinuria due to oxoprolinase deficiency.
DR   MIM; 260005; phenotype.
DR   MedGen; C0268525.
DR   MeSH; D000592.
//
ID   Aaland island eye disease.
AC   DI-01163
AR   AIED.
DE   A retinal disease characterized by a combination of fundus
DE   hypopigmentation, decreased visual acuity due to foveal hypoplasia,
DE   nystagmus, astigmatism, protan color vision defect, myopia, and
DE   defective dark adaptation. Except for progression of axial myopia, the
DE   disease can be considered to be a stationary condition.
DE   Electroretinography reveals abnormalities in both photopic and
DE   scotopic functions.
SY   Aland island eye disease.
SY   Forsius-Eriksson type ocular albinism.
DR   MIM; 300600; phenotype.
DR   MedGen; C0268505.
DR   MeSH; D014786.
//
ID   Aarskog-Scott syndrome.
AC   DI-00012
AR   AAS.
DE   An X-linked recessive, rare multisystemic disorder characterized by
DE   disproportionately short stature, and by facial, skeletal and
DE   urogenital anomalies. Some patients manifest intellectual disability,
DE   attention deficit disorder and hyperactivity.
SY   Faciodigitogenital syndrome.
SY   Faciogenital dysplasia.
SY   Faciogenital dysplasia with attention deficit-hyperactivity disorder.
DR   MIM; 305400; phenotype.
DR   MedGen; C0175701.
DR   MedGen; C1844569.
DR   MedGen; C3275558.
DR   MedGen; CN069557.
DR   MeSH; D001289.
//
ID   ABCD syndrome.
AC   DI-00013
AR   ABCDS.
DE   An autosomal recessive syndrome characterized by albinism, black lock
DE   at temporal occipital region, bilateral deafness, aganglionosis of the
DE   large intestine and total absence of neurocytes and nerve fibers in
DE   the small intestine.
SY   Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness.
DR   MIM; 600501; phenotype.
DR   MedGen; C1838099.
DR   MedGen; C3179507.
DR   MeSH; D014849.
KW   KW-0015:Albinism.
KW   KW-0209:Deafness.
KW   KW-0367:Hirschsprung disease.
//
ID   Abdominal obesity-metabolic syndrome 3.
AC   DI-04090
AR   AOMS3.
DE   A form of abdominal obesity-metabolic syndrome, a disorder
DE   characterized by abdominal obesity, high triglycerides, low levels of
DE   high density lipoprotein cholesterol, high blood pressure, and
DE   elevated fasting glucose levels. AOMS3 is characterized by early-onset
DE   coronary artery disease, central obesity, hypertension, and diabetes.
SY   Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease.
DR   MIM; 615812; phenotype.
DR   MedGen; CN188185.
DR   MeSH; D024821.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
//
ID   Abdominal obesity-metabolic syndrome 4.
AC   DI-05676
AR   AOMS4.
DE   A form of abdominal obesity-metabolic syndrome, a disorder
DE   characterized by abdominal obesity, high triglycerides, low levels of
DE   high density lipoprotein cholesterol, high blood pressure, and
DE   elevated fasting glucose levels. AOMS4 is an autosomal dominant
DE   disease. Patients manifest obesity, hypertension, early-onset coronary
DE   artery disease and type 2 diabetes.
DR   MIM; 618620; phenotype.
DR   MedGen; C5231430.
DR   MeSH; D024821.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
//
ID   Abetalipoproteinemia.
AC   DI-00014
AR   ABL.
DE   An autosomal recessive disorder of lipoprotein metabolism. Affected
DE   individuals produce virtually no circulating apolipoprotein B-
DE   containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)).
DE   Malabsorption of the antioxidant vitamin E occurs, leading to
DE   spinocerebellar and retinal degeneration.
SY   Acanthocytosis.
SY   Bassen-Kornzweig syndrome.
SY   Microsomal triglyceride transfer protein deficiency.
SY   MTP deficiency.
DR   MIM; 200100; phenotype.
DR   MedGen; C0000744.
DR   MeSH; D000012.
//
ID   Ablepharon-macrostomia syndrome.
AC   DI-04542
AR   AMS.
DE   A congenital ectodermal dysplasia characterized by absent eyelids,
DE   macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose
DE   and ears, variable abnormalities of the nipples, genitalia, fingers,
DE   and hands, largely normal intellectual and motor development, and poor
DE   growth.
DR   MIM; 200110; phenotype.
DR   MedGen; C1860224.
DR   MeSH; D005124.
DR   MeSH; D008265.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Abnormal hair, joint laxity, and developmental delay.
AC   DI-05602
AR   HJDD.
DE   An autosomal recessive disease characterized by abnormal hair,
DE   cognitive delay, speech articulation disorder, and increased joint
DE   mobility. At birth patients have normal hair that gradually becomes
DE   sparse, twisted, brittle, and easily broken, with pili torti and
DE   trichorrhexis nodosa.
SY   Pili torti and developmental delay.
DR   MIM; 261990; phenotype.
DR   MedGen; C1849811.
DR   MeSH; D002658.
DR   MeSH; D006201.
//
ID   Abruzzo-Erickson syndrome.
AC   DI-03763
AR   ABERS.
DE   A disease characterized by cleft palate, coloboma, hypospadias,
DE   deafness, short stature, and radial synostosis.
SY   X-linked Charge-like syndrome.
DR   MIM; 302905; phenotype.
DR   MedGen; C1844862.
DR   MeSH; D006314.
DR   MeSH; D017880.
DR   MeSH; D019767.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
//
ID   Acatalasemia.
AC   DI-00016
AR   ACATLAS.
DE   A metabolic disorder characterized by a total or near total loss of
DE   catalase activity in red cells. It is often associated with ulcerating
DE   oral lesions. Acatalasemia is inherited as an autosomal recessive
DE   trait.
SY   Acatalasia.
SY   Catalase deficiency.
SY   Takahara's disease.
SY   Takahara disease.
DR   MIM; 614097; phenotype.
DR   MedGen; C0268419.
DR   MeSH; D020642.
//
ID   ACCES syndrome.
AC   DI-06471
AR   ACCES.
DE   An autosomal dominant syndrome characterized by a highly variable
DE   phenotypic spectrum. Clinical features include aplasia cutis
DE   congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly,
DE   and skeletal and neurodevelopmental abnormalities. Craniofacial,
DE   cardiac, renal and genital anomalies have also been reported. Affected
DE   individuals have early growth deficiencies that improve with age.
SY   Aplasia cutis congenita with ectrodactyly skeletal syndrome.
DR   MIM; 619959; phenotype.
DR   MedGen; CN315802.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Aceruloplasminemia.
AC   DI-00017
AR   ACERULOP.
DE   An autosomal recessive disorder of iron metabolism characterized by
DE   iron accumulation in the brain as well as visceral organs. Clinical
DE   features consist of the triad of retinal degeneration, diabetes
DE   mellitus and neurological disturbances.
DR   MIM; 604290; phenotype.
DR   MedGen; C0878682.
DR   MedGen; C1858582.
DR   MedGen; C1858583.
DR   MeSH; D019189.
//
ID   Acetyl-CoA carboxylase 1 deficiency.
AC   DI-01164
AR   ACACAD.
DE   An inborn error of de novo fatty acid synthesis associated with severe
DE   brain damage, persistent myopathy and poor growth.
SY   ACACA deficiency.
SY   ACAC deficiency.
SY   ACC1 deficiency.
SY   ACC deficiency.
DR   MIM; 613933; phenotype.
DR   MedGen; C0268603.
DR   MeSH; D008052.
//
ID   Achalasia-addisonianism-alacrima syndrome.
AC   DI-00018
AR   AAAS.
DE   An autosomal recessive disorder characterized by adreno-corticotropic
DE   hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal
DE   cardia and alacrima. The syndrome is associated with variable and
DE   progressive neurological impairment involving the central, peripheral,
DE   and autonomic nervous system. Other features such as palmoplantar
DE   hyperkeratosis, short stature, facial dysmorphy and osteoporosis may
DE   also be present.
SY   ACTH-resistant adrenal insufficiency with achalasia and alacrima.
SY   Addisonian-achalasia syndrome.
SY   Alacrima-achalasia-addisonianism.
SY   Alacrima-achalasia-adrenal insufficiency neurologic disorder.
SY   Allgrove's syndrome.
SY   Allgrove syndrome.
SY   Glucocorticoid deficiency and achalasia.
SY   Hypoadrenalism with achalasia.
SY   Triple-A syndrome.
DR   MIM; 231550; phenotype.
DR   MedGen; C0271742.
DR   MedGen; C1856419.
DR   MedGen; C2931084.
DR   MeSH; D000309.
//
ID   Acheiropody.
AC   DI-01165
AR   ACHP.
DE   Very rare condition characterized by bilateral congenital amputations
DE   of the hands and feet. The specific malformative phenotype consists of
DE   a complete amputation of the distal epiphysis of the humerus,
DE   amputation of the tibial diaphysis and aplasia of the radius, ulna,
DE   fibula and of all the bones of the hands and feet.
SY   Acheiropodia.
SY   Acheiropody Brazilian type.
DR   MIM; 200500; phenotype.
DR   MedGen; C0265559.
DR   MeSH; D005532.
DR   MeSH; D006228.
//
ID   Achondrogenesis 1A.
AC   DI-02719
AR   ACG1A.
DE   A form of achondrogenesis type 1, a lethal form of chondrodysplasia
DE   characterized by deficient ossification in the lumbar vertebrae and
DE   absent ossification in the sacral, pubic and ischial bones and
DE   clinically by stillbirth or early death. In addition to severe
DE   micromelia, there is a disproportionately large cranium due to marked
DE   edema of soft tissues.
SY   ACG-IA.
SY   Achondrogenesis Houston-Harris type.
SY   Achondrogenesis type IA.
DR   MIM; 200600; phenotype.
DR   MedGen; C0265273.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Achondrogenesis 1B.
AC   DI-00019
AR   ACG1B.
DE   A form of achondrogenesis type 1, a lethal form of chondrodysplasia
DE   characterized by deficient ossification in the lumbar vertebrae and
DE   absent ossification in the sacral, pubic and ischial bones and
DE   clinically by stillbirth or early death. In addition to severe
DE   micromelia, there is a disproportionately large cranium due to marked
DE   edema of soft tissues. ACG1B is an autosomal recessive disease.
SY   ACG-IB.
SY   Achondrogenesis Fraccaro type.
SY   Achondrogenesis type IB.
SY   Fraccaro achondrogenesis.
DR   MIM; 600972; phenotype.
DR   MedGen; C0265274.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Achondrogenesis 2.
AC   DI-00020
AR   ACG2.
DE   An autosomal dominant disease characterized by the absence of
DE   ossification in the vertebral column, sacrum and pubic bones.
SY   ACG-II.
SY   Achondrogenesis-hypochondrogenesis type II.
SY   Achondrogenesis Langer-Saldino type.
SY   Achondrogenesis type II.
DR   MIM; 200610; phenotype.
DR   MedGen; C0220685.
DR   MedGen; C0542428.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Achondroplasia.
AC   DI-00021
AR   ACH.
DE   A frequent form of short-limb dwarfism. It is characterized by a long,
DE   narrow trunk, short extremities, particularly in the proximal
DE   (rhizomelic) segments, a large head with frontal bossing, hypoplasia
DE   of the midface and a trident configuration of the hands. ACH is an
DE   autosomal dominant disease.
DR   MIM; 100800; phenotype.
DR   MedGen; C0001080.
DR   MeSH; D000130.
KW   KW-0242:Dwarfism.
//
ID   Achondroplasia, severe, with developmental delay and acanthosis nigricans.
AC   DI-04490
AR   SADDAN.
DE   A severe form of achondroplasia associated with developmental delay
DE   and acanthosis nigricans. Patients manifest short-limb dwarfism, with
DE   a long, narrow trunk, short extremities, particularly in the proximal
DE   (rhizomelic) segments, a large head with frontal bossing, hypoplasia
DE   of the midface and a trident configuration of the hands. Acanthosis
DE   nigricans is a skin condition characterized by brown-pigmented,
DE   velvety verrucosities in body folds and creases.
SY   SADDAN dysplasia.
DR   MIM; 616482; phenotype.
DR   MedGen; CN231689.
DR   MeSH; D000130.
KW   KW-0242:Dwarfism.
//
ID   Achromatopsia 2.
AC   DI-00022
AR   ACHM2.
DE   An autosomal recessive, ocular stationary disorder due to the absence
DE   of functioning cone photoreceptors in the retina. It is characterized
DE   by total colorblindness, low visual acuity, photophobia and nystagmus.
SY   Complete achromatopsia.
SY   RMCH2.
SY   Rod monochromacy 2.
SY   Rod monochromatism 2.
SY   Total colorblindness.
DR   MIM; 216900; phenotype.
DR   MedGen; C1857618.
DR   MeSH; D003117.
//
ID   Achromatopsia 3.
AC   DI-00023
AR   ACHM3.
DE   An autosomal recessive, ocular stationary disorder due to the absence
DE   of functioning cone photoreceptors in the retina. It is characterized
DE   by total colorblindness, low visual acuity, photophobia and nystagmus.
DE   Achromatopsia type 3 patients manifest severe myopia.
SY   Achromatopsia with myopia.
SY   Pingelapese blindness.
SY   Total colorblindness with myopia.
DR   MIM; 262300; phenotype.
DR   MedGen; C1849792.
DR   MeSH; D003117.
//
ID   Achromatopsia 4.
AC   DI-01166
AR   ACHM4.
DE   An ocular stationary disorder due to the absence of functioning cone
DE   photoreceptors in the retina. It is characterized by total
DE   colorblindness, low visual acuity, photophobia and nystagmus.
DR   MIM; 613856; phenotype.
DR   MedGen; C1841721.
DR   MeSH; D003117.
//
ID   Achromatopsia 5.
AC   DI-05080
AR   ACHM5.
DE   A form of achromatopsia, an ocular stationary disorder due to the
DE   absence of functioning cone photoreceptors in the retina. It is
DE   characterized by total colorblindness, low visual acuity, photophobia
DE   and nystagmus. ACHM5 inheritance is autosomal recessive.
DR   MIM; 613093; phenotype.
DR   MedGen; C2751309.
DR   MeSH; D003117.
//
ID   Achromatopsia 7.
AC   DI-04499
AR   ACHM7.
DE   A form of achromatopsia, an ocular stationary disorder due to the
DE   absence of functioning cone photoreceptors in the retina. It is
DE   characterized by total colorblindness, low visual acuity, photophobia
DE   and nystagmus.
DR   MIM; 616517; phenotype.
DR   MedGen; C4225297.
DR   MeSH; D003117.
//
ID   Acid-labile subunit deficiency.
AC   DI-04198
AR   ACLSD.
DE   A disorder characterized by severely reduced serum IGF-I and IGFBP-3
DE   concentrations and mild growth retardation. Pubertal delay in boys and
DE   insulin insensitivity are common findings.
DR   MIM; 615961; phenotype.
DR   MedGen; CN069120.
DR   MeSH; D006130.
//
ID   Acne inversa, familial, 1.
AC   DI-02995
AR   ACNINV1.
DE   A chronic relapsing inflammatory disease of the hair follicles
DE   characterized by recurrent draining sinuses, painful skin abscesses,
DE   and disfiguring scars. Manifestations typically appear after puberty.
SY   Acne inversa familial.
SY   Hidradenitis suppurativa familial.
DR   MIM; 142690; phenotype.
DR   MedGen; C1840560.
DR   MeSH; D017497.
//
ID   Acne inversa, familial, 2, with or without Dowling-Degos disease.
AC   DI-02996
AR   ACNINV2.
DE   An autosomal dominant form of acne inversa, a chronic relapsing
DE   inflammatory disease of the hair follicles characterized by recurrent
DE   draining sinuses, painful skin abscesses, and disfiguring scars.
DE   Manifestations typically appear after puberty. Some ACNINV2 patients
DE   also exhibit reticulate hyperpigmentation consistent with Dowling-
DE   Degos disease.
SY   Acne inversa familial.
SY   Hidradenitis suppurativa familial.
DR   MIM; 613736; phenotype.
DR   MedGen; C3151037.
DR   MeSH; D017497.
//
ID   Acne inversa, familial, 3.
AC   DI-02997
AR   ACNINV3.
DE   A chronic relapsing inflammatory disease of the hair follicles
DE   characterized by recurrent draining sinuses, painful skin abscesses,
DE   and disfiguring scars. Manifestations typically appear after puberty.
SY   Acne inversa familial.
SY   Hidradenitis suppurativa familial.
DR   MIM; 613737; phenotype.
DR   MedGen; C3151038.
DR   MeSH; D017497.
//
ID   Acro-dermato-ungual-lacrimal-tooth syndrome.
AC   DI-00028
AR   ADULT syndrome.
DE   A form of ectodermal dysplasia. Ectodermal dysplasia defines a
DE   heterogeneous group of disorders due to abnormal development of two or
DE   more ectodermal structures. ADULT syndrome involves ectrodactyly,
DE   syndactyly, finger- and toenail dysplasia, hypoplastic breasts and
DE   nipples, intensive freckling, lacrimal duct atresia, frontal alopecia,
DE   primary hypodontia and loss of permanent teeth. ADULT syndrome differs
DE   significantly from EEC3 syndrome by the absence of facial clefting.
DE   Inheritance is autosomal dominant.
DR   MIM; 103285; phenotype.
DR   MedGen; C1863204.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Acrocallosal syndrome.
AC   DI-00025
AR   ACLS.
DE   An autosomal recessive syndrome characterized by hypogenesis or
DE   agenesis of the corpus callosum. Clinical features include postaxial
DE   polydactyly, hallux duplication, macrocephaly, craniofacial
DE   abnormalities, severe developmental delay and intellectual disability.
SY   Hallux duplication postaxial polydactyly and absence of corpus callosum.
SY   Schinzel acrocallosal syndrome.
DR   MIM; 200990; phenotype.
DR   MedGen; C0796147.
DR   MedGen; C2931760.
DR   MeSH; D055673.
KW   KW-1186:Ciliopathy.
//
ID   Acrocapitofemoral dysplasia.
AC   DI-00026
AR   ACFD.
DE   An autosomal recessive disorder characterized by short stature of
DE   variable severity with postnatal onset. The most constant radiographic
DE   abnormalities are observed in the tubular bones of the hands and in
DE   the proximal part of the femur. Cone-shaped epiphyses or a similar
DE   epiphyseal configuration with premature epimetaphyseal fusion result
DE   in shortening of the skeletal components involved. Cone-shaped
DE   epiphyses are also present to a variable extent at the shoulders,
DE   knees and ankles.
DR   MIM; 607778; phenotype.
DR   MedGen; C1843096.
DR   MeSH; D001848.
DR   MeSH; D017880.
//
ID   Acrodermatitis enteropathica, zinc-deficiency type.
AC   DI-00027
AR   AEZ.
DE   A rare autosomal recessive disease caused by the inability to absorb
DE   sufficient zinc. The clinical features are growth retardation, immune-
DE   system dysfunction, alopecia, severe dermatitis, diarrhea and
DE   occasionally mental disorders.
DR   MIM; 201100; phenotype.
DR   MedGen; C0221036.
DR   MeSH; D000169.
//
ID   Acrodysostosis 1, with or without hormone resistance.
AC   DI-03459
AR   ACRDYS1.
DE   A form of skeletal dysplasia characterized by short stature, severe
DE   brachydactyly, facial dysostosis, and nasal hypoplasia. Affected
DE   individuals often have advanced bone age and obesity. Laboratory
DE   studies show resistance to multiple hormones, including parathyroid,
DE   thyrotropin, calcitonin, growth hormone-releasing hormone, and
DE   gonadotropin. However, not all patients show endocrine abnormalities.
SY   ADOHR.
SY   Arkless-Graham syndrome.
SY   Maroteaux-Malamut syndrome.
DR   MIM; 101800; phenotype.
DR   MedGen; C0220659.
DR   MedGen; C3276228.
DR   MeSH; D004413.
//
ID   Acrodysostosis 2, with or without hormone resistance.
AC   DI-03460
AR   ACRDYS2.
DE   A pleiotropic disorder characterized by skeletal, endocrine, and
DE   neurological abnormalities. Skeletal features include brachycephaly,
DE   midface hypoplasia with a small upturned nose, brachydactyly, and
DE   lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism
DE   and hypogonadism in males and irregular menses in females.
DE   Developmental disability is a common finding but is variable in
DE   severity and can be associated with significant behavioral problems.
DR   MIM; 614613; phenotype.
DR   MedGen; C3553250.
DR   MedGen; CN124736.
DR   MeSH; D004413.
//
ID   Acrofacial dysostosis 1, Nager type.
AC   DI-03474
AR   AFD1.
DE   A form of acrofacial dysostosis, a group of disorders which are
DE   characterized by malformation of the craniofacial skeleton and the
DE   limbs. The major facial features of AFD1 include downslanted palpebral
DE   fissures, midface retrusion, and micrognathia, the latter of which
DE   often requires the placement of a tracheostomy in early childhood.
DE   Limb defects typically involve the anterior (radial) elements of the
DE   upper limbs and manifest as small or absent thumbs, triphalangeal
DE   thumbs, radial hyoplasia or aplasia, and radioulnar synostosis.
DE   Phocomelia of the upper limbs and, occasionally, lower-limb defects
DE   have also been reported.
SY   AFD Nager type.
SY   Mandibulofacial dysostosis Treacher Collins type with limb anomalies.
SY   Nager acrofacial dysostosis.
SY   Nager syndrome.
DR   MIM; 154400; phenotype.
DR   MedGen; C0265245.
DR   MeSH; D008342.
//
ID   Acrofacial dysostosis, Cincinnati type.
AC   DI-04483
AR   AFDCIN.
DE   A form of acrofacial dysostosis, a group of disorders which are
DE   characterized by malformation of the craniofacial skeleton and, in
DE   some patients, the limbs.
DR   MIM; 616462; phenotype.
DR   MedGen; CN231445.
DR   MeSH; D008342.
//
ID   Acrofacial dysostosis, Weyers type.
AC   DI-00029
AR   WAD.
DE   An autosomal dominant condition characterized by dysplastic nails,
DE   postaxial polydactyly, dental anomalies, short limbs, short stature
DE   and normal intelligence. The phenotype is milder than Ellis-van
DE   Creveld syndrome.
SY   Acrodental dysostosis of Weyers.
SY   Curry-Hall syndrome.
SY   Weyers acrofacial dysostosis.
DR   MIM; 193530; phenotype.
DR   MedGen; C0457013.
DR   MeSH; D004413.
//
ID   Acrokeratosis verruciformis.
AC   DI-00030
AR   AKV.
DE   A localized disorder of keratinization, which is inherited as an
DE   autosomal dominant trait. Its onset is early in life with multiple
DE   flat-topped, flesh-colored papules on the hands and feet, punctate
DE   keratoses on the palms and soles, with varying degrees of nail
DE   involvement. The histopathology shows a distinctive pattern of
DE   epidermal features with hyperkeratosis, hypergranulosis and acanthosis
DE   together with papillomatosis. These changes are frequently associated
DE   with circumscribed elevations of the epidermis that are said to
DE   resemble church spires. There are no features of dyskeratosis or
DE   acantholysis, the typical findings in lesions of Darier disease.
SY   Hopf disease.
DR   MIM; 101900; phenotype.
DR   MedGen; C0265971.
DR   MeSH; D007642.
//
ID   Acromelic frontonasal dysostosis.
AC   DI-04203
AR   AFND.
DE   A rare variant form of frontonasal dysplasia, an array of
DE   abnormalities affecting the eyes, forehead and nose and linked to
DE   midfacial dysraphia. The clinical picture is highly variable. Major
DE   findings include true ocular hypertelorism, broadening of the nasal
DE   root, median facial cleft affecting the nose and/or upper lip and
DE   palate, unilateral or bilateral clefting of the alae nasi, lack of
DE   formation of the nasal tip, anterior cranium bifidum occultum, a V-
DE   shaped or widow's peak frontal hairline. AFND is characterized by the
DE   association of frontonasal malformations with various combinations of
DE   polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele,
DE   corpus callosum agenesis and Dandy-Walker malformation.
DR   MIM; 603671; phenotype.
DR   MedGen; C1863616.
DR   MeSH; D000013.
//
ID   Acromesomelic dysplasia 1.
AC   DI-00034
AR   AMD1.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD1 is an autosomal
DE   recessive form characterized by axial skeletal involvement with
DE   wedging of vertebral bodies. All skeletal elements are present but
DE   show abnormal rates of linear growth.
SY   Acromesomelic dysplasia, Maroteaux type.
SY   AMDM.
SY   St. Helena dysplasia.
DR   MIM; 602875; phenotype.
DR   MedGen; C0265278.
DR   MedGen; C1864356.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic dysplasia 2A.
AC   DI-00031
AR   AMD2A.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD2A is an autosomal
DE   recessive form characterized by normal axial skeletons and missing or
DE   fused skeletal elements within the hands and feet.
SY   Acromesomelic chondrodysplasia, Grebe type.
SY   AMDG.
DR   MIM; 200700; phenotype.
DR   MedGen; C0265260.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic dysplasia 2B.
AC   DI-01505
AR   AMD2B.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD2B is an autosomal
DE   recessive form characterized by acromesomelic limb shortening with
DE   severe reduction or absence of the fibula, and severe hand and feet
DE   abnormalities including complex brachydactyly.
SY   DUPANS.
SY   Du Pan syndrome.
SY   Fibular hypoplasia and complex brachydactyly.
DR   MIM; 228900; phenotype.
DR   MedGen; C1856738.
DR   MeSH; D059327.
//
ID   Acromesomelic dysplasia 2C.
AC   DI-00032
AR   AMD2C.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD2C is an autosomal
DE   recessive form characterized by skeletal abnormalities restricted to
DE   the limbs. The craniofacial skeleton and axial skeletal structures are
DE   normal.
SY   Acromesomelic chondrodysplasia, Hunter-Thompson type.
SY   AMDH.
DR   MIM; 201250; phenotype.
DR   MedGen; CN028907.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic dysplasia 3.
AC   DI-00033
AR   AMD3.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD3 is an autosomal
DE   recessive form characterized by bilateral aplasia of the fibula,
DE   severe brachydactyly, and fusion of carpal and tarsal bones.
SY   Acromesomelic chondrodysplasia, with genital anomalies.
SY   Acromesomelic dysplasia, Demirhan type.
SY   AMDD.
SY   Chondrodysplasia, acromesomelic, with or without genital anomalies.
DR   MIM; 609441; phenotype.
DR   MedGen; C1836182.
DR   MeSH; D004392.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic dysplasia 4.
AC   DI-06276
AR   AMD4.
DE   A form of acromesomelic dysplasia, a skeletal disorder characterized
DE   by short stature, very short limbs and hand/foot malformations. The
DE   severity of limb abnormalities increases from proximal to distal with
DE   profoundly affected hands and feet showing brachydactyly and/or
DE   rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks
DE   include mild to moderate platyspondyly, moderate brachydactyly, iliac
DE   flaring, and metaphyseal alterations of the long bones that
DE   progressively increase with age. AMD4 inheritance is autosomal
DE   recessive.
DR   MIM; 619636; phenotype.
DR   MedGen; CN304774.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromicric dysplasia.
AC   DI-03225
AR   ACMICD.
DE   An autosomal dominant disorder characterized by severe short stature,
DE   short hands and feet, joint limitations, and skin thickening.
DE   Radiologic features include delayed bone age, cone-shaped epiphyses,
DE   shortened long tubular bones, and ovoid vertebral bodies. Affected
DE   individuals have distinct facial features, including round face, well-
DE   defined eyebrows, long eyelashes, bulbous nose with anteverted
DE   nostrils, long and prominent philtrum, and thick lips with a small
DE   mouth. Other characteristic features include hoarse voice and
DE   pseudomuscular build, and there are distinct skeletal features as
DE   well, including an internal notch of the femoral head, internal notch
DE   of the second metacarpal, and external notch of the fifth metacarpal.
DR   MIM; 102370; phenotype.
DR   MedGen; CN074238.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   ACTH deficiency, isolated.
AC   DI-00035
AR   IAD.
DE   An autosomal recessive disorder that is characterized by adrenal
DE   insufficiency symptoms, such as weight loss, lack of appetite
DE   (anorexia), weakness, nausea, vomiting and low blood pressure
DE   (hypotension). The pituitary hormone ACTH is decreased or absent, and
DE   other cortisol and other steroid hormone levels in the blood are
DE   abnormally low.
SY   Adrenocorticotropic hormone deficiency.
DR   MIM; 201400; phenotype.
DR   MedGen; C0271583.
DR   MedGen; C0342388.
DR   MeSH; D007018.
//
ID   ACTH-independent macronodular adrenal hyperplasia 1.
AC   DI-01167
AR   AIMAH1.
DE   A rare adrenal defect characterized by multiple, bilateral, non-
DE   pigmented, benign, adrenocortical nodules. It results in excessive
DE   production of cortisol leading to ACTH-independent Cushing syndrome.
DE   Clinical manifestations of Cushing syndrome include facial and truncal
DE   obesity, abdominal striae, muscular weakness, osteoporosis, arterial
DE   hypertension, diabetes.
SY   ACTH-independent Cushing syndrome.
SY   ACTH-independent macronodular adrenocortical hyperplasia.
SY   Adrenal Cushing syndrome due to AIMAH.
SY   Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.
SY   Corticotropin-independent macronodular adrenal hyperplasia.
DR   MIM; 219080; phenotype.
DR   MedGen; C1857451.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   ACTH-independent macronodular adrenal hyperplasia 2.
AC   DI-04195
AR   AIMAH2.
DE   A form of macronodular adrenal hyperplasia characterized by multiple,
DE   bilateral, non-pigmented, benign, adrenocortical nodules. It results
DE   in excessive production of cortisol leading to ACTH-independent
DE   Cushing syndrome. Clinical manifestations of Cushing syndrome include
DE   facial and truncal obesity, abdominal striae, muscular weakness,
DE   osteoporosis, arterial hypertension, diabetes.
SY   Primary macronodular adrenal hyperplasia.
DR   MIM; 615954; phenotype.
DR   MedGen; CN207837.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   Acute hepatic porphyria.
AC   DI-00036
AR   AHEPP.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. AHP is
DE   characterized by attacks of gastrointestinal disturbances, abdominal
DE   colic, paralyses and peripheral neuropathy. Most attacks are
DE   precipitated by drugs, alcohol, caloric deprivation, infections, or
DE   endocrine factors.
SY   ALAD deficiency.
SY   Delta-aminolevulinate dehydratase deficiency.
SY   Doss porphyria.
SY   Porphobilinogen synthase deficiency.
SY   Porphyria ALAD.
DR   MIM; 612740; phenotype.
DR   MedGen; C0268328.
DR   MedGen; C2748608.
DR   MeSH; D017094.
//
ID   Acute intermittent porphyria.
AC   DI-00037
AR   AIP.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. AIP is an
DE   autosomal dominant form of hepatic porphyria characterized by attacks
DE   of gastrointestinal disturbances, abdominal colic, with neurological
DE   dysfunctions, hypertension, tachycardia and peripheral neuropathy.
DE   Most attacks are precipitated by drugs, alcohol, caloric deprivation,
DE   infections, or endocrine factors.
SY   PBGD deficiency.
SY   Porphobilinogen deaminase deficiency.
SY   Porphyria, Swedish type.
SY   UPS deficiency.
SY   Uroporphyrinogen synthase deficiency.
DR   MIM; 176000; phenotype.
DR   MedGen; C0162565.
DR   MedGen; C0268322.
DR   MedGen; C0311292.
DR   MedGen; C1867969.
DR   MedGen; C2936779.
DR   MeSH; D017118.
//
ID   Acyl-CoA dehydrogenase medium-chain deficiency.
AC   DI-01956
AR   ACADMD.
DE   An inborn error of mitochondrial fatty acid beta-oxidation which
DE   causes fasting hypoglycemia, hepatic dysfunction and encephalopathy,
DE   often resulting in death in infancy.
SY   ACADM deficiency.
SY   Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency.
SY   MCAD deficiency.
SY   MCADH deficiency.
DR   MIM; 201450; phenotype.
DR   MedGen; C0220710.
DR   MeSH; D008052.
//
ID   Acyl-CoA dehydrogenase short-chain deficiency.
AC   DI-02301
AR   ACADSD.
DE   An inborn error of mitochondrial fatty acid beta-oxidation resulting
DE   in acute acidosis and muscle weakness in infants, and a form of lipid-
DE   storage myopathy in adults.
SY   ACADS deficiency.
SY   Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency.
SY   SCAD deficiency.
SY   SCADH deficiency.
DR   MIM; 201470; phenotype.
DR   MedGen; C0342783.
DR   MeSH; D008052.
//
ID   Acyl-CoA dehydrogenase very long-chain deficiency.
AC   DI-02411
AR   ACADVLD.
DE   An inborn error of mitochondrial fatty acid beta-oxidation which leads
DE   to impaired long-chain fatty acid beta-oxidation. It is clinically
DE   heterogeneous, with three major phenotypes: a severe childhood form
DE   characterized by early onset, high mortality and high incidence of
DE   cardiomyopathy; a milder childhood form with later onset,
DE   characterized by hypoketotic hypoglycemia, low mortality and rare
DE   cardiomyopathy; an adult form, with isolated skeletal muscle
DE   involvement, rhabdomyolysis and myoglobinuria, usually triggered by
DE   exercise or fasting.
SY   ACADL deficiency.
SY   Acyl-CoA dehydrogenase long-chain deficiency.
SY   LCAD deficiency.
SY   VLCAD deficiency.
DR   MIM; 201475; phenotype.
DR   MedGen; C0342784.
DR   MeSH; D008052.
//
ID   Adams-Oliver syndrome 1.
AC   DI-03194
AR   AOS1.
DE   A disorder characterized by the congenital absence of skin (aplasia
DE   cutis congenita) in combination with transverse limb defects. Aplasia
DE   cutis congenita can be located anywhere on the body, but in the vast
DE   majority of the cases, it is present on the posterior parietal region
DE   where it is often associated with an underlying defect of the parietal
DE   bones. Limb abnormalities are typically limb truncation defects
DE   affecting the distal phalanges or entire digits (true ectrodactyly).
DE   Only rarely, metatarsals/metacarpals or more proximal limb structures
DE   are also affected. Apart from transverse limb defects, syndactyly,
DE   most commonly of second and third toes, can also be observed. The
DE   clinical features are highly variable and can also include
DE   cardiovascular malformations, brain abnormalities and vascular defects
DE   such as cutis marmorata and dilated scalp veins.
SY   Absence defect of limbs scalp and skull.
SY   Aplasia cutis congenita with terminal transverse limb defects.
SY   Congenital scalp defects with distal limb reduction anomalies.
DR   MIM; 100300; phenotype.
DR   MedGen; C0265268.
DR   MedGen; C1970140.
DR   MedGen; CN028867.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adams-Oliver syndrome 2.
AC   DI-03223
AR   AOS2.
DE   A disorder characterized by the congenital absence of skin (aplasia
DE   cutis congenita) in combination with transverse limb defects. Aplasia
DE   cutis congenita can be located anywhere on the body, but in the vast
DE   majority of the cases, it is present on the posterior parietal region
DE   where it is often associated with an underlying defect of the parietal
DE   bones. Limb abnormalities are typically limb truncation defects
DE   affecting the distal phalanges or entire digits (true ectrodactyly).
DE   Only rarely, metatarsals/metacarpals or more proximal limb structures
DE   are also affected. Apart from transverse limb defects, syndactyly,
DE   most commonly of second and third toes, can also be observed. The
DE   clinical features are highly variable and can also include
DE   cardiovascular malformations, brain abnormalities and vascular defects
DE   such as cutis marmorata and dilated scalp veins.
DR   MIM; 614219; phenotype.
DR   MedGen; C3280182.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adams-Oliver syndrome 3.
AC   DI-03522
AR   AOS3.
DE   An autosomal dominant form of Adams-Oliver syndrome, a disorder
DE   characterized by the congenital absence of skin (aplasia cutis
DE   congenita) in combination with transverse limb defects. Aplasia cutis
DE   congenita can be located anywhere on the body, but in the vast
DE   majority of the cases, it is present on the posterior parietal region
DE   where it is often associated with an underlying defect of the parietal
DE   bones. Limb abnormalities are typically limb truncation defects
DE   affecting the distal phalanges or entire digits (true ectrodactyly).
DE   Only rarely, metatarsals/metacarpals or more proximal limb structures
DE   are also affected. Apart from transverse limb defects, syndactyly,
DE   most commonly of second and third toes, can also be observed. The
DE   clinical features are highly variable and can also include
DE   cardiovascular malformations, brain abnormalities and vascular defects
DE   such as cutis marmorata and dilated scalp veins. AOS3 patients
DE   manifest characteristic vertex scalp defects and terminal limb
DE   defects, but without congenital heart defects, other associated
DE   defects, or immune defects.
DR   MIM; 614814; phenotype.
DR   MedGen; C3553748.
DR   MedGen; CN143713.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adams-Oliver syndrome 4.
AC   DI-03817
AR   AOS4.
DE   A form of Adams-Oliver syndrome, a disorder characterized by the
DE   congenital absence of skin (aplasia cutis congenita) in combination
DE   with transverse limb defects. Aplasia cutis congenita can be located
DE   anywhere on the body, but in the vast majority of the cases, it is
DE   present on the posterior parietal region where it is often associated
DE   with an underlying defect of the parietal bones. Limb abnormalities
DE   are typically limb truncation defects affecting the distal phalanges
DE   or entire digits (true ectrodactyly). Only rarely,
DE   metatarsals/metacarpals or more proximal limb structures are also
DE   affected. Apart from transverse limb defects, syndactyly, most
DE   commonly of second and third toes, can also be observed. The clinical
DE   features are highly variable and can also include cardiovascular
DE   malformations, brain abnormalities and vascular defects such as cutis
DE   marmorata and dilated scalp veins.
DR   MIM; 615297; phenotype.
DR   MedGen; C3809092.
DR   MedGen; CN177721.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adams-Oliver syndrome 5.
AC   DI-04227
AR   AOS5.
DE   A form of Adams-Oliver syndrome, a disorder characterized by the
DE   congenital absence of skin (aplasia cutis congenita) in combination
DE   with transverse limb defects. Aplasia cutis congenita can be located
DE   anywhere on the body, but in the vast majority of the cases, it is
DE   present on the posterior parietal region where it is often associated
DE   with an underlying defect of the parietal bones. Limb abnormalities
DE   are typically limb truncation defects affecting the distal phalanges
DE   or entire digits (true ectrodactyly). Only rarely,
DE   metatarsals/metacarpals or more proximal limb structures are also
DE   affected. Apart from transverse limb defects, syndactyly, most
DE   commonly of second and third toes, can also be observed. The clinical
DE   features are highly variable and can also include cardiovascular
DE   malformations, brain abnormalities and vascular defects such as cutis
DE   marmorata and dilated scalp veins.
DR   MIM; 616028; phenotype.
DR   MedGen; CN219575.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adams-Oliver syndrome 6.
AC   DI-04559
AR   AOS6.
DE   A form of Adams-Oliver syndrome, a disorder characterized by the
DE   congenital absence of skin (aplasia cutis congenita) in combination
DE   with transverse limb defects. Aplasia cutis congenita can be located
DE   anywhere on the body, but in the vast majority of the cases, it is
DE   present on the posterior parietal region where it is often associated
DE   with an underlying defect of the parietal bones. Limb abnormalities
DE   are typically limb truncation defects affecting the distal phalanges
DE   or entire digits (true ectrodactyly). Only rarely,
DE   metatarsals/metacarpals or more proximal limb structures are also
DE   affected. Apart from transverse limb defects, syndactyly, most
DE   commonly of second and third toes, can also be observed. The clinical
DE   features are highly variable and can also include cardiovascular
DE   malformations, brain abnormalities and vascular defects such as cutis
DE   marmorata and dilated scalp veins.
DR   MIM; 616589; phenotype.
DR   MedGen; CN233136.
DR   MeSH; D004476.
DR   MeSH; D017880.
//
ID   Adenine phosphoribosyltransferase deficiency.
AC   DI-01188
AR   APRTD.
DE   An enzymatic deficiency that can lead to urolithiasis and renal
DE   failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
SY   2,8-dihydroxyadenine urolithiasis.
SY   APRT deficiency.
SY   Nephrolithiasis DHA.
SY   Urolithiasis DHA.
DR   MIM; 614723; phenotype.
DR   MedGen; C0268120.
DR   MedGen; C0268121.
DR   MedGen; C3665382.
DR   MeSH; D011686.
//
ID   Adenosine monophosphate deaminase deficiency erythrocyte type.
AC   DI-00038
AR   AMPDDE.
DE   A metabolic disorder due to lack of activity of the erythrocyte
DE   isoform of AMP deaminase. It is a clinically asymptomatic condition
DE   characterized by a 50% increase in steady-state levels of ATP in
DE   affected cells. Individuals with complete deficiency of erythrocyte
DE   AMP deaminase are healthy and have no hematologic disorders.
SY   AMP deaminase deficiency erythrocyte type.
SY   Erythrocyte AMP deaminase deficiency.
DR   MIM; 612874; phenotype.
DR   MedGen; C2752073.
DR   MeSH; D008659.
//
ID   Adenylosuccinase deficiency.
AC   DI-00040
AR   ADSLD.
DE   An autosomal recessive disorder characterized by the accumulation in
DE   the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-
DE   riboside) and succinyladenosine (S-Ado). Most children display marked
DE   psychomotor delay, often accompanied by epilepsy or autistic features,
DE   or both, although some patients may be less profoundly retarded.
DE   Occasionally, growth retardation and muscular wasting are also
DE   present.
SY   Adenylosuccinate lyase deficiency.
SY   ADSL deficiency.
DR   MIM; 103050; phenotype.
DR   MedGen; C0268126.
DR   MeSH; D011686.
KW   KW-0887:Epilepsy.
//
ID   Adermatoglyphia.
AC   DI-03267
AR   ADERM.
DE   An autosomal dominant condition characterized by the lack of epidermal
DE   ridges on the palms and soles, which results in the absence of
DE   fingerprints, and is associated with a reduced number of sweat gland
DE   openings and reduced sweating of palms and soles.
SY   Absence of fingerprints.
SY   Immigration delay disease.
DR   MIM; 136000; phenotype.
DR   MedGen; C1851080.
DR   MedGen; C1852150.
DR   MeSH; D012868.
//
ID   Adie pupil.
AC   DI-01174
AR   ADIEP.
DE   A stationary, benign disorder characterized by tonic, sluggishly
DE   reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is
DE   a characteristic of Charcot-Marie-Tooth disease type 2J.
SY   Adie syndrome.
SY   Holmes-Adie syndrome.
SY   Tonic pupil.
DR   MIM; 103100; phenotype.
DR   MedGen; C0001519.
DR   MeSH; D015845.
//
ID   Adiponectin deficiency.
AC   DI-00041
AR   ADPOD.
DE   An autosomal dominant condition characterized by very low
DE   concentrations of plasma adiponectin. Levels of adiponectin are
DE   decreased in obesity and may contribute to a chronic state of
DE   inflammation that leads to insulin resistance, type 2 diabetes,
DE   coronary artery disease, myocardial infarction, non-alcoholic
DE   steatohepatitis, and kidney disease.
DR   MIM; 612556; phenotype.
DR   MedGen; C2675517.
DR   MedGen; C2675518.
DR   MedGen; C2675519.
DR   MeSH; D003924.
DR   MeSH; D009765.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
//
ID   Adrenal hyperplasia 1.
AC   DI-01407
AR   AH1.
DE   The most severe form of adrenal hyperplasia. It is a condition
DE   characterized by onset of profound adrenocortical insufficiency
DE   shortly after birth, hyperpigmentation reflecting increased production
DE   of pro-opiomelanocortin, elevated plasma renin activity as a
DE   consequence of reduced aldosterone synthesis, and male
DE   pseudohermaphroditism resulting from deficient fetal testicular
DE   testosterone synthesis. Affected individuals are phenotypic females
DE   irrespective of gonadal sex, and frequently die in infancy if
DE   mineralocorticoid and glucocorticoid replacement are not instituted.
SY   Congenital lipoid adrenal hyperplasia.
SY   Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism.
SY   Lipoid CAH.
DR   MIM; 201710; phenotype.
DR   MedGen; C0342474.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Adrenal hyperplasia 2.
AC   DI-00042
AR   AH2.
DE   A form of congenital adrenal hyperplasia, a common recessive disease
DE   due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE   is characterized by androgen excess leading to ambiguous genitalia in
DE   affected females, rapid somatic growth during childhood in both sexes
DE   with premature closure of the epiphyses and short adult stature. Four
DE   clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE   virilizing' (SV, less severely affected patients), with normal
DE   aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE   LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less
DE   marked or does not occur. AH2 is frequently lethal in early life.
SY   3-beta-HSD deficiency.
SY   3-beta-hydroxysteroid dehydrogenase type II deficiency.
SY   Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.
SY   Adrenal hyperplasia type II.
SY   AH-II.
SY   Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency.
DR   MIM; 201810; phenotype.
DR   MedGen; C0342471.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Adrenal hyperplasia 3.
AC   DI-00043
AR   AH3.
DE   A form of congenital adrenal hyperplasia, a common recessive disease
DE   due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE   is characterized by androgen excess leading to ambiguous genitalia in
DE   affected females, rapid somatic growth during childhood in both sexes
DE   with premature closure of the epiphyses and short adult stature. Four
DE   clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE   virilizing' (SV, less severely affected patients), with normal
DE   aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE   LOAH) and 'cryptic' (asymptomatic).
SY   Adrenal hyperplasia type III.
SY   AH-III.
SY   CAH1.
SY   Congenital adrenal hyperplasia 1.
SY   Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
SY   Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency.
DR   MIM; 201910; phenotype.
DR   MedGen; C0852654.
DR   MedGen; C1859995.
DR   MedGen; C2936858.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Adrenal hyperplasia 4.
AC   DI-00044
AR   AH4.
DE   A form of congenital adrenal hyperplasia, a common recessive disease
DE   due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE   is characterized by androgen excess leading to ambiguous genitalia in
DE   affected females, rapid somatic growth during childhood in both sexes
DE   with premature closure of the epiphyses and short adult stature. Four
DE   clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE   virilizing' (SV, less severely affected patients), with normal
DE   aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE   LOAH) and 'cryptic' (asymptomatic).
SY   Adrenal hyperplasia type IV.
SY   AH-IV.
SY   Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.
DR   MIM; 202010; phenotype.
DR   MedGen; C0268292.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Adrenal hyperplasia 5.
AC   DI-00045
AR   AH5.
DE   A form of congenital adrenal hyperplasia, a common recessive disease
DE   due to defective synthesis of cortisol. Congenital adrenal hyperplasia
DE   is characterized by androgen excess leading to ambiguous genitalia in
DE   affected females, rapid somatic growth during childhood in both sexes
DE   with premature closure of the epiphyses and short adult stature. Four
DE   clinical types: 'salt wasting' (SW, the most severe type), 'simple
DE   virilizing' (SV, less severely affected patients), with normal
DE   aldosterone biosynthesis, 'non-classic form' or late-onset (NC or
DE   LOAH) and 'cryptic' (asymptomatic).
SY   Adrenal hyperplasia type V.
SY   AH-V.
SY   Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.
DR   MIM; 202110; phenotype.
DR   MedGen; C0268285.
DR   MedGen; C2242824.
DR   MedGen; C3277849.
DR   MedGen; C3277851.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Adrenal hypoplasia, congenital.
AC   DI-02426
AR   AHC.
DE   A disorder of adrenal gland development characterized by absence of
DE   the permanent zone of the adrenal cortex, structural disorganization
DE   of the adrenal glands, adrenal insufficiency and profound hormonal
DE   deficiencies. AHC patients manifest primary adrenal failure usually in
DE   early infancy, and hypogonadotropic hypogonadism leading to absent or
DE   incomplete sexual maturation. AHC can be inherited in an X-linked or
DE   autosomal recessive pattern.
SY   Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism.
SY   AHCH.
SY   AHC with HHG.
SY   AHC with isolated gonadotropin deficiency.
SY   AHX.
SY   Cytomegalic adrenocortical hypoplasia.
SY   X-linked Addison disease.
SY   X-linked adrenal hypoplasia congenital.
DR   MIM; 300200; phenotype.
DR   MedGen; C0220766.
DR   MedGen; C0342482.
DR   MedGen; C1846220.
DR   MedGen; C1846221.
DR   MeSH; D000309.
//
ID   Adrenal insufficiency, congenital, with 46,XY sex reversal.
AC   DI-03022
AR   AICSR.
DE   A rare disorder that can present as acute adrenal insufficiency in
DE   infancy or childhood. ACTH and plasma renin activity are elevated and
DE   adrenal steroids are inappropriately low or absent; the 46,XY patients
DE   have female external genitalia, sometimes with clitoromegaly. The
DE   phenotypic spectrum ranges from prematurity, complete
DE   underandrogenization, and severe early-onset adrenal failure to term
DE   birth with clitoromegaly and later-onset adrenal failure. Patients
DE   with congenital adrenal insufficiency do not manifest the massive
DE   adrenal enlargement typical of congenital lipoid adrenal hyperplasia.
SY   Adrenal insufficiency congenital with 46,XY sex reversal partial or complete.
SY   P450scc deficiency.
DR   MIM; 613743; phenotype.
DR   MedGen; C3151055.
DR   MeSH; D047808.
//
ID   Adrenal insufficiency, NR5A1-related.
AC   DI-05003
AR   AINR.
DE   A disorder characterized by adrenal insufficiency, muscular hypotonia,
DE   decreased sodium and increased potassium levels, elevated ACTH, salt-
DE   wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.
DR   MIM; 612964; phenotype.
DR   MedGen; CN244003.
DR   MeSH; D000309.
//
ID   Adrenocortical carcinoma.
AC   DI-02740
AR   ADCC.
DE   A malignant neoplasm of the adrenal cortex and a rare childhood tumor.
DE   It occurs with increased frequency in patients with Beckwith-Wiedemann
DE   syndrome and Li-Fraumeni syndrome.
SY   Hereditary adrenocortical carcinoma.
SY   Pediatric adrenocortical carcinoma.
DR   MIM; 202300; phenotype.
DR   MedGen; C1859972.
DR   MedGen; C1859973.
DR   MeSH; D018268.
//
ID   Adrenoleukodystrophy.
AC   DI-00050
AR   ALD.
DE   A peroxisomal metabolic disorder characterized by progressive
DE   multifocal demyelination of the central nervous system and by
DE   peripheral adrenal insufficiency (Addison disease). It results in
DE   mental deterioration, corticospinal tract dysfunction, and cortical
DE   blindness. Different clinical manifestations exist like: cerebral
DE   childhood ALD (CALD), adult cerebral ALD (ACALD),
DE   adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO)
DE   phenotype.
SY   Addison disease and cerebral sclerosis.
SY   Adrenomyeloneuropathy.
SY   AMN.
SY   Bronze Schilder disease.
SY   Melanodermic leukodystrophy.
SY   Siemerling-Creutzfeldt disease.
DR   MIM; 300100; phenotype.
DR   MedGen; C0162309.
DR   MedGen; C1527231.
DR   MedGen; C2931920.
DR   MeSH; D000326.
//
ID   Adrenoleukodystrophy, pseudoneonatal.
AC   DI-00049
AR   Pseudo-NALD.
DE   A peroxisomal single-enzyme disorder of fatty acid beta-oxidation,
DE   resulting in clinical manifestations that remind neonatal
DE   adrenoleukodystrophy. Clinical features include intellectual
DE   disability, leukodystrophy, seizures, mild hepatomegaly, hearing
DE   deficit. Pseudo-NALD is characterized by increased plasma levels of
DE   very-long chain fatty acids, due to decreased or absent peroxisome
DE   acyl-CoA oxidase activity. Peroxisomes are intact and functioning.
SY   Peroxisomal acyl-CoA oxidase deficiency.
DR   MIM; 264470; phenotype.
DR   MedGen; C1849678.
DR   MeSH; D000326.
//
ID   Advanced sleep phase syndrome, familial, 1.
AC   DI-01548
AR   FASPS1.
DE   An autosomal dominant disorder characterized by very early sleep onset
DE   and offset. Individuals are 'morning larks' with a 4 hours advance of
DE   the sleep, temperature and melatonin rhythms.
DR   MIM; 604348; phenotype.
DR   MedGen; C1858496.
DR   MeSH; D020178.
//
ID   Advanced sleep phase syndrome, familial, 2.
AC   DI-03718
AR   FASPS2.
DE   An autosomal dominant disorder characterized by very early sleep onset
DE   and offset. Individuals are 'morning larks' with a 4 hours advance of
DE   the sleep, temperature and melatonin rhythms.
DR   MIM; 615224; phenotype.
DR   MedGen; C3808874.
DR   MedGen; CN169521.
DR   MeSH; D020178.
//
ID   Advanced sleep phase syndrome, familial, 3.
AC   DI-04696
AR   FASPS3.
DE   An autosomal dominant disorder characterized by very early sleep onset
DE   and offset. Individuals are 'morning larks' with a 4 hours advance of
DE   the sleep, temperature and melatonin rhythms.
DR   MIM; 616882; phenotype.
DR   MedGen; CN235882.
DR   MeSH; D020178.
//
ID   Advanced sleep phase syndrome, familial, 4.
AC   DI-06481
AR   FASPS4.
DE   An autosomal dominant disorder characterized by very early sleep onset
DE   and offset. Individuals are 'morning larks' with a 4 hours advance of
DE   the sleep, temperature and melatonin rhythms.
DR   MIM; 620015; phenotype.
DR   MedGen; CN235882.
DR   MeSH; D020178.
//
ID   Agammaglobulinemia 1, autosomal recessive.
AC   DI-01249
AR   AGM1.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to IGHM defect.
DR   MIM; 601495; phenotype.
DR   MedGen; C1832241.
DR   MedGen; C3152144.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 10, autosomal dominant.
AC   DI-06310
AR   AGM10.
DE   A form of agammaglobulinemia, a primary immunodeficiency characterized
DE   by profoundly low or absent serum antibodies and low or absent
DE   circulating B-cells due to an early block of B-cell development.
DE   Affected individuals develop severe infections in the first years of
DE   life.
SY   Agammaglobulinemia, autosomal dominant, due to SPI1 defect.
DR   MIM; 619707; phenotype.
DR   MedGen; CN306197.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 2, autosomal recessive.
AC   DI-02888
AR   AGM2.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to IGLL1 defect.
DR   MIM; 613500; phenotype.
DR   MedGen; C3150750.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 3, autosomal recessive.
AC   DI-02873
AR   AGM3.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B-cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to CD79A defect.
DR   MIM; 613501; phenotype.
DR   MedGen; C3150751.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 4, autosomal recessive.
AC   DI-02874
AR   AGM4.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B-cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to BLNK defect.
DR   MIM; 613502; phenotype.
DR   MedGen; C3150752.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 5, autosomal dominant.
AC   DI-02875
AR   AGM5.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B-cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal dominant due to LRRC8A defect.
DR   MIM; 613506; phenotype.
DR   MedGen; C3150753.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 6, autosomal recessive.
AC   DI-02889
AR   AGM6.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B-cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to CD79B defect.
DR   MIM; 612692; phenotype.
DR   MedGen; C3150207.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 7, autosomal recessive.
AC   DI-03723
AR   AGM7.
DE   A primary immunodeficiency characterized by profoundly low or absent
DE   serum antibodies and low or absent circulating B-cells due to an early
DE   block of B-cell development. Affected individuals develop severe
DE   infections in the first years of life.
SY   Agammaglobulinemia autosomal recessive due to PIK3R1 defect.
DR   MIM; 615214; phenotype.
DR   MedGen; C3554689.
DR   MedGen; CN169371.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 8A, autosomal dominant.
AC   DI-04717
AR   AGM8A.
DE   A form of agammaglobulinemia, a primary immunodeficiency characterized
DE   by profoundly low or absent serum antibodies and low or absent
DE   circulating B-cells due to an early block of B-cell development.
DE   Affected individuals develop severe infections in the first years of
DE   life.
SY   Agammaglobulinemia, autosomal dominant, due to TCF3 defect.
DR   MIM; 616941; phenotype.
DR   MedGen; CN236422.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 8B, autosomal recessive.
AC   DI-06388
AR   AGM8B.
DE   A form of agammaglobulinemia, a primary immunodeficiency characterized
DE   by profoundly low or absent serum antibodies and low or absent
DE   circulating B-cells due to an early block of B-cell development. AGM8B
DE   is characterized by onset of recurrent infections in early childhood.
DE   AGM8B patients may show dysmorphic facies and subtle abnormalities of
DE   other immune cells, such as T cells.
SY   Agammaglobulinemia, autosomal recessive, due to TCF3 defect.
DR   MIM; 619824; phenotype.
DR   MedGen; CN308189.
DR   MeSH; D000361.
//
ID   Agammaglobulinemia 9, autosomal recessive.
AC   DI-06309
AR   AGM9.
DE   A form of agammaglobulinemia, a primary immunodeficiency characterized
DE   by profoundly low or absent serum antibodies and low or absent
DE   circulating B-cells due to an early block of B-cell development.
DE   Affected individuals develop severe infections in the first years of
DE   life.
SY   Agammaglobulinemia, autosomal recessive, due to SLC39A7 defect.
DR   MIM; 619693; phenotype.
DR   MedGen; CN305778.
DR   MeSH; D000361.
//
ID   Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.
AC   DI-05864
AR   ACOGS.
DE   An autosomal dominant, syndromic neurodevelopmental disorder
DE   characterized by global developmental delay and/or intellectual
DE   disability, corpus callosum agenesis or hypoplasia, mirror movements,
DE   dysmorphic features, and ocular, cardiac, and genital anomalies.
DR   MIM; 618929; phenotype.
DR   MedGen; CN283241.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Agenesis of the corpus callosum, with abnormal genitalia.
AC   DI-01175
AR   ACCAG.
DE   An X-linked syndrome with variable expression in females. It is
DE   characterized by agenesis of corpus callosum, intellectual disability
DE   and seizures. Manifestations in surviving males include severe
DE   acquired micrencephaly, intellectual disability, limb contractures,
DE   scoliosis, tapered fingers with hyperconvex nails, a characteristic
DE   face with large eyes, prominent supraorbital ridges, synophrys, optic
DE   atrophy, broad alveolar ridges, and seizures. Urologic anomalies
DE   include renal dysplasia, cryptorchidism, and hypospadias.
SY   ACC with abnormal genitalia.
SY   Corpus callosum, agenesis of, with abnormal genitalia.
SY   Micrencephaly-corpus callosum agenesis-abnormal genitalia.
SY   Proud-Levine-Carpenter syndrome.
SY   Proud syndrome.
DR   MIM; 300004; phenotype.
DR   MedGen; C0796124.
DR   MeSH; D009421.
//
ID   Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia.
AC   DI-04654
AR   CCAFCA.
DE   An autosomal recessive intellectual disability syndrome characterized
DE   by congenital microcephaly, low anterior hairline, bitemporal
DE   narrowing, low-set protruding ears, strabismus and tented thick
DE   eyebrows with sparse hair in their medial segment.
SY   Birk-Flusser syndrome.
SY   Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.
DR   MIM; 616819; phenotype.
DR   MedGen; CN235211.
DR   MeSH; D061085.
KW   KW-0991:Intellectual disability.
//
ID   Agenesis of the corpus callosum, with peripheral neuropathy.
AC   DI-00054
AR   ACCPN.
DE   A disease that is characterized by severe progressive sensorimotor
DE   neuropathy, intellectual disability, dysmorphic features and complete
DE   or partial agenesis of the corpus callosum.
SY   Andermann's syndrome.
SY   Andermann syndrome.
SY   Charlevoix disease.
SY   Corpus callosum, agenesis of, with neuronopathy.
SY   Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum.
DR   MIM; 218000; phenotype.
DR   MedGen; C0795950.
DR   MeSH; D009421.
KW   KW-0622:Neuropathy.
//
ID   Agenesis of the corpus callosum, X-linked, partial.
AC   DI-02143
AR   ACCPX.
DE   A syndrome characterized by partial corpus callosum agenesis,
DE   hypoplasia of inferior vermis and cerebellum, intellectual disability,
DE   seizures and spasticity. Other features include microcephaly, unusual
DE   facies, and Hirschsprung disease in some patients.
DR   MIM; 304100; phenotype.
DR   MedGen; C1839909.
DR   MeSH; D055673.
//
ID   Agnathia-otocephaly complex.
AC   DI-03217
AR   AGOTC.
DE   A rare condition characterized by mandibular hypoplasia or agnathia,
DE   ventromedial auricular malposition (melotia) and/or auricular fusion
DE   (synotia), and microstomia with oroglossal hypoplasia or aglossia.
DE   Holoprosencephaly is the most commonly identified association, but
DE   skeletal, genitourinary, and cardiovascular anomalies, and situs
DE   inversus have been reported. The disorder is almost always lethal.
SY   Dysgnathia complex agnathia-holoprosencephaly.
SY   Holoprosencephaly-agnathia.
SY   Otocephaly.
DR   MIM; 202650; phenotype.
DR   MedGen; C0265242.
DR   MedGen; C1876185.
DR   MeSH; D007569.
DR   MeSH; D016142.
//
ID   AICA-ribosuria due to ATIC deficiency.
AC   DI-00065
AR   AICAR.
DE   A neurologically devastating inborn error of purine biosynthesis.
DE   Patients excrete massive amounts of AICA-riboside in the urine and
DE   accumulate AICA-ribotide and its derivatives in erythrocytes and
DE   fibroblasts. Clinical features include profound intellectual
DE   disability, epilepsy, dysmorphic features and congenital blindness.
DE   AICAR inheritance is autosomal recessive.
SY   AICA-ribosiduria due to ATIC deficiency.
SY   AICAR transformylase/IMP cyclohydrolase deficiency.
SY   ATIC deficiency.
DR   MIM; 608688; phenotype.
DR   MedGen; C1837530.
DR   MeSH; D011686.
KW   KW-0991:Intellectual disability.
//
ID   Aicardi-Goutieres syndrome 1.
AC   DI-00066
AR   AGS1.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Autosomal dominant Aicardi-Goutieres syndrome.
SY   Cree encephalitis.
SY   Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis.
SY   Pseudo-TORCH syndrome.
SY   Pseudotoxoplasmosis syndrome.
DR   MIM; 225750; phenotype.
DR   MedGen; C0796126.
DR   MedGen; C3150315.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 2.
AC   DI-00067
AR   AGS2.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Cree encephalitis.
SY   Pseudo-TORCH syndrome.
DR   MIM; 610181; phenotype.
DR   MedGen; C3489724.
DR   MedGen; CN028877.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 3.
AC   DI-00068
AR   AGS3.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Cree encephalitis.
SY   Pseudo-TORCH syndrome.
DR   MIM; 610329; phenotype.
DR   MedGen; C1835916.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 4.
AC   DI-00069
AR   AGS4.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Cree encephalitis.
SY   Pseudo-TORCH syndrome.
DR   MIM; 610333; phenotype.
DR   MedGen; C1835912.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 5.
AC   DI-02499
AR   AGS5.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Cree encephalitis.
SY   Pseudo-TORCH syndrome.
DR   MIM; 612952; phenotype.
DR   MedGen; C2749659.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 6.
AC   DI-03668
AR   AGS6.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
SY   Cree encephalitis.
SY   Pseudo-TORCH syndrome.
DR   MIM; 615010; phenotype.
DR   MedGen; C3539013.
DR   MedGen; CN164367.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 7.
AC   DI-04126
AR   AGS7.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood.
DR   MIM; 615846; phenotype.
DR   MedGen; CN188935.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Aicardi-Goutieres syndrome 8.
AC   DI-06175
AR   AGS8.
DE   A form of Aicardi-Goutieres syndrome, a genetically heterogeneous
DE   disease characterized by cerebral atrophy, leukoencephalopathy,
DE   intracranial calcifications, chronic cerebrospinal fluid (CSF)
DE   lymphocytosis, increased CSF alpha-interferon, and negative serologic
DE   investigations for common prenatal infection. Clinical features as
DE   thrombocytopenia, hepatosplenomegaly and elevated hepatic
DE   transaminases along with intermittent fever may erroneously suggest an
DE   infective process. Severe neurological dysfunctions manifest in
DE   infancy as progressive microcephaly, spasticity, dystonic posturing
DE   and profound psychomotor retardation. Death often occurs in early
DE   childhood. AGS8 inheritance is autosomal recessive.
DR   MIM; 619486; phenotype.
DR   MedGen; CN300345.
DR   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Al Kaissi syndrome.
AC   DI-05093
AR   ALKAS.
DE   An autosomal recessive developmental disorder characterized by growth
DE   retardation, spine malformation, facial dysmorphisms, and
DE   developmental delay.
SY   Growth retardation, spine malformation, dysmorphic facies, and developmental delay.
DR   MIM; 617694; phenotype.
DR   MedGen; CN502749.
DR   MeSH; D000015.
//
ID   Al-Gazali syndrome.
AC   DI-05819
AR   ALGAZ.
DE   A severe disorder characterized by prenatal growth retardation, large
DE   joints contractures, camptodactyly, bilateral talipes equinovarus,
DE   small mouth, anterior segment anomalies of the eyes, and early
DE   lethality. The transmission pattern of the disorder is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 609465; phenotype.
DR   MedGen; C1836121.
DR   MeSH; D000015.
//
ID   Al-Gazali-Bakalinova syndrome.
AC   DI-04658
AR   AGBK.
DE   An autosomal recessive syndrome consisting of macrocephaly, multiple
DE   epiphyseal dysplasia and distinctive facial appearance.
SY   Macrocephaly with multiple epiphyseal dysplasia and distinctive facies.
SY   MMEDF.
DR   MIM; 607131; phenotype.
DR   MedGen; C1846722.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Al-Raqad syndrome.
AC   DI-04480
AR   ARS.
DE   A syndrome characterized by delayed psychomotor development, moderate
DE   to severe intellectual disability, poor or absent speech,
DE   microcephaly, congenital hypotonia, and severe growth delay.
DR   MIM; 616459; phenotype.
DR   MedGen; CN231448.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Alacrima, achalasia, and impaired intellectual development syndrome.
AC   DI-03937
AR   AAMR.
DE   An autosomal recessive disorder characterized by onset of alacrima,
DE   achalasia, and intellectual disability at birth or in early infancy.
DE   More variable features include hypotonia, gait abnormalities,
DE   anisocoria, and visual or hearing deficits. The disorder shows
DE   similarity to the triple A syndrome, but patients with AAMR do not
DE   have adrenal insufficiency.
DR   MIM; 615510; phenotype.
DR   MedGen; C3809738.
DR   MedGen; CN181208.
DR   MeSH; D004931.
DR   MeSH; D007766.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Alagille syndrome 1.
AC   DI-00071
AR   ALGS1.
DE   A form of Alagille syndrome, an autosomal dominant multisystem
DE   disorder. It is clinically defined by hepatic bile duct paucity and
DE   cholestasis in association with cardiac, skeletal, and ophthalmologic
DE   manifestations. There are characteristic facial features and less
DE   frequent clinical involvement of the renal and vascular systems.
SY   Alagille syndrome.
SY   Alagille-Watson syndrome.
SY   ALGS.
SY   AWS.
SY   Cholestasis with peripheral pulmonary stenosis.
DR   MIM; 118450; phenotype.
DR   MedGen; C0085280.
DR   MedGen; C1956125.
DR   MedGen; C2930797.
DR   MeSH; D016738.
//
ID   Alagille syndrome 2.
AC   DI-00072
AR   ALGS2.
DE   A form of Alagille syndrome, an autosomal dominant multisystem
DE   disorder. It is clinically defined by hepatic bile duct paucity and
DE   cholestasis in association with cardiac, skeletal, and ophthalmologic
DE   manifestations. There are characteristic facial features and less
DE   frequent clinical involvement of the renal and vascular systems.
SY   Alagille-Watson syndrome.
SY   ALGS.
SY   AWS.
SY   Cholestasis with peripheral pulmonary stenosis.
DR   MIM; 610205; phenotype.
DR   MedGen; C1857761.
DR   MeSH; D016738.
//
ID   Alazami syndrome.
AC   DI-03653
AR   ALAZS.
DE   A syndromic form of primordial dwarfism, a condition characterized by
DE   severe growth restriction that has its onset in utero, and results in
DE   short stature and undersize. ALAZS patients manifest severe
DE   intellectual disability and distinct facial features including malar
DE   hypoplasia, deep-set eyes, broad nose, short philtrum, and
DE   macrostomia. Some patients have non-specific and inconsistent skeletal
DE   findings, for example, scoliosis and mild epiphyseal changes in the
DE   proximal phalanges, but no frank dysplasia.
SY   Facial dysmorphism intellectual disability and primordial dwarfism.
DR   MIM; 615071; phenotype.
DR   MedGen; C3554439.
DR   MedGen; CN165475.
DR   MeSH; D004392.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Alazami-Yuan syndrome.
AC   DI-04825
AR   ALYUS.
DE   An autosomal recessive syndrome reminiscent of Cornelia de Lange
DE   syndrome and characterized by delayed psychomotor development with
DE   intellectual disability, hypotonia, microcephaly, short stature, poor
DE   speech, and dysmorphic features.
DR   MIM; 617126; phenotype.
DR   MedGen; CN238513.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Albinism ocular 1.
AC   DI-02082
AR   OA1.
DE   Form of albinism affecting only the eye. Pigment of the hair and skin
DE   is normal or only slightly diluted. Eyes may be severely affected with
DE   photophobia and reduced visual acuity. Nystagmus or strabismus are
DE   often associated. The irides and fundus are depigmented.
SY   Nettleship-Falls type ocular albinism.
SY   OA-1.
DR   MIM; 300500; phenotype.
DR   MedGen; C0342684.
DR   MeSH; D016117.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 1A.
AC   DI-02088
AR   OCA1A.
DE   An autosomal recessive disorder in which the biosynthesis of melanin
DE   pigment is absent in skin, hair, and eyes. It is characterized by
DE   complete lack of tyrosinase activity due to production of an inactive
DE   enzyme. Patients present with a life-long absence of melanin pigment
DE   after birth, and manifest increased sensitivity to ultraviolet
DE   radiation with predisposition to skin cancer. Visual anomalies include
DE   decreased acuity, nystagmus, strabismus and photophobia.
SY   Albinism I.
SY   Albinism oculocutaneous IA.
SY   ATN.
SY   OCA-1A.
SY   OCA-IA.
SY   Oculocutaneous albinism tyrosinase negative.
DR   MIM; 203100; phenotype.
DR   MedGen; C0268494.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 1B.
AC   DI-02089
AR   OCA1B.
DE   An autosomal recessive disorder in which the biosynthesis of melanin
DE   pigment is reduced in skin, hair, and eyes. It is characterized by
DE   partial lack of tyrosinase activity. Patients have white hair at birth
DE   that rapidly turns yellow or blond. They manifest the development of
DE   minimal-to-moderate amounts of cutaneous and ocular pigment. Some
DE   patients may have with white hair in the warmer areas (scalp and
DE   axilla) and progressively darker hair in the cooler areas
DE   (extremities). This variant phenotype is due to a loss of tyrosinase
DE   activity above 35-37 degrees C.
SY   Albinism yellow mutant type.
SY   OCA-IB.
SY   OCA-ITS.
SY   Oculocutaneous albinism type IB.
SY   Oculocutaneous albinism type I temperature-sensitive.
SY   Yellow albinism.
DR   MIM; 606952; phenotype.
DR   MedGen; C1847024.
DR   MedGen; C1847132.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 2.
AC   DI-02085
AR   OCA2.
DE   An autosomal recessive disorder in which the biosynthesis of melanin
DE   pigment is reduced in skin, hair, and eyes. Although affected infants
DE   may appear at birth to have complete absence of melanin pigment, most
DE   patients acquire small amounts of pigment with age. Visual anomalies
DE   include decreased acuity and nystagmus. The phenotype is highly
DE   variable. The hair of affected individuals may turn darker with age,
DE   and pigmented nevi or freckles may be seen. African and African
DE   American individuals may have yellow hair and blue-gray or hazel
DE   irides. One phenotypic variant, 'brown OCA,' has been described in
DE   African and African American populations and is characterized by light
DE   brown hair and skin color and gray to tan irides.
SY   Albinism II.
SY   BOCA.
SY   Brown oculocutaneous albinism.
SY   OCA-2.
SY   Oculocutaneous albinism type II.
SY   Oculocutaneous albinism tyrosinase-positive.
DR   MIM; 203200; phenotype.
DR   MedGen; C0268495.
DR   MedGen; C0268497.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 3.
AC   DI-02090
AR   OCA3.
DE   An autosomal recessive disorder in which the biosynthesis of melanin
DE   pigment is reduced in skin, hair, and eyes. Tyrosinase activity is
DE   normal and patients have only moderate reduction of pigment. The eyes
DE   present red reflex on transillumination of the iris, dilution of color
DE   of iris, nystagmus and strabismus. Darker-skinned individuals have
DE   bright copper-red coloration of the skin and hair.
SY   Albinism III.
SY   OCA-III.
SY   Oculocutaneous albinism type III.
SY   ROCA.
SY   Rufous oculocutaneous albinism.
SY   Xanthism.
DR   MIM; 203290; phenotype.
DR   MedGen; C0342683.
DR   MedGen; C1859932.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 4.
AC   DI-02086
AR   OCA4.
DE   A disorder of pigmentation characterized by reduced biosynthesis of
DE   melanin in the skin, hair and eyes. Patients show reduced or lacking
DE   pigmentation associated with classic albinism ocular abnormalities,
DE   including decreased visual acuity, macular hypoplasia, optic
DE   dysplasia, atypical choroidal vessels, and nystagmus.
SY   Oculocutaneous albinism type IV.
DR   MIM; 606574; phenotype.
DR   MedGen; C1847836.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 6.
AC   DI-03840
AR   OCA6.
DE   A disorder characterized by a reduction or complete loss of melanin in
DE   the skin, hair and eyes. Patients show reduced or lacking pigmentation
DE   often accompanied by eye symptoms such as photophobia, strabismus,
DE   moderate to severe visual impairment, and nystagmus.
SY   Oculocutaneous albinism type VI.
DR   MIM; 113750; phenotype.
DR   MedGen; C2676042.
DR   MedGen; C3805375.
DR   MedGen; CN178543.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 7.
AC   DI-03749
AR   OCA7.
DE   A disorder of pigmentation characterized by reduced biosynthesis of
DE   melanin in the skin, hair and eyes. Patients show reduced or lacking
DE   pigmentation associated with classic albinism ocular abnormalities,
DE   including decreased visual acuity, macular hypoplasia, optic
DE   dysplasia, atypical choroidal vessels, and nystagmus.
SY   Oculocutaneous albinism type VII.
DR   MIM; 615179; phenotype.
DR   MedGen; C3554632.
DR   MedGen; CN169528.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albinism, oculocutaneous, 8.
AC   DI-06011
AR   OCA8.
DE   A form of oculocutaneous albinism, a disorder of pigmentation
DE   characterized by reduced biosynthesis of melanin in the skin, hair and
DE   eyes. OCA8 is an autosomal recessive form characterized by mild hair
DE   and skin hypopigmentation, associated with ocular features including
DE   nystagmus, reduced visual acuity, iris transillumination, and
DE   hypopigmentation of the retina.
SY   Oculocutaneous albinism, type VIII.
DR   MIM; 619165; phenotype.
DR   MedGen; CN295224.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
//
ID   Albright hereditary osteodystrophy.
AC   DI-00073
AR   AHO.
DE   A disorder characterized by short stature, obesity, round facies,
DE   brachydactyly and subcutaneous calcification. It is often associated
DE   with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels.
DR   MIM; 103580; phenotype.
DR   MeSH; D011547.
KW   KW-0242:Dwarfism.
KW   KW-0550:Obesity.
//
ID   Alexander disease.
AC   DI-00074
AR   ALXDRD.
DE   A rare disorder of the central nervous system. The most common form
DE   affects infants and young children, and is characterized by
DE   progressive failure of central myelination, usually leading to death
DE   within the first decade. Infants with Alexander disease develop a
DE   leukodystrophy with macrocephaly, seizures, and psychomotor
DE   retardation. Patients with juvenile or adult forms typically
DE   experience ataxia, bulbar signs and spasticity, and a more slowly
DE   progressive course. Histologically, Alexander disease is characterized
DE   by Rosenthal fibers, homogeneous eosinophilic inclusions in
DE   astrocytes.
SY   Alexander's disease.
DR   MIM; 203450; phenotype.
DR   MedGen; C0270726.
DR   MeSH; D038261.
KW   KW-1026:Leukodystrophy.
//
ID   Alkaptonuria.
AC   DI-00077
AR   AKU.
DE   An autosomal recessive error of metabolism characterized by an
DE   increase in the level of homogentisic acid. The clinical
DE   manifestations are urine that turns dark on standing and
DE   alkalinization, black ochronotic pigmentation of cartilage and
DE   collagenous tissues, and spine arthritis.
SY   Homogentisic acid oxidase deficiency.
DR   MIM; 203500; phenotype.
DR   MedGen; C0002066.
DR   MeSH; D000474.
//
ID   Alkuraya-Kucinskas syndrome.
AC   DI-05169
AR   ALKKUCS.
DE   An autosomal recessive syndrome characterized by brain atrophy and
DE   arthrogryposis. Patients present with cerebral parenchymal
DE   underdevelopment, lissencephaly, severe to mild ventriculomegaly, and
DE   cerebellar hypoplasia with brainstem dysgenesis. Most affected
DE   individuals die in utero or soon after birth. The few patients who
DE   survive have variable intellectual disability and may have seizures.
DE   Facial dysmorphism, cardiac and ophthalmologic anomalies, such as
DE   microphthalmia and cataract, are additional features.
DR   MIM; 617822; phenotype.
DR   MedGen; CN737163.
DR   MeSH; D001176.
DR   MeSH; D009421.
//
ID   Allergic rhinitis.
AC   DI-02868
AR   ALRH.
DE   A common disease with complex inheritance characterized by mucosal
DE   inflammation caused by allergen exposure.
DR   MIM; 607154; phenotype.
DR   MedGen; C2607914.
DR   MeSH; D006255.
DR   MeSH; D012221.
//
ID   Alopecia universalis congenita.
AC   DI-00078
AR   ALUNC.
DE   A rare disorder characterized by loss of hair from the entire body. No
DE   hair are present in hair follicles on skin biopsy.
SY   Alopecia universalis.
SY   Atrichia generalized.
DR   MIM; 203655; phenotype.
DR   MedGen; C1859877.
DR   MeSH; D000505.
KW   KW-1063:Hypotrichosis.
//
ID   Alopecia, neurologic defects, and endocrinopathy syndrome.
AC   DI-01178
AR   ANES.
DE   Affected individuals have hair loss of variable severity, ranging from
DE   complete alopecia to near-normal scalp hair with absence of body hair.
DE   All have moderate to severe intellectual disability, progressive motor
DE   deterioration and central hypogonadotropic hypogonadism with delayed
DE   or absent puberty and central adrenal insufficiency. Additional
DE   features included short stature, microcephaly, gynecomastia,
DE   pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of
DE   the hands, and loss of subcutaneous fat.
SY   Alopecia-progressive neurological defect-endocrinopathy.
SY   ANE syndrome.
DR   MIM; 612079; phenotype.
DR   MedGen; C2677535.
DR   MeSH; D000505.
DR   MeSH; D004700.
DR   MeSH; D009422.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Alopecia-intellectual disability syndrome 1.
AC   DI-05180
AR   APMR1.
DE   A rare autosomal recessive form of alopecia. APMR1 patients show loss
DE   of hair on the scalp, absence of eyebrows, eyelashes, axillary and
DE   pubic hair, and mild to severe intellectual disability.
SY   Alopecia with severe intellectual deficit.
SY   AMR syndrome.
SY   AMR syndrome 1.
DR   MIM; 203650; phenotype.
DR   MedGen; C1859878.
DR   MeSH; D000505.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Alopecia-intellectual disability syndrome 4.
AC   DI-05812
AR   APMR4.
DE   An autosomal recessive disorder characterized by alopecia universalis,
DE   scaly skin, mild to severe intellectual disability, delayed or absent
DE   speech, and motor delay.
DR   MIM; 618840; phenotype.
DR   MedGen; CN272916.
DR   MeSH; D000505.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Alpha-1-antitrypsin deficiency.
AC   DI-02928
AR   A1ATD.
DE   A disorder whose most common manifestation is emphysema, which becomes
DE   evident by the third to fourth decade. A less common manifestation of
DE   the deficiency is liver disease, which occurs in children and adults,
DE   and may result in cirrhosis and liver failure. Environmental factors,
DE   particularly cigarette smoking, greatly increase the risk of emphysema
DE   at an earlier age.
DR   MIM; 613490; phenotype.
DR   MedGen; C0221757.
DR   MeSH; D019896.
//
ID   Alpha-2-plasmin inhibitor deficiency.
AC   DI-00075
AR   APLID.
DE   An autosomal recessive disorder resulting in severe hemorrhagic
DE   diathesis.
SY   Antiplasmin deficiency.
SY   Plasmin inhibitor deficiency.
DR   MIM; 262850; phenotype.
DR   MedGen; C2752081.
DR   MeSH; D006474.
//
ID   Alpha-aminoadipic and alpha-ketoadipic aciduria.
AC   DI-03673
AR   AAKAD.
DE   An autosomal recessive metabolic disorder characterized by increased
DE   levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated
DE   2-aminoadipate in the plasma. Patients can have mild to severe
DE   intellectual disability, muscular hypotonia, developmental delay,
DE   ataxia, and epilepsy. Most cases are asymptomatic.
SY   2-aminoadipic 2-oxoadipic aciduria.
SY   2-ketoadipic aciduria.
SY   AMOXAD.
DR   MIM; 204750; phenotype.
DR   MedGen; C1859817.
DR   MeSH; D000592.
//
ID   Alpha-fetoprotein deficiency.
AC   DI-04204
AR   AFPD.
DE   A benign condition characterized by undetectable AFP levels in the
DE   amniotic fluid. Affected individuals are asymptomatic and present
DE   normal development.
DR   MIM; 615969; phenotype.
DR   MedGen; C1863081.
DR   MeSH; D008661.
//
ID   Alpha-fetoprotein, hereditary persistence.
AC   DI-04205
AR   HPAFP.
DE   A benign autosomal dominant condition characterized by continued
DE   expression of alpha-fetoprotein in adult life.
DR   MIM; 615970; phenotype.
DR   MedGen; C1863080.
DR   MeSH; D008661.
//
ID   Alpha-methylacyl-CoA racemase deficiency.
AC   DI-00076
AR   AMACRD.
DE   A rare autosomal recessive peroxisomal disorder characterized by
DE   elevated plasma concentrations of pristanic acid C27-bile-acid
DE   intermediates, and adult onset of variable neurodegenerative symptoms
DE   affecting the central and peripheral nervous systems. Features may
DE   include seizures, visual failure, sensorimotor neuropathy, spasticity,
DE   migraine, and white matter hyperintensities on brain imaging.
SY   AMACR deficiency.
DR   MIM; 614307; phenotype.
DR   MedGen; C1858325.
DR   MedGen; C3280428.
DR   MeSH; D018901.
//
ID   Alpha-thalassemia.
AC   DI-01181
AR   A-THAL.
DE   A form of thalassemia. Thalassemias are common monogenic diseases
DE   occurring mostly in Mediterranean and Southeast Asian populations. The
DE   hallmark of alpha-thalassemia is an imbalance in globin-chain
DE   production in the adult HbA molecule. The level of alpha chain
DE   production can range from none to very nearly normal levels. Deletion
DE   of both copies of each of the two alpha-globin genes causes alpha(0)-
DE   thalassemia, also known as homozygous alpha thalassemia. Due to the
DE   complete absence of alpha chains, the predominant fetal hemoglobin is
DE   a tetramer of gamma-chains (Bart hemoglobin) that has essentially no
DE   oxygen carrying capacity. This causes oxygen starvation in the fetal
DE   tissues leading to prenatal lethality or early neonatal death. The
DE   loss of two alpha genes results in mild alpha-thalassemia, also known
DE   as heterozygous alpha-thalassemia. Affected individuals have small red
DE   cells and a mild anemia (microcytosis). If three of the four alpha-
DE   globin genes are functional, individuals are completely asymptomatic.
DE   Some rare forms of alpha-thalassemia are due to point mutations (non-
DE   deletional alpha-thalassemia).
DR   MIM; 604131; phenotype.
DR   MedGen; C0002312.
DR   MeSH; D017085.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Alpha-thalassemia myelodysplasia syndrome.
AC   DI-01180
AR   ATMDS.
DE   A disorder characterized by hypochromic, microcytic red blood cells,
DE   hemoglobin H detected in peripheral blood, and multilineage
DE   myelodysplasia.
SY   Acquired alpha-thalassemia with myelodysplastic syndrome.
SY   Hemoglobin H disease acquired.
DR   MIM; 300448; phenotype.
DR   MedGen; C0585216.
DR   MeSH; D009190.
DR   MeSH; D017085.
//
ID   Alpha-thalassemia/impaired intellectual development syndrome, X-linked.
AC   DI-02428
AR   ATRX.
DE   A disorder characterized by severe psychomotor retardation, facial
DE   dysmorphism, urogenital abnormalities, and alpha-thalassemia. An
DE   essential phenotypic trait are hemoglobin H erythrocyte inclusions.
SY   ATR nondeletion type.
SY   ATR-X.
SY   ATR-X syndrome.
DR   MIM; 301040; phenotype.
DR   MedGen; C1845055.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.
AC   DI-01182
AR   T-CMVA.
DE   An immunological disorder characterized by oligoclonal expansion of
DE   TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe,
DE   disseminated cytomegalovirus infection and autoimmune cytopenia.
DR   MIM; 609889; phenotype.
DR   MedGen; C1835931.
DR   MeSH; D008231.
DR   MeSH; D015551.
//
ID   Alport syndrome 1, X-linked.
AC   DI-00082
AR   ATS1.
DE   A syndrome that is characterized by progressive glomerulonephritis,
DE   renal failure, sensorineural deafness, specific eye abnormalities
DE   (lenticonous and macular flecks), and glomerular basement membrane
DE   defects. The disorder shows considerable heterogeneity in that
DE   families differ in the age of end-stage renal disease and the
DE   occurrence of deafness.
SY   Nephritis-deafness syndrome, X-linked.
SY   Nephropathy and deafness, X-linked.
DR   MIM; 301050; phenotype.
DR   MedGen; C0403444.
DR   MedGen; C1567742.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alport syndrome 2, autosomal recessive.
AC   DI-00080
AR   ATS2.
DE   A syndrome characterized by progressive glomerulonephritis, glomerular
DE   basement membrane defects, renal failure, sensorineural deafness and
DE   specific eye abnormalities (lenticonous and macular flecks). The
DE   disorder shows considerable heterogeneity in that families differ in
DE   the age of end-stage renal disease and the occurrence of deafness.
DR   MIM; 203780; phenotype.
DR   MedGen; C1567744.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alport syndrome 3A, autosomal dominant.
AC   DI-02831
AR   ATS3A.
DE   A form of Alport syndrome, a syndrome characterized by progressive
DE   glomerulonephritis, glomerular basement membrane defects, renal
DE   failure, sensorineural deafness and specific eye abnormalities
DE   (lenticonous and macular flecks). The disorder shows considerable
DE   heterogeneity in that families differ in the age of end-stage renal
DE   disease and the occurrence of deafness.
SY   Nephritis-deafness syndrome.
SY   Nephropathy and deafness.
DR   MIM; 104200; phenotype.
DR   MedGen; C1567743.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alstrom syndrome.
AC   DI-00083
AR   ALMS.
DE   A rare autosomal recessive disorder characterized by progressive cone-
DE   rod retinal dystrophy, neurosensory hearing loss, early childhood
DE   obesity and diabetes mellitus type 2. Dilated cardiomyopathy,
DE   acanthosis nigricans, male hypogonadism, hypothyroidism, developmental
DE   delay and hepatic dysfunction can also be associated with the
DE   syndrome.
SY   Alstroem syndrome.
DR   MIM; 203800; phenotype.
DR   MedGen; C0268425.
DR   MeSH; D056769.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
KW   KW-1186:Ciliopathy.
//
ID   Alternating hemiplegia of childhood 1.
AC   DI-00084
AR   AHC1.
DE   A rare syndrome of episodic hemi- or quadriplegia lasting minutes to
DE   days. Most cases are accompanied by dystonic posturing, choreoathetoid
DE   movements, nystagmus, other ocular motor abnormalities, autonomic
DE   disturbances, and progressive cognitive impairment. It is typically
DE   distinguished from familial hemiplegic migraine by infantile onset and
DE   high prevalence of associated neurological deficits that become
DE   increasingly obvious with age.
DR   MIM; 104290; phenotype.
DR   MedGen; C0338488.
DR   MedGen; C3549447.
DR   MeSH; D006429.
//
ID   Alternating hemiplegia of childhood 2.
AC   DI-03527
AR   AHC2.
DE   A rare syndrome of episodic hemi- or quadriplegia lasting minutes to
DE   days. Most cases are accompanied by dystonic posturing, choreoathetoid
DE   movements, nystagmus, other ocular motor abnormalities, autonomic
DE   disturbances, and progressive cognitive impairment. It is typically
DE   distinguished from familial hemiplegic migraine by infantile onset and
DE   high prevalence of associated neurological deficits that become
DE   increasingly obvious with age.
DR   MIM; 614820; phenotype.
DR   MedGen; C3553788.
DR   MedGen; CN143722.
DR   MeSH; D006429.
//
ID   Alveolar capillary dysplasia with misalignment of pulmonary veins.
AC   DI-02714
AR   ACDMPV.
DE   A rare developmental disorder characterized by abnormal development of
DE   the capillary vascular system in the lungs. Histological features
DE   include failure of formation and ingrowth of alveolar capillaries,
DE   medial muscular thickening of small pulmonary arterioles with
DE   muscularization of the intraacinar arterioles, thickened alveolar
DE   walls, and anomalously situated pulmonary veins running alongside
DE   pulmonary arterioles and sharing the same adventitial sheath. Less
DE   common features include a reduced number of alveoli and a patchy
DE   distribution of the histopathologic changes. Affected infants present
DE   with respiratory distress and the disease is fatal within the newborn
DE   period. Additional features include multiple congenital anomalies
DE   affecting the cardiovascular, gastrointestinal, genitourinary, and
DE   musculoskeletal systems, as well as disruption of the normal right-
DE   left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a
DE   rare cause of persistent pulmonary hypertension of the newborn, an
DE   abnormal physiologic state caused by failure of transition of the
DE   pulmonary circulation from the high pulmonary vascular resistance of
DE   the fetus to the low pulmonary vascular resistance of the newborn.
SY   ACD.
SY   Alveolar capillary dysplasia.
SY   Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies.
DR   MIM; 265380; phenotype.
DR   MedGen; C0031190.
DR   MeSH; D010547.
//
ID   Alzahrani-Kuwahara syndrome.
AC   DI-06078
AR   ALKUS.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay, impaired intellectual function, poor or absent
DE   speech, microcephaly, and facial dysmorphism. Additional variable
DE   features include early-onset cataracts, hypotonia, lower limb
DE   spasticity, and congenital heart malformations.
SY   Neurodevelopmental disorder with dysmorphic facies and cataracts.
DR   MIM; 619268; phenotype.
DR   MedGen; CN296411.
DR   MeSH; D065886.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Alzheimer disease.
AC   DI-03832
AR   AD.
DE   Alzheimer disease is a neurodegenerative disorder characterized by
DE   progressive dementia, loss of cognitive abilities, and deposition of
DE   fibrillar amyloid proteins as intraneuronal neurofibrillary tangles,
DE   extracellular amyloid plaques and vascular amyloid deposits. The major
DE   constituents of these plaques are neurotoxic amyloid-beta protein 40
DE   and amyloid-beta protein 42, that are produced by the proteolysis of
DE   the transmembrane APP protein. The cytotoxic C-terminal fragments
DE   (CTFs) and the caspase-cleaved products, such as C31, are also
DE   implicated in neuronal death.
SY   Presenile and senile dementia.
DR   MIM; 104300; phenotype.
DR   MedGen; C0002395.
DR   MedGen; C1541844.
DR   MedGen; C1863053.
DR   MedGen; C3549448.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 1.
AC   DI-00085
AR   AD1.
DE   A form of Alzheimer disease, a neurodegenerative disorder
DE   characterized by progressive dementia, loss of cognitive abilities,
DE   and deposition of fibrillar amyloid proteins as intraneuronal
DE   neurofibrillary tangles, extracellular amyloid plaques and vascular
DE   amyloid deposits. The major constituents of these plaques are
DE   neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that
DE   are produced by the proteolysis of the transmembrane APP protein. The
DE   cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved
DE   products, such as C31, are also implicated in neuronal death. It can
DE   be associated with cerebral amyloid angiopathy. Alzheimer disease can
DE   be associated with cerebral amyloid angiopathy.
SY   Autosomal dominant Alzheimer disease.
SY   Early-onset Alzheimer disease with cerebral amyloid angiopathy.
DR   MIM; 104300; phenotype.
DR   MedGen; C1863052.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 18.
AC   DI-04003
AR   AD18.
DE   A late-onset form of Alzheimer disease. Alzheimer disease is a
DE   neurodegenerative disorder characterized by progressive dementia, loss
DE   of cognitive abilities, and deposition of fibrillar amyloid proteins
DE   as intraneuronal neurofibrillary tangles, extracellular amyloid
DE   plaques and vascular amyloid deposits. The major constituents of these
DE   plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE   protein 42, that are produced by the proteolysis of the transmembrane
DE   APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE   caspase-cleaved products, such as C31, are also implicated in neuronal
DE   death.
SY   Alzheimer disease 18 late-onset.
DR   MIM; 615590; phenotype.
DR   MedGen; C3810041.
DR   MedGen; CN183072.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 19.
AC   DI-04047
AR   AD19.
DE   A late-onset form of Alzheimer disease. Alzheimer disease is a
DE   neurodegenerative disorder characterized by progressive dementia, loss
DE   of cognitive abilities, and deposition of fibrillar amyloid proteins
DE   as intraneuronal neurofibrillary tangles, extracellular amyloid
DE   plaques and vascular amyloid deposits. The major constituents of these
DE   plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE   protein 42, that are produced by the proteolysis of the transmembrane
DE   APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE   caspase-cleaved products, such as C31, are also implicated in neuronal
DE   death.
SY   Late-onset Alzheimer disease.
DR   MIM; 615711; phenotype.
DR   MedGen; C3810349.
DR   MedGen; CN185377.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 2.
AC   DI-02694
AR   AD2.
DE   A late-onset form of Alzheimer disease. Alzheimer disease is a
DE   neurodegenerative disorder characterized by progressive dementia, loss
DE   of cognitive abilities, and deposition of fibrillar amyloid proteins
DE   as intraneuronal neurofibrillary tangles, extracellular amyloid
DE   plaques and vascular amyloid deposits. The major constituents of these
DE   plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta
DE   protein 42, that are produced by the proteolysis of the transmembrane
DE   APP protein. The cytotoxic C-terminal fragments (CTFs) and the
DE   caspase-cleaved products, such as C31, are also implicated in neuronal
DE   death.
SY   Alzheimer disease associated with APOE4.
SY   Late-onset Alzheimer disease.
DR   MIM; 104310; phenotype.
DR   MedGen; C1863051.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 3.
AC   DI-00086
AR   AD3.
DE   A familial early-onset form of Alzheimer disease. Alzheimer disease is
DE   a neurodegenerative disorder characterized by progressive dementia,
DE   loss of cognitive abilities, and deposition of fibrillar amyloid
DE   proteins as intraneuronal neurofibrillary tangles, extracellular
DE   amyloid plaques and vascular amyloid deposits. The major constituents
DE   of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE   beta protein 42, that are produced by the proteolysis of the
DE   transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE   and the caspase-cleaved products, such as C31, are also implicated in
DE   neuronal death.
SY   Early-onset familial Alzheimer disease 3.
SY   Familial Alzheimer disease 3.
SY   Familial Alzheimer disease 3 with spastic paraparesis and apraxia.
SY   Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques.
DR   MIM; 607822; phenotype.
DR   MedGen; C1843013.
DR   MedGen; C1843014.
DR   MedGen; C1843015.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 4.
AC   DI-00087
AR   AD4.
DE   A familial early-onset form of Alzheimer disease. Alzheimer disease is
DE   a neurodegenerative disorder characterized by progressive dementia,
DE   loss of cognitive abilities, and deposition of fibrillar amyloid
DE   proteins as intraneuronal neurofibrillary tangles, extracellular
DE   amyloid plaques and vascular amyloid deposits. The major constituents
DE   of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE   beta protein 42, that are produced by the proteolysis of the
DE   transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE   and the caspase-cleaved products, such as C31, are also implicated in
DE   neuronal death.
SY   Alzheimer disease, familial, 4.
DR   MIM; 606889; phenotype.
DR   MedGen; C1847200.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease 9.
AC   DI-04711
AR   AD9.
DE   A familial, late-onset form of Alzheimer disease. Alzheimer disease is
DE   a neurodegenerative disorder characterized by progressive dementia,
DE   loss of cognitive abilities, and deposition of fibrillar amyloid
DE   proteins as intraneuronal neurofibrillary tangles, extracellular
DE   amyloid plaques and vascular amyloid deposits. The major constituents
DE   of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-
DE   beta protein 42, that are produced by the proteolysis of the
DE   transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs)
DE   and the caspase-cleaved products, such as C31, are also implicated in
DE   neuronal death.
DR   MIM; 608907; phenotype.
DR   MedGen; C1837149.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   Alzheimer disease mitochondrial.
AC   DI-02761
AR   AD-MT.
DE   Alzheimer disease is a neurodegenerative disorder characterized by
DE   progressive dementia, loss of cognitive abilities, and deposition of
DE   fibrillar amyloid proteins as intraneuronal neurofibrillary tangles,
DE   extracellular amyloid plaques and vascular amyloid deposits. The major
DE   constituents of these plaques are neurotoxic amyloid-beta protein 40
DE   and amyloid-beta protein 42, that are produced by the proteolysis of
DE   the transmembrane APP protein. The cytotoxic C-terminal fragments
DE   (CTFs) and the caspase-cleaved products, such as C31, are also
DE   implicated in neuronal death.
DR   MIM; 502500; phenotype.
DR   MedGen; C1838990.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
ID   AMED syndrome, digenic.
AC   DI-06008
AR   AMEDS.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. AMEDS is an autosomal recessive, digenic form
DE   characterized by childhood onset of bone marrow failure resulting in
DE   aplastic anemia, in association with global developmental delay,
DE   intellectual disability, and poor overall growth with short stature.
SY   ADDS.
SY   Aldehyde degradation deficiency syndrome.
SY   BMFS7.
SY   Bone marrow failure syndrome 7, digenic.
DR   MIM; 619151; phenotype.
DR   MedGen; CN295213.
DR   MeSH; D000080983.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Amegakaryocytic thrombocytopenia, congenital, 1.
AC   DI-01388
AR   CAMT1.
DE   An autosomal recessive form of congenital amegakaryocytic
DE   thrombocytopenia, an hematologic disorder characterized by severe
DE   reduction of megakaryocytes and platelets at birth, and evolving into
DE   generalized bone marrow aplasia during childhood.
DR   MIM; 604498; phenotype.
DR   MedGen; C1327915.
DR   MeSH; D000080984.
DR   MeSH; D013921.
//
ID   Amegakaryocytic thrombocytopenia, congenital, 2.
AC   DI-06746
AR   CAMT2.
DE   A form of congenital amegakaryocytic thrombocytopenia, an hematologic
DE   disorder characterized by severe reduction of megakaryocytes and
DE   platelets at birth, and evolving into generalized bone marrow aplasia
DE   during childhood. CAMT2 is an autosomal recessive form. Most patients
DE   present with thrombocytopenia that progresses to pancytopenia.
DR   MIM; 620481; phenotype.
DR   MedGen; CN372721.
DR   MeSH; D000080984.
DR   MeSH; D013921.
//
ID   Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.
AC   DI-05747
AR   PAPPAS.
DE   An autosomal recessive, lethal embryonic syndrome characterized by
DE   absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent
DE   pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia.
DR   MIM; 601360; phenotype.
DR   MedGen; C1832432.
DR   MeSH; D004480.
//
ID   Amelogenesis imperfecta 1A.
AC   DI-04344
AR   AI1A.
DE   A form of amelogenesis imperfecta, a disorder characterized by
DE   defective enamel formation. The enamel may be hypoplastic,
DE   hypomineralized or both, and affected teeth may be discoloured,
DE   sensitive or prone to disintegration.
SY   Amelogenesis imperfecta, hypoplastic type IA.
SY   Amelogenesis imperfecta type IA.
DR   MIM; 104530; phenotype.
DR   MedGen; C0399367.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1B.
AC   DI-00089
AR   AI1B.
DE   An autosomal dominant defect of enamel formation. Clinical
DE   manifestations may be variable. Some cases present with generalized
DE   enamel hypoplasia resulting in small, smooth, yellow and widely spaced
DE   teeth (smooth hypoplastic AI). Others show horizontal rows of pits,
DE   grooves or a hypoplastic area in the enamel (local hypoplastic AI).
SY   AIH2.
SY   Amelogenesis imperfecta hypoplastic 2.
SY   Amelogenesis imperfecta hypoplastic local autosomal dominant.
SY   Amelogenesis imperfecta type IB.
SY   Hereditary localized enamel hypoplasia.
DR   MIM; 104500; phenotype.
DR   MedGen; C0399368.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1C.
AC   DI-00090
AR   AI1C.
DE   An autosomal recessive defect of dental enamel formation. Teeth show
DE   local hypoplastic and unmineralized enamel, and a yellow-brown
DE   discoloration. Enamel defects can be associated with facial and oral
DE   features including vertical dysgnathia and anterior openbite
DE   malocclusion.
SY   Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive.
SY   Amelogenesis imperfecta local hypoplastic type autosomal recessive.
SY   Amelogenesis imperfecta type IC.
DR   MIM; 204650; phenotype.
DR   MedGen; C2673923.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1E.
AC   DI-00088
AR   AI1E.
DE   An X-linked defect of dental enamel formation. Teeth have only a thin
DE   layer of enamel with normal hardness. The thinness of the enamel makes
DE   the teeth appear small.
SY   AIH1.
SY   Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E.
SY   Amelogenesis imperfecta hypomaturation type with snow-capped teeth.
SY   Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1.
SY   Amelogenesis imperfecta type IE.
SY   Enamel hypoplasia X-linked.
SY   XAI.
SY   X-linked amelogenesis imperfecta.
DR   MIM; 301200; phenotype.
DR   MedGen; C1845052.
DR   MedGen; C1845053.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1F.
AC   DI-04358
AR   AI1F.
DE   A form of amelogenesis imperfecta, a disorder characterized by
DE   defective enamel formation. The enamel may be hypoplastic,
DE   hypomineralized or both, and affected teeth may be discoloured,
DE   sensitive or prone to disintegration. AI1F is characterized by
DE   hypoplastic enamel of the primary and secondary dentition.
SY   Amelogenesis imperfecta, hypoplastic type IF.
SY   Amelogenesis imperfecta type IF.
DR   MIM; 616270; phenotype.
DR   MedGen; CN228593.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1G.
AC   DI-04208
AR   AI1G.
DE   A disorder characterized by dental anomalies, gingival overgrowth, and
DE   nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis
DE   imperfecta, intrapulpal calcifications, delay of tooth eruption,
DE   hypodontia/oligodontia, pericoronal radiolucencies and unerupted
DE   teeth.
SY   AIGFS.
SY   Amelogenesis imperfecta and gingival fibromatosis syndrome.
SY   Enamel-renal-gingival syndrome.
SY   Enamel-renal syndrome.
SY   ERS.
SY   Hypoplastic amelogenesis imperfecta with nephrocalcinosis.
DR   MIM; 204690; phenotype.
DR   MedGen; C2931783.
DR   MeSH; D000567.
DR   MeSH; D005351.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1H.
AC   DI-04338
AR   AI1H.
DE   A disorder characterized by defective enamel formation, resulting in
DE   hypoplastic and hypomineralized tooth enamel that may be rough,
DE   pitted, and/or discolored.
SY   Amelogenesis imperfecta, type 1H.
DR   MIM; 616221; phenotype.
DR   MedGen; CN225925.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1J.
AC   DI-04931
AR   AI1J.
DE   A form of amelogenesis imperfecta, a disorder characterized by
DE   defective enamel formation. The enamel may be hypoplastic,
DE   hypomineralized or both, and affected teeth may be discoloured,
DE   sensitive or prone to disintegration. AI1J is an autosomal recessive
DE   form characterized by hypoplastic enamel, enamel discolorization
DE   ranging from yellow to black, and normal dentin.
DR   MIM; 617297; phenotype.
DR   MedGen; CN239948.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1K.
AC   DI-06535
AR   AI1K.
DE   A form of amelogenesis imperfecta, a disorder characterized by
DE   defective enamel formation. The enamel may be hypoplastic,
DE   hypomineralized or both, and affected teeth may be discoloured,
DE   sensitive or prone to disintegration. AI1K is an autosomal dominant
DE   form characterized by hypoplastic enamel in all teeth.
SY   Amelogenesis imperfecta, hypoplastic type IK.
DR   MIM; 620104; phenotype.
DR   MedGen; CN322364.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 3A.
AC   DI-00093
AR   AI3A.
DE   An autosomal dominant hypomineralized form of amelogenesis imperfecta,
DE   a defect of enamel formation. AI3A is characterized by enamel of
DE   normal thickness but soft and with cheesy consistency. Enamel is lost
DE   from tooth soon after eruption.
SY   ADHCAI.
SY   Amelogenesis imperfecta hypocalcification type autosomal dominant.
SY   Amelogenesis imperfecta hypomineralization type.
SY   Amelogenesis imperfecta type III.
DR   MIM; 130900; phenotype.
DR   MedGen; C0399376.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 3B.
AC   DI-05066
AR   AI3B.
DE   An autosomal dominant form of amelogenesis imperfecta, a defect of
DE   enamel formation. AI3B is characterized by hypomineralized enamel that
DE   has reduced tickness and exhibits structural defects.
SY   Amelogenesis imperfecta, type IIIB.
DR   MIM; 617607; phenotype.
DR   MedGen; CN373594.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 3C.
AC   DI-05533
AR   AI3C.
DE   An autosomal recessive form of amelogenesis imperfecta, a defect of
DE   enamel formation. AI3C is characterized by generalized enamel
DE   hypocalcification affecting primary and secondary dentition. The
DE   surface of the enamel is rough and often stained. After eruption, the
DE   occlusal enamel on the molars disappears due to attrition, leaving a
DE   ring of intact enamel remaining on the sides.
SY   Amelogenesis imperfecta, hypocalcification type, autosomal recessive.
SY   Amelogenesis imperfecta, type IIIC.
DR   MIM; 618386; phenotype.
DR   MedGen; CN258278.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 4.
AC   DI-00094
AR   AI4.
DE   An autosomal dominant defect of enamel formation associated with
DE   enlarged pulp chambers. Enamel is thin, teeth are small and widely
DE   spaced.
SY   AIHHT.
SY   AIT.
SY   Amelogenesis imperfecta 2 hypocalcification type.
SY   Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism.
SY   Amelogenesis imperfecta hypomineralization type.
SY   Amelogenesis imperfecta type IV.
SY   Amelogenesis imperfecta with taurodontism.
DR   MIM; 104510; phenotype.
DR   MedGen; C1863012.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A1.
AC   DI-00091
AR   AI2A1.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
SY   AIPH.
SY   Amelogenesis imperfecta 2 hypocalcification type.
SY   Amelogenesis imperfecta hypomineralization type.
SY   Amelogenesis imperfecta pigmented hypomaturation type 1.
DR   MIM; 204700; phenotype.
DR   MedGen; C2673922.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A2.
AC   DI-00092
AR   AI2A2.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
SY   Amelogenesis imperfecta 2 hypocalcification type.
SY   Amelogenesis imperfecta pigmented hypomaturation type 2.
DR   MIM; 612529; phenotype.
DR   MedGen; C2675858.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A3.
AC   DI-02570
AR   AI2A3.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
SY   Amelogenesis imperfecta hypomaturation type IIA3.
DR   MIM; 613211; phenotype.
DR   MedGen; C2750771.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A4.
AC   DI-03537
AR   AI2A4.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
SY   Amelogenesis imperfecta pigmented hypomaturation type IIA4.
DR   MIM; 614832; phenotype.
DR   MedGen; C3553830.
DR   MedGen; CN143956.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A5.
AC   DI-04153
AR   AI2A5.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
DR   MIM; 615887; phenotype.
DR   MedGen; CN191988.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta, hypomaturation type, 2A6.
AC   DI-04871
AR   AI2A6.
DE   A defect of enamel formation. The disorder involves both primary and
DE   secondary dentitions. The teeth have a shiny agar jelly appearance and
DE   the enamel is softer than normal. Brown pigment is present in middle
DE   layers of enamel.
SY   Amelogenesis imperfecta, hypomaturation type, IIA6.
DR   MIM; 617217; phenotype.
DR   MedGen; CN239111.
DR   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Aminoacylase-1 deficiency.
AC   DI-00095
AR   ACY1D.
DE   An enzymatic deficiency resulting in encephalopathy, unspecific
DE   psychomotor delay, psychomotor delay with atrophy of the vermis and
DE   syringomyelia, marked muscular hypotonia or normal clinical features.
DE   Epileptic seizures are a frequent feature. All affected individuals
DE   exhibit markedly increased urinary excretion of several N-acetylated
DE   amino acids.
SY   Encephalopathy associated with aminoacylase 1 deficiency.
DR   MIM; 609924; phenotype.
DR   MedGen; C1835922.
DR   MeSH; D000592.
//
ID   AMME complex.
AC   DI-01183
AR   ATS-MR.
DE   An X-linked contiguous gene deletion syndrome characterized by
DE   glomerulonephritis, sensorineural hearing loss, intellectual
DE   disability, midface hypoplasia and elliptocytosis.
SY   Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis.
DR   MIM; 300194; phenotype.
DR   MedGen; C1846242.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
KW   KW-0250:Elliptocytosis.
KW   KW-0991:Intellectual disability.
//
ID   Amyloidosis 5.
AC   DI-00101
AR   AMYL5.
DE   A hereditary generalized amyloidosis due to gelsolin amyloid
DE   deposition. It is typically characterized by cranial neuropathy and
DE   lattice corneal dystrophy. Most patients have modest involvement of
DE   internal organs, but severe systemic disease can develop in some
DE   individuals causing peripheral polyneuropathy, amyloid cardiomyopathy,
DE   and nephrotic syndrome leading to renal failure.
SY   AGel.
SY   Amyloid cranial neuropathy with lattice corneal dystrophy.
SY   Amyloidosis due to mutant gelsolin.
SY   Amyloidosis V.
SY   Familial amyloidosis Finnish type.
SY   Familial amyloid polyneuropathy type IV.
SY   Finnish type amyloidosis.
SY   Gelsolin amyloidosis.
SY   Lattice corneal dystrophy type II.
SY   Meretoja type amyloidosis.
DR   MIM; 105120; phenotype.
DR   MedGen; C1622345.
DR   MedGen; C1628319.
DR   MedGen; C2751493.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Amyloidosis 6.
AC   DI-00102
AR   AMYL6.
DE   A hereditary generalized amyloidosis due to cystatin C amyloid
DE   deposition. Cystatin C amyloid accumulates in the walls of arteries,
DE   arterioles, and sometimes capillaries and veins of the brain, and in
DE   various organs including lymphoid tissue, spleen, salivary glands, and
DE   seminal vesicles. Amyloid deposition in the cerebral vessels results
DE   in cerebral amyloid angiopathy, cerebral hemorrhage and premature
DE   stroke. Cystatin C levels in the cerebrospinal fluid are abnormally
DE   low.
SY   ACys.
SY   CAA.
SY   Cerebral amyloid angiopathy.
SY   Cerebral amyloid angiopathy CST3-related.
SY   Cerebroarterial amyloidosis Icelandic type.
SY   Cystatin C amyloidosis.
SY   HCCAA.
SY   HCHWA.
SY   HCHWAI.
SY   HCHWA-I.
SY   Hereditary cerebral hemorrhage with amyloidosis.
SY   Hereditary cerebral hemorrhage with amyloidosis Icelandic type.
SY   Hereditary cystatin C amyloid angiopathy.
DR   MIM; 105150; phenotype.
DR   MedGen; C0085220.
DR   MedGen; C1510489.
DR   MedGen; C1527338.
DR   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis 8.
AC   DI-00104
AR   AMYL8.
DE   A form of hereditary generalized amyloidosis. Clinical features
DE   include extensive visceral amyloid deposits, renal amyloidosis
DE   resulting in nephrotic syndrome, arterial hypertension,
DE   hepatosplenomegaly, cholestasis, petechial skin rash. There is no
DE   involvement of the nervous system.
SY   Amyloidosis VIII.
SY   Familial amyloid nephropathy.
SY   Familial renal amyloidosis.
SY   Familial visceral amyloidosis.
SY   German type amyloidosis.
SY   Ostertag type amyloidosis.
SY   Systemic non-neuropathic amyloidosis.
DR   MIM; 105200; phenotype.
DR   MedGen; C0268389.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis, primary localized cutaneous, 1.
AC   DI-00105
AR   PLCA1.
DE   A primary amyloidosis characterized by localized cutaneous amyloid
DE   deposition. This condition usually presents with itching (especially
DE   on the lower legs) and visible changes of skin hyperpigmentation and
DE   thickening that may be exacerbated by chronic scratching and rubbing.
DE   Primary localized cutaneous amyloidosis is often divided into macular
DE   and lichen subtypes although many affected individuals often show both
DE   variants coexisting. Lichen amyloidosis characteristically presents as
DE   a pruritic eruption of grouped hyperkeratotic papules with a
DE   predilection for the shins, calves, ankles and dorsa of feet and
DE   thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE   resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE   amyloidosis is characterized by small pigmented macules that may merge
DE   to produce macular hyperpigmentation, sometimes with a reticulate or
DE   rippled pattern. In macular and lichen amyloidosis, amyloid is
DE   deposited in the papillary dermis in association with grouped colloid
DE   bodies, thought to represent degenerate basal keratinocytes. The
DE   amyloid deposits probably reflect a combination of degenerate keratin
DE   filaments, serum amyloid P component, and deposition of
DE   immunoglobulins.
SY   Amyloidosis IX.
SY   Amyloidosis type 9.
SY   Familial lichen amyloidosis.
SY   PCA.
SY   PLCA.
SY   Primary cutaneous amyloidosis.
SY   Primary localized cutaneous amyloidosis.
DR   MIM; 105250; phenotype.
DR   MedGen; C0268397.
DR   MedGen; C0268398.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis, primary localized cutaneous, 2.
AC   DI-03102
AR   PLCA2.
DE   A primary amyloidosis characterized by localized cutaneous amyloid
DE   deposition. This condition usually presents with itching (especially
DE   on the lower legs) and visible changes of skin hyperpigmentation and
DE   thickening that may be exacerbated by chronic scratching and rubbing.
DE   Primary localized cutaneous amyloidosis is often divided into macular
DE   and lichen subtypes although many affected individuals often show both
DE   variants coexisting. Lichen amyloidosis characteristically presents as
DE   a pruritic eruption of grouped hyperkeratotic papules with a
DE   predilection for the shins, calves, ankles and dorsa of feet and
DE   thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE   resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE   amyloidosis is characterized by small pigmented macules that may merge
DE   to produce macular hyperpigmentation, sometimes with a reticulate or
DE   rippled pattern. In macular and lichen amyloidosis, amyloid is
DE   deposited in the papillary dermis in association with grouped colloid
DE   bodies, thought to represent degenerate basal keratinocytes. The
DE   amyloid deposits probably reflect a combination of degenerate keratin
DE   filaments, serum amyloid P component, and deposition of
DE   immunoglobulins.
DR   MIM; 613955; phenotype.
DR   MedGen; C3151404.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis, primary localized cutaneous, 3.
AC   DI-05216
AR   PLCA3.
DE   A primary amyloidosis characterized by localized cutaneous amyloid
DE   deposition. This condition usually presents with itching (especially
DE   on the lower legs) and visible changes of skin hyperpigmentation and
DE   thickening that may be exacerbated by chronic scratching and rubbing.
DE   Primary localized cutaneous amyloidosis is often divided into macular
DE   and lichen subtypes although many affected individuals often show both
DE   variants coexisting. Lichen amyloidosis characteristically presents as
DE   a pruritic eruption of grouped hyperkeratotic papules with a
DE   predilection for the shins, calves, ankles and dorsa of feet and
DE   thighs. Papules may coalesce to form hyperkeratotic plaques that can
DE   resemble lichen planus, lichen simplex or nodular prurigo. Macular
DE   amyloidosis is characterized by small pigmented macules that may merge
DE   to produce macular hyperpigmentation, sometimes with a reticulate or
DE   rippled pattern. In macular and lichen amyloidosis, amyloid is
DE   deposited in the papillary dermis in association with grouped colloid
DE   bodies, thought to represent degenerate basal keratinocytes. The
DE   amyloid deposits probably reflect a combination of degenerate keratin
DE   filaments, serum amyloid P component, and deposition of
DE   immunoglobulins. PLCA3 inheritance is autosomal recessive.
SY   ACD.
SY   Amyloidosis cutis dyschromica.
DR   MIM; 617920; phenotype.
DR   MedGen; CN895592.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis, transthyretin-related.
AC   DI-00100
AR   AMYL-TTR.
DE   A hereditary generalized amyloidosis due to transthyretin amyloid
DE   deposition. Protein fibrils can form in different tissues leading to
DE   amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel
DE   syndrome, systemic senile amyloidosis. The disease includes
DE   leptomeningeal amyloidosis that is characterized by primary
DE   involvement of the central nervous system. Neuropathologic examination
DE   shows amyloid in the walls of leptomeningeal vessels, in pia
DE   arachnoid, and subpial deposits. Some patients also develop vitreous
DE   amyloid deposition that leads to visual impairment
DE   (oculoleptomeningeal amyloidosis). Clinical features include seizures,
DE   stroke-like episodes, dementia, psychomotor deterioration, variable
DE   amyloid deposition in the vitreous humor.
SY   Amyloidosis I.
SY   Amyloidosis Ohio type.
SY   Amyloidosis type 7.
SY   Amyloidosis VII.
SY   Amyloid polyneuropathy.
SY   ATTR.
SY   Familial amyloid polyneuropathy.
SY   Familial amyloid polyneuropathy type I.
SY   Familial amyloid polyneuropathy type II.
SY   FAP.
SY   Hereditary amyloidosis transthyretin-related.
SY   Leptomeningeal amyloidosis.
SY   Meningocerebrovascular amyloidosis.
SY   Oculoleptomeningeal amyloidosis.
SY   Transthyretin amyloid neuropathy.
SY   Transthyretin amyloidosis.
SY   Transthyretin amyloid polyneuropathy.
SY   TTR amyloid neuropathy.
DR   MIM; 105210; phenotype.
DR   MedGen; C0342609.
DR   MedGen; C2751492.
DR   MedGen; C3151470.
DR   MedGen; C3151471.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
//
ID   Amyotrophic lateral sclerosis.
AC   DI-00107
AR   ALS.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
SY   Charcot disease.
SY   Lou Gehrig disease.
SY   MND.
SY   Motor neuron disease.
DR   MIM; 105400; phenotype.
DR   MedGen; C1862940.
DR   MedGen; C1862941.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 1.
AC   DI-00108
AR   ALS1.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
SY   FALS.
SY   Familial amyotrophic lateral sclerosis.
SY   Lou Gehrig disease.
DR   MIM; 105400; phenotype.
DR   MedGen; C1862939.
DR   MedGen; C3542025.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 10.
AC   DI-00114
AR   ALS10.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
SY   Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions.
DR   MIM; 612069; phenotype.
DR   MedGen; C2677565.
DR   MedGen; C3150169.
DR   MedGen; C3150170.
DR   MedGen; C3150171.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 11.
AC   DI-00115
AR   ALS11.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 612577; phenotype.
DR   MedGen; C2675491.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.
AC   DI-02705
AR   ALS12.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS12 inheritance can be autosomal
DE   dominant or autosomal recessive. There is also sporadic occurrence.
DE   ALS12 patients may develop frontotemporal dementia.
DR   MIM; 613435; phenotype.
DR   MedGen; C3150692.
DR   MeSH; D000690.
DR   MeSH; D057180.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 13.
AC   DI-02859
AR   ALS13.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 183090; phenotype.
DR   MedGen; C3149907.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.
AC   DI-03271
AR   ALS15.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases. Patients with ALS15 may develop frontotemporal dementia.
DR   MIM; 300857; phenotype.
DR   MedGen; C3275459.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 16, juvenile.
AC   DI-03324
AR   ALS16.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 614373; phenotype.
DR   MedGen; C3280587.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 18.
AC   DI-03520
AR   ALS18.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 614808; phenotype.
DR   MedGen; C3553719.
DR   MedGen; CN143708.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 19.
AC   DI-03940
AR   ALS19.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 615515; phenotype.
DR   MedGen; C3715155.
DR   MedGen; CN181216.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 2.
AC   DI-00109
AR   ALS2.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
SY   ALSJ.
SY   Amyotrophic lateral sclerosis juvenile.
SY   Amyotrophic lateral sclerosis juvenile 2.
DR   MIM; 205100; phenotype.
DR   MedGen; C1859807.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 20.
AC   DI-03881
AR   ALS20.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 615426; phenotype.
DR   MedGen; C3715156.
DR   MedGen; CN180156.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 21.
AC   DI-02625
AR   ALS21.
DE   A neurodegenerative disorder affecting upper and lower motor neurons,
DE   resulting in muscle weakness and respiratory failure. Some patients
DE   may develop myopathic features or dementia.
SY   Distal myopathy 2.
SY   Distal myopathy with vocal cord weakness.
SY   MPD2.
SY   MSP5.
SY   Multisystem proteinopathy 5.
SY   VCPDM.
SY   Vocal cord and pharyngeal dysfunction with distal myopathy.
DR   MIM; 606070; phenotype.
DR   MedGen; C1853723.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.
AC   DI-04318
AR   ALS22.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases. Patients with ALS22 may develop frontotemporal dementia.
DR   MIM; 616208; phenotype.
DR   MedGen; CN225414.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 23.
AC   DI-05172
AR   ALS23.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS23 is an autosomal dominant form
DE   with incomplete penetrance.
DR   MIM; 617839; phenotype.
DR   MedGen; CN778765.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 24.
AC   DI-05206
AR   ALS24.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases.
DR   MIM; 617892; phenotype.
DR   MedGen; CN842244.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 25.
AC   DI-05205
AR   ALS25.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS25 is an autosomal dominant form
DE   with variable adult onset and incomplete penetrance.
DR   MIM; 617921; phenotype.
DR   MedGen; CN895594.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia.
AC   DI-06002
AR   ALS26.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS26 inheritance is autosomal
DE   dominant. Some patients may develop frontotemporal dementia.
DR   MIM; 619133; phenotype.
DR   MedGen; CN293620.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 27, juvenile.
AC   DI-06629
AR   ALS27.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS27 is an autosomal dominant form
DE   manifesting as toe walking and gait abnormalities in early childhood.
DR   MIM; 620285; phenotype.
DR   MedGen; CN323710.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 28.
AC   DI-06733
AR   ALS28.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS28 is an autosomal dominant form
DE   characterized by adult onset of slowly progressive limb muscle
DE   weakness and atrophy resulting in gait difficulties, loss of
DE   ambulation, and distal upper limb weakness. Facial involvement is
DE   rare, but some patients may have respiratory insufficiency.
DR   MIM; 620452; phenotype.
DR   MedGen; CN372468.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 4.
AC   DI-00110
AR   ALS4.
DE   A form of amyotrophic lateral sclerosis with childhood- or adolescent-
DE   onset, and characterized by slow disease progression and the sparing
DE   of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a
DE   neurodegenerative disorder affecting upper motor neurons in the brain
DE   and lower motor neurons in the brain stem and spinal cord, resulting
DE   in fatal paralysis. Sensory abnormalities are absent. The pathologic
DE   hallmarks of the disease include pallor of the corticospinal tract due
DE   to loss of motor neurons, presence of ubiquitin-positive inclusions
DE   within surviving motor neurons, and deposition of pathologic
DE   aggregates. The etiology of amyotrophic lateral sclerosis is likely to
DE   be multifactorial, involving both genetic and environmental factors.
DE   The disease is inherited in 5-10% of the cases.
SY   Amyotrophic lateral sclerosis juvenile 4.
SY   Neuronopathy distal hereditary motor with pyramidal features.
DR   MIM; 602433; phenotype.
DR   MedGen; C1865409.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 5, juvenile.
AC   DI-04565
AR   ALS5.
DE   A form of amyotrophic lateral sclerosis, a neurodegenerative disorder
DE   affecting upper motor neurons in the brain and lower motor neurons in
DE   the brain stem and spinal cord, resulting in fatal paralysis. Sensory
DE   abnormalities are absent. The pathologic hallmarks of the disease
DE   include pallor of the corticospinal tract due to loss of motor
DE   neurons, presence of ubiquitin-positive inclusions within surviving
DE   motor neurons, and deposition of pathologic aggregates. The etiology
DE   of amyotrophic lateral sclerosis is likely to be multifactorial,
DE   involving both genetic and environmental factors. The disease is
DE   inherited in 5-10% of the cases. ALS5 is an autosomal recessive,
DE   juvenile form characterized by onset of upper and lower motor neuron
DE   signs before age 25.
DR   MIM; 602099; phenotype.
DR   MedGen; C1865864.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.
AC   DI-00111
AR   ALS6.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 608030; phenotype.
DR   MedGen; C1842675.
DR   MedGen; C2750729.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 8.
AC   DI-00112
AR   ALS8.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 608627; phenotype.
DR   MedGen; C1837728.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 9.
AC   DI-00113
AR   ALS9.
DE   A neurodegenerative disorder affecting upper motor neurons in the
DE   brain and lower motor neurons in the brain stem and spinal cord,
DE   resulting in fatal paralysis. Sensory abnormalities are absent. The
DE   pathologic hallmarks of the disease include pallor of the
DE   corticospinal tract due to loss of motor neurons, presence of
DE   ubiquitin-positive inclusions within surviving motor neurons, and
DE   deposition of pathologic aggregates. The etiology of amyotrophic
DE   lateral sclerosis is likely to be multifactorial, involving both
DE   genetic and environmental factors. The disease is inherited in 5-10%
DE   of the cases.
DR   MIM; 611895; phenotype.
DR   MedGen; C2678468.
DR   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.
AC   DI-02695
AR   ALS-PDC1.
DE   A neurodegenerative disorder characterized by chronic, progressive and
DE   uniformly fatal amyotrophic lateral sclerosis and parkinsonism-
DE   dementia. Both diseases are known to occur in the same kindred, the
DE   same sibship and even the same individual.
SY   ALS/PDC of Guam.
SY   Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.
SY   Guam disease.
DR   MIM; 105500; phenotype.
DR   MedGen; C0543859.
DR   MeSH; D000690.
DR   MeSH; D020734.
KW   KW-0036:Amyotrophic lateral sclerosis.
KW   KW-0908:Parkinsonism.
//
ID   Analbuminemia.
AC   DI-04235
AR   ANALBA.
DE   A rare autosomal recessive disorder manifested by the presence of a
DE   very low amount of circulating serum albumin. Affected individuals
DE   manifest mild edema, hypotension, fatigue, and, occasionally, lower
DE   body lipodystrophy (mainly in adult females). The most common
DE   biochemical finding is hyperlipidemia, with a significant increase in
DE   the total and LDL cholesterol concentrations, but normal
DE   concentrations of HDL cholesterol and triglycerides.
DR   MIM; 616000; phenotype.
DR   MedGen; C0878666.
DR   MeSH; D034141.
//
ID   Anauxetic dysplasia 2.
AC   DI-04972
AR   ANXD2.
DE   An autosomal recessive spondyloepimetaphyseal dysplasia characterized
DE   by severe short stature of prenatal onset, very short adult height
DE   (less than 1 meter), hypodontia, midface hypoplasia, and mild
DE   intellectual disability.
DR   MIM; 617396; phenotype.
DR   MedGen; CN241834.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Anauxetic dysplasia 3.
AC   DI-05799
AR   ANXD3.
DE   An autosomal recessive skeletal dysplasia characterized by severe
DE   short stature, brachydactyly, skin laxity, joint hypermobility and
DE   dislocations, short metacarpals, broad middle phalanges, and
DE   metaphyseal irregularities. Most patients also exhibit motor and
DE   cognitive delays.
DR   MIM; 618853; phenotype.
DR   MedGen; CN280852.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Androgen insensitivity syndrome.
AC   DI-00116
AR   AIS.
DE   An X-linked recessive form of pseudohermaphroditism due end-organ
DE   resistance to androgen. Affected males have female external genitalia,
DE   female breast development, blind vagina, absent uterus and female
DE   adnexa, and abdominal or inguinal testes, despite a normal 46,XY
DE   karyotype.
SY   Androgen receptor deficiency.
SY   Androgen resistance syndrome.
SY   AR deficiency.
SY   CAIS.
SY   Complete androgen insensitivity syndrome.
SY   DHTR deficiency.
SY   Dihydrotestosterone receptor deficiency.
SY   Testicular feminization syndrome.
SY   TFM.
DR   MIM; 300068; phenotype.
DR   MedGen; C0039585.
DR   MeSH; D013734.
KW   KW-0657:Pseudohermaphroditism.
//
ID   Androgen insensitivity, partial.
AC   DI-00117
AR   PAIS.
DE   A disorder that is characterized by hypospadias, hypogonadism,
DE   gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree
DE   pattern consistent with X-linked recessive inheritance. Some patients
DE   present azoospermia or severe oligospermia without other clinical
DE   manifestations.
SY   Androgen insensitivity partial with or without breast cancer.
SY   Familial incomplete male pseudohermaphroditism, type 1.
SY   Reifenstein syndrome.
DR   MIM; 312300; phenotype.
DR   MedGen; C0268301.
DR   MeSH; D013734.
KW   KW-0657:Pseudohermaphroditism.
//
ID   Anemia without thrombocytopenia, X-linked.
AC   DI-03055
AR   XLAWT.
DE   A form of anemia characterized by abnormal morphology of erythrocytes
DE   and granulocytes in peripheral blood, bone marrow dysplasia with
DE   hypocellularity of erythroid and granulocytic lineages, and normal or
DE   increased number of megakaryocytes. Neutropenia of a variable degree
DE   is present in affected individuals.
SY   Anemia X-linked with variable neutropenia.
DR   MIM; 300835; phenotype.
DR   MedGen; C3151785.
DR   MedGen; C3550856.
DR   MeSH; D000740.
//
ID   Anemia, congenital dyserythropoietic, 1A.
AC   DI-01400
AR   CDAN1A.
DE   An autosomal recessive blood disorder characterized by morphological
DE   abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic
DE   anemia and secondary hemochromatosis. It is occasionally associated
DE   with bone abnormalities, especially of the hands and feet
DE   (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural
DE   features include internuclear chromatin bridges connecting some nearly
DE   completely separated erythroblasts and an abnormal appearance (spongy
DE   or Swiss-cheese appearance) of the heterochromatin in a high
DE   proportion of the erythroblasts.
SY   CDA I.
SY   CDA Ia.
SY   Congenital dyserythropoietic anemia type I.
SY   Congenital dyserythropoietic anemia type Ia.
DR   MIM; 224120; phenotype.
DR   MedGen; C0271933.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, congenital dyserythropoietic, 1B.
AC   DI-04032
AR   CDAN1B.
DE   An autosomal recessive blood disorder characterized by morphological
DE   abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic
DE   anemia and secondary hemochromatosis. It is occasionally associated
DE   with bone abnormalities, especially of the hands and feet
DE   (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural
DE   features include internuclear chromatin bridges connecting some nearly
DE   completely separated erythroblasts and an abnormal appearance (spongy
DE   or Swiss-cheese appearance) of the heterochromatin in a high
DE   proportion of the erythroblasts.
SY   CDA Ib.
SY   Congenital dyserythropoietic anemia type Ib.
DR   MIM; 615631; phenotype.
DR   MedGen; C3810185.
DR   MedGen; CN184538.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, congenital dyserythropoietic, 2.
AC   DI-02476
AR   CDAN2.
DE   An autosomal recessive blood disorder characterized by morphological
DE   abnormalities of erythroblasts, ineffective erythropoiesis, normocytic
DE   anemia, iron overload, jaundice, and variable splenomegaly.
DE   Ultrastructural features include bi- or multinucleated erythroblasts
DE   in bone marrow, karyorrhexis, and the presence of Gaucher-like bone
DE   marrow histiocytes. The main biochemical feature of the disease is
DE   defective glycosylation of some red blood cells membrane proteins.
SY   CDA II.
SY   Congenital dyserythropoietic anemia type II.
SY   Dyserythropoietic anemia HEMPAS type.
SY   HEMPAS.
SY   Hereditary erythroblastic multinuclearity with positive acidified-serum test.
DR   MIM; 224100; phenotype.
DR   MedGen; C1306589.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, congenital dyserythropoietic, 3A.
AC   DI-06363
AR   CDAN3A.
DE   An autosomal dominant blood disorder characterized by ineffective
DE   erythropoiesis, hemolytic anemia, macrocytosis in the peripheral
DE   blood, intravascular hemolysis, and giant multinucleated erythroblasts
DE   in the bone marrow.
SY   Anemia, congenital dyserythropoietic, type III.
SY   Anemia, congenital dyserythropoietic, type IIIA.
SY   Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign.
SY   CDA, type IIIA.
SY   CDAN3.
SY   Dyserythropoietic anemia, congenital, type IIIA.
DR   MIM; 105600; phenotype.
DR   MedGen; C0271934.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, congenital dyserythropoietic, 3B, autosomal recessive.
AC   DI-06364
AR   CDAN3B.
DE   An autosomal recessive blood disorder characterized by marked
DE   dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral
DE   blood, and giant multinucleated erythroblasts in the bone marrow.
DR   MIM; 619789; phenotype.
DR   MedGen; CN307040.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, congenital dyserythropoietic, 4.
AC   DI-02966
AR   CDAN4.
DE   A blood disorder characterized by ineffective erythropoiesis and
DE   hemolysis resulting in anemia. Circulating erythroblasts and
DE   erythroblasts in the bone marrow show various morphologic
DE   abnormalities. Affected individuals with CDA4 also have increased
DE   levels of fetal hemoglobin.
SY   CDA IV.
SY   Congenital dyserythropoietic anemia type IV.
DR   MIM; 613673; phenotype.
DR   MedGen; C3150926.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Anemia, hypochromic microcytic, with iron overload 1.
AC   DI-01787
AR   AHMIO1.
DE   A hematologic disease characterized by abnormal hemoglobin content in
DE   the erythrocytes which are reduced in size. The disorder is due to an
DE   error of iron metabolism that results in high serum iron, massive
DE   hepatic iron deposition, and absence of sideroblasts and stainable
DE   bone marrow iron store. Despite adequate transferrin-iron complex,
DE   delivery of iron to the erythroid bone marrow is apparently
DE   insufficient for the demands of hemoglobin synthesis.
SY   Hypochromic microcytic anemia.
DR   MIM; 206100; phenotype.
DR   MedGen; C2673913.
DR   MeSH; D000747.
//
ID   Anemia, hypochromic microcytic, with iron overload 2.
AC   DI-03728
AR   AHMIO2.
DE   A hematologic disease characterized by abnormal hemoglobin content in
DE   the erythrocytes which are reduced in size, severe anemia,
DE   erythropoietic hyperplasia of bone marrow, massive hepatic iron
DE   deposition, and hepatosplenomegaly.
DR   MIM; 615234; phenotype.
DR   MedGen; C3808920.
DR   MedGen; CN169678.
DR   MeSH; D000747.
//
ID   Anemia, non-spherocytic hemolytic, due to G6PD deficiency.
AC   DI-01351
AR   NSHA.
DE   A disease characterized by G6PD deficiency, acute hemolytic anemia,
DE   fatigue, back pain, and jaundice. In most patients, the disease is
DE   triggered by an exogenous agent, such as some drugs, food, or
DE   infection. Increased unconjugated bilirubin, lactate dehydrogenase,
DE   and reticulocytosis are markers of the disorder. Although G6PD
DE   deficiency can be life-threatening, most patients are asymptomatic
DE   throughout their life.
DR   MIM; 300908; phenotype.
DR   MedGen; C2720289.
DR   MedGen; CN069445.
DR   MeSH; D000746.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Anemia, sideroblastic, 1.
AC   DI-00120
AR   SIDBA1.
DE   A form of sideroblastic anemia that shows a variable hematologic
DE   response to pharmacologic doses of pyridoxine. Sideroblastic anemia is
DE   characterized by anemia of varying severity, hypochromic peripheral
DE   erythrocytes, systemic iron overload secondary to chronic ineffective
DE   erythropoiesis, and the presence of bone marrow ringed sideroblasts.
DE   Sideroblasts are characterized by iron-loaded mitochondria clustered
DE   around the nucleus.
SY   Anemia, sideroblastic, X-linked.
SY   ANH1.
SY   Hereditary iron-loading anemia.
SY   Hereditary sideroblastic anemia.
SY   Hypochromic anemia.
SY   XLSA.
DR   MIM; 300751; phenotype.
DR   MedGen; C0221018.
DR   MeSH; D000747.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, 2, pyridoxine-refractory.
AC   DI-00119
AR   SIDBA2.
DE   A form of sideroblastic anemia not responsive to pyridoxine.
DE   Sideroblastic anemia is characterized by anemia of varying severity,
DE   hypochromic peripheral erythrocytes, systemic iron overload secondary
DE   to chronic ineffective erythropoiesis, and the presence of bone marrow
DE   ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE   mitochondria clustered around the nucleus.
SY   Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.
DR   MIM; 205950; phenotype.
DR   MedGen; C2673914.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, 3, pyridoxine-refractory.
AC   DI-04678
AR   SIDBA3.
DE   A form of sideroblastic anemia, a bone marrow disorder defined by the
DE   presence of pathologic iron deposits in erythroblast mitochondria.
DE   Sideroblastic anemia is characterized by anemia of varying severity,
DE   hypochromic peripheral erythrocytes, systemic iron overload secondary
DE   to chronic ineffective erythropoiesis, and the presence of bone marrow
DE   ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE   mitochondria clustered around the nucleus. SIDBA3 is refractory to
DE   treatment with vitamin B6, while iron chelation therapy may result in
DE   clinical improvement. SIDBA3 inheritance is autosomal recessive.
DR   MIM; 616860; phenotype.
DR   MedGen; CN235585.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, 4.
AC   DI-04677
AR   SIDBA4.
DE   A form of sideroblastic anemia, a bone marrow disorder defined by the
DE   presence of pathologic iron deposits in erythroblast mitochondria.
DE   Sideroblastic anemia is characterized by anemia of varying severity,
DE   hypochromic peripheral erythrocytes, systemic iron overload secondary
DE   to chronic ineffective erythropoiesis, and the presence of bone marrow
DE   ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE   mitochondria clustered around the nucleus. SIDBA4 has been reported to
DE   be inherited as an autosomal recessive disease, with a pseudodominant
DE   pattern of inheritance in some families.
DR   MIM; 182170; phenotype.
DR   MedGen; C2674249.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, 5.
AC   DI-06225
AR   SIDBA5.
DE   A form of sideroblastic anemia, a bone marrow disorder defined by the
DE   presence of pathologic iron deposits in erythroblast mitochondria.
DE   Sideroblastic anemia is characterized by anemia of varying severity,
DE   hypochromic peripheral erythrocytes, systemic iron overload secondary
DE   to chronic ineffective erythropoiesis, and the presence of bone marrow
DE   ringed sideroblasts. Sideroblasts are characterized by iron-loaded
DE   mitochondria clustered around the nucleus. SIDBA5 inheritance is
DE   autosomal recessive.
DR   MIM; 619523; phenotype.
DR   MedGen; CN300476.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, spinocerebellar ataxia.
AC   DI-02459
AR   ASAT.
DE   An X-linked recessive disorder characterized by an infantile to early
DE   childhood onset of non-progressive cerebellar ataxia and mild anemia,
DE   with hypochromia and microcytosis.
SY   Pagon Bird Detter syndrome.
DR   MIM; 301310; phenotype.
DR   MedGen; C1845028.
DR   MeSH; D000756.
DR   MeSH; D020754.
//
ID   Anencephaly 1.
AC   DI-05078
AR   ANPH1.
DE   An extreme form of neural tube defect resulting in the absence of
DE   brain tissues, and death in utero or perinatally. Infants are born
DE   with intact spinal cords, cerebellums, and brainstems, but lack
DE   formation of neural structures above this level. The skull is only
DE   partially formed. ANPH1 inheritance is autosomal recessive.
SY   Anencephalus.
SY   ANPH.
DR   MIM; 206500; phenotype.
DR   MedGen; C0002902.
DR   MeSH; D000757.
//
ID   Anencephaly 2.
AC   DI-06156
AR   ANPH2.
DE   A form of anencephaly, an extreme neural tube defect resulting in the
DE   absence of brain tissues, and death in utero or perinatally. Infants
DE   are born with intact spinal cords, cerebellums, and brainstems, but
DE   lack formation of neural structures above this level. The skull is
DE   only partially formed. ANPH2 features may also include frontonasal
DE   dysplasia with midline cleft of the upper lip and alveolar ridge,
DE   bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal
DE   recessive.
DR   MIM; 619452; phenotype.
DR   MedGen; CN300068.
DR   MeSH; D000757.
//
ID   Aneurysm, intracranial berry, 12.
AC   DI-05735
AR   ANIB12.
DE   A form of cerebral aneurysm, a focal abnormal dilatation of a blood
DE   vessel in the brain. Berry intracranial aneurysms, also known as
DE   saccular aneurysms, have a characteristic rounded shape and account
DE   for the vast majority of intracranial aneurysms. They are the most
DE   common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset
DE   disease that can lead to severe disability and death. Several risk
DE   factors such as smoking, hypertension, and excessive alcohol intake
DE   are associated with subarachnoid hemorrhage.
DR   MIM; 618734; phenotype.
DR   MedGen; CN263139.
DR   MeSH; D002532.
//
ID   Angelman syndrome.
AC   DI-00121
AR   AS.
DE   A neurodevelopmental disorder characterized by severe motor and
DE   intellectual retardation, ataxia, frequent jerky limb movements and
DE   flapping of the arms and hands, hypotonia, seizures, absence of
DE   speech, frequent smiling and episodes of paroxysmal laughter, open-
DE   mouthed expression revealing the tongue.
SY   Happy puppet syndrome.
DR   MIM; 105830; phenotype.
DR   MedGen; C0162635.
DR   MeSH; D017204.
//
ID   Angioedema induced by ACE inhibitors.
AC   DI-03955
AR   AEACEI.
DE   A potentially life-threatening side effect of ACE inhibitors that
DE   appears in a subset of patients taking these drugs for hypertension
DE   and cardiovascular disease treatment. AEACEI is characterized by
DE   swelling of the face, lips, tongue, and airway that can lead to
DE   suffocation and death if severe.
SY   AE-ACEI.
DR   MIM; 300909; phenotype.
DR   MedGen; CN069588.
DR   MeSH; D000799.
DR   MeSH; D064420.
//
ID   Angioedema, hereditary, 1.
AC   DI-00543
AR   HAE1.
DE   An autosomal dominant disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. Hereditary angioedema due to C1 esterase inhibitor
DE   deficiency is comprised of two clinically indistinguishable forms. In
DE   hereditary angioedema type 1, serum levels of C1 esterase inhibitor
DE   are decreased, while in type 2, the levels are normal or elevated, but
DE   the protein is non-functional.
SY   C1 esterase inhibitor deficiency.
SY   HANE.
SY   Hereditary angioneurotic edema.
DR   MIM; 106100; phenotype.
DR   MedGen; C0019243.
DR   MedGen; C1862892.
DR   MedGen; C2717906.
DR   MeSH; D054179.
//
ID   Angioedema, hereditary, 3.
AC   DI-00544
AR   HAE3.
DE   A hereditary angioedema occurring only in women. Hereditary angioedema
DE   is an autosomal dominant disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in
DE   that both concentration and function of C1 esterase inhibitor are
DE   normal. Hereditary angioedema type 3 is precipitated or worsened by
DE   high estrogen levels (e.g., during pregnancy or treatment with oral
DE   contraceptives).
SY   Angioedema, hereditary, type III.
SY   Angioneurotic edema hereditary with normal C1 inhibitor concentration and function.
SY   Estrogen-related HAE.
SY   Estrogen-sensitive HAE.
SY   HAE with normal C1 inhibitor concentration and function.
SY   Hereditary angioedema with normal C1 inhibitor activity.
DR   MIM; 610618; phenotype.
DR   MedGen; C1857728.
DR   MeSH; D056828.
//
ID   Angioedema, hereditary, 4.
AC   DI-06124
AR   HAE4.
DE   A form of angioedema, a disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. HAE4 is an autosomal dominant form with incomplete
DE   penetrance, variable expressivity, and female predominance.
DR   MIM; 619360; phenotype.
DR   MedGen; CN297073.
DR   MeSH; D054179.
//
ID   Angioedema, hereditary, 5.
AC   DI-06125
AR   HAE5.
DE   A form of angioedema, a disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. HAE5 is an autosomal dominant form characterized by onset
DE   of episodic swelling of the face, lips, hands, and abdomen in the
DE   second decade of life.
DR   MIM; 619361; phenotype.
DR   MedGen; CN297074.
DR   MeSH; D054179.
//
ID   Angioedema, hereditary, 6.
AC   DI-06126
AR   HAE6.
DE   A form of angioedema, a disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. HAE6 is an autosomal dominant form with onset in adulthood.
DR   MIM; 619363; phenotype.
DR   MedGen; CN297075.
DR   MeSH; D054179.
//
ID   Angioedema, hereditary, 7.
AC   DI-06127
AR   HAE7.
DE   A form of angioedema, a disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. HAE7 is an autosomal dominant form characterized by onset
DE   of recurrent swelling of the face, lips, and oral mucosa in the second
DE   decade.
DR   MIM; 619366; phenotype.
DR   MedGen; CN297076.
DR   MeSH; D054179.
//
ID   Angioedema, hereditary, 8.
AC   DI-06128
AR   HAE8.
DE   A form of angioedema, a disorder characterized by episodic local
DE   swelling involving subcutaneous or submucous tissue of the upper
DE   respiratory and gastrointestinal tracts, face, extremities, and
DE   genitalia. HAE8 inheritance is autosomal dominant.
DR   MIM; 619367; phenotype.
DR   MedGen; CN297077.
DR   MeSH; D054179.
//
ID   Angiomatoid fibrous histiocytoma.
AC   DI-02611
AR   AFH.
DE   A distinct variant of malignant fibrous histiocytoma that typically
DE   occurs in children and adolescents and is manifest by nodular
DE   subcutaneous growth. Characteristic microscopic features include
DE   lobulated sheets of histiocyte-like cells intimately associated with
DE   areas of hemorrhage and cystic pseudovascular spaces, as well as a
DE   striking cuffing of inflammatory cells, mimicking a lymph node
DE   metastasis.
DR   MIM; 612160; phenotype.
DR   MedGen; C1266127.
DR   MeSH; D051677.
//
ID   Anhaptoglobinemia.
AC   DI-03152
AR   AHP.
DE   A condition characterized by the absence of the serum glycoprotein
DE   haptoglobin. Serum levels of haptoglobin vary among normal persons:
DE   levels are low in the neonatal period and in the elderly, differ by
DE   population, and can be influenced by environmental factors, such as
DE   infection. Secondary hypohaptoglobinemia can occur as a consequence of
DE   hemolysis, during which haptoglobin binds to free hemoglobin.
DE   Congenital haptoglobin deficiency is a risk factor for anaphylactic
DE   non-hemolytic transfusion reactions.
SY   Ahaptoglobinemia.
SY   Hypohaptoglobinemia.
DR   MIM; 614081; phenotype.
DR   MedGen; C3279786.
DR   MedGen; C3279787.
DR   MeSH; D001796.
//
ID   Anhidrosis, isolated, with normal sweat glands.
AC   DI-04405
AR   ANHD.
DE   An autosomal recessive disorder characterized by generalized, isolated
DE   anhidrosis, severe heat intolerance, and morphologically normal
DE   eccrine sweat glands. Body growth, teeth, hair, nails, and skin are
DE   normal.
SY   Anhidrosis, familial generalized, with normal sweat glands.
SY   Dann-Epstein-Sohar syndrome.
DR   MIM; 106190; phenotype.
DR   MedGen; C1862871.
DR   MeSH; D007007.
//
ID   Aniridia 1.
AC   DI-01184
AR   AN1.
DE   A congenital, bilateral, panocular disorder characterized by complete
DE   absence of the iris or extreme iris hypoplasia. Aniridia is not just
DE   an isolated defect in iris development but it is associated with
DE   macular and optic nerve hypoplasia, cataract, corneal changes,
DE   nystagmus. Visual acuity is generally low but is unrelated to the
DE   degree of iris hypoplasia. Glaucoma is a secondary problem causing
DE   additional visual loss over time.
SY   AN.
SY   AN2.
SY   Aniridia type II.
DR   MIM; 106210; phenotype.
DR   MedGen; C0003076.
DR   MeSH; D015783.
//
ID   Aniridia 2.
AC   DI-04858
AR   AN2.
DE   A form of aniridia, a congenital, bilateral, panocular disorder
DE   characterized by complete absence of the iris or extreme iris
DE   hypoplasia. Aniridia is not just an isolated defect in iris
DE   development but it is associated with macular and optic nerve
DE   hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is
DE   generally low but is unrelated to the degree of iris hypoplasia.
DE   Glaucoma is a secondary problem causing additional visual loss over
DE   time.
DR   MIM; 617141; phenotype.
DR   MedGen; C0344543.
DR   MeSH; D015783.
//
ID   Aniridia 3.
AC   DI-04859
AR   AN3.
DE   A form of aniridia, a congenital, bilateral, panocular disorder
DE   characterized by complete absence of the iris or extreme iris
DE   hypoplasia. Aniridia is not just an isolated defect in iris
DE   development but it is associated with macular and optic nerve
DE   hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is
DE   generally low but is unrelated to the degree of iris hypoplasia.
DE   Glaucoma is a secondary problem causing additional visual loss over
DE   time.
DR   MIM; 617142; phenotype.
DR   MedGen; CN238677.
DR   MeSH; D015783.
//
ID   Ankyloblepharon-ectodermal defects-cleft lip/palate.
AC   DI-00122
AR   AEC.
DE   An autosomal dominant condition characterized by congenital ectodermal
DE   dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight
DE   hypohidrosis, scalp infections, ankyloblepharon filiform adnatum,
DE   maxillary hypoplasia, hypodontia and cleft lip/palate.
SY   AEC syndrome.
SY   Ankyloblepharon-ectodermal defect-cleft lip/palate.
SY   Hay-Wells syndrome.
DR   MIM; 106260; phenotype.
DR   MedGen; C0406709.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Anorexia nervosa.
AC   DI-04568
AR   ANON.
DE   An eating disorder characterized by the lack or loss of appetite,
DE   excess fear of becoming overweight, body image disturbance,
DE   significant weight loss, refusal to maintain minimal normal weight,
DE   and amenorrhea.
DR   MIM; 606788; phenotype.
DR   MedGen; C1853221.
DR   MeSH; D000856.
//
ID   Anterior segment anomalies with or without cataract.
AC   DI-03442
AR   ASA.
DE   A disease characterized by various types of developmental eye
DE   anomalies, in the absence of other abnormalities. The phenotypic
DE   spectrum of anterior segment anomalies include central corneal
DE   opacity, Peters anomaly, and bilateral persistence of the pupillary
DE   membrane. Some patients have cataract.
DR   MIM; 602588; phenotype.
DR   MedGen; C3551443.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 1.
AC   DI-00123
AR   ASGD1.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis.
SY   Anterior segment mesenchymal dysgenesis.
SY   Anterior segment ocular dysgenesis.
SY   ASMD.
SY   ASOD.
SY   Familial ocular anterior segment mesenchymal dysgenesis.
DR   MIM; 107250; phenotype.
DR   MedGen; C1862839.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 2.
AC   DI-01416
AR   ASGD2.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. Some ASGD2 patients show congenital primary
DE   aphakia, a defect caused by eye development arrest around the 4th-5th
DE   week of gestation. This prevents the formation of any lens structure
DE   and leads to severe secondary ocular anomalies, including a complete
DE   aplasia of the anterior segment of the eye. In contrast, in secondary
DE   aphakic eyes, lens induction has occurred, and the lens vesicle has
DE   developed to some degree but finally has progressively resorbed
DE   perinatally, leading, therefore, to less severe ocular defects. ASGD2
DE   inheritance is autosomal recessive.
SY   Aphakia, congenital primary.
SY   Congenital primary aphakia.
SY   CPA.
SY   CPAK.
DR   MIM; 610256; phenotype.
DR   MedGen; C1853230.
DR   MeSH; D001035.
//
ID   Anterior segment dysgenesis 3.
AC   DI-01832
AR   ASGD3.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant.
SY   Glaucoma iridogoniodysplasia, familial.
SY   IGDA.
SY   Irid1.
SY   Iridogoniodysgenesis, type 1.
SY   Iridogoniodysgenesis anomaly.
SY   Iridogoniodysgenesis anomaly, autosomal dominant.
SY   Iris hypoplasia with glaucoma.
DR   MIM; 601631; phenotype.
DR   MedGen; C1839928.
DR   MedGen; C1866560.
DR   MedGen; C1866561.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 4.
AC   DI-01833
AR   ASGD4.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.
SY   IGDS2.
SY   IHGA.
SY   IRID2.
SY   Iridogoniodysgenesis syndrome 2.
SY   Iridogoniodysgenesis type 2.
SY   Iris hypoplasia with early-onset glaucoma, autosomal dominant.
DR   MIM; 137600; phenotype.
DR   MedGen; C1842031.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 5.
AC   DI-02157
AR   ASGD5.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis.
DR   MIM; 604229; phenotype.
DR   MedGen; C0344559.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 6.
AC   DI-04923
AR   ASGD6.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters
DE   anomaly. Peters anomaly consists of corneal leukoma, defects in the
DE   posterior structures of the cornea such as absence of the posterior
DE   corneal stroma and Descemet membrane, and a variable degree of
DE   iridocorneal and/or keratolenticular adhesions. Over 50% of patients
DE   develop glaucoma in childhood.
DR   MIM; 617315; phenotype.
DR   MedGen; CN240370.
DR   MeSH; D005124.
//
ID   Anterior segment dysgenesis 7.
AC   DI-04168
AR   ASGD7.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. ASGD7 is an autosomal recessive disease.
SY   COPOA.
SY   Corneal opacification with other ocular anomalies.
SY   Sclerocornea with other ocular anomalies.
DR   MIM; 269400; phenotype.
DR   MedGen; C1853235.
DR   MeSH; D003316.
//
ID   Anterior segment dysgenesis 8.
AC   DI-04922
AR   ASGD8.
DE   A form of anterior segment dysgenesis, a group of defects affecting
DE   anterior structures of the eye including cornea, iris, lens,
DE   trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses
DE   result from abnormal migration or differentiation of the neural crest
DE   derived mesenchymal cells that give rise to components of the anterior
DE   chamber during eye development. Different anterior segment anomalies
DE   may exist alone or in combination, including iris hypoplasia, enlarged
DE   or reduced corneal diameter, corneal vascularization and opacity,
DE   posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal
DE   angle, ectopia lentis, and anterior synechiae between the iris and
DE   posterior corneal surface. Clinical conditions falling within the
DE   phenotypic spectrum of anterior segment dysgeneses include aniridia,
DE   Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and
DE   iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and
DE   lens abnormalities, in the absence of retinal abnormalities or extra-
DE   ocular features. ASGD8 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 617319; phenotype.
DR   MedGen; CN240371.
DR   MeSH; D005124.
//
ID   Antithrombin III deficiency.
AC   DI-00124
AR   AT3D.
DE   An important risk factor for hereditary thrombophilia, a hemostatic
DE   disorder characterized by a tendency to recurrent thrombosis.
DE   Antithrombin-III deficiency is classified into 4 types. Type I:
DE   characterized by a 50% decrease in antigenic and functional levels.
DE   Type II: has defects affecting the thrombin-binding domain. Type III:
DE   alteration of the heparin-binding domain. Plasma AT-III antigen levels
DE   are normal in type II and III. Type IV: consists of miscellaneous
DE   group of unclassifiable mutations.
SY   Antithrombin 3 deficiency.
SY   Antithrombin deficiency.
SY   Antithrombin-III deficiency.
SY   AT-III deficiency.
SY   THPH7.
SY   Thrombophilia due to antithrombin-III deficiency.
DR   MIM; 613118; phenotype.
DR   MedGen; C0272375.
DR   MeSH; D020152.
KW   KW-0792:Thrombophilia.
//
ID   Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis.
AC   DI-00046
AR   ABS1.
DE   A disease characterized by the association of Antley-Bixler syndrome
DE   with steroidogenesis defects and abnormal genitalia. Antley-Bixler
DE   syndrome is characterized by craniosynostosis, radiohumeral synostosis
DE   present from the perinatal period, midface hypoplasia, choanal
DE   stenosis or atresia, femoral bowing and multiple joint contractures.
SY   Antley-Bixler syndrome-like phenotype with disordered steroidogenesis.
SY   Cytochrome P450 oxidoreductase deficiency.
SY   POR deficiency.
DR   MIM; 201750; phenotype.
DR   MedGen; C1860042.
DR   MedGen; C3150099.
DR   MeSH; D054882.
KW   KW-0989:Craniosynostosis.
//
ID   Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis.
AC   DI-00125
AR   ABS2.
DE   A rare syndrome characterized by craniosynostosis, radiohumeral
DE   synostosis present from the perinatal period, midface hypoplasia,
DE   choanal stenosis or atresia, femoral bowing and multiple joint
DE   contractures. Arachnodactyly and/or camptodactyly have also been
DE   reported.
SY   Multisynostotic osteodysgenesis with long bone fractures.
SY   Osteodysgenesis multisynostotic with fractures.
SY   Trapezoidocephaly-synostosis syndrome.
DR   MIM; 207410; phenotype.
DR   MedGen; C2936791.
DR   MeSH; D054882.
KW   KW-0989:Craniosynostosis.
//
ID   Aortic aneurysm, familial abdominal.
AC   DI-00126
AR   AAA.
DE   A common multifactorial disorder characterized by permanent dilation
DE   of the abdominal aorta, usually due to degenerative changes in the
DE   aortic wall. Histologically, AAA is characterized by signs of chronic
DE   inflammation, destructive remodeling of the extracellular matrix, and
DE   depletion of vascular smooth muscle cells.
DR   MIM; 100070; phenotype.
DR   MedGen; C0162871.
DR   MedGen; C1853365.
DR   MeSH; D017544.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 10.
AC   DI-04842
AR   AAT10.
DE   A form of thoracic aortic aneurysm, a disease characterized by
DE   permanent dilation of the thoracic aorta usually due to degenerative
DE   changes in the aortic wall. It is primarily associated with a
DE   characteristic histologic appearance known as 'medial necrosis' or
DE   'Erdheim cystic medial necrosis' in which there is degeneration and
DE   fragmentation of elastic fibers, loss of smooth muscle cells, and an
DE   accumulation of basophilic ground substance.
SY   Aortic aneurysm, thoracic, with or without aortic dissection.
DR   MIM; 617168; phenotype.
DR   MedGen; CN238824.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 11.
AC   DI-04950
AR   AAT11.
DE   A form of thoracic aortic aneurysm, a disease characterized by
DE   permanent dilation of the thoracic aorta usually due to degenerative
DE   changes in the aortic wall. It is primarily associated with a
DE   characteristic histologic appearance known as 'medial necrosis' or
DE   'Erdheim cystic medial necrosis' in which there is degeneration and
DE   fragmentation of elastic fibers, loss of smooth muscle cells, and an
DE   accumulation of basophilic ground substance.
DR   MIM; 617349; phenotype.
DR   MedGen; CN240581.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 12.
AC   DI-06389
AR   AAT12.
DE   A form of thoracic aortic aneurysm, a disease characterized by
DE   permanent dilation of the thoracic aorta usually due to degenerative
DE   changes in the aortic wall. It is primarily associated with a
DE   characteristic histologic appearance known as 'medial necrosis' or
DE   'Erdheim cystic medial necrosis' in which there is degeneration and
DE   fragmentation of elastic fibers, loss of smooth muscle cells, and an
DE   accumulation of basophilic ground substance. AAT12 is an autosomal
DE   dominant disease manifesting with aortic dissection and progressive
DE   dilation of the aortic root, ascending aorta, and abdominal aorta.
DR   MIM; 619825; phenotype.
DR   MedGen; CN307963.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 4.
AC   DI-00128
AR   AAT4.
DE   A disease characterized by permanent dilation of the thoracic aorta
DE   usually due to degenerative changes in the aortic wall. It is
DE   primarily associated with a characteristic histologic appearance known
DE   as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE   there is degeneration and fragmentation of elastic fibers, loss of
DE   smooth muscle cells, and an accumulation of basophilic ground
DE   substance.
SY   Aortic aneurysm/aortic dissection and patent ductus arteriosus.
SY   FAA4.
SY   Familial aortic aneurysm 4.
SY   Non-syndromic thoracic aortic aneurysms and dissection.
SY   TAAD.
SY   Thoracic aortic aneurysms and dissection.
DR   MIM; 132900; phenotype.
DR   MedGen; C1851504.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 6.
AC   DI-00130
AR   AAT6.
DE   A disease characterized by permanent dilation of the thoracic aorta
DE   usually due to degenerative changes in the aortic wall. It is
DE   primarily associated with a characteristic histologic appearance known
DE   as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE   there is degeneration and fragmentation of elastic fibers, loss of
DE   smooth muscle cells, and an accumulation of basophilic ground
DE   substance.
SY   Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi.
DR   MIM; 611788; phenotype.
DR   MedGen; C2673186.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 7.
AC   DI-03062
AR   AAT7.
DE   A disease characterized by permanent dilation of the thoracic aorta
DE   usually due to degenerative changes in the aortic wall. It is
DE   primarily associated with a characteristic histologic appearance known
DE   as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE   there is degeneration and fragmentation of elastic fibers, loss of
DE   smooth muscle cells, and an accumulation of basophilic ground
DE   substance.
SY   Aortic dissection familial with or without aortic aneurysm.
DR   MIM; 613780; phenotype.
DR   MedGen; C3151077.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 8.
AC   DI-03894
AR   AAT8.
DE   A disease characterized by permanent dilation of the thoracic aorta
DE   usually due to degenerative changes in the aortic wall. It is
DE   primarily associated with a characteristic histologic appearance known
DE   as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE   there is degeneration and fragmentation of elastic fibers, loss of
DE   smooth muscle cells, and an accumulation of basophilic ground
DE   substance.
DR   MIM; 615436; phenotype.
DR   MedGen; C3809513.
DR   MedGen; CN180164.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic aneurysm, familial thoracic 9.
AC   DI-04293
AR   AAT9.
DE   A disease characterized by permanent dilation of the thoracic aorta
DE   usually due to degenerative changes in the aortic wall. It is
DE   primarily associated with a characteristic histologic appearance known
DE   as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
DE   there is degeneration and fragmentation of elastic fibers, loss of
DE   smooth muscle cells, and an accumulation of basophilic ground
DE   substance.
SY   Aortic aneurysm, thoracic, with or without aortic dissection.
DR   MIM; 616166; phenotype.
DR   MedGen; CN224986.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Aortic valve disease 1.
AC   DI-01186
AR   AOVD1.
DE   A common defect in the aortic valve in which two rather than three
DE   leaflets are present. It is often associated with aortic valve
DE   calcification, stenosis and insufficiency. In extreme cases, the blood
DE   flow may be so restricted that the left ventricle fails to grow,
DE   resulting in hypoplastic left heart syndrome.
SY   Aortic valve disease.
SY   BAV.
SY   Bicuspid aortic valve.
SY   Calcific aortic stenosis.
SY   Calcification of aortic valve.
DR   MIM; 109730; phenotype.
DR   MedGen; C0149630.
DR   MedGen; C0428791.
DR   MedGen; C1260873.
DR   MeSH; D001024.
//
ID   Aortic valve disease 2.
AC   DI-03529
AR   AOVD2.
DE   A common defect in the aortic valve in which two rather than three
DE   leaflets are present. It is often associated with aortic valve
DE   calcification, stenosis and insufficiency. In extreme cases, the blood
DE   flow may be so restricted that the left ventricle fails to grow,
DE   resulting in hypoplastic left heart syndrome.
SY   Aortic valve stenosis.
SY   Bicuspid aortic valve.
DR   MIM; 614823; phenotype.
DR   MedGen; C3542024.
DR   MeSH; D001024.
//
ID   Aortic valve disease 3.
AC   DI-05612
AR   AOVD3.
DE   A common defect in the aortic valve in which two rather than three
DE   leaflets are present. It is often associated with aortic valve
DE   calcification, stenosis and insufficiency. In extreme cases, the blood
DE   flow may be so restricted that the left ventricle fails to grow,
DE   resulting in hypoplastic left heart syndrome. AOVD3 features are
DE   bicuspid aortic valve, aortic valve stenosis, and ascending aortic
DE   aneurysm. Some patients have atrial septal defects. AOVD3 inheritance
DE   is autosomal dominant with incomplete penetrance.
SY   Aortic valve stenosis.
SY   Bicuspid aortic valve.
DR   MIM; 618496; phenotype.
DR   MedGen; CN260588.
DR   MeSH; D001024.
//
ID   Apert syndrome.
AC   DI-00131
AR   APRS.
DE   A syndrome characterized by facio-cranio-synostosis, osseous and
DE   membranous syndactyly of the four extremities, and midface hypoplasia.
DE   The craniosynostosis is bicoronal and results in acrocephaly of
DE   brachysphenocephalic type. Syndactyly of the fingers and toes may be
DE   total (mitten hands and sock feet) or partial affecting the second,
DE   third, and fourth digits. Intellectual deficit is frequent and often
DE   severe, usually being associated with cerebral malformations.
SY   Acrocephalosyndactyly type 1.
SY   ACS1.
SY   ACS I.
DR   MIM; 101200; phenotype.
DR   MedGen; C0001193.
DR   MedGen; C1863389.
DR   MedGen; C1863390.
DR   MedGen; C1863391.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Aplasia cutis congenita, non-syndromic.
AC   DI-04202
AR   ACC.
DE   A disorder characterized by congenital absence of a portion of skin in
DE   a localized or widespread area of the body. The lesions are most
DE   commonly localized on the scalp, however aplasia cutis congenita can
DE   affect any part of the body.
SY   Congenital defect of skull and scalp.
SY   Congenital scalp defect.
DR   MIM; 107600; phenotype.
DR   MedGen; C0282160.
DR   MedGen; C2931779.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Aplasia of lacrimal and salivary glands.
AC   DI-01199
AR   ALSG.
DE   A rare condition characterized by dry conjunctival mucosae, irritable
DE   eyes, epiphora (constant tearing), and xerostomia (dryness of the
DE   mouth), which increases risk of dental erosion, dental caries,
DE   periodontal disease, and oral infections. ALSG has variable
DE   expressivity, and affected individuals may have aplasia or hypoplasia
DE   of the lacrimal, parotid, submandibular, and sublingual glands and
DE   absence of the lacrimal puncta.
SY   Absence of salivary glands.
SY   Parotid aplasia or hypoplasia.
DR   MIM; 180920; phenotype.
DR   MedGen; C0158667.
DR   MedGen; C1867059.
DR   MedGen; C1867060.
DR   MeSH; D007766.
DR   MeSH; D014987.
//
ID   Aplasia or hypoplasia of the breasts and/or nipples 2.
AC   DI-04216
AR   BNAH2.
DE   A group of congenital deformities encompassing total absence of
DE   breasts and nipple (amastia), absence of the nipple (athelia), and
DE   absence of the mammary gland (amazia).
DR   MIM; 616001; phenotype.
DR   MedGen; CN219250.
DR   MeSH; D000013.
DR   MeSH; D001941.
//
ID   Aplastic anemia.
AC   DI-02842
AR   AA.
DE   A form of anemia in which the bone marrow fails to produce adequate
DE   numbers of peripheral blood elements. It is characterized by
DE   peripheral pancytopenia and marrow hypoplasia.
DR   MIM; 609135; phenotype.
DR   MedGen; C2684859.
DR   MeSH; D000741.
//
ID   Apparent mineralocorticoid excess.
AC   DI-01187
AR   AME.
DE   An autosomal recessive form of low-renin hypertension. It is usually
DE   diagnosed within the first years of life and is characterized by
DE   polyuria and polydipsia, failure to thrive, hypernatremia, severe
DE   hypertension with low renin and aldosterone levels, profound
DE   hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.
SY   AME1.
SY   Cortisol 11-beta-ketoreductase deficiency.
DR   MIM; 218030; phenotype.
DR   MedGen; C2936861.
DR   MeSH; D043204.
//
ID   Arboleda-Tham syndrome.
AC   DI-04351
AR   ARTHS.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability, dysmorphic facial features, delayed psychomotor
DE   development, and lack of speech.
SY   KAT6A syndrome.
SY   MRD32.
DR   MIM; 616268; phenotype.
DR   MedGen; CN228654.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Argininemia.
AC   DI-00132
AR   ARGIN.
DE   A rare autosomal recessive disorder of the urea cycle. Arginine is
DE   elevated in the blood and cerebrospinal fluid, and periodic
DE   hyperammonemia occurs. Clinical manifestations include developmental
DE   delay, seizures, intellectual disability, hypotonia, ataxia and
DE   progressive spastic quadriplegia.
SY   ARG1 deficiency.
SY   Arginase-1 deficiency.
SY   Arginase deficiency.
SY   Hyperargininemia.
DR   MIM; 207800; phenotype.
DR   MedGen; C0268548.
DR   MeSH; D020162.
//
ID   Argininosuccinic aciduria.
AC   DI-00133
AR   ARGINSA.
DE   An autosomal recessive disorder of the urea cycle. The disease is
DE   characterized by mental and physical retardation, liver enlargement,
DE   skin lesions, dry and brittle hair showing trichorrhexis nodosa
DE   microscopically and fluorescing red, convulsions, and episodic
DE   unconsciousness.
SY   Argininosuccinase deficiency.
SY   Argininosuccinic acid lyase deficiency.
SY   ASAuria.
SY   ASL deficiency.
DR   MIM; 207900; phenotype.
DR   MedGen; C0268547.
DR   MeSH; D000592.
//
ID   Aromatase deficiency.
AC   DI-00134
AR   AROD.
DE   A rare disease in which fetal androgens are not converted into
DE   estrogens due to placental aromatase deficiency. Thus, pregnant women
DE   exhibit a hirsutism, which spontaneously resolves after post-partum.
DE   At birth, female babies present with pseudohermaphroditism due to
DE   virilization of extern genital organs. In adult females,
DE   manifestations include delay of puberty, breast hypoplasia and primary
DE   amenorrhoea with multicystic ovaries.
SY   Pseudohermaphroditism female due to placental aromatase deficiency.
DR   MIM; 613546; phenotype.
DR   MedGen; C0878680.
DR   MeSH; D008661.
DR   MeSH; D058489.
KW   KW-0657:Pseudohermaphroditism.
//
ID   Aromatase excess syndrome.
AC   DI-01569
AR   AEXS.
DE   An autosomal dominant disorder characterized by increased
DE   extraglandular aromatization of steroids that presents with
DE   heterosexual precocity in males and isosexual precocity in females.
SY   Familial gynecomastia.
SY   Familial gynecomastia due to increased aromatase activity.
SY   Hereditary gynecomastia.
SY   Increased aromatase activity.
DR   MIM; 139300; phenotype.
DR   MedGen; C1841762.
DR   MeSH; D006177.
//
ID   Aromatic L-amino-acid decarboxylase deficiency.
AC   DI-00135
AR   AADCD.
DE   An inborn error in neurotransmitter metabolism that leads to combined
DE   serotonin and catecholamine deficiency. It causes developmental and
DE   psychomotor delay, poor feeding, lethargy, ptosis, intermittent
DE   hypothermia, gastrointestinal disturbances. The onset is early in
DE   infancy and inheritance is autosomal recessive.
SY   Aromatic-L-amino-acid decarboxylase deficiency.
SY   DDC deficiency.
SY   DOPA decarboxylase deficiency.
DR   MIM; 608643; phenotype.
DR   MedGen; C1291564.
DR   MeSH; D000592.
//
ID   Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.
AC   DI-06765
AR   ARCME.
DE   An autosomal recessive disorder characterized by life-threatening
DE   dilated cardiomyopathy in early childhood, with or without features of
DE   inflammation on cardiac histology. There is also a variably expressed
DE   ectodermal phenotype, including wooly or wiry hair, wedged teeth,
DE   xerotic skin, and dystrophic nails. Cleft lip and palate and corneal
DE   abnormalities have also been observed.
DR   MIM; 620519; phenotype.
DR   MedGen; CN375523.
DR   MeSH; D004476.
DR   MeSH; D009202.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair.
AC   DI-04742
AR   ARVD11PK.
DE   An autosomal recessive disease characterized by arrhythmogenic
DE   cardiomyopathy in association with palmoplantar keratoderma and woolly
DE   hair.
SY   Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair.
SY   ARVD and mild palmoplantar keratoderma with or without woolly hair.
DR   MIM; 610476; phenotype.
DR   MedGen; C3552311.
DR   MeSH; D007645.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 1.
AC   DI-01549
AR   ARVD1.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 1.
SY   ARVC1.
SY   Cardiomyopathy right ventricular dilated.
SY   UHL anomaly.
DR   MIM; 107970; phenotype.
DR   MedGen; C0265857.
DR   MedGen; C1862511.
DR   MedGen; C1862512.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 10.
AC   DI-01554
AR   ARVD10.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 10.
SY   ARVC10.
DR   MIM; 610193; phenotype.
DR   MedGen; C1857777.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 11.
AC   DI-01555
AR   ARVD11.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 11.
SY   ARVC11.
DR   MIM; 610476; phenotype.
DR   MedGen; C1864850.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 12.
AC   DI-01556
AR   ARVD12.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 12.
SY   ARVC12.
DR   MIM; 611528; phenotype.
DR   MedGen; C1969081.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 13.
AC   DI-04014
AR   ARVD13.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 13.
SY   ARVC13.
DR   MIM; 615616; phenotype.
DR   MedGen; C3810138.
DR   MedGen; CN183913.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 14.
AC   DI-05863
AR   ARVD14.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
DR   MIM; 618920; phenotype.
DR   MedGen; CN283234.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 15.
AC   DI-06708
AR   ARVD15.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
DE   ARVD15 inheritance is autosomal dominant.
SY   Arrhythmogenic right ventricular cardiomyopathy, familial, 15.
DR   MIM; 617047; phenotype.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 5.
AC   DI-01551
AR   ARVD5.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 5.
SY   ARVC5.
DR   MIM; 604400; phenotype.
DR   MedGen; C1858379.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 8.
AC   DI-01552
AR   ARVD8.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 8.
SY   ARVC8.
DR   MIM; 607450; phenotype.
DR   MedGen; C1843896.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 9.
AC   DI-01553
AR   ARVD9.
DE   A congenital heart disease characterized by infiltration of adipose
DE   and fibrous tissue into the right ventricle and loss of myocardial
DE   cells, resulting in ventricular and supraventricular arrhythmias.
SY   Arrhythmogenic right ventricular cardiomyopathy 9.
SY   ARVC9.
DR   MIM; 609040; phenotype.
DR   MedGen; C1836906.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arterial calcification of infancy, generalized, 1.
AC   DI-01806
AR   GACI1.
DE   A severe autosomal recessive disorder characterized by calcification
DE   of the internal elastic lamina of muscular arteries and stenosis due
DE   to myointimal proliferation. The disorder is often fatal within the
DE   first 6 months of life because of myocardial ischemia resulting in
DE   refractory heart failure.
SY   GACI.
SY   Generalized arterial calcification of infancy.
SY   Idiopathic infantile arterial calcification.
SY   IIAC.
SY   Occlusive infantile arteriopathy.
DR   MIM; 208000; phenotype.
DR   MedGen; C1859727.
DR   MedGen; C1859728.
DR   MeSH; D061205.
//
ID   Arterial calcification of infancy, generalized, 2.
AC   DI-03382
AR   GACI2.
DE   A severe autosomal recessive disorder characterized by calcification
DE   of the internal elastic lamina of muscular arteries and stenosis due
DE   to myointimal proliferation. The disorder is often fatal within the
DE   first 6 months of life because of myocardial ischemia resulting in
DE   refractory heart failure.
DR   MIM; 614473; phenotype.
DR   MedGen; C3276161.
DR   MedGen; CN121653.
DR   MeSH; D061205.
//
ID   Arterial tortuosity syndrome.
AC   DI-01190
AR   ATORS.
DE   An autosomal recessive disorder characterized by tortuosity and
DE   elongation of major arteries, often resulting in death at young age.
DE   Other typical features include aneurysms of large arteries and
DE   stenosis of the pulmonary artery, in association with facial features
DE   and several connective tissue manifestations such as soft skin and
DE   joint laxity. Histopathological findings include fragmentation of
DE   elastic fibers in the tunica media of large arteries.
SY   Arterial tortuosity.
DR   MIM; 208050; phenotype.
DR   MedGen; C1859726.
DR   MeSH; D003240.
DR   MeSH; D014652.
//
ID   Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect.
AC   DI-04998
AR   AMC1.
DE   A form of arthrogryposis multiplex congenita, a developmental
DE   condition characterized by multiple joint contractures resulting from
DE   reduced or absent fetal movements. AMC1 is an autosomal recessive
DE   severe form with onset in utero. Most affected individuals die in
DE   utero. Those who survive have generalized contractures and hypotonia.
DE   The disorder is caused by a neurogenic defect and poor or absent
DE   myelin formation around peripheral nerves rather than by a muscular
DE   defect.
SY   AMCNMY.
SY   Arthrogryposis multiplex congenita, neurogenic, with myelin defect.
DR   MIM; 617468; phenotype.
DR   MedGen; CN243956.
DR   MeSH; D001176.
//
ID   Arthrogryposis multiplex congenita 2, neurogenic type.
AC   DI-05199
AR   AMC2.
DE   A form of arthrogryposis multiplex congenita, a heterogeneous group of
DE   disorders characterized by multiple joint contractures resulting, in
DE   some cases, from reduced or absent fetal movements. AMC2 is due to a
DE   neurogenic defect and is characterized by congenital immobility of the
DE   limbs with fixation of multiple joints, and muscle wasting. AMC2
DE   transmission pattern is consistent with autosomal recessive
DE   inheritance in several families. Penetrance may be incomplete in
DE   females.
SY   AMC, neurogenic type.
SY   AMCN.
SY   Arthrogryposis multiplex congenita, neurogenic type.
DR   MIM; 208100; phenotype.
DR   MedGen; C1859721.
DR   MeSH; D001176.
//
ID   Arthrogryposis multiplex congenita 3, myogenic type.
AC   DI-05605
AR   AMC3.
DE   A form of arthrogryposis multiplex congenita, a heterogeneous group of
DE   disorders characterized by multiple joint contractures resulting, in
DE   some cases, from reduced or absent fetal movements. AMC3 is an
DE   autosomal recessive form characterized by decreased fetal movements,
DE   muscular hypotonia, delayed motor development, loss of ambulation,
DE   variable skeletal defects, and persistent contractures of
DE   interphalangeal joints.
SY   AMCM.
SY   Arthrogryposis multiplex congenita, myogenic type.
DR   MIM; 618484; phenotype.
DR   MedGen; CN260593.
DR   MeSH; D001176.
//
ID   Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum.
AC   DI-05753
AR   AMC4.
DE   A form of arthrogryposis multiplex congenita, a developmental
DE   condition characterized by multiple joint contractures resulting from
DE   reduced or absent fetal movements. AMC4 is an autosomal recessive,
DE   severe form with onset in utero. Patients manifest little or no fetal
DE   movements, significant contractures affecting the upper and lower
DE   limbs, dysmorphic facial features, optic atrophy, limb fractures,
DE   profound global developmental delay, seizures, and peripheral
DE   neuropathy. Many patients die in early childhood.
SY   AMCNACC.
SY   Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum.
SY   Zain syndrome.
DR   MIM; 618766; phenotype.
DR   MedGen; C5231494.
DR   MeSH; D001176.
//
ID   Arthrogryposis multiplex congenita 5.
AC   DI-05874
AR   AMC5.
DE   A form of arthrogryposis multiplex congenita, a developmental
DE   condition characterized by multiple joint contractures resulting from
DE   reduced or absent fetal movements. AMC5 is an autosomal recessive form
DE   characterized by severe congenital contractures, developmental delay,
DE   strabismus and tremor.
DR   MIM; 618947; phenotype.
DR   MedGen; CN283302.
DR   MeSH; D001176.
//
ID   Arthrogryposis multiplex congenita 6.
AC   DI-06114
AR   AMC6.
DE   A form of arthrogryposis multiplex congenita, a developmental
DE   condition characterized by multiple joint contractures resulting from
DE   reduced or absent fetal movements. AMC6 is an autosomal recessive
DE   lethal form. Death usually occurs in utero or in infancy.
DR   MIM; 619334; phenotype.
DR   MedGen; CN296892.
DR   MeSH; D001176.
//
ID   Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.
AC   DI-05453
AR   ACCIID.
DE   An autosomal dominant disease characterized by moderate to severe
DE   intellectual disability, craniosynostosis, cleft palate, micrognathia,
DE   arthrogryposis, and short stature. Some patients may present bone
DE   abnormalities and generalized seizures.
DR   MIM; 618265; phenotype.
DR   MedGen; CN257944.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0989:Craniosynostosis.
KW   KW-0991:Intellectual disability.
//
ID   Arthrogryposis, distal, 11.
AC   DI-06491
AR   DA11.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   DA11 is an autosomal dominant form characterized mainly by
DE   camptodactyly. Other features include absent flexion creases and
DE   limited forearm supination.
DR   MIM; 620019; phenotype.
DR   MedGen; CN315964.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 1A.
AC   DI-01491
AR   DA1A.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   Distal arthrogryposis type 1 is characterized largely by camptodactyly
DE   and clubfoot. Hypoplasia and/or absence of some interphalangeal
DE   creases is common. The shoulders and hips are less frequently
DE   affected.
SY   AMC.
SY   AMCD1.
SY   Arthrogryposis multiplex congenita.
SY   Arthrogryposis multiplex congenita distal type 1.
DR   MIM; 108120; phenotype.
DR   MedGen; C0220662.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 1B.
AC   DI-03302
AR   DA1B.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   Distal arthrogryposis type 1 is characterized largely by camptodactyly
DE   and clubfoot. Hypoplasia and/or absence of some interphalangeal
DE   creases is common. The shoulders and hips are less frequently
DE   affected.
DR   MIM; 614335; phenotype.
DR   MedGen; C3280526.
DR   MedGen; CN118811.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 1C.
AC   DI-05980
AR   DA1C.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   DA1C patients show multiple congenital contractures, scoliosis, short
DE   stature, and segmental amyoplasia. DA1C inheritance can be autosomal
DE   recessive or autosomal dominant.
SY   Arthrogryposis, distal, type 1C.
DR   MIM; 619110; phenotype.
DR   MedGen; CN293563.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2A.
AC   DI-01492
AR   DA2A.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   DA2A is characterized by contractures of the hands and feet,
DE   oropharyngeal abnormalities, scoliosis, and a distinctive face that
DE   includes a very small oral orifice, puckered lips, and a H-shaped
DE   dimple of the chin.
SY   Craniocarpotarsal dysplasia.
SY   Craniocarpotarsal dystrophy.
SY   Freeman-Sheldon syndrome.
SY   FSS.
SY   Whistling face-windmill vane hand syndrome.
DR   MIM; 193700; phenotype.
DR   MedGen; C0265224.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2B1.
AC   DI-01493
AR   DA2B1.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   DA2B is characterized by contractures of the hands and feet, and a
DE   distinctive face characterized by prominent nasolabial folds, small
DE   mouth and downslanting palpebral fissures. DA2B1 inheritance is
DE   autosomal dominant.
SY   AMCD2B.
SY   Arthrogryposis multiplex congenita distal type 2B.
SY   Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities.
SY   Freeman-Sheldon syndrome variant.
SY   FSSV.
SY   Sheldon-Hall syndrome.
SY   SHS.
DR   MIM; 601680; phenotype.
DR   MedGen; C1834523.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2B2.
AC   DI-05569
AR   DA2B2.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   Distal arthrogryposis type 2 is characterized by contractures of the
DE   hands and feet, and a distinctive face characterized by prominent
DE   nasolabial folds, small mouth and downslanting palpebral fissures.
DE   DA2B2 inheritance is autosomal dominant.
SY   Arthrogryposis, distal, type 2B2.
DR   MIM; 618435; phenotype.
DR   MedGen; CN258392.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2B3.
AC   DI-05570
AR   DA2B3.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   Distal arthrogryposis type 2 is characterized by contractures of the
DE   hands and feet, and a distinctive face characterized by prominent
DE   nasolabial folds, small mouth and downslanting palpebral fissures.
DE   DA2B3 inheritance is autosomal dominant.
DR   MIM; 618436; phenotype.
DR   MedGen; CN258393.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2B4.
AC   DI-05559
AR   DA2B4.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   Distal arthrogryposis type 2 is characterized by contractures of the
DE   hands and feet, and a distinctive face characterized by prominent
DE   nasolabial folds, small mouth and downslanting palpebral fissures.
SY   Arthrogryposis, distal, type 2B4.
DR   MIM; 108120; phenotype.
DR   MedGen; C5193002.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 3.
AC   DI-04138
AR   DA3.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease. DA3
DE   features include short stature and cleft palate.
SY   Arthrogryposis multiplex congenita, distal, type IIA.
SY   Camptodactyly, cleft palate, and clubfoot.
SY   Gordon syndrome.
DR   MIM; 114300; phenotype.
DR   MedGen; C0220666.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 5.
AC   DI-04009
AR   DA5.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease. DA5
DE   features include ocular abnormalities, typically ptosis,
DE   ophthalmoplegia and/or strabismus, in addition to contractures of the
DE   skeletal muscles. Some patients have pulmonary hypertension as a
DE   result of restrictive lung disease.
SY   Arthrogryposis with oculomotor limitation and electroretinal abnormalities.
SY   DAIIB.
SY   Distal arthrogryposis type IIB.
SY   Oculomelic amyoplasia.
DR   MIM; 108145; phenotype.
DR   MedGen; C1862472.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 5D.
AC   DI-03688
AR   DA5D.
DE   An autosomal recessive form of distal arthrogryposis, a disease
DE   characterized by congenital joint contractures that mainly involve two
DE   or more distal parts of the limbs, in the absence of a primary
DE   neurological or muscle disease. DA5D is characterized by severe
DE   camptodactyly of the hands, mild camptodactyly of the toes, clubfoot
DE   and/or a calcaneovalgus deformity, extension contractures of the knee,
DE   unilateral ptosis or ptosis that is more severe on one side, a round-
DE   shaped face, arched eyebrows, a bulbous upturned nose, and
DE   micrognathia. Patients do not have ophthalmoplegia.
DR   MIM; 615065; phenotype.
DR   MedGen; C3554415.
DR   MedGen; CN165245.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, 7.
AC   DI-02392
AR   DA7.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease. DA7
DE   is characterized by an inability to open the mouth fully (trismus) and
DE   pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion,
DE   produces involuntary flexion contracture of distal and proximal
DE   interphalangeal joints. Additional features include shortened
DE   hamstring muscles and short stature.
SY   Dutch-Kentucky syndrome.
SY   Hecht syndrome.
SY   Trismus-pseudocamptodactyly syndrome.
DR   MIM; 158300; phenotype.
DR   MedGen; C0265226.
DR   MeSH; D001176.
//
ID   Arthrogryposis, distal, with impaired proprioception and touch.
AC   DI-04863
AR   DAIPT.
DE   A form of distal arthrogryposis, a disease characterized by congenital
DE   joint contractures that mainly involve two or more distal parts of the
DE   limbs, in the absence of a primary neurological or muscle disease.
DE   DAIPT is an autosomal recessive disease characterized by selective
DE   loss of discriminative touch perception, ataxia, difficulty walking,
DE   dysmetria, and progressive skeletal contractures.
DR   MIM; 617146; phenotype.
DR   MedGen; CN238693.
DR   MeSH; D001176.
//
ID   Arthrogryposis, impaired intellectual development, and seizures.
AC   DI-03977
AR   AMRS.
DE   A disease characterized by arthrogryposis, intellectual disability,
DE   autism spectrum disorder, and epilepsy. Additional features include
DE   limb malformations, distal joint involvement, microcephaly,
DE   retromicrognathia, and general muscle hypotonia.
DR   MIM; 615553; phenotype.
DR   MedGen; C3809910.
DR   MedGen; CN182249.
DR   MeSH; D001176.
DR   MeSH; D008607.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Arthrogryposis, Perthes disease, and upward gaze palsy.
AC   DI-04768
AR   APUG.
DE   An autosomal recessive, syndromic form of arthrogryposis, a disease
DE   characterized by persistent joints flexure or contracture. APUG
DE   patients manifest an unusual combination of arthrogryposis, upward
DE   gaze palsy, and avascular necrosis of the hip (Perthes disease).
DR   MIM; 614262; phenotype.
DR   MedGen; C3280309.
DR   MeSH; D001176.
DR   MeSH; D007873.
DR   MeSH; D015835.
//
ID   Arthrogryposis, renal dysfunction and cholestasis syndrome 1.
AC   DI-00136
AR   ARCS1.
DE   A multisystem disorder, characterized by neurogenic arthrogryposis
DE   multiplex congenita, renal tubular dysfunction and neonatal
DE   cholestasis with bile duct hypoplasia and low gamma glutamyl
DE   transpeptidase activity. Platelet dysfunction is common.
SY   ARCS.
SY   ARC syndrome.
SY   Arthrogryposis renal dysfunction and cholestasis 1.
DR   MIM; 208085; phenotype.
DR   MedGen; C1859722.
DR   MeSH; D001176.
DR   MeSH; D002779.
DR   MeSH; D051437.
//
ID   Arthrogryposis, renal dysfunction and cholestasis syndrome 2.
AC   DI-02624
AR   ARCS2.
DE   A multisystem disorder, characterized by neurogenic arthrogryposis
DE   multiplex congenita, renal tubular dysfunction and neonatal
DE   cholestasis with bile duct hypoplasia and low gamma glutamyl
DE   transpeptidase activity. Platelet dysfunction is common.
SY   Arthrogryposis renal dysfunction and cholestasis 2.
DR   MIM; 613404; phenotype.
DR   MedGen; C3150672.
DR   MeSH; D001176.
DR   MeSH; D002779.
DR   MeSH; D051437.
//
ID   ARTS syndrome.
AC   DI-01191
AR   ARTS.
DE   A disorder characterized by intellectual disability, early-onset
DE   hypotonia, ataxia, delayed motor development, hearing impairment, and
DE   optic atrophy. Susceptibility to infections, especially of the upper
DE   respiratory tract, can result in early death.
SY   Fatal X-linked ataxia with deafness and loss of vision.
SY   MRXS18.
SY   MRXSARTS.
DR   MIM; 301835; phenotype.
DR   MedGen; C0796028.
DR   MeSH; D038901.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Asparagine synthetase deficiency.
AC   DI-03985
AR   ASNSD.
DE   An inborn error of asparagine biosynthesis that results in a severe
DE   neurologic disorder characterized by microcephaly, severely delayed
DE   psychomotor development, progressive encephalopathy, cortical atrophy,
DE   and seizure or hyperekplexic activity.
SY   ASNS deficiency.
DR   MIM; 615574; phenotype.
DR   MedGen; C3809971.
DR   MedGen; CN185291.
DR   MeSH; D000592.
KW   KW-0991:Intellectual disability.
//
ID   Aspartylglucosaminuria.
AC   DI-00137
AR   AGU.
DE   An inborn lysosomal storage disease causing excess accumulation of
DE   glycoasparagine in the body tissues and its increased excretion in
DE   urine. Clinical features include mild to severe intellectual
DE   disability manifesting from the age of two, coarse facial features and
DE   mild connective tissue abnormalities.
SY   AGA deficiency.
SY   Aspartylglucosaminidase deficiency.
SY   Aspartylglycosaminuria.
SY   Glycosylasparaginase deficiency.
DR   MIM; 208400; phenotype.
DR   MedGen; C0268225.
DR   MedGen; C2931840.
DR   MedGen; CN068400.
DR   MeSH; D054880.
//
ID   Asplenia, isolated congenital.
AC   DI-03692
AR   ICAS.
DE   A rare primary immunodeficiency and life-threatening condition, often
DE   presenting with pneumococcal sepsis. Most affected individuals die of
DE   severe bacterial infections in early childhood. Isolated asplenia is
DE   distinct from asplenia associated with other complex visceral defects,
DE   notably heterotaxy syndromes such as Ivemark syndrome.
SY   Congenital isolated hyposplenia.
SY   Familial asplenia.
SY   Splenic hypoplasia.
DR   MIM; 271400; phenotype.
DR   MedGen; C0685889.
DR   MedGen; C1849084.
DR   MeSH; D007153.
//
ID   Asthma.
AC   DI-02482
AR   ASTHMA.
DE   The most common chronic disease affecting children and young adults.
DE   It is a complex genetic disorder with a heterogeneous phenotype,
DE   largely attributed to the interactions among many genes and between
DE   these genes and the environment. It is characterized by recurrent
DE   attacks of paroxysmal dyspnea, with wheezing due to spasmodic
DE   contraction of the bronchi.
SY   Bronchial asthma.
DR   MIM; 600807; phenotype.
DR   MedGen; C1833269.
DR   MedGen; C1833270.
DR   MedGen; C1869116.
DR   MeSH; D001249.
KW   KW-1058:Asthma.
//
ID   Asthma, with nasal polyps and aspirin intolerance.
AC   DI-02739
AR   ANPAI.
DE   A condition consisting of asthma, aspirin sensitivity and nasal
DE   polyposis. Nasal polyposis is due to chronic inflammation of the
DE   paranasal sinus mucosa, leading to protrusion of edematous polyps into
DE   the nasal cavities.
SY   AIA.
SY   ASA triad.
SY   Aspirin-intolerant asthma.
SY   Asthma and nasal polyps.
SY   Asthma aspirin-induced.
SY   Nasal polyps asthma and aspirin sensitivity.
SY   Samter triad.
DR   MIM; 208550; phenotype.
DR   MedGen; C1858067.
DR   MedGen; C1859648.
DR   MedGen; C1876174.
DR   MeSH; D055963.
KW   KW-1058:Asthma.
//
ID   Asthma-related traits 1.
AC   DI-02869
AR   ASRT1.
DE   Asthma-related traits include clinical symptoms of asthma, such as
DE   coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE   by methacholine challenge test, serum IgE levels, atopy and atopic
DE   dermatitis.
DR   MIM; 607277; phenotype.
DR   MedGen; C1846534.
DR   MeSH; D001249.
KW   KW-1058:Asthma.
//
ID   Asthma-related traits 2.
AC   DI-02880
AR   ASRT2.
DE   Asthma-related traits include clinical symptoms of asthma, such as
DE   coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE   by methacholine challenge test, serum IgE levels, atopy and atopic
DE   dermatitis.
DR   MIM; 608584; phenotype.
DR   MedGen; C1837811.
DR   MeSH; D001249.
KW   KW-1058:Asthma.
//
ID   Asthma-related traits 5.
AC   DI-02870
AR   ASRT5.
DE   Asthma-related traits include clinical symptoms of asthma, such as
DE   coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE   by methacholine challenge test, serum IgE levels, atopy and atopic
DE   dermatitis.
DR   MIM; 611064; phenotype.
DR   MedGen; C1970224.
DR   MeSH; D001249.
KW   KW-1058:Asthma.
//
ID   Asthma-related traits 7.
AC   DI-02871
AR   ASRT7.
DE   Asthma-related traits include clinical symptoms of asthma, such as
DE   coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed
DE   by methacholine challenge test, serum IgE levels, atopy and atopic
DE   dermatitis.
DR   MIM; 611960; phenotype.
DR   MedGen; C2677770.
DR   MeSH; D001249.
KW   KW-1058:Asthma.
//
ID   Ataxia and polyneuropathy, adult-onset.
AC   DI-04887
AR   APAO.
DE   A mitochondrial disease characterized by ataxia, axonal sensorimotor
DE   polyneuropathy, abnormal eye movements, and dysarthria.
DR   MIM; 500010; phenotype.
DR   MedGen; C1838916.
DR   MeSH; D001259.
DR   MeSH; D011115.
DR   MeSH; D028361.
KW   KW-0622:Neuropathy.
//
ID   Ataxia telangiectasia.
AC   DI-00139
AR   AT.
DE   A rare recessive disorder characterized by progressive cerebellar
DE   ataxia, dilation of the blood vessels in the conjunctiva and eyeballs,
DE   immunodeficiency, growth retardation and sexual immaturity. Patients
DE   have a strong predisposition to cancer; about 30% of patients develop
DE   tumors, particularly lymphomas and leukemias. Cells from affected
DE   individuals are highly sensitive to damage by ionizing radiation and
DE   resistant to inhibition of DNA synthesis following irradiation.
SY   AT1.
SY   Ataxia-telangiectasia.
SY   Louis-Bar syndrome.
DR   MIM; 208900; phenotype.
DR   MedGen; C0004135.
DR   MedGen; C1859616.
DR   MedGen; C1876175.
DR   MeSH; D001260.
KW   KW-0523:Neurodegeneration.
//
ID   Ataxia with vitamin E deficiency.
AC   DI-00141
AR   AVED.
DE   An autosomal recessive disease characterized by undetectable or
DE   markedly reduced plasma levels of vitamin E, spinocerebellar
DE   degeneration, ataxia, areflexia and proprioception loss.
SY   Ataxia Friedreich-like with selective vitamin E deficiency.
SY   Familial isolated vitamin E deficiency.
DR   MIM; 277460; phenotype.
DR   MedGen; C1848533.
DR   MeSH; D014811.
//
ID   Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.
AC   DI-04316
AR   ACPHD.
DE   A disease characterized by juvenile-onset diabetes and
DE   neurodegeneration, resulting in ataxia, upper-motor-neuron damage,
DE   peripheral neuropathy, hearing loss, and cerebral atrophy.
DR   MIM; 616192; phenotype.
DR   MedGen; CN225195.
DR   MeSH; D001259.
DR   MeSH; D003920.
DR   MeSH; D020271.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.
AC   DI-06132
AR   ATITHS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, mildly impaired intellectual development
DE   with speech delay or learning disabilities, delayed walking due to
DE   ataxia, intention tremor, and hypotonia apparent from early childhood.
DE   Brain imaging shows cerebellar atrophy in some patients.
DR   MIM; 619352; phenotype.
DR   MedGen; CN297072.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Ataxia, sensory, 1, autosomal dominant.
AC   DI-03449
AR   SNAX1.
DE   A rare disease characterized by progressive ataxia caused by
DE   degeneration of the posterior columns of the spinal cord. Affected
DE   individuals have a reduced ability to feel pain, temperature and
DE   vibration, particularly in the hands and feet. Their most prominent
DE   feature is an ataxic gait resulting from a severe loss of
DE   proprioception. Thus, patients rely on visual cues for maintaining
DE   proper body posture, such that they are unable to remain upright if
DE   their eyes are closed (Romberg sign).
SY   ADSA.
DR   MIM; 608984; phenotype.
DR   MedGen; C1837015.
DR   MeSH; D001259.
//
ID   Ataxia-oculomotor apraxia 3.
AC   DI-03724
AR   AOA3.
DE   An autosomal recessive disease characterized by cerebellar ataxia,
DE   oculomotor apraxia, areflexia and peripheral neuropathy.
DR   MIM; 615217; phenotype.
DR   MedGen; C3554690.
DR   MedGen; CN169372.
DR   MeSH; D001072.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Ataxia-oculomotor apraxia 4.
AC   DI-04356
AR   AOA4.
DE   An autosomal recessive disease characterized by cerebellar ataxia,
DE   oculomotor apraxia, areflexia and peripheral neuropathy.
DR   MIM; 616267; phenotype.
DR   MedGen; CN228595.
DR   MeSH; D001072.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Ataxia-oculomotor apraxia syndrome.
AC   DI-00138
AR   AOA.
DE   An autosomal recessive syndrome characterized by early-onset
DE   cerebellar ataxia, oculomotor apraxia, early areflexia and late
DE   peripheral neuropathy.
SY   AOA1.
SY   Ataxia early-onset with oculomotor apraxia and hypoalbuminemia.
SY   Ataxia-oculomotor apraxia 1.
SY   Cerebellar ataxia early-onset with hypoalbuminemia.
SY   EAOH.
SY   EOCA-HA.
DR   MIM; 208920; phenotype.
DR   MedGen; C1859598.
DR   MeSH; D001072.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Ataxia-pancytopenia syndrome.
AC   DI-04781
AR   ATXPC.
DE   An autosomal dominant disorder characterized by cerebellar ataxia,
DE   variable hematologic cytopenias, and predisposition to bone marrow
DE   failure and myeloid leukemia.
SY   Myelocerebellar disorder.
DR   MIM; 159550; phenotype.
DR   MedGen; C1327919.
DR   MeSH; D002524.
DR   MeSH; D010198.
//
ID   Ataxia-telangiectasia-like disorder 1.
AC   DI-00140
AR   ATLD1.
DE   A rare disorder characterized by progressive cerebellar ataxia,
DE   dysarthria, abnormal eye movements, and absence of telangiectasia.
DE   ATLD patients show normal levels of total IgG, IgA and IgM, although
DE   there may be reduced levels of specific functional antibodies. At the
DE   cellular level, ATLD exhibits hypersensitivity to ionizing radiation
DE   and radioresistant DNA synthesis.
SY   Ataxia-telangiectasia-like disorder.
SY   ATLD.
DR   MIM; 604391; phenotype.
DR   MedGen; C1858391.
DR   MeSH; D002524.
DR   MeSH; D049914.
//
ID   Ataxia-telangiectasia-like disorder 2.
AC   DI-04180
AR   ATLD2.
DE   A neurodegenerative disorder due to defects in DNA excision repair.
DE   ATLD2 is characterized by developmental delay, ataxia, sensorineural
DE   hearing loss, short stature, cutaneous and ocular telangiectasia, and
DE   photosensitivity.
DR   MIM; 615919; phenotype.
DR   MedGen; CN197312.
DR   MeSH; D001259.
DR   MeSH; D049914.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0523:Neurodegeneration.
//
ID   Atelis syndrome 1.
AC   DI-06582
AR   ATELS1.
DE   A form of Atelis syndrome, an autosomal recessive neurodevelopmental
DE   disorder characterized by mild to severe developmental delay, learning
DE   difficulties, microcephaly, and growth restriction with short stature.
DE   Additional features include anemia, skin hyperpigmentation, ocular
DE   anomalies, congenital heart defects, and mild skeletal abnormalities.
DE   Death in childhood may occur. Patient cells show spontaneous
DE   chromosome breakage and chromosomal anomalies, hallmarked by segmented
DE   and dicentric chromosomes and mosaic variegated hyperploidy.
SY   Mosaic variegated aneuploidy syndrome 5.
SY   MVA5.
SY   Poor growth, microcephaly, developmental delay, and anemia.
DR   MIM; 620184; phenotype.
DR   MedGen; CN322767.
DR   MeSH; D025063.
DR   MeSH; D065886.
//
ID   Atelis syndrome 2.
AC   DI-06583
AR   ATELS2.
DE   A form of Atelis syndrome, an autosomal recessive neurodevelopmental
DE   disorder characterized by mild to severe developmental delay, learning
DE   difficulties, microcephaly, and growth restriction with short stature.
DE   Additional features include anemia, skin hyperpigmentation, ocular
DE   anomalies, congenital heart defects, and mild skeletal abnormalities.
DE   Death in childhood may occur. Patient cells show spontaneous
DE   chromosome breakage and chromosomal anomalies, hallmarked by segmented
DE   and dicentric chromosomes and mosaic variegated hyperploidy.
SY   Mosaic variegated aneuploidy syndrome 6.
SY   MVA6.
SY   Poor growth, microcephaly, dysmorphic facies, and cardiac defects.
DR   MIM; 620185; phenotype.
DR   MedGen; CN322768.
DR   MeSH; D025063.
DR   MeSH; D065886.
//
ID   Atelosteogenesis 1.
AC   DI-00142
AR   AO1.
DE   A lethal chondrodysplasia characterized by distal hypoplasia of the
DE   humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally
DE   complete lack of ossification of single hand bones, and the finding in
DE   cartilage of multiple degenerated chondrocytes which are encapsulated
DE   in fibrous tissue.
SY   AOI.
SY   Atelosteogenesis type I.
SY   Giant cell chondrodysplasia.
SY   Spondylohumerofemoral hypoplasia.
DR   MIM; 108720; phenotype.
DR   MedGen; C0265283.
DR   MeSH; D010009.
//
ID   Atelosteogenesis 2.
AC   DI-00143
AR   AO2.
DE   A perinatal dysplasia characterized by shortening of the limbs, a
DE   dysmorphic syndrome and radiographic skeletal features. Patients are
DE   stillborn or die soon after birth.
SY   AO-II.
SY   Atelosteogenesis type II.
SY   Neonatal osseous dysplasia 1.
SY   Neonatal osseous dysplasia type I.
DR   MIM; 256050; phenotype.
DR   MedGen; C1850554.
DR   MedGen; C1850555.
DR   MeSH; D010009.
//
ID   Atelosteogenesis 3.
AC   DI-00144
AR   AO3.
DE   A short-limb lethal skeletal dysplasia with vertebral abnormalities,
DE   disharmonious skeletal maturation, poorly modeled long bones and joint
DE   dislocations. Recurrent respiratory insufficiency and/or infections
DE   usually result in early death.
SY   AOIII.
SY   Atelosteogenesis type III.
DR   MIM; 108721; phenotype.
DR   MedGen; C1862414.
DR   MeSH; D010009.
//
ID   Athabaskan brainstem dysgenesis syndrome.
AC   DI-01193
AR   ABDS.
DE   Characterized by horizontal gaze palsy, sensorineural deafness,
DE   central hypoventilation, and developmental delay. Some patients had
DE   swallowing dysfunction, vocal cord paralysis, facial paresis,
DE   seizures, and cardiac outflow tract anomalies.
SY   Narvajo brainstem syndrome.
DR   MIM; 601536; phenotype.
DR   MedGen; C1832215.
DR   MeSH; D006319.
DR   MeSH; D009421.
//
ID   Atopic hypersensitivity.
AC   DI-03286
AR   ATOPY.
DE   A condition characterized by predisposition to develop
DE   hypersensitivity reactions. Atopic individuals can develop eczema,
DE   allergic rhinitis and allergic asthma.
SY   Atopy.
DR   MIM; 147050; phenotype.
DR   MedGen; C0020523.
DR   MedGen; C0236175.
DR   MedGen; C1840253.
DR   MedGen; C1840254.
DR   MeSH; D006969.
//
ID   Atransferrinemia.
AC   DI-00145
AR   ATRAF.
DE   A rare autosomal recessive disorder characterized by abnormal
DE   synthesis of transferrin leading to iron overload and microcytic
DE   hypochromic anemia.
DR   MIM; 209300; phenotype.
DR   MedGen; C0521802.
DR   MedGen; C1859593.
DR   MedGen; C3277918.
DR   MeSH; D008664.
//
ID   Atrial fibrillation, familial, 10.
AC   DI-03122
AR   ATFB10.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 614022; phenotype.
DR   MedGen; C3151464.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 11.
AC   DI-03142
AR   ATFB11.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 614049; phenotype.
DR   MedGen; C3279693.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 12.
AC   DI-03143
AR   ATFB12.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 614050; phenotype.
DR   MedGen; C3279695.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 13.
AC   DI-03855
AR   ATFB13.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 615377; phenotype.
DR   MedGen; C3809311.
DR   MedGen; CN179765.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 14.
AC   DI-03856
AR   ATFB14.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 615378; phenotype.
DR   MedGen; C3809312.
DR   MedGen; CN179766.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 15.
AC   DI-04082
AR   ATFB15.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 615770; phenotype.
DR   MedGen; CN186322.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 16.
AC   DI-04165
AR   ATFB16.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 613120; phenotype.
DR   MedGen; CN220307.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 17.
AC   DI-04164
AR   ATFB17.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 611819; phenotype.
DR   MedGen; CN196901.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 18.
AC   DI-04898
AR   ATFB18.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 617280; phenotype.
DR   MedGen; CN239939.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 3.
AC   DI-00146
AR   ATFB3.
DE   An autosomal dominant form of atrial fibrillation, a common sustained
DE   cardiac rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 607554; phenotype.
DR   MedGen; C1837014.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 4.
AC   DI-00147
AR   ATFB4.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 611493; phenotype.
DR   MedGen; C1862394.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 6.
AC   DI-00148
AR   ATFB6.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 612201; phenotype.
DR   MedGen; C2677294.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 7.
AC   DI-00149
AR   ATFB7.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 612240; phenotype.
DR   MedGen; C2677106.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial fibrillation, familial, 9.
AC   DI-03121
AR   ATFB9.
DE   A familial form of atrial fibrillation, a common sustained cardiac
DE   rhythm disturbance. Atrial fibrillation is characterized by
DE   disorganized atrial electrical activity and ineffective atrial
DE   contraction promoting blood stasis in the atria and reduces
DE   ventricular filling. It can result in palpitations, syncope,
DE   thromboembolic stroke, and congestive heart failure.
DR   MIM; 613980; phenotype.
DR   MedGen; C3151431.
DR   MeSH; D001281.
KW   KW-1020:Atrial fibrillation.
//
ID   Atrial septal defect 2.
AC   DI-00150
AR   ASD2.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria. Patients show other heart abnormalities including
DE   ventricular and atrioventricular septal defects, pulmonary valve
DE   thickening or insufficiency of the cardiac valves. The disease is not
DE   associated with defects in the cardiac conduction system or non-
DE   cardiac abnormalities.
DR   MIM; 607941; phenotype.
DR   MedGen; C1842778.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 3.
AC   DI-00151
AR   ASD3.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria.
DR   MIM; 614089; phenotype.
DR   MedGen; C1834527.
DR   MedGen; C3279790.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 4.
AC   DI-00152
AR   ASD4.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria. Patients show other heart abnormalities including
DE   defects in septation, chamber growth and valvulogenesis. The disease
DE   is not associated with defects in the cardiac conduction system or
DE   with non-cardiac abnormalities.
DR   MIM; 611363; phenotype.
DR   MedGen; C1969657.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 5.
AC   DI-02497
AR   ASD5.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria.
DR   MIM; 612794; phenotype.
DR   MedGen; C2748552.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 6.
AC   DI-02498
AR   ASD6.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria.
DR   MIM; 613087; phenotype.
DR   MedGen; C2751315.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 7, with or without atrioventricular conduction defects.
AC   DI-00153
AR   ASD7.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria, and atrioventricular conduction defects in some
DE   cases.
SY   ASD with atrioventricular conduction defects.
SY   ASD with or without atrioventricular conduction defects.
SY   Atrial septal defect 7 with or without AV conduction defects.
DR   MIM; 108900; phenotype.
DR   MedGen; C1862388.
DR   MedGen; C3276096.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 8.
AC   DI-03333
AR   ASD8.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria.
DR   MIM; 614433; phenotype.
DR   MedGen; C3280790.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial septal defect 9.
AC   DI-03370
AR   ASD9.
DE   A congenital heart malformation characterized by incomplete closure of
DE   the wall between the atria resulting in blood flow from the left to
DE   the right atria. Some patients manifest tricuspid valve disease,
DE   pulmonary valve disease, and pulmonary artery hypertension.
DR   MIM; 614475; phenotype.
DR   MedGen; C3280943.
DR   MeSH; D006344.
KW   KW-0976:Atrial septal defect.
//
ID   Atrial standstill 1.
AC   DI-01557
AR   ATRST1.
DE   A rare arrhythmia characterized by the absence of electrical and
DE   mechanical activity in the atria. Electrocardiographically, it is
DE   characterized by bradycardia, the absence of P waves, and a junctional
DE   narrow complex escape rhythm.
SY   Atrial cardiomyopathy with heart block.
SY   Familial cardiomyopathy with conduction disturbance.
DR   MIM; 108770; phenotype.
DR   MedGen; C1838539.
DR   MeSH; D006327.
DR   MeSH; D009202.
KW   KW-0122:Cardiomyopathy.
//
ID   Atrial standstill 2.
AC   DI-04075
AR   ATRST2.
DE   A rare arrhythmia characterized by the absence of electrical and
DE   mechanical activity in the atria. Electrocardiographically, it is
DE   characterized by bradycardia, the absence of P waves, and a junctional
DE   narrow complex escape rhythm.
SY   Atrial dilated cardiomyopathy with atrial standstill.
SY   Atrial dilation and standstill.
DR   MIM; 615745; phenotype.
DR   MedGen; C3810401.
DR   MedGen; CN186043.
DR   MeSH; D006327.
DR   MeSH; D009202.
KW   KW-0122:Cardiomyopathy.
//
ID   Atrichia with papular lesions.
AC   DI-00154
AR   APL.
DE   An autosomal recessive disease characterized by papillary lesions over
DE   most of the body and almost complete absence of hair.
SY   Congenital atrichia.
SY   Papular atrichia.
DR   MIM; 209500; phenotype.
DR   MedGen; C1859592.
DR   MeSH; D000505.
//
ID   Atrioventricular septal defect 2.
AC   DI-01195
AR   AVSD2.
DE   A congenital heart malformation characterized by a common
DE   atrioventricular junction coexisting with deficient atrioventricular
DE   septation. The complete form involves underdevelopment of the lower
DE   part of the atrial septum and the upper part of the ventricular
DE   septum; the valve itself is also shared. A less severe form, known as
DE   ostium primum atrial septal defect, is characterized by separate
DE   atrioventricular valvar orifices despite a common junction.
DR   MIM; 606217; phenotype.
DR   MedGen; C1853508.
DR   MedGen; C1853509.
DR   MeSH; D004694.
//
ID   Atrioventricular septal defect 4.
AC   DI-03332
AR   AVSD4.
DE   A congenital heart malformation characterized by a common
DE   atrioventricular junction coexisting with deficient atrioventricular
DE   septation. The complete form involves underdevelopment of the lower
DE   part of the atrial septum and the upper part of the ventricular
DE   septum; the valve itself is also shared. A less severe form, known as
DE   ostium primum atrial septal defect, is characterized by separate
DE   atrioventricular valvar orifices despite a common junction.
DR   MIM; 614430; phenotype.
DR   MedGen; C3280781.
DR   MeSH; D004694.
//
ID   Atrioventricular septal defect 5.
AC   DI-03369
AR   AVSD5.
DE   A congenital heart malformation characterized by a common
DE   atrioventricular junction coexisting with deficient atrioventricular
DE   septation. The complete form involves underdevelopment of the lower
DE   part of the atrial septum and the upper part of the ventricular
DE   septum; the valve itself is also shared. A less severe form, known as
DE   ostium primum atrial septal defect, is characterized by separate
DE   atrioventricular valvar orifices despite a common junction.
DR   MIM; 614474; phenotype.
DR   MedGen; C3280939.
DR   MeSH; D004694.
//
ID   Attention deficit-hyperactivity disorder 7.
AC   DI-02574
AR   ADHD7.
DE   A neurobehavioral developmental disorder primarily characterized by
DE   the coexistence of attentional problems and hyperactivity, with each
DE   behavior occurring infrequently alone.
DR   MIM; 613003; phenotype.
DR   MedGen; C2751802.
DR   MeSH; D001289.
//
ID   Attention deficit-hyperactivity disorder 8.
AC   DI-06470
AR   ADHD8.
DE   A form of attention deficit-hyperactivity disorder, a neurobehavioral
DE   developmental condition primarily characterized by the coexistence of
DE   attentional problems and hyperactivity, with each feature occurring
DE   infrequently alone. ADHD8 is an autosomal recessive form with onset in
DE   early childhood, usually by age 3 years. ADHD8 patients may manifest
DE   mild developmental delay with autism.
DR   MIM; 619957; phenotype.
DR   MedGen; CN315801.
DR   MeSH; D001289.
//
ID   Au-Kline syndrome.
AC   DI-04555
AR   AUKS.
DE   A disorder characterized by intellectual disability, facial
DE   dysmorphism, cardiac defects, and connective tissue and skeletal
DE   abnormalities. Dysmorphic features include long palpebral fissures,
DE   ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open
DE   downturned mouth, ears with underdeveloped and thick helices, high
DE   palate, and a unique tongue with a prominent median crease. Hypotonia,
DE   hyporeflexia, and high pain tolerance are additional features.
SY   Au-Kline-Okamoto syndrome.
SY   Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation.
SY   Okamoto syndrome.
DR   MIM; 616580; phenotype.
DR   MedGen; CN233135.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Auditory neuropathy and optic atrophy.
AC   DI-05116
AR   ANOA.
DE   An autosomal recessive disease characterized by hearing loss, visual
DE   impairment and optic atrophy, with onset in the first or second
DE   decades of life. Optic atrophy is caused by degeneration of nerve
DE   fibers which arise in the retina and converge to form the optic disk,
DE   optic nerve, optic chiasm and optic tracts.
DR   MIM; 617717; phenotype.
DR   MedGen; CN533577.
DR   MeSH; D015418.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
//
ID   Auditory neuropathy, autosomal dominant 1.
AC   DI-03423
AR   AUNA1.
DE   A form of sensorineural hearing loss with absent or severely abnormal
DE   auditory brainstem response, in the presence of normal cochlear outer
DE   hair cell function and normal otoacoustic emissions. Auditory
DE   neuropathies result from a lesion in the area including the inner hair
DE   cells, connections between the inner hair cells and the cochlear
DE   branch of the auditory nerve, the auditory nerve itself and auditory
DE   pathways of the brainstem. Affected individuals typically respond to
DE   sound but have difficulties in speech discrimination.
SY   Nonsyndromic auditory neuropathy autosomal dominant.
SY   NSDAN.
DR   MIM; 609129; phenotype.
DR   MedGen; C1836743.
DR   MeSH; D006319.
KW   KW-0622:Neuropathy.
KW   KW-1010:Non-syndromic deafness.
//
ID   Auditory neuropathy, autosomal dominant 2.
AC   DI-06691
AR   AUNA2.
DE   A form of sensorineural hearing loss with absent or severely abnormal
DE   auditory brainstem response, in the presence of normal cochlear outer
DE   hair cell function and normal otoacoustic emissions. Auditory
DE   neuropathies result from a lesion in the area including the inner hair
DE   cells, connections between the inner hair cells and the cochlear
DE   branch of the auditory nerve, the auditory nerve itself and auditory
DE   pathways of the brainstem. Affected individuals typically respond to
DE   sound but have difficulties in speech discrimination. AUNA2 is
DE   characterized by postlingual onset of progressive bilateral
DE   sensorineural hearing loss in the second decade, leading to profound
DE   deafness in the fifth decade. The outer hair cell function is
DE   preserved initially but declines with age.
DR   MIM; 620384; phenotype.
DR   MedGen; CN371828.
DR   MeSH; D006319.
KW   KW-0622:Neuropathy.
KW   KW-1010:Non-syndromic deafness.
//
ID   Auditory neuropathy, autosomal dominant 3.
AC   DI-06395
AR   AUNA3.
DE   A form of sensorineural hearing loss with absent or severely abnormal
DE   auditory brainstem response, in the presence of normal cochlear outer
DE   hair cell function and normal otoacoustic emissions. Auditory
DE   neuropathies result from a lesion in the area including the inner hair
DE   cells, connections between the inner hair cells and the cochlear
DE   branch of the auditory nerve, the auditory nerve itself and auditory
DE   pathways of the brainstem. Affected individuals typically respond to
DE   sound but have difficulties in speech discrimination. AUNA3 is a late-
DE   onset, progressive form.
DR   MIM; 619832; phenotype.
DR   MedGen; CN308001.
DR   MeSH; D006319.
KW   KW-0622:Neuropathy.
KW   KW-1010:Non-syndromic deafness.
//
ID   Auditory neuropathy, autosomal recessive, 1.
AC   DI-02064
AR   AUNB1.
DE   A form of sensorineural hearing loss with absent or severely abnormal
DE   auditory brainstem response, in the presence of normal cochlear outer
DE   hair cell function and normal otoacoustic emissions. Auditory
DE   neuropathies result from a lesion in the area including the inner hair
DE   cells, connections between the inner hair cells and the cochlear
DE   branch of the auditory nerve, the auditory nerve itself and auditory
DE   pathways of the brainstem. In some cases AUNB1 phenotype can be
DE   temperature sensitive.
SY   Nonsyndromic auditory neuropathy autosomal recessive.
SY   NSRAN.
DR   MIM; 601071; phenotype.
DR   MedGen; C1832829.
DR   MedGen; C1832830.
DR   MeSH; D006319.
KW   KW-0622:Neuropathy.
KW   KW-1010:Non-syndromic deafness.
//
ID   Aural atresia, congenital.
AC   DI-03316
AR   CAA.
DE   A rare anomaly of the ear that involves some degree of failure of the
DE   development of the external auditory canal. The malformation can also
DE   involve the tympanic membrane, ossicles and middle ear space. The
DE   inner ear development is most often normal. Different CAA forms are
DE   known. CAA type I is characterized by bony or fibrous atresia of the
DE   lateral part of the external auditory canal and an almost normal
DE   medial part and middle ear. CAA type II is the most frequent type and
DE   is characterized by partial or total aplasia of the external auditory
DE   canal. CAA type IIA involves an external auditory canal with either
DE   complete bony atresia of the medial part or partial aplasia that ends
DE   blindly in a fistula leading to a rudimentary tympanic membrane. CAA
DE   type IIB is characterized by bony stenosis of the total length of the
DE   external auditory canal. CAA type III involves bony atresia of the
DE   external auditory canal and a very small or absent middle-ear cavity.
SY   Aural atresia, congenital, with hyposmia.
DR   MIM; 607842; phenotype.
DR   MedGen; C1842937.
DR   MeSH; D006314.
//
ID   Auriculocondylar syndrome 1.
AC   DI-03467
AR   ARCND1.
DE   An autosomal dominant form of auriculocondylar syndrome, a
DE   craniofacial malformation syndrome characterized by variable
DE   mandibular anomalies, including mild to severe micrognathia,
DE   temporomandibular joint ankylosis, cleft palate, and a characteristic
DE   ear malformation that consists of separation of the lobule from the
DE   external ear, giving the appearance of a question mark (question-mark
DE   ear). Other frequently described features include prominent cheeks,
DE   cupped and posteriorly rotated ears, preauricular tags, and
DE   microstomia. Glossoptosis, masticatory abnormalities, orthodontic
DE   problems, and malocclusion occur in a majority of affected subjects.
SY   ACS.
SY   Dysgnathia complex.
SY   Question mark ears syndrome.
DR   MIM; 602483; phenotype.
DR   MedGen; C1865295.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 2A.
AC   DI-03468
AR   ARCND2A.
DE   An autosomal dominant form of auriculocondylar syndrome, a
DE   craniofacial malformation syndrome characterized by variable
DE   mandibular anomalies, including mild to severe micrognathia,
DE   temporomandibular joint ankylosis, cleft palate, and a characteristic
DE   ear malformation that consists of separation of the lobule from the
DE   external ear, giving the appearance of a question mark (question-mark
DE   ear). Other frequently described features include prominent cheeks,
DE   cupped and posteriorly rotated ears, preauricular tags, and
DE   microstomia. Glossoptosis, masticatory abnormalities, orthodontic
DE   problems, and malocclusion occur in a majority of affected subjects.
DR   MIM; 614669; phenotype.
DR   MedGen; C3553404.
DR   MedGen; CN128706.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 2B.
AC   DI-06730
AR   ARCND2B.
DE   An autosomal recessive form of auriculocondylar syndrome, a
DE   craniofacial malformation syndrome characterized by variable
DE   mandibular anomalies, including mild to severe micrognathia,
DE   temporomandibular joint ankylosis, cleft palate, and a characteristic
DE   ear malformation that consists of separation of the lobule from the
DE   external ear, giving the appearance of a question mark (question-mark
DE   ear). Other frequently described features include prominent cheeks,
DE   cupped and posteriorly rotated ears, preauricular tags, and
DE   microstomia. Glossoptosis, masticatory abnormalities, orthodontic
DE   problems, and malocclusion occur in a majority of affected subjects.
DR   MIM; 620458; phenotype.
DR   MedGen; CN372443.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 3.
AC   DI-04052
AR   ARCND3.
DE   An autosomal recessive form of auriculocondylar syndrome, a
DE   craniofacial malformation syndrome characterized by variable
DE   mandibular anomalies, including mild to severe micrognathia,
DE   temporomandibular joint ankylosis, cleft palate, and a characteristic
DE   ear malformation that consists of separation of the lobule from the
DE   external ear, giving the appearance of a question mark (question-mark
DE   ear). Other frequently described features include prominent cheeks,
DE   cupped and posteriorly rotated ears, preauricular tags, and
DE   microstomia. Glossoptosis, masticatory abnormalities, orthodontic
DE   problems, and malocclusion occur in a majority of affected subjects.
DR   MIM; 615706; phenotype.
DR   MedGen; C3810332.
DR   MedGen; CN185375.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 4.
AC   DI-06729
AR   ARCND4.
DE   An autosomal dominant form of auriculocondylar syndrome, a
DE   craniofacial malformation syndrome characterized by variable
DE   mandibular anomalies, including mild to severe micrognathia,
DE   temporomandibular joint ankylosis, cleft palate, and a characteristic
DE   ear malformation that consists of separation of the lobule from the
DE   external ear, giving the appearance of a question mark (question-mark
DE   ear). Other frequently described features include prominent cheeks,
DE   cupped and posteriorly rotated ears, preauricular tags, and
DE   microstomia. Glossoptosis, masticatory abnormalities, orthodontic
DE   problems, and malocclusion occur in a majority of affected subjects.
DR   MIM; 620457; phenotype.
DR   MedGen; CN372444.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Autism 15.
AC   DI-02792
AR   AUTS15.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
DR   MIM; 612100; phenotype.
DR   MedGen; C2677504.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism 16.
AC   DI-02793
AR   AUTS16.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability. AUTS16 can be associated with epilepsy.
SY   Autism with or without seizures.
DR   MIM; 613410; phenotype.
DR   MedGen; C3150677.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism 17.
AC   DI-02794
AR   AUTS17.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
DR   MIM; 613436; phenotype.
DR   MedGen; C3150693.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism 19.
AC   DI-03649
AR   AUTS19.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
DR   MIM; 615091; phenotype.
DR   MedGen; C3554495.
DR   MedGen; CN165707.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism 20.
AC   DI-05821
AR   AUTS20.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability. The transmission pattern of AUTS20 is
DE   consistent with autosomal dominant inheritance.
DR   MIM; 618830; phenotype.
DR   MedGen; CN280925.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 1.
AC   DI-02431
AR   AUTSX1.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
SY   Asperger syndrome, X-linked, 1.
SY   ASPGX1.
DR   MIM; 300425; phenotype.
DR   MedGen; C1845540.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 2.
AC   DI-02432
AR   AUTSX2.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
SY   Asperger syndrome, X-linked, 2.
SY   ASPGX2.
SY   Intellectual developmental disorder, X-linked.
DR   MIM; 300495; phenotype.
DR   MedGen; C1845539.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 3.
AC   DI-02433
AR   AUTSX3.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
DR   MIM; 300496; phenotype.
DR   MedGen; C1845336.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 4.
AC   DI-04536
AR   AUTSX4.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
SY   Chromosome Xp22 deletion syndrome.
DR   MIM; 300830; phenotype.
DR   MedGen; C0795888.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 5.
AC   DI-03140
AR   AUTSX5.
DE   A complex multifactorial, pervasive developmental disorder
DE   characterized by impairments in reciprocal social interaction and
DE   communication, restricted and stereotyped patterns of interests and
DE   activities, and the presence of developmental abnormalities by 3 years
DE   of age. Most individuals with autism also manifest moderate
DE   intellectual disability.
DR   MIM; 300847; phenotype.
DR   MedGen; C3275438.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Autism, X-linked 6.
AC   DI-03482
AR   AUTSX6.
DE   A form of autism, a complex multifactorial, pervasive developmental
DE   disorder characterized by impairments in reciprocal social interaction
DE   and communication, restricted and stereotyped patterns of interests
DE   and activities, and the presence of developmental abnormalities by 3
DE   years of age. Most individuals with autism also manifest moderate
DE   intellectual disability. AUTSX6 patients may respond favorably to
DE   carnitine supplementation.
SY   Epsilon-trimethyllysine hydroxylase deficiency.
SY   TMLHED.
DR   MIM; 300872; phenotype.
DR   MedGen; C3550875.
DR   MedGen; CN130016.
DR   MeSH; D001321.
DR   MeSH; D008661.
KW   KW-1269:Autism.
//
ID   Autoimmune disease 1.
AC   DI-02737
AR   AIS1.
DE   An autoimmune disorder characterized by the association of vitiligo
DE   with autoimmune thyroiditis (Hashimoto thyroiditis).
SY   Autoimmune disease susceptibility 1.
SY   Autoimmune disease susceptibility locus chromosome 1p-related.
SY   VAMAS2.
SY   Vitiligo-associated multiple autoimmune disease susceptibility 2.
SY   Vitiligo-associated multiple autoimmune disease type 2.
DR   MIM; 607836; phenotype.
DR   MedGen; C1842979.
DR   MeSH; D001327.
//
ID   Autoimmune disease 6.
AC   DI-02927
AR   AIS6.
DE   Individuals manifesting susceptibility to autoimmune disease type 6
DE   can suffer from juvenile idiopathic arthritis, rheumatoid arthritis,
DE   multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus,
DE   type 1 diabetes, ulcerative colitis, and Crohn disease.
SY   Autoimmune disease susceptibility 6.
DR   MIM; 613551; phenotype.
DR   MedGen; C3150797.
DR   MeSH; D001327.
//
ID   Autoimmune disease, multisystem, infantile-onset, 1.
AC   DI-04194
AR   ADMIO1.
DE   A disorder characterized by early childhood onset of a spectrum of
DE   autoimmune manifestations affecting multiple organs, including
DE   insulin-dependent diabetes mellitus and autoimmune enteropathy or
DE   celiac disease. Other features include short stature, non-specific
DE   dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.
DR   MIM; 615952; phenotype.
DR   MedGen; CN207828.
DR   MeSH; D001327.
KW   KW-0219:Diabetes mellitus.
KW   KW-0242:Dwarfism.
//
ID   Autoimmune disease, multisystem, infantile-onset, 2.
AC   DI-04749
AR   ADMIO2.
DE   An autosomal recessive, autoimmune disorder characterized by systemic
DE   manifestations including blistering skin disease, uncontrollable
DE   bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism,
DE   proteinuria and nephrotic syndrome.
DR   MIM; 617006; phenotype.
DR   MedGen; CN236826.
DR   MeSH; D001327.
//
ID   Autoimmune disease, multisystem, infantile-onset, 3.
AC   DI-06710
AR   ADMIO3.
DE   An autosomal recessive disorder characterized by autoimmune
DE   manifestations apparent in the first months or years of life. Clinical
DE   features may include hypothyroidism, type 1 diabetes mellitus,
DE   systemic inflammatory manifestations such as fever and hepatomegaly,
DE   and autoimmune cytopenias.
SY   CBLB deficiency.
DR   MIM; 620430; phenotype.
DR   MedGen; CN372248.
DR   MeSH; D001327.
//
ID   Autoimmune disease, multisystem, with facial dysmorphism.
AC   DI-02639
AR   ADMFD.
DE   A disorder characterized by organomegaly, failure to thrive,
DE   developmental delay, dysmorphic features and autoimmune inflammatory
DE   cell infiltration of the lungs, liver and gut.
SY   Syndromic multisystem autoimmune disease.
DR   MIM; 613385; phenotype.
DR   MedGen; C3150649.
DR   MeSH; D001327.
//
ID   Autoimmune interstitial lung, joint, and kidney disease.
AC   DI-04454
AR   AILJK.
DE   An autoimmune disease characterized by inflammatory arthritis,
DE   interstitial lung disease, and immune complex-mediated renal disease.
DR   MIM; 616414; phenotype.
DR   MedGen; C0231330.
DR   MeSH; D001327.
//
ID   Autoimmune lymphoproliferative syndrome 1A.
AC   DI-00155
AR   ALPS1A.
DE   A disorder of apoptosis that manifests in early childhood and results
DE   in the accumulation of autoreactive lymphocytes. It is characterized
DE   by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE   autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY   Autoimmune lymphoproliferative syndrome type IA.
SY   Canale-Smith syndrome.
SY   CSS.
DR   MIM; 601859; phenotype.
DR   MedGen; C1866119.
DR   MedGen; C1866121.
DR   MeSH; D056735.
//
ID   Autoimmune lymphoproliferative syndrome 1B.
AC   DI-00156
AR   ALPS1B.
DE   A disorder of apoptosis that manifests in early childhood and results
DE   in the accumulation of autoreactive lymphocytes. It is characterized
DE   by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE   autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY   Autoimmune lymphoproliferative syndrome type IB.
SY   Canale-Smith syndrome.
SY   CSS.
DR   MIM; 601859; phenotype.
DR   MedGen; C1866120.
DR   MedGen; C1866121.
DR   MeSH; D056735.
//
ID   Autoimmune lymphoproliferative syndrome 2A.
AC   DI-00157
AR   ALPS2A.
DE   A disorder of apoptosis that manifests in early childhood and results
DE   in the accumulation of autoreactive lymphocytes. It is characterized
DE   by non-malignant lymphadenopathy with hepatosplenomegaly, and
DE   autoimmune hemolytic anemia, thrombocytopenia and neutropenia.
SY   ALPS2.
SY   Autoimmune lymphoproliferative syndrome, type II.
SY   Autoimmune lymphoproliferative syndrome type IIA.
DR   MIM; 603909; phenotype.
DR   MedGen; C1858968.
DR   MeSH; D056735.
//
ID   Autoimmune lymphoproliferative syndrome 3.
AC   DI-03976
AR   ALPS3.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low. CVID9 patients have B-cell deficiency
DE   and severe autoimmunity.
SY   Autoimmune lymphoproliferative syndrome, type III.
SY   CVID9.
SY   Immunodeficiency, common variable, 9.
DR   MIM; 615559; phenotype.
DR   MedGen; CN182401.
DR   MeSH; D017074.
//
ID   Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia.
AC   DI-01198
AR   APS1.
DE   A rare disease characterized by the combination of chronic
DE   mucocutaneous candidiasis, hypoparathyroidism and Addison disease.
DE   Symptoms of mucocutaneous candidiasis manifest first, followed by
DE   hypotension or fatigue occurring as a result of Addison disease. APS1
DE   is associated with other autoimmune disorders including diabetes
DE   mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary
DE   hypothyroidism.
SY   APECED.
SY   APS-1.
SY   Autoimmune polyendocrine syndrome type I.
SY   Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
SY   Autoimmune polyendocrinopathy syndrome type I.
SY   Autosomal dominant autoimmune polyendocrinopathy syndrome type I.
SY   Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis.
SY   PGA I.
SY   Polyglandular autoimmune syndrome type I.
SY   Polyglandular deficiency syndrome Persian-Jewish type.
SY   Whitaker syndrome.
DR   MIM; 240300; phenotype.
DR   MedGen; C0085859.
DR   MedGen; C1855868.
DR   MedGen; C1855869.
DR   MedGen; C2749602.
DR   MedGen; CN068638.
DR   MeSH; D016884.
//
ID   Autoimmune thyroid disease 3.
AC   DI-02878
AR   AITD3.
DE   A complex autoimmune disorder comprising two related diseases
DE   affecting the thyroid: Graves disease and Hashimoto thyroiditis. In
DE   both disorders, thyroid-reactive T-cells are formed and infiltrate the
DE   thyroid gland. In Graves disease, the majority of the T-cells undergo
DE   a Th2 differentiation and activate B-cells to produce antibodies
DE   against the TSH receptor, which stimulate the thyroid and cause
DE   clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is
DE   characterized by Th1 switching of the thyroid-infiltrating T-cells,
DE   which induces apoptosis of thyroid follicular cells and clinical
DE   hypothyroidism.
DR   MIM; 608175; phenotype.
DR   MedGen; C1842444.
DR   MeSH; D006111.
DR   MeSH; D013959.
DR   MeSH; D013967.
//
ID   Autoinflammation with arthritis and dyskeratosis.
AC   DI-04967
AR   AIADK.
DE   A disorder characterized by recurrent fever, diffuse skin
DE   dyskeratosis, autoinflammation, autoimmunity, arthritis and high
DE   transitional B-cell level. Inheritance can be autosomal dominant or
DE   autosomal recessive.
DR   MIM; 617388; phenotype.
DR   MedGen; CN240904.
DR   MeSH; D012873.
DR   MeSH; D056660.
//
ID   Autoinflammation with episodic fever and lymphadenopathy.
AC   DI-05817
AR   AIEFL.
DE   An autosomal dominant immunologic disorder characterized by early
DE   onset of recurrent episodes of unexplained fever, lymphadenopathy,
DE   hepatosplenomegaly, and increased levels of inflammatory cytokines and
DE   chemokines in patient serum.
SY   Cleavage-resistant RIPK1-induced autoinflammatory syndrome.
SY   CRIA syndrome.
DR   MIM; 618852; phenotype.
DR   MedGen; CN280858.
DR   MeSH; D056660.
//
ID   Autoinflammation with infantile enterocolitis.
AC   DI-04246
AR   AIFEC.
DE   An autosomal dominant disorder characterized by neonatal-onset
DE   enterocolitis, periodic fever, and fatal or near-fatal episodes of
DE   autoinflammation. Affected individuals tend to have poor overall
DE   growth and gastrointestinal symptoms in infancy, recurrent febrile
DE   episodes with splenomegaly, and sometimes hematologic disturbances,
DE   arthralgias, or myalgias.
DR   MIM; 616050; phenotype.
DR   MedGen; CN220130.
DR   MeSH; D004760.
DR   MeSH; D056660.
//
ID   Autoinflammation with pulmonary and cutaneous vasculitis.
AC   DI-06633
AR   AIPCV.
DE   An autosomal dominant disorder characterized by cutaneous vasculitis
DE   and chronic pulmonary inflammation that evolves to fibrosis. AIPCV
DE   manifests soon after birth with petechial skin lesions, followed by
DE   progressive pulmonary involvement causing restrictive lung disease and
DE   respiratory insufficiency.
DR   MIM; 620296; phenotype.
DR   MedGen; CN323730.
DR   MeSH; D056660.
//
ID   Autoinflammation, antibody deficiency, and immune dysregulation.
AC   DI-03601
AR   APLAID.
DE   An autosomal dominant systemic disorder characterized by recurrent
DE   blistering skin lesions with a dense inflammatory infiltrate and
DE   variable involvement of other tissues, including joints, the eye, and
DE   the gastrointestinal tract. Affected individuals have a mild humoral
DE   immune deficiency associated with recurrent sinopulmonary infections,
DE   but no evidence of circulating autoantibodies.
DR   MIM; 614878; phenotype.
DR   MedGen; C3553961.
DR   MedGen; CN158804.
DR   MeSH; D007153.
//
ID   Autoinflammation, immune dysregulation, and eosinophilia.
AC   DI-05905
AR   AIIDE.
DE   An autosomal dominant disorder characterized by immune dysregulation,
DE   severe atopic dermatitis, and chronic gastrointestinal inflammation.
DE   Additional features include asthma, food or environmental allergies,
DE   as well as poor overall growth with short stature.
SY   Atopic dermatitis, enteritis, colitis, and eosinophilia.
DR   MIM; 618999; phenotype.
DR   MedGen; CN283344.
DR   MeSH; D005759.
DR   MeSH; D056660.
//
ID   Autoinflammation, panniculitis, and dermatosis syndrome.
AC   DI-04791
AR   AIPDS.
DE   An autosomal recessive autoinflammatory disorder characterized by
DE   neonatal-onset of fever, neutrophilic dermatitis, panniculitis,
DE   painful joints, failure to thrive. Patients do not exhibit overt
DE   primary immunodeficiency.
SY   ORAS.
SY   Otulin-related autoinflammatory syndrome.
SY   Otulipenia.
DR   MIM; 617099; phenotype.
DR   MedGen; CN238359.
DR   MeSH; D003872.
DR   MeSH; D015434.
DR   MeSH; D056660.
//
ID   Autoinflammatory disease, familial, Behcet-like 3.
AC   DI-05466
AR   AIFBL3.
DE   An autosomal dominant, mucocutaneous disease characterized by chronic
DE   mucosal lesions, in absence of recurrent infections.
SY   CMCU.
SY   Mucocutaneous ulceration, chronic.
DR   MIM; 618287; phenotype.
DR   MedGen; CN258147.
DR   MeSH; D012883.
//
ID   Autoinflammatory disease, multisystem, with immune dysregulation, X-linked.
AC   DI-06712
AR   ADMIDX.
DE   An X-linked recessive disorder apparent in infancy or early childhood,
DE   and characterized by immune dysregulation, variable cytopenias, and
DE   systemic or organ-specific autoinflammatory manifestations. Clinical
DE   features include systemic lupus erythematosus, panniculitis,
DE   inflammatory bowel disease, pulmonary disease, or arthritis associated
DE   with recurrent fever, leukocytosis, lymphoproliferation, and
DE   hepatosplenomegaly in the absence of an infectious agent. Death in
DE   childhood has been reported.
SY   DOCK11 deficiency.
DR   MIM; 301109; phenotype.
DR   MedGen; CN372269.
DR   MeSH; D001327.
//
ID   Autoinflammatory disease, systemic, with vasculitis.
AC   DI-06688
AR   SAIDV.
DE   An autosomal dominant disorder characterized by systemic
DE   autoinflammation manifesting in the first hours of life with diffuse
DE   purpuric skin lesions, fever, hepatosplenomegaly, and increased C-
DE   reactive protein. Additional clinical features include periorbital
DE   edema, conjunctivitis, urticaria, atopic dermatitis, abdominal pain,
DE   and arthralgia. Laboratory studies may show leukocytosis,
DE   thrombocytopenia, and autoantibodies.
SY   LAVLI syndrome.
DR   MIM; 620376; phenotype.
DR   MedGen; CN327139.
DR   MeSH; D056660.
//
ID   Autoinflammatory disease, systemic, X-linked.
AC   DI-06411
AR   SAIDX.
DE   An X-linked disorder characterized by systemic autoinflammation
DE   appearing in the first months of life. Clinical manifestations are
DE   variable, including lymphadenopathy, hepatosplenomegaly, fever,
DE   panniculitis, and nodular skin rash. Additional features may include
DE   inflammation of the optic nerve, intracranial hemorrhage, and
DE   lipodystrophy.
DR   MIM; 301081; phenotype.
DR   MedGen; CN312438.
DR   MeSH; D056660.
//
ID   Autoinflammatory syndrome, familial, Behcet-like 1.
AC   DI-04635
AR   AIFBL1.
DE   An autosomal dominant, autoinflammatory disorder with early onset,
DE   characterized by ulceration of mucosal surfaces, particularly in the
DE   oral and genital areas. Additional variable features include skin
DE   rash, uveitis, and polyarthritis.
DR   MIM; 616744; phenotype.
DR   MedGen; CN234876.
DR   MeSH; D056660.
//
ID   Autoinflammatory syndrome, familial, with or without immunodeficiency.
AC   DI-06141
AR   AISIMD.
DE   An autosomal dominant, autoinflammatory disorder with incomplete
DE   penetrance characterized by autoimmune cytopenia, hemolytic anemia,
DE   thrombocytopenia, and lymphadenopathy. Additional variable features
DE   may include autoimmune thyroiditis, psoriasis or eczema, nephritis,
DE   hepatitis, and symptoms of systemic lupus erythematosus.
DE   Immunodeficiency is present in some patients. Disease onset is usually
DE   in the first decades of life, although later onset has been reported.
DR   MIM; 619375; phenotype.
DR   MedGen; CN297552.
DR   MeSH; D056660.
//
ID   Autoinflammatory syndrome, familial, X-linked, Behcet-like 2.
AC   DI-06377
AR   AIFBL2.
DE   An X-linked recessive, autoinflammatory disorder characterized by
DE   ulceration of the oral mucosa and skin inflammation. Additional
DE   variable features may include gastrointestinal ulceration, arthritis,
DE   recurrent fevers, and iron deficiency anemia. Disease onset is in
DE   early childhood.
SY   Deficiency in ELF4, X-linked.
SY   DEX.
DR   MIM; 301074; phenotype.
DR   MedGen; CN307999.
DR   MeSH; D056660.
//
ID   Autoinflammatory-pancytopenia syndrome.
AC   DI-06407
AR   AIPCS.
DE   An autosomal recessive disorder characterized by severe anemia and
DE   thrombocytopenia apparent from early infancy, hepatosplenomegaly, and
DE   recurrent fevers associated with a hyperinflammatory state. Additional
DE   systemic features may include chronic diarrhea, proteinuria with renal
DE   disease, liver fibrosis with elevated liver enzymes, deforming
DE   arthropathy, and vasculitic skin lesions. Some patients may have motor
DE   delay or learning difficulties associated with subcortical white
DE   matter lesions on brain imaging.
DR   MIM; 619858; phenotype.
DR   MedGen; CN312016.
DR   MeSH; D007249.
DR   MeSH; D010198.
//
ID   Avascular necrosis of femoral head, primary, 1.
AC   DI-02197
AR   ANFH1.
DE   A disease characterized by mechanical failure of the subchondral bone,
DE   and degeneration of the hip joint. It usually leads to destruction of
DE   the hip joint in the third to fifth decade of life. The clinical
DE   manifestations, such as pain on exertion, a limping gait, and a
DE   discrepancy in leg length, cause considerable disability. ANFH1
DE   inheritance is autosomal dominant.
SY   Aseptic necrosis of femoral head.
SY   Avascular necrosis of femoral head.
SY   Ischemic necrosis of femoral head.
SY   Osteonecrosis of femoral head.
DR   MIM; 608805; phenotype.
DR   MedGen; C0410480.
DR   MeSH; D005271.
//
ID   Avascular necrosis of the femoral head, primary 2.
AC   DI-04965
AR   ANFH2.
DE   A disease characterized by mechanical failure of the subchondral bone,
DE   and degeneration of the hip joint. It usually leads to destruction of
DE   the hip joint in the third to fifth decade of life. The clinical
DE   manifestations, such as pain on exertion, a limping gait, and a
DE   discrepancy in leg length, cause considerable disability.
DR   MIM; 617383; phenotype.
DR   MedGen; CN240839.
DR   MeSH; D005271.
//
ID   Axenfeld-Rieger syndrome 1.
AC   DI-01265
AR   RIEG1.
DE   An autosomal dominant disorder of morphogenesis that results in
DE   abnormal development of the anterior segment of the eye, and results
DE   in blindness from glaucoma in approximately 50% of affected
DE   individuals. Additional features include aniridia, maxillary
DE   hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
SY   Iridogoniodysgenesis with somatic anomalies.
SY   RGS.
SY   RIEG.
SY   Rieger syndrome type 1.
DR   MIM; 180500; phenotype.
DR   MedGen; C3495488.
DR   MedGen; CN029264.
DR   MeSH; D005124.
//
ID   Axenfeld-Rieger syndrome 3.
AC   DI-01266
AR   RIEG3.
DE   An autosomal dominant disorder of morphogenesis that results in
DE   abnormal development of the anterior segment of the eye, and results
DE   in blindness from glaucoma in approximately 50% of affected
DE   individuals. Features include posterior corneal embryotoxon, prominent
DE   Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism,
DE   hypodontia, sensorineural deafness, redundant periumbilical skin, and
DE   cardiovascular defects such as patent ductus arteriosus and atrial
DE   septal defect. When associated with tooth anomalies, the disorder is
DE   known as Rieger syndrome.
SY   Anterior chamber cleavage syndrome.
SY   Anterior segment mesenchymal dysgenesis.
SY   Axenfeld anomaly.
SY   Axenfeld-Rieger anomaly.
SY   Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss.
SY   Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss.
SY   Rieger anomaly.
SY   Rieger syndrome type 3.
DR   MIM; 602482; phenotype.
DR   MedGen; C0266548.
DR   MedGen; C2676985.
DR   MedGen; C2678503.
DR   MeSH; D005124.
DR   MeSH; D006319.
DR   MeSH; D006330.
KW   KW-0209:Deafness.
//
ID   Ayme-Gripp syndrome.
AC   DI-04468
AR   AYGRP.
DE   A multisystem disorder characterized by congenital cataracts,
DE   sensorineural deafness, intellectual disability, seizures,
DE   brachycephaly, distinctive flat facial appearance, skeletal anomalies,
DE   mammary gland hypoplasia, and reduced growth.
DR   MIM; 601088; phenotype.
DR   MedGen; C1832812.
DR   MeSH; D002386.
DR   MeSH; D006130.
DR   MeSH; D006319.
DR   MeSH; D008607.
DR   MeSH; D019066.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Azoospermia, obstructive, with nephrolithiasis.
AC   DI-06054
AR   OAZON.
DE   An X-linked recessive, male infertility disorder characterized by
DE   epidydimal obstruction, hypercalciuria and kidney stones.
DR   MIM; 301060; phenotype.
DR   MedGen; CN295913.
DR   MeSH; D007248.
DR   MeSH; D053040.
//
ID   B-cell expansion with NFKB and T-cell anergy.
AC   DI-04476
AR   BENTA.
DE   An autosomal dominant condition characterized by onset in infancy of
DE   splenomegaly and polyclonal expansion of B cells, resulting in
DE   peripheral lymphocytosis. Affected individuals also show mild immune
DE   dysfunction, including some defective antibody responses and T-cell
DE   anergy. There may be a predisposition to the development of B-cell
DE   malignancy.
DR   MIM; 616452; phenotype.
DR   MedGen; CN231446.
DR   MeSH; D008218.
//
ID   B-cell immunodeficiency, distal limb anomalies, and urogenital malformations.
AC   DI-06278
AR   BILU.
DE   An autosomal dominant disorder characterized by humoral
DE   immunodeficiency with undetectable B cells, distal limb anomalies,
DE   dysmorphic facial features, and urogenital malformations.
SY   BILU syndrome.
SY   Hoffman syndrome.
DR   MIM; 609296; phenotype.
DR   MedGen; C1836437.
DR   MeSH; D000015.
DR   MeSH; D007153.
//
ID   Bachmann-Bupp syndrome.
AC   DI-05945
AR   BABS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, alopecia, absolute or relative macrocephaly, and facial
DE   dysmorphism. Neuroimaging shows white matter abnormalities, prominent
DE   Virchow-Robin spaces, periventricular cysts, and abnormalities of the
DE   corpus callosum.
SY   NEDABA.
SY   Neurodevelopmental disorder with alopecia and brain abnormalities.
DR   MIM; 619075; phenotype.
DR   MedGen; CN295154.
DR   MeSH; D065886.
KW   KW-1063:Hypotrichosis.
//
ID   Bainbridge-Ropers syndrome.
AC   DI-03920
AR   BRPS.
DE   A syndrome characterized by psychomotor retardation, feeding problems,
DE   severe postnatal growth retardation in some patients, arched eyebrows,
DE   anteverted nares, and ulnar deviation of the hands.
DR   MIM; 615485; phenotype.
DR   MedGen; C3809650.
DR   MedGen; CN180235.
DR   MeSH; D000015.
//
ID   Baker-Gordon syndrome.
AC   DI-05432
AR   BAGOS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   infantile hypotonia, congenital ophthalmic abnormalities, involuntary
DE   and hyperkinetic movements, stereotypic behavior, poor or absent
DE   speech, EEG abnormalities, and global developmental delay varying in
DE   severity from moderate to profound. Behavioral characteristics include
DE   sleep disturbance and episodic agitation.
SY   NEDIMAE.
SY   Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram.
DR   MIM; 618218; phenotype.
DR   MedGen; CN257498.
DR   MeSH; D065886.
//
ID   Baller-Gerold syndrome.
AC   DI-00158
AR   BGS.
DE   An autosomal recessive syndrome characterized by short stature,
DE   craniosynostosis, absent or hypoplastic radii, short and curved ulna,
DE   fused carpal bones and absent carpals, metacarpals and phalanges. Some
DE   patients manifest poikiloderma. Cases reported as Baller-Gerold
DE   syndrome have phenotypic overlap with several other disorders,
DE   including Saethre-Chotzen syndrome.
SY   Craniosynostosis-radial aplasia syndrome.
SY   Craniosynostosis with radial defects.
DR   MIM; 218600; phenotype.
DR   MedGen; C0265308.
DR   MeSH; D003398.
KW   KW-0242:Dwarfism.
KW   KW-0989:Craniosynostosis.
//
ID   Bamforth-Lazarus syndrome.
AC   DI-01267
AR   BAMLAZ.
DE   An autosomal recessive disease characterized by congenital
DE   hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft
DE   palate, spiky hair, with or without choanal atresia, and bifid
DE   epiglottis.
SY   Athyroidal hypothyroidism with spiky hair and cleft palate.
DR   MIM; 241850; phenotype.
DR   MedGen; C1855794.
DR   MedGen; C1968699.
DR   MeSH; D002972.
DR   MeSH; D006201.
DR   MeSH; D007037.
//
ID   Band heterotopia.
AC   DI-04829
AR   BH.
DE   A brain malformation of the lissencephaly spectrum, resulting from
DE   disordered neuronal migration and characterized by bands of gray
DE   matter interposed in the central white matter. Disease features
DE   include severe developmental delay with intellectual disability,
DE   enlarged head circumference, periventricular and ribbon-like
DE   subcortical heterotopia, polymicrogyria and agenesis of the corpus
DE   callosum.
SY   Band heterotopia of brain.
DR   MIM; 600348; phenotype.
DR   MedGen; C1838239.
DR   MeSH; D054221.
KW   KW-0451:Lissencephaly.
//
ID   Baraitser-Winter syndrome 1.
AC   DI-03416
AR   BRWS1.
DE   A rare developmental disorder characterized by the combination of
DE   congenital ptosis, high-arched eyebrows, hypertelorism, ocular
DE   colobomata, and a brain malformation consisting of anterior-
DE   predominant lissencephaly. Other typical features include postnatal
DE   short stature and microcephaly, intellectual disability, seizures, and
DE   hearing loss.
SY   Cerebrofrontofacial syndrome.
SY   Cerebrooculofacial lymphatic syndrome.
SY   Chromosome 7p22 deletion syndrome.
SY   COFLS.
SY   Fryns-Aftimos syndrome.
DR   MIM; 243310; phenotype.
DR   MedGen; C1855722.
DR   MeSH; D001763.
DR   MeSH; D003103.
DR   MeSH; D006972.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Baraitser-Winter syndrome 2.
AC   DI-03417
AR   BRWS2.
DE   A rare developmental disorder characterized by the combination of
DE   congenital ptosis, high-arched eyebrows, hypertelorism, ocular
DE   colobomata, and a brain malformation consisting of anterior-
DE   predominant lissencephaly. Other typical features include postnatal
DE   short stature and microcephaly, intellectual disability, seizures, and
DE   hearing loss.
DR   MIM; 614583; phenotype.
DR   MedGen; C3281235.
DR   MeSH; D001763.
DR   MeSH; D003103.
DR   MeSH; D006972.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Baralle-Macken syndrome.
AC   DI-06071
AR   BARMACS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, poor or absent speech, and
DE   difficulty walking or inability to walk. Affected individuals have
DE   early-onset cataracts. Additional variable features are microcephaly,
DE   facial dysmorphism, metabolic abnormalities, spasticity, and
DE   lymphopenia.
SY   Neurodevelopmental disorder with cataracts and variable microcephaly.
DR   MIM; 619255; phenotype.
DR   MedGen; CN296196.
DR   MeSH; D065886.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Barber-Say syndrome.
AC   DI-04543
AR   BBRSAY.
DE   A rare ectodermal dysplasia characterized by ectropion, macrostomia,
DE   ear abnormalities, broad nasal bridge, bulbous nose, redundant skin,
DE   hypertrichosis, dental abnormalities, and variable other features.
SY   BSS.
SY   Hypertrichosis, atrophic skin, ectropion, and macrostomia.
DR   MIM; 209885; phenotype.
DR   MedGen; C1319466.
DR   MeSH; D005141.
DR   MeSH; D006983.
DR   MeSH; D008265.
DR   MeSH; D012868.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Bardet-Biedl syndrome.
AC   DI-03107
AR   BBS.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
SY   Laurence-Moon-Bardet-Biedl Syndrome.
DR   MIM; 209900; phenotype.
DR   MedGen; C0752166.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 1.
AC   DI-00159
AR   BBS1.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
DR   MedGen; C2936862.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 10.
AC   DI-00168
AR   BBS10.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615987; phenotype.
DR   MedGen; C1859568.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 11.
AC   DI-00169
AR   BBS11.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615988; phenotype.
DR   MedGen; C1859569.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 12.
AC   DI-01269
AR   BBS12.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615989; phenotype.
DR   MedGen; C1859570.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 13.
AC   DI-03087
AR   BBS13.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615990; phenotype.
DR   MedGen; C2673873.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 14.
AC   DI-02607
AR   BBS14.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615991; phenotype.
DR   MedGen; C2673874.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 15.
AC   DI-02938
AR   BBS15.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615992; phenotype.
DR   MedGen; C3150127.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 16.
AC   DI-04258
AR   BBS16.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615993; phenotype.
DR   MedGen; CN120370.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 17.
AC   DI-04076
AR   BBS17.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615994; phenotype.
DR   MedGen; C3714980.
DR   MedGen; CN220306.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 18.
AC   DI-04077
AR   BBS18.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615995; phenotype.
DR   MedGen; C3806174.
DR   MedGen; CN186038.
DR   MedGen; CN220295.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 19.
AC   DI-04162
AR   BBS19.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615996; phenotype.
DR   MedGen; CN220296.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 2.
AC   DI-00160
AR   BBS2.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615981; phenotype.
DR   MedGen; C2936863.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 20.
AC   DI-06190
AR   BBS20.
DE   A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE   severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE   hypogenitalism, renal malformation and intellectual disability.
DE   Secondary features include diabetes mellitus, hypertension and
DE   congenital heart disease. Bardet-Biedl syndrome inheritance is
DE   autosomal recessive, but three mutated alleles (two at one locus, and
DE   a third at a second locus) may be required for clinical manifestation
DE   of some forms of the disease.
DR   MIM; 619471; phenotype.
DR   MedGen; C4310707.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 21.
AC   DI-04960
AR   BBS21.
DE   A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE   severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE   hypogenitalism, renal malformation and intellectual disability.
DE   Secondary features include diabetes mellitus, hypertension and
DE   congenital heart disease. Bardet-Biedl syndrome inheritance is
DE   autosomal recessive, but three mutated alleles (two at one locus, and
DE   a third at a second locus) may be required for clinical manifestation
DE   of some forms of the disease.
DR   MIM; 617406; phenotype.
DR   MedGen; CN241836.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 22.
AC   DI-04830
AR   BBS22.
DE   A form of Bardet-Biedl syndrome, a syndrome characterized by usually
DE   severe pigmentary retinopathy, early-onset obesity, polydactyly,
DE   hypogenitalism, renal malformation and intellectual disability.
DE   Secondary features include diabetes mellitus, hypertension and
DE   congenital heart disease. Bardet-Biedl syndrome inheritance is
DE   autosomal recessive, but three mutated alleles (two at one locus, and
DE   a third at a second locus) may be required for clinical manifestation
DE   of some forms of the disease.
DR   MIM; 617119; phenotype.
DR   MedGen; CN238500.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 3.
AC   DI-00161
AR   BBS3.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 600151; phenotype.
DR   MedGen; C1859564.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 4.
AC   DI-00162
AR   BBS4.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615982; phenotype.
DR   MedGen; C2936864.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 5.
AC   DI-00163
AR   BBS5.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615983; phenotype.
DR   MedGen; CN043026.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 6.
AC   DI-00164
AR   BBS6.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 605231; phenotype.
DR   MedGen; C1858054.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 7.
AC   DI-00165
AR   BBS7.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615984; phenotype.
DR   MedGen; C1859565.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 8.
AC   DI-00166
AR   BBS8.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615985; phenotype.
DR   MedGen; C1859566.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bardet-Biedl syndrome 9.
AC   DI-00167
AR   BBS9.
DE   A syndrome characterized by usually severe pigmentary retinopathy,
DE   early-onset obesity, polydactyly, hypogenitalism, renal malformation
DE   and intellectual disability. Secondary features include diabetes
DE   mellitus, hypertension and congenital heart disease. Bardet-Biedl
DE   syndrome inheritance is autosomal recessive, but three mutated alleles
DE   (two at one locus, and a third at a second locus) may be required for
DE   clinical manifestation of some forms of the disease.
DR   MIM; 615986; phenotype.
DR   MedGen; C1859567.
DR   MeSH; D020788.
KW   KW-0083:Bardet-Biedl syndrome.
KW   KW-0550:Obesity.
//
ID   Bare lymphocyte syndrome 1.
AC   DI-00170
AR   BLS1.
DE   A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2
DE   and type 3, which are characterized by early-onset severe combined
DE   immunodeficiency, class I antigen deficiencies are not accompanied by
DE   particular pathologic manifestations during the first years of life.
DE   Systemic infections have not been described. Chronic bacterial
DE   infections, often beginning in the first decade of life, are
DE   restricted to the respiratory tract.
SY   BLS I.
SY   BLS type I.
SY   HLA class I deficiency.
DR   MIM; 604571; phenotype.
DR   MedGen; C1858266.
DR   MeSH; D007153.
//
ID   Bare lymphocyte syndrome 2.
AC   DI-00171
AR   BLS2.
DE   A severe combined immunodeficiency disease with early onset. It is
DE   characterized by a profound defect in constitutive and interferon-
DE   gamma induced MHC II expression, absence of cellular and humoral T-
DE   cell response to antigen challenge, hypogammaglobulinemia and impaired
DE   antibody production. The consequence include extreme susceptibility to
DE   viral, bacterial and fungal infections.
SY   Bare lymphocyte syndrome type II.
SY   Bare lymphocyte syndrome type II complementation group A.
SY   Bare lymphocyte syndrome type II complementation group B.
SY   Bare lymphocyte syndrome type II complementation group C.
SY   Bare lymphocyte syndrome type II complementation group D.
SY   Bare lymphocyte syndrome type II complementation group E.
SY   BLS II.
SY   BLS type II.
SY   Hereditary MHC class II deficiency.
SY   HLA class II deficient combined immunodeficiency.
SY   Major histocompatibility complex class II deficiency.
SY   MHC-II deficiency.
SY   SCID HLA class II-negative.
SY   Severe combined immunodeficiency HLA class II-negative.
DR   MIM; 209920; phenotype.
DR   MedGen; C0242583.
DR   MedGen; C1859534.
DR   MedGen; C1859535.
DR   MedGen; C1859536.
DR   MedGen; C1859537.
DR   MedGen; C1859538.
DR   MedGen; C2931418.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Barrett esophagus.
AC   DI-03276
AR   BE.
DE   A condition characterized by a metaplastic change in which normal
DE   esophageal squamous epithelium is replaced by a columnar and
DE   intestinal-type epithelium. Patients with Barrett esophagus have an
DE   increased risk of esophageal adenocarcinoma. The main cause of Barrett
DE   esophagus is gastroesophageal reflux. The retrograde movement of acid
DE   and bile salts from the stomach into the esophagus causes prolonged
DE   injury to the esophageal epithelium and induces chronic esophagitis,
DE   which in turn is believed to trigger the pathologic changes.
SY   Barrett metaplasia.
DR   MIM; 614266; phenotype.
DR   MedGen; C0004763.
DR   MedGen; C0279628.
DR   MeSH; D001471.
//
ID   Bart-Pumphrey syndrome.
AC   DI-00172
AR   BAPS.
DE   An autosomal dominant disorder characterized by sensorineural hearing
DE   loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It
DE   shows considerable phenotypic variability.
SY   Knuckle pads, leukonychia, and sensorineural deafness.
DR   MIM; 149200; phenotype.
DR   MedGen; C0266004.
DR   MeSH; D006319.
DR   MeSH; D007645.
KW   KW-0209:Deafness.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Barth syndrome.
AC   DI-00005
AR   BTHS.
DE   An X-linked disease characterized by dilated cardiomyopathy with
DE   endocardial fibroelastosis, a predominantly proximal skeletal
DE   myopathy, growth retardation, neutropenia, and organic aciduria,
DE   particularly excess of 3-methylglutaconic acid. Additional features
DE   include hypertrophic cardiomyopathy, isolated left ventricular non-
DE   compaction, ventricular arrhythmia, motor delay, poor appetite,
DE   fatigue and exercise intolerance, hypoglycemia, lactic acidosis,
DE   hyperammonemia, and dramatic late catch-up growth after growth delay
DE   throughout childhood.
SY   3-alpha-methylglutaconic aciduria type 2.
SY   3-methylglutaconic aciduria type 2.
SY   3-methylglutaconic aciduria type II.
SY   AGM2.
SY   Cardioskeletal myopathy-neutropenia.
SY   Cardioskeletal myopathy with neutropenia and abnormal mitochondria.
SY   INVM.
SY   Left ventricular non-compaction isolated X-linked.
SY   MGA2.
SY   MGA type II.
SY   MGCA2.
SY   Non-compaction of left ventricular myocardium isolated X-linked.
DR   MIM; 302060; phenotype.
DR   MedGen; C0574083.
DR   MeSH; D056889.
KW   KW-0122:Cardiomyopathy.
//
ID   Bartsocas-Papas syndrome.
AC   DI-03375
AR   BPS.
DE   An autosomal recessive disorder characterized by multiple popliteal
DE   pterygia leading to severe arthrogryposis, ankyloblepharon filiforme
DE   adnatum, filiform bands between the jaws, synostosis of the
DE   carpal/tarsal and phalangeal bones in the hands and feet, digital
DE   hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails,
DE   lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft
DE   lip and/or palate, and hypoplastic external genitalia. Early lethality
DE   is common, although survival into childhood and beyond has been
DE   reported.
SY   Multiple pterygium syndrome, Aslan type.
SY   Popliteal pterygium syndrome, lethal type.
DR   MIM; 263650; phenotype.
DR   MedGen; C1849718.
DR   MeSH; D011625.
//
ID   Bartsocas-Papas syndrome 2.
AC   DI-06116
AR   BPS2.
DE   An autosomal recessive, severe form of popliteal pterygium syndrome.
DE   Popliteal pterygia syndromes have considerable variability in severity
DE   and in the associated phenotypic features but they are all
DE   characterized by cutaneous webbing across one or more major joints,
DE   cleft lip and/or palate, syndactyly, and genital malformations.
SY   Popliteal pterygium syndrome, Bartsocas-Papas type 2.
DR   MIM; 619339; phenotype.
DR   MedGen; CN296811.
DR   MeSH; D000015.
//
ID   Bartter syndrome 1, antenatal.
AC   DI-00173
AR   BARTS1.
DE   A form of Bartter syndrome, an autosomal recessive disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-
DE   threatening condition beginning in utero, with marked fetal polyuria
DE   that leads to polyhydramnios and premature delivery. Another hallmark
DE   is a marked hypercalciuria and, as a secondary consequence, the
DE   development of nephrocalcinosis and osteopenia.
SY   aBS1.
SY   Antenatal Bartter syndrome 1.
SY   BS1.
SY   Hyperprostaglandin E syndrome 1.
SY   Hypokalemic alkalosis with hypercalciuria antenatal 1.
DR   MIM; 601678; phenotype.
DR   MedGen; C1866495.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 2, antenatal.
AC   DI-00174
AR   BARTS2.
DE   A form of Bartter syndrome, an autosomal recessive disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-
DE   threatening condition beginning in utero, with marked fetal polyuria
DE   that leads to polyhydramnios and premature delivery. Another hallmark
DE   is a marked hypercalciuria and, as a secondary consequence, the
DE   development of nephrocalcinosis and osteopenia.
SY   aBS2.
SY   Antenatal Bartter syndrome 2.
SY   Bartter syndrome 2.
SY   BS2.
SY   Hyperprostanglandin E syndrome 2.
SY   Hypokalemic alkalosis with hypercalciuria antenatal 2.
DR   MIM; 241200; phenotype.
DR   MedGen; C1855849.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 3.
AC   DI-00175
AR   BARTS3.
DE   A form of Bartter syndrome, an autosomal recessive disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria.
SY   Classic Bartter syndrome.
DR   MIM; 607364; phenotype.
DR   MedGen; C1846343.
DR   MedGen; C1846344.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 4A, neonatal, with sensorineural deafness.
AC   DI-00176
AR   BARTS4A.
DE   A form of Bartter syndrome, an autosomal recessive disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria. BARTS4A is
DE   associated with sensorineural deafness.
SY   Bartter syndrome, neonatal, with sensorineural deafness.
SY   BSND.
SY   Hyperprostanglandin E syndrome 4.
SY   Hypokalemic alkalosis with hypercalciuria antenatal 4.
SY   Infantile Bartter syndrome with sensorineural deafness.
SY   Sensorineural deafness with mild renal dysfunction.
DR   MIM; 602522; phenotype.
DR   MedGen; C1865270.
DR   MedGen; C2748440.
DR   MeSH; D001477.
KW   KW-0209:Deafness.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 4B, neonatal, with sensorineural deafness.
AC   DI-02554
AR   BARTS4B.
DE   A digenic form of Bartter syndrome, an autosomal recessive disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria. BARTS4B is
DE   associated with sensorineural deafness.
SY   Bartter syndrome 4B.
SY   BSND.
SY   Infantile Bartter syndrome with sensorineural deafness.
DR   MIM; 613090; phenotype.
DR   MedGen; C2751312.
DR   MeSH; D001477.
KW   KW-0209:Deafness.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 5, antenatal, transient.
AC   DI-04715
AR   BARTS5.
DE   An X-linked recessive form of Bartter syndrome, a disorder
DE   characterized by impaired salt reabsorption in the thick ascending
DE   loop of Henle with pronounced salt wasting, hypokalemic metabolic
DE   alkalosis, and varying degrees of hypercalciuria. BARTS5 is an
DE   antenatal form beginning in utero with marked fetal polyuria that
DE   leads to polyhydramnios and premature delivery. It is characterized by
DE   severe but transient symptoms that can resolve with age.
SY   Bartter syndrome, type 5, antenatal, transient.
DR   MIM; 300971; phenotype.
DR   MedGen; CN236697.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Basal cell carcinoma.
AC   DI-02338
AR   BCC.
DE   A common malignant skin neoplasm that typically appears on hair-
DE   bearing skin, most commonly on sun-exposed areas. BCC is slow growing
DE   and rarely metastasizes, but has potentialities for local invasion and
DE   destruction. It usually develops as a flat, firm, pale area that is
DE   small, raised, pink or red, translucent, shiny, and waxy, and the area
DE   may bleed following minor injury. Tumor size can vary from a few
DE   millimeters to several centimeters in diameter.
SY   Multiple basal cell carcinoma.
SY   Non-syndromic basal cell carcinoma.
DR   MIM; 605462; phenotype.
DR   MedGen; C1854245.
DR   MedGen; C2751544.
DR   MedGen; C2751545.
DR   MeSH; D002280.
//
ID   Basal cell carcinoma 7.
AC   DI-03503
AR   BCC7.
DE   A common malignant skin neoplasm that typically appears on hair-
DE   bearing skin, most commonly on sun-exposed areas. It is slow growing
DE   and rarely metastasizes, but has potentialities for local invasion and
DE   destruction. It usually develops as a flat, firm, pale area that is
DE   small, raised, pink or red, translucent, shiny, and waxy, and the area
DE   may bleed following minor injury. Tumor size can vary from a few
DE   millimeters to several centimeters in diameter.
DR   MIM; 614740; phenotype.
DR   MedGen; C3553606.
DR   MedGen; CN130586.
DR   MeSH; D002280.
//
ID   Basal cell nevus syndrome 1.
AC   DI-00177
AR   BCNS1.
DE   A form of basal cell nevus syndrome, a disease characterized by nevoid
DE   basal cell carcinomas and developmental abnormalities such as rib and
DE   craniofacial alterations, polydactyly, syndactyly, and spina bifida.
DE   In addition, the patients suffer from a multitude of tumors like
DE   fibromas of the ovaries and heart, cysts of the skin, jaws and
DE   mesentery, as well as medulloblastomas and meningiomas. BCNS1
DE   inheritance is autosomal dominant.
SY   Basal cell nevus syndrome.
SY   Gorlin-Goltz syndrome.
SY   Gorlin syndrome.
SY   Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies.
SY   NBCCS.
SY   Nevoid basal cell carcinoma syndrome.
DR   MIM; 109400; phenotype.
DR   MedGen; C0004779.
DR   MeSH; D001478.
//
ID   Basal cell nevus syndrome 2.
AC   DI-06664
AR   BCNS2.
DE   A form of basal cell nevus syndrome, a disease characterized by nevoid
DE   basal cell carcinomas and developmental abnormalities such as rib and
DE   craniofacial alterations, polydactyly, syndactyly, and spina bifida.
DE   In addition, the patients suffer from a multitude of tumors like
DE   fibromas of the ovaries and heart, cysts of the skin, jaws and
DE   mesentery, as well as medulloblastomas and meningiomas.
SY   NBCCS2.
SY   Nevoid basal cell carcinoma syndrome 2.
DR   MIM; 620343; phenotype.
DR   MedGen; CN327020.
DR   MeSH; D001478.
//
ID   Basal ganglia calcification, idiopathic, 1.
AC   DI-03407
AR   IBGC1.
DE   A form of basal ganglia calcification, an autosomal dominant condition
DE   characterized by symmetric calcification in the basal ganglia and
DE   other brain regions. Affected individuals can either be asymptomatic
DE   or show a wide spectrum of neuropsychiatric symptoms, including
DE   parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE   and chronic headache. Serum levels of calcium, phosphate, alkaline
DE   phosphatase and parathyroid hormone are normal. The neuropathological
DE   hallmark of the disease is vascular and pericapillary calcification,
DE   mainly of calcium phosphate, in the affected brain areas.
SY   Autosomal dominant adult-onset striopallidodentate calcinosis.
SY   Bilateral striopallidodentate calcinosis.
SY   BSPDC.
SY   Cerebrovascular ferrocalcinosis.
SY   Familial Fahr disease.
SY   IBGC2.
SY   IBGC3.
SY   Idiopathic basal ganglia calcification 2.
SY   Idiopathic basal ganglia calcification 3.
SY   Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification.
SY   PFBC.
SY   Primary familial brain calcification.
DR   MIM; 213600; phenotype.
DR   MedGen; C0393590.
DR   MedGen; C3281142.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal ganglia calcification, idiopathic, 4.
AC   DI-03665
AR   IBGC4.
DE   A form of basal ganglia calcification, an autosomal dominant condition
DE   characterized by symmetric calcification in the basal ganglia and
DE   other brain regions. Affected individuals can either be asymptomatic
DE   or show a wide spectrum of neuropsychiatric symptoms, including
DE   parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE   and chronic headache. Serum levels of calcium, phosphate, alkaline
DE   phosphatase and parathyroid hormone are normal. The neuropathological
DE   hallmark of the disease is vascular and pericapillary calcification,
DE   mainly of calcium phosphate, in the affected brain areas.
DR   MIM; 615007; phenotype.
DR   MedGen; C3554321.
DR   MedGen; CN164260.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal ganglia calcification, idiopathic, 5.
AC   DI-03923
AR   IBGC5.
DE   A form of basal ganglia calcification, an autosomal dominant condition
DE   characterized by symmetric calcification in the basal ganglia and
DE   other brain regions. Affected individuals can either be asymptomatic
DE   or show a wide spectrum of neuropsychiatric symptoms, including
DE   parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE   and chronic headache. Serum levels of calcium, phosphate, alkaline
DE   phosphatase and parathyroid hormone are normal. The neuropathological
DE   hallmark of the disease is vascular and pericapillary calcification,
DE   mainly of calcium phosphate, in the affected brain areas.
DR   MIM; 615483; phenotype.
DR   MedGen; C3809645.
DR   MedGen; CN185289.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal ganglia calcification, idiopathic, 6.
AC   DI-04453
AR   IBGC6.
DE   A form of basal ganglia calcification, an autosomal dominant condition
DE   characterized by symmetric calcification in the basal ganglia and
DE   other brain regions. Affected individuals can either be asymptomatic
DE   or show a wide spectrum of neuropsychiatric symptoms, including
DE   parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures,
DE   and chronic headache. Serum levels of calcium, phosphate, alkaline
DE   phosphatase and parathyroid hormone are normal. The neuropathological
DE   hallmark of the disease is vascular and pericapillary calcification,
DE   mainly of calcium phosphate, in the affected brain areas.
DR   MIM; 616413; phenotype.
DR   MedGen; CN231252.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal ganglia calcification, idiopathic, 7, autosomal recessive.
AC   DI-05477
AR   IBGC7.
DE   A form of basal ganglia calcification, a genetically heterogeneous
DE   condition characterized by symmetric calcification in the basal
DE   ganglia and other brain regions. Affected individuals can either be
DE   asymptomatic or show a wide spectrum of neuropsychiatric symptoms,
DE   including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis,
DE   seizures, and chronic headache. Serum levels of calcium, phosphate,
DE   alkaline phosphatase and parathyroid hormone are normal. The
DE   neuropathological hallmark of the disease is vascular and
DE   pericapillary calcification, mainly of calcium phosphate, in the
DE   affected brain areas.
DR   MIM; 618317; phenotype.
DR   MedGen; CN258198.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal ganglia calcification, idiopathic, 8, autosomal recessive.
AC   DI-05778
AR   IBGC8.
DE   A form of basal ganglia calcification, a genetically heterogeneous
DE   condition characterized by symmetric calcification in the basal
DE   ganglia and other brain regions. Affected individuals can either be
DE   asymptomatic or show a wide spectrum of neuropsychiatric symptoms,
DE   including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis,
DE   seizures, and chronic headache. Serum levels of calcium, phosphate,
DE   alkaline phosphatase and parathyroid hormone are normal. The
DE   neuropathological hallmark of the disease is vascular and
DE   pericapillary calcification, mainly of calcium phosphate, in the
DE   affected brain areas.
DR   MIM; 618824; phenotype.
DR   MedGen; CN263397.
DR   MeSH; D001480.
DR   MeSH; D002114.
//
ID   Basal laminar drusen.
AC   DI-02606
AR   BLD.
DE   Drusen are extracellular deposits that accumulate below the retinal
DE   pigment epithelium on Bruch membrane. Basal laminar drusen refers to
DE   an early adult-onset drusen phenotype that shows a pattern of uniform
DE   small, slightly raised yellow subretinal nodules randomly scattered in
DE   the macula. In later stages, these drusen often become more numerous,
DE   with clustered groups of drusen scattered throughout the retina. In
DE   time these small basal laminar drusen may expand and ultimately lead
DE   to a serous pigment epithelial detachment of the macula that may
DE   result in vision loss.
SY   Drusen cuticular.
SY   Drusen early adult-onset grouped.
SY   Drusen of Bruch membrane.
DR   MIM; 126700; phenotype.
DR   MedGen; C0730295.
DR   MeSH; D015593.
//
ID   Basan syndrome.
AC   DI-04977
AR   BSNS.
DE   An autosomal dominant form of adermatoglyphia associated with
DE   congenital facial milia, acral blistering, digital contractures, and
DE   nail abnormalities. Adermatoglyphia is defined by the lack of
DE   epidermal ridges on the palms and soles, which results in the absence
DE   of fingerprints.
SY   Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities.
SY   Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease.
DR   MIM; 129200; phenotype.
DR   MedGen; C0406707.
DR   MeSH; D004476.
DR   MeSH; D012868.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Basel-Vanagaite-Smirin-Yosef syndrome.
AC   DI-04474
AR   BVSYS.
DE   An autosomal recessive syndrome characterized by eye, brain, cardiac
DE   and palatal abnormalities as well as growth retardation, microcephaly
DE   and severe intellectual disability.
DR   MIM; 616449; phenotype.
DR   MedGen; CN231442.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Basilicata-Akhtar syndrome.
AC   DI-05649
AR   MRXSBA.
DE   An X-linked syndrome characterized by intellectual disability, global
DE   developmental delay, progressive gait disturbance, poor or absent
DE   speech, facial dysmorphism, and mild distal skeletal anomalies.
SY   MRXS36.
DR   MIM; 301032; phenotype.
DR   MedGen; CN262328.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Bazex-Dupre-Christol syndrome.
AC   DI-06694
AR   BDCS.
DE   An X-linked dominant disorder characterized by a triad of congenital
DE   hypotrichosis, follicular atrophoderma affecting the dorsa of the
DE   hands and feet, the face and extensor surfaces of the elbows or knees,
DE   and the development of basocellular neoplasms including basal cell
DE   nevi and basal cell carcinomas from the second decade onwards. Other
DE   reported features include associated hair shaft abnormalities (pili
DE   torti and trichorrhexis nodosa) admixed with hypotrichosis, prominent
DE   milia affecting the face, hypohidrosis, pinched nose with hypoplastic
DE   nasal alae and prominent columella, atopic diathesis with comedones,
DE   keratosis pilaris, joint hypermobility, lingua plicata and
DE   hyperpigmentation of the forehead.
SY   Bazex syndrome.
SY   BZX.
SY   Follicular atrophoderma and basal cell carcinomas.
SY   Follicular atrophoderma and basal cell epitheliomata.
DR   MIM; 301845; phenotype.
DR   MedGen; C0346104.
DR   MeSH; D002280.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   BDV syndrome.
AC   DI-06110
AR   BDVS.
DE   An autosomal recessive disorder characterized by obesity, intellectual
DE   disability, and hypogonadotropic hypogonadism. Additional variable
DE   features include central hypothyroidism, hypotonia, and developmental
DE   delay.
SY   Blakemore-Durmaz-Vasileiou syndrome.
SY   IDDHH.
SY   Intellectual developmental disorder and hypogonadotropic hypogonadism.
DR   MIM; 619326; phenotype.
DR   MedGen; CN296785.
DR   MeSH; D007006.
DR   MeSH; D008607.
KW   KW-0550:Obesity.
KW   KW-0991:Intellectual disability.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Beare-Stevenson cutis gyrata syndrome.
AC   DI-01270
AR   BSTVS.
DE   An autosomal dominant disease characterized by craniofacial anomalies,
DE   particularly craniosynostosis, and ear defects, cutis gyrata,
DE   acanthosis nigricans, anogenital anomalies, skin tags, and prominent
DE   umbilical stump. The skin furrows have a corrugated appearance and are
DE   widespread. Cutis gyrata variably affects the scalp, forehead, face,
DE   preauricular area, neck, trunk, hands, and feet.
SY   Beare-Stevenson syndrome.
SY   Cutis gyrata syndrome of Beare and Stevenson.
DR   MIM; 123790; phenotype.
DR   MedGen; C1852406.
DR   MeSH; D000052.
DR   MeSH; D003398.
DR   MeSH; D012868.
KW   KW-0989:Craniosynostosis.
//
ID   Beaulieu-Boycott-Innes syndrome.
AC   DI-03901
AR   BBIS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   delayed development, moderate intellectual disability, and dysmorphic
DE   facial features. Other developmental anomalies, such as cardiac and
DE   renal defects, may also occur.
DR   MIM; 613680; phenotype.
DR   MedGen; C3150939.
DR   MeSH; D000015.
//
ID   Beck-Fahrner syndrome.
AC   DI-05782
AR   BEFAHRS.
DE   A developmental disorder characterized by mild to severe intellectual
DE   disability, global developmental delay, hypotonia, autistic traits,
DE   movement disorders, growth abnormalities including overgrowth or poor
DE   growth, and facial dysmorphism. Both autosomal dominant and autosomal
DE   recessive inheritance has been reported.
DR   MIM; 618798; phenotype.
DR   MedGen; CN263349.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Becker muscular dystrophy.
AC   DI-00178
AR   BMD.
DE   A neuromuscular disorder characterized by dystrophin deficiency. It
DE   appears between the age of 5 and 15 years with a proximal motor
DE   deficiency of variable progression. Heart involvement can be the
DE   initial sign. Becker muscular dystrophy has a more benign course than
DE   Duchenne muscular dystrophy.
DR   MIM; 300376; phenotype.
DR   MedGen; C0917713.
DR   MeSH; D020388.
//
ID   Becker nevus syndrome.
AC   DI-06747
AR   BNS.
DE   A syndrome characterized by the association of Becker nevi with
DE   musculoskeletal abnormalities, unilateral breast hypoplasia, mental
DE   retardation, developmental delay, and cardiomyopathy. Becker nevus is
DE   a cutaneous hamartoma that appears in childhood as a unilateral tan
DE   patch and increases in thickness, pigmentation, and hair growth during
DE   adolescence. Histologically, epidermal acanthosis is accompanied by
DE   irregularly dispersed ectopic smooth muscle bundles and increased
DE   terminal hair follicles. Most cases are sporadic.
SY   Becker nevus, isolated.
SY   Becker nevus, syndromic or isolated, somatic mosaic.
DR   MIM; 604919; phenotype.
DR   MedGen; C1858042.
DR   MeSH; D009506.
DR   MeSH; D012878.
//
ID   Beckwith-Wiedemann syndrome.
AC   DI-00179
AR   BWS.
DE   A disorder characterized by anterior abdominal wall defects including
DE   exomphalos (omphalocele), pre- and postnatal overgrowth, and
DE   macroglossia. Additional less frequent complications include specific
DE   developmental defects and a predisposition to embryonal tumors.
SY   EMG syndrome.
SY   Exomphalos-macroglossia-gigantism syndrome.
DR   MIM; 130650; phenotype.
DR   MedGen; C0004903.
DR   MeSH; D001506.
//
ID   Behr syndrome.
AC   DI-04690
AR   BEHRS.
DE   An autosomal recessive syndrome characterized by optic atrophy
DE   beginning in early childhood associated with ataxia, pyramidal signs,
DE   spasticity, intellectual disability, and posterior column sensory
DE   loss. The ataxia, spasticity, and muscle contractures, mainly of the
DE   hip adductors, hamstrings, and soleus, are progressive and become more
DE   prominent in the second decade.
SY   Infantile hereditary optic atrophy with neurologic abnormalities.
SY   Optic atrophy, infantile hereditary, with neurologic abnormalities.
DR   MIM; 210000; phenotype.
DR   MedGen; C0221061.
DR   MeSH; D001259.
DR   MeSH; D008607.
DR   MeSH; D009896.
DR   MeSH; D013035.
KW   KW-0523:Neurodegeneration.
//
ID   Benign essential blepharospasm.
AC   DI-00180
AR   BEB.
DE   A primary focal dystonia affecting the orbicularis oculi muscles.
DE   Dystonia is defined by the presence of sustained involuntary muscle
DE   contraction, often leading to abnormal postures. BEB usually begins in
DE   middle age. Initial symptoms include eye irritation and frequent
DE   blinking, progressing to involuntary spasms of eyelid closure.
DE   Patients have normal eyes. The visual disturbance is due solely to the
DE   forced closure of the eyelids. In severe cases, this can lead to
DE   functional blindness.
DR   MIM; 606798; phenotype.
DR   MedGen; C0005747.
DR   MedGen; C2930898.
DR   MeSH; D001764.
KW   KW-1023:Dystonia.
//
ID   Bent bone dysplasia syndrome 1.
AC   DI-03429
AR   BBDS1.
DE   A perinatal lethal skeletal dysplasia characterized by poor
DE   mineralization of the calvarium, craniosynostosis, dysmorphic facial
DE   features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia,
DE   and bent long bones. Dysmorphic facial features included low-set ears,
DE   hypertelorism, midface hypoplasia, prematurely erupted fetal teeth,
DE   and micrognathia.
DR   MIM; 614592; phenotype.
DR   MedGen; C3281247.
DR   MeSH; D001848.
//
ID   Bent bone dysplasia syndrome 2.
AC   DI-06527
AR   BBDS2.
DE   An autosomal recessive bone dysplasia characterized by defects in both
DE   the axial and appendicular skeleton, with radiographic findings
DE   showing undermineralized bone and a distinct angulation of the mid
DE   femoral shaft. Extraskeletal features include facial dysmorphisms,
DE   abnormally formed ears with tags, wide spaced nipples, and atrial
DE   septal defects. Elbow fusions, ulnar flexion contractions at the
DE   wrist, bilateral talipes equinovarus, and failure to mount a
DE   respiratory effort at birth suggest abnormalities in muscle function.
DR   MIM; 620076; phenotype.
DR   MedGen; CN322300.
DR   MeSH; D001848.
//
ID   Bernard-Soulier syndrome.
AC   DI-01274
AR   BSS.
DE   A coagulation disorder characterized by a prolonged bleeding time,
DE   unusually large platelets, thrombocytopenia, and impaired prothrombin
DE   consumption.
SY   BDPLT1.
SY   Bernard-Soulier syndrome type A1.
SY   Bernard-Soulier syndrome type B.
SY   Bernard-Soulier syndrome type C.
SY   Bleeding disorder platelet-type 1.
SY   Giant platelet disease.
SY   GPD.
SY   Platelet glycoprotein Ib deficiency.
SY   Von Willebrand factor receptor deficiency.
DR   MIM; 231200; phenotype.
DR   MedGen; C0005129.
DR   MedGen; C1856447.
DR   MedGen; C1856448.
DR   MedGen; C2713537.
DR   MedGen; C3278148.
DR   MeSH; D001606.
//
ID   Bernard-Soulier syndrome A2, autosomal dominant.
AC   DI-01273
AR   BSSA2.
DE   A coagulation disorder characterized by mild to moderate bleeding
DE   tendency, thrombocytopenia, and an increased mean platelet volume.
DE   Some individuals have no symptoms. Mild bleeding tendencies manifest
DE   as epistaxis, gingival bleeding, menorrhagia, easy bruising, or
DE   prolonged bleeding after dental surgery.
SY   Autosomal dominant benign Bernard-Soulier syndrome.
SY   Benign mediterranean macrothrombocytopenia.
DR   MIM; 153670; phenotype.
DR   MedGen; C2750610.
DR   MedGen; C3277076.
DR   MeSH; D001606.
//
ID   Bestrophinopathy, autosomal recessive.
AC   DI-00187
AR   ARB.
DE   A retinopathy characterized by loss of central vision, an absent
DE   electro-oculogram light rise, and electroretinogram anomalies.
SY   Bestrophinopathy.
SY   Retinopathy Burgess-Black type.
DR   MIM; 611809; phenotype.
DR   MedGen; C2678493.
DR   MeSH; D012164.
//
ID   Beta-thalassemia.
AC   DI-01275
AR   B-THAL.
DE   A form of thalassemia. Thalassemias are common monogenic diseases
DE   occurring mostly in Mediterranean and Southeast Asian populations. The
DE   hallmark of beta-thalassemia is an imbalance in globin-chain
DE   production in the adult HbA molecule. Absence of beta chain causes
DE   beta(0)-thalassemia, while reduced amounts of detectable beta globin
DE   causes beta(+)-thalassemia. In the severe forms of beta-thalassemia,
DE   the excess alpha globin chains accumulate in the developing erythroid
DE   precursors in the marrow. Their deposition leads to a vast increase in
DE   erythroid apoptosis that in turn causes ineffective erythropoiesis and
DE   severe microcytic hypochromic anemia. Clinically, beta-thalassemia is
DE   divided into thalassemia major which is transfusion dependent,
DE   thalassemia intermedia (of intermediate severity), and thalassemia
DE   minor that is asymptomatic.
SY   Beta thalassemia.
SY   Cooley's anemia.
SY   Erythroblastic anemia.
SY   Mediterranean anemia.
SY   Thalassemia major.
SY   Thalassemia minor.
DR   MIM; 613985; phenotype.
DR   MedGen; C0005283.
DR   MedGen; C0472767.
DR   MedGen; C0599528.
DR   MedGen; C0869532.
DR   MeSH; D017086.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Beta-thalassemia, dominant, inclusion body type.
AC   DI-01498
AR   B-THALIB.
DE   An autosomal dominant form of beta thalassemia characterized by
DE   moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly,
DE   marked morphologic changes in the red cells, erythroid hyperplasia of
DE   the bone marrow with increased numbers of multinucleate red cell
DE   precursors, and the presence of large inclusion bodies in the
DE   normoblasts, both in the marrow and in the peripheral blood after
DE   splenectomy.
SY   Beta thalassemia dominant inclusion body type.
SY   Dyserythropoietic anemia congenital Irish or Weatherall type.
DR   MIM; 603902; phenotype.
DR   MedGen; C1858990.
DR   MeSH; D000742.
DR   MeSH; D017086.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Beta-ureidopropionase deficiency.
AC   DI-01276
AR   UPB1D.
DE   An inborn error of metabolism due to a defect in pyrimidine
DE   degradation. It is characterized by muscular hypotonia, dystonic
DE   movements, scoliosis, microcephaly and severe developmental delay.
DE   Patients show strongly elevated levels of N-carbamyl-beta-alanine and
DE   N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid
DE   and urine.
DR   MIM; 613161; phenotype.
DR   MedGen; C1291512.
DR   MeSH; D011686.
//
ID   Bethlem myopathy 1.
AC   DI-00188
AR   BTHLM1.
DE   A benign proximal myopathy characterized by early childhood onset and
DE   joint contractures most frequently affecting the elbows and ankles.
SY   Bethlem myopathy.
SY   LGMDD5.
SY   Muscular dystrophy, benign congenital.
SY   Muscular dystrophy, limb-girdle, autosomal dominant 5.
SY   Myopathy, benign congenital, with contractures.
DR   MIM; 158810; phenotype.
DR   MedGen; C1834674.
DR   MeSH; D009136.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Bethlem myopathy 2.
AC   DI-04487
AR   BTHLM2.
DE   A form of Bethlem myopathy, a benign proximal myopathy characterized
DE   by early childhood onset and joint contractures most frequently
DE   affecting the elbows and ankles. BTHLM2 inheritance is autosomal
DE   dominant.
SY   EDS, myopathic.
SY   EDSMYP.
SY   Ehlers-Danlos syndrome, myopathic.
DR   MIM; 616471; phenotype.
DR   MedGen; CN231483.
DR   MeSH; D009136.
//
ID   Beukes hip dysplasia.
AC   DI-04544
AR   HDB.
DE   A severe progressive degenerative osteoarthritis of the hip joint with
DE   underlying dysplasia confined to that region. Affected individuals are
DE   of normal stature and have no associated health problems. Inheritance
DE   is autosomal dominant.
SY   Beukes familial hip dysplasia.
SY   BFHD.
SY   Hip dysplasia, Beukes type.
SY   Premature degenerative osteoarthropathy.
DR   MIM; 142669; phenotype.
DR   MedGen; C1840572.
DR   MeSH; D006618.
DR   MeSH; D010009.
//
ID   Bietti crystalline corneoretinal dystrophy.
AC   DI-01280
AR   BCD.
DE   An autosomal recessive ocular disease characterized by retinal
DE   degeneration and marginal corneal dystrophy. Typical features include
DE   multiple glistening intraretinal crystals scattered over the fundus, a
DE   characteristic degeneration of the retina, and sclerosis of the
DE   choroidal vessels, ultimately resulting in progressive night blindness
DE   and constriction of the visual field. Most patients have similar
DE   crystals at the corneoscleral limbus. Patients develop decreased
DE   vision, nyctalopia, and paracentral scotomata between the 2nd and 4th
DE   decade of life. Later, they develop peripheral visual field loss and
DE   marked visual impairment, usually progressing to legal blindness by
DE   the 5th or 6th decade of life.
SY   Bietti crystalline dystrophy.
SY   Bietti tapetoretinal degeneration with marginal corneal dystrophy.
SY   Crystalline retinopathy.
DR   MIM; 210370; phenotype.
DR   MedGen; C1859486.
DR   MeSH; D003317.
DR   MeSH; D012164.
KW   KW-1212:Corneal dystrophy.
//
ID   Bifid nose, with or without anorectal and renal anomalies.
AC   DI-02627
AR   BNAR.
DE   A disease characterized by the presence of a bifid nose usually
DE   associated with renal agenesis and anorectal malformations. A bifid
DE   nose is a congenital deformity due to failure of the paired nasal
DE   processes to fuse to a single midline organ during early gestation.
SY   Bifid nose renal agenesis and anorectal malformations syndrome.
DR   MIM; 608980; phenotype.
DR   MedGen; C2750433.
DR   MeSH; D000013.
DR   MeSH; D009668.
//
ID   Bilateral optic nerve hypoplasia.
AC   DI-01282
AR   BONH.
DE   A congenital anomaly in which the optic disk appears abnormally small.
DE   It may be an isolated finding or part of a spectrum of anatomic and
DE   functional abnormalities that includes partial or complete agenesis of
DE   the septum pellucidum, other midline brain defects, cerebral
DE   anomalies, pituitary dysfunction, and structural abnormalities of the
DE   pituitary.
SY   Bilateral optic nerve aplasia.
DR   MIM; 165550; phenotype.
DR   MedGen; C1833797.
DR   MedGen; C1833798.
DR   MeSH; D000013.
//
ID   Bile acid conjugation defect 1.
AC   DI-06059
AR   BACD1.
DE   An autosomal recessive metabolic disorder characterized by reduced
DE   biliary secretion of conjugated bile acids, fat malabsorption, and
DE   fat-soluble vitamin deficiency. Clinical manifestations include
DE   rickets with variable growth failure due to vitamin D deficiency, and
DE   coagulopathy due to deficiency of vitamin K-dependent clotting
DE   factors. Additional variable features include pruritis, anemia,
DE   hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory
DE   studies show abnormally increased levels of unconjugated bile acids.
DR   MIM; 619232; phenotype.
DR   MedGen; CN296017.
DR   MeSH; D008661.
//
ID   Bile acid malabsorption, primary, 1.
AC   DI-02198
AR   PBAM1.
DE   An autosomal recessive intestinal disorder associated with chronic
DE   watery diarrhea, excess fecal bile acids, steatorrhea and interruption
DE   of the enterohepatic circulation of bile acids.
DR   MIM; 613291; phenotype.
DR   MedGen; C2750087.
DR   MeSH; D045602.
//
ID   Bile acid malabsorption, primary, 2.
AC   DI-06199
AR   PBAM2.
DE   An autosomal recessive disorder characterized by chronic diarrhea,
DE   severe fat-soluble vitamin deficiency, and features of cholestatic
DE   liver disease.
DR   MIM; 619481; phenotype.
DR   MedGen; CN300335.
DR   MeSH; D008286.
//
ID   Biliary, renal, neurologic, and skeletal syndrome.
AC   DI-06257
AR   BRENS.
DE   An autosomal recessive ciliopathy with multisystemic manifestations
DE   including severe neonatal cholestasis that progresses to liver
DE   fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal
DE   abnormalities, and situs inversus. Additional features may include
DE   congenital cardiac defects, echogenic kidneys with renal failure,
DE   ocular abnormalities, joint hyperextensibility, and dysmorphic facial
DE   features. Some patients have global developmental delay. Brain imaging
DE   typically shows dilated ventricles, hypomyelination, and white matter
DE   abnormalities, although some patients have been described with
DE   abnormal pituitary development.
SY   BRENS syndrome.
DR   MIM; 619534; phenotype.
DR   MedGen; CN300605.
DR   MeSH; D000072661.
KW   KW-1186:Ciliopathy.
//
ID   Biotinidase deficiency.
AC   DI-00189
AR   BTD deficiency.
DE   A juvenile form of multiple carboxylase deficiency, an autosomal
DE   recessive disorder of biotin metabolism, characterized by
DE   ketoacidosis, hyperammonemia, excretion of abnormal organic acid
DE   metabolites, and dermatitis. Biotinidase deficiency is characterized
DE   by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and
DE   optic atrophy. If untreated, symptoms usually become progressively
DE   worse, and coma and death may occur.
SY   Late-onset MCD.
SY   Late-onset multiple carboxylase deficiency.
SY   MCD juvenile form.
SY   Multiple carboxylase deficiency, juvenile-onset.
SY   Multiple carboxylase deficiency, late-onset.
DR   MIM; 253260; phenotype.
DR   MedGen; C0220754.
DR   MedGen; C1854698.
DR   MeSH; D028921.
//
ID   Birbeck granule deficiency.
AC   DI-02857
AR   BIRGD.
DE   A condition characterized by the absence of Birbeck granules in
DE   epidermal Langerhans cells. Despite the lack of Birbeck granules,
DE   Langerhans cells are present in normal numbers and have normal
DE   morphologic characteristics and antigen-presenting capacity.
SY   Absence of Birbeck granules.
DR   MIM; 613393; phenotype.
DR   MedGen; C3150657.
//
ID   Birk-Aharoni syndrome.
AC   DI-06522
AR   BKAH.
DE   An autosomal recessive disorder characterized by failure to thrive,
DE   severe developmental delay, intellectual disability, spastic
DE   tetraplegia with central hypotonia, chorea, hearing loss, micropenis
DE   and undescended testes, as well as mild elevation of liver enzymes.
SY   NEDGTH.
SY   Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss.
DR   MIM; 620071; phenotype.
DR   MedGen; CN322301.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Birk-Barel syndrome.
AC   DI-02513
AR   BIBARS.
DE   A syndrome characterized by intellectual disability, hypotonia,
DE   hyperactivity, and facial dysmorphism. BIBARS transmission pattern is
DE   consistent with autosomal dominant inheritance with paternal
DE   imprinting.
DR   MIM; 612292; phenotype.
DR   MedGen; C2676770.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Birk-Landau-Perez syndrome.
AC   DI-05046
AR   BILAPES.
DE   An autosomal recessive syndrome characterized by early-childhood onset
DE   of different combinations of intellectual disability, muscle weakness,
DE   camptocormia, oculomotor apraxia, and nephropathy.
DR   MIM; 617595; phenotype.
DR   MedGen; CN353477.
DR   MeSH; D000015.
//
ID   Birt-Hogg-Dube syndrome 1.
AC   DI-00190
AR   BHD1.
DE   A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually
DE   manifesting in adulthood and characterized by multiple
DE   fibrofolliculomas, trichodiscomas, and acrochordons. Patients with
DE   this syndrome have an increased susceptibility to develop renal cell
DE   carcinoma, lung cysts, and spontaneous pneumothorax. Inheritance is
DE   autosomal dominant.
SY   Fibrofolliculomas with trichodiscomas and acrochordons.
SY   Hornstein-Knickenberg syndrome.
DR   MIM; 135150; phenotype.
DR   MedGen; C0346010.
DR   MeSH; D058249.
//
ID   Birt-Hogg-Dube syndrome 2.
AC   DI-06731
AR   BHD2.
DE   A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually
DE   manifesting in adulthood and characterized by multiple
DE   fibrofolliculomas, trichodiscomas, and acrochordons. Patients with
DE   this syndrome have an increased susceptibility to develop renal cell
DE   carcinoma, lung cysts, and spontaneous pneumothorax. BHD2 inheritance
DE   is autosomal dominant.
DR   MIM; 620459; phenotype.
DR   MedGen; CN372445.
DR   MeSH; D058249.
//
ID   Bjoernstad syndrome.
AC   DI-01285
AR   BJS.
DE   An autosomal recessive disease characterized by congenital
DE   sensorineural hearing loss and twisted hairs (pili torti). Pili torti
DE   is a condition in which the hair shafts are flattened at irregular
DE   intervals and twisted 180 degrees from the normal axis, making the
DE   hair extremely brittle.
SY   Bjornstad syndrome.
SY   Pili torti and nerve deafness.
SY   PTD.
DR   MIM; 262000; phenotype.
DR   MedGen; C0266006.
DR   MeSH; D006201.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
//
ID   Bladder cancer.
AC   DI-02612
AR   BLC.
DE   A malignancy originating in tissues of the urinary bladder. It often
DE   presents with multiple tumors appearing at different times and at
DE   different sites in the bladder. Most bladder cancers are transitional
DE   cell carcinomas that begin in cells that normally make up the inner
DE   lining of the bladder. Other types of bladder cancer include squamous
DE   cell carcinoma (cancer that begins in thin, flat cells) and
DE   adenocarcinoma (cancer that begins in cells that make and release
DE   mucus and other fluids). Bladder cancer is a complex disorder with
DE   both genetic and environmental influences.
SY   Urinary bladder cancer.
SY   Urothelial carcinoma of the bladder.
DR   MIM; 109800; phenotype.
DR   MedGen; C0005684.
DR   MeSH; D001749.
//
ID   Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT.
AC   DI-05743
AR   BAIPRCK.
DE   An autosomal recessive disease characterized by impaired innervation
DE   and autonomic dysfunction of the urinary bladder, hydronephrosis,
DE   vesicoureteral reflux, small kidneys, recurrent urinary tract
DE   infections, and progressive renal insufficiency. Additional autonomic
DE   features are impaired pupillary reflex and orthostatic hypotension.
DE   The disease manifests in utero or early childhood.
SY   Atony of urinary bladder.
DR   MIM; 191800; phenotype.
DR   MedGen; C0403645.
DR   MeSH; D001750.
//
ID   Blau syndrome.
AC   DI-01286
AR   BLAUS.
DE   An autosomal dominant inflammatory disorder characterized by the
DE   formation of immune granulomas invading the skin, joints and eye.
DE   Other organs may be involved. Clinical manifestations are variable and
DE   include early-onset granulomatous arthritis, uveitis and skin rash.
DE   Blindness, joint destruction and visceral involvement have been
DE   reported in severe cases.
SY   ACUG.
SY   Arthrocutaneouveal granulomatosis.
SY   EOS.
SY   Familial granulomatosis blau type.
SY   Familial granulomatous inflammatory arthritis dermatitis and uveitis.
SY   Familial juvenile systemic granulomatosis.
SY   Jabs syndrome.
SY   Sarcoidosis, early-onset.
DR   MIM; 186580; phenotype.
DR   MedGen; C1861303.
DR   MeSH; D007592.
DR   MeSH; D014605.
//
ID   Bleeding disorder, platelet-type, 11.
AC   DI-03257
AR   BDPLT11.
DE   A mild to moderate bleeding disorder caused by defective platelet
DE   activation and aggregation in response to collagen.
SY   Glycoprotein VI deficiency.
SY   GP VI deficiency.
DR   MIM; 614201; phenotype.
DR   MedGen; C3280120.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 13.
AC   DI-03258
AR   BDPLT13.
DE   A disorder characterized by reduced platelet aggregation and a
DE   tendency to mild mucocutaneous bleeding.
SY   Bleeding disorder due to defective platelet thromboxane A2 receptor.
DR   MIM; 614009; phenotype.
DR   MedGen; C3279614.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 15.
AC   DI-03753
AR   BDPLT15.
DE   An autosomal dominant form of macrothrombocytopenia. Affected
DE   individuals usually have no or only mild bleeding tendency, such as
DE   epistaxis. Laboratory studies show decreased numbers of large
DE   platelets and anisocytosis, but the platelets show no in vitro
DE   functional abnormalities.
SY   Autosomal dominant macrothrombocytopenia ACTN1-related.
DR   MIM; 615193; phenotype.
DR   MedGen; C3554663.
DR   MedGen; CN169278.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 16.
AC   DI-03752
AR   BDPLT16.
DE   An autosomal dominant form of congenital macrothrombocytopenia
DE   associated with platelet anisocytosis. It is a disorder of platelet
DE   production. Affected individuals may have no or only mildly increased
DE   bleeding tendency. In vitro studies show mild platelet functional
DE   abnormalities.
SY   Glanzmann thrombasthenia-like with macrothrombocytopenia 1.
DR   MIM; 187800; phenotype.
DR   MedGen; C1861195.
DR   MeSH; D006470.
DR   MeSH; D013915.
//
ID   Bleeding disorder, platelet-type, 17.
AC   DI-04008
AR   BDPLT17.
DE   An autosomal dominant disorder characterized by increased bleeding
DE   tendency due to platelet dysfunction, and associated with
DE   macrothrombocytopenia and red cell anisopoikilocytosis. Platelets
DE   appear abnormal on light microscopy, while electron microscopy shows a
DE   heterogeneous decrease of alpha granules within platelets. Bone marrow
DE   biopsy shows increased numbers of abnormal megakaryocytes, suggesting
DE   a defect in megakaryopoiesis and platelet production. The severity of
DE   bleeding is variable with some affected individuals experiencing
DE   spontaneous bleeding while other exhibit only abnormal bleeding with
DE   surgery.
SY   Autosomal dominant macrothrombocytopenia GFI1B-related.
SY   Autosomal dominant platelet disorder GFI1B-related.
SY   Hereditary thrombasthenia-thrombocytopenia.
DR   MIM; 187900; phenotype.
DR   MedGen; C1861194.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 18.
AC   DI-04150
AR   BDPLT18.
DE   A disorder characterized by increased bleeding tendency due to
DE   platelet dysfunction. Clinical features include epistaxis, hematomas,
DE   bleeding after tooth extraction, and menorrhagia.
DR   MIM; 615888; phenotype.
DR   MedGen; CN189800.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 19.
AC   DI-04294
AR   BDPLT19.
DE   A disorder characterized by increased bleeding tendency due to
DE   platelet dysfunction. Clinical features include epistaxis, hematomas,
DE   bleeding after tooth extraction, and menorrhagia.
DR   MIM; 616176; phenotype.
DR   MedGen; CN224992.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 20.
AC   DI-04706
AR   BDPLT20.
DE   A disorder characterized by increased bleeding tendency due to
DE   platelet dysfunction. Clinical features include epistaxis, hematomas,
DE   bleeding after tooth extraction, and menorrhagia. BDPLT20 is
DE   characterized by moderate thrombocytopenia and platelet secretion
DE   defects. Inheritance is autosomal dominant.
DR   MIM; 616913; phenotype.
DR   MedGen; CN236379.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 21.
AC   DI-04984
AR   BDPLT21.
DE   A disorder characterized by increased bleeding tendency due to
DE   platelet dysfunction. Clinical features include epistaxis, hematomas,
DE   bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may
DE   have mild to moderate thrombocytopenia.
DR   MIM; 617443; phenotype.
DR   MedGen; CN242283.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 22.
AC   DI-05589
AR   BDPLT22.
DE   An autosomal recessive disorder characterized by increased bleeding
DE   tendency due to platelet dysfunction. Clinical features include
DE   epistaxis, hematomas, bleeding after minor injuries, and menorrhagia.
DR   MIM; 618462; phenotype.
DR   MedGen; CN259043.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 24.
AC   DI-06077
AR   BDPLT24.
DE   An autosomal dominant disorder of platelet production characterized by
DE   congenital macrothrombocytopenia and platelet anisocytosis. Affected
DE   individuals may have no or only mildly increased bleeding tendency.
SY   Bleeding disorder, platelet-type, 24, autosomal dominant.
SY   Glanzmann thrombasthenia-like with macrothrombocytopenia  2.
DR   MIM; 619271; phenotype.
DR   MedGen; CN296335.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 25.
AC   DI-06751
AR   BDPLT25.
DE   An autosomal dominant disorder characterized by increased bleeding
DE   tendency due to decreased or dysfunctional platelets. Platelet
DE   morphologic and functional defects are variable. Some individuals have
DE   normal numbers of enlarged platelets.
DR   MIM; 620486; phenotype.
DR   MedGen; CN372723.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Bleeding disorder, platelet-type, 8.
AC   DI-02867
AR   BDPLT8.
DE   A condition characterized by mild to moderate mucocutaneous bleeding,
DE   and excessive bleeding after surgery or trauma. The defect is due to
DE   severe impairment of platelet response to ADP resulting in defective
DE   platelet aggregation.
SY   ADP platelet receptor P2Y12 deficiency.
SY   Bleeding disorder due to P2RY12 defect.
SY   P2RY12 deficiency.
SY   P2Y12 deficiency.
DR   MIM; 609821; phenotype.
DR   MedGen; C1853278.
DR   MedGen; C3277555.
DR   MeSH; D001791.
DR   MeSH; D006470.
//
ID   Blepharocheilodontic syndrome 1.
AC   DI-05103
AR   BCDS1.
DE   A form of blepharocheilodontic syndrome, a rare autosomal dominant
DE   disorder. It is characterized by lower eyelid ectropion, upper eyelid
DE   distichiasis, euryblepharon, bilateral cleft lip and palate, and
DE   features of ectodermal dysplasia, including hair anomalies, conical
DE   teeth and tooth agenesis. An additional rare manifestation is
DE   imperforate anus. There is considerable phenotypic variability among
DE   affected individuals.
SY   BCDS.
SY   BCD SYNDROME.
SY   Blepharocheilodontic syndrome.
SY   Clefting, ectropion, and conical teeth.
SY   Ectropion, inferior, with cleft lip and/or palate.
SY   Elschnig syndrome.
SY   Lagophthalmia with bilateral cleft lip and palate.
DR   MIM; 119580; phenotype.
DR   MedGen; C1861536.
DR   MeSH; D002972.
DR   MeSH; D005141.
DR   MeSH; D014071.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Blepharocheilodontic syndrome 2.
AC   DI-05104
AR   BCDS2.
DE   A form of blepharocheilodontic syndrome, a rare autosomal dominant
DE   disorder. It is characterized by lower eyelid ectropion, upper eyelid
DE   distichiasis, euryblepharon, bilateral cleft lip and palate, and
DE   features of ectodermal dysplasia, including hair anomalies, conical
DE   teeth and tooth agenesis. An additional rare manifestation is
DE   imperforate anus. There is considerable phenotypic variability among
DE   affected individuals.
DR   MIM; 617681; phenotype.
DR   MedGen; CN479606.
DR   MeSH; D002972.
DR   MeSH; D005141.
DR   MeSH; D014071.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Blepharophimosis, ptosis, and epicanthus inversus syndrome.
AC   DI-01287
AR   BPES.
DE   A disorder characterized by eyelid dysplasia, small palpebral
DE   fissures, drooping eyelids and a skin fold curving in the mediolateral
DE   direction, inferior to the inner canthus. In type I BPSE (BPES1)
DE   eyelid abnormalities are associated with female infertility. Affected
DE   females show an ovarian deficit due to primary amenorrhea or to
DE   premature ovarian failure (POF). In type II BPSE (BPES2) affected
DE   individuals show only the eyelid defects.
SY   Autosomal dominant BPES type I.
SY   Autosomal recessive BPES type I.
SY   Blepharophimosis syndrome.
SY   BPES type I.
SY   BPES type II.
SY   BPES with Duane retraction syndrome.
SY   BPES without ovarian failure.
SY   BPES with ovarian failure.
DR   MIM; 110100; phenotype.
DR   MedGen; C0220663.
DR   MedGen; C1862260.
DR   MedGen; C1862261.
DR   MedGen; C1862262.
DR   MedGen; C1862263.
DR   MedGen; C1862264.
DR   MedGen; C1970106.
DR   MeSH; D012868.
DR   MeSH; D016569.
//
ID   Blepharophimosis-impaired intellectual development syndrome.
AC   DI-06094
AR   BIS.
DE   An autosomal dominant congenital syndrome characterized by
DE   blepharophimosis, facial dysmorphism, global development delay,
DE   delayed motor skills, impaired intellectual development with poor or
DE   absent speech, and behavioral abnormalities in some patients.
DE   Additional variable features include distal skeletal anomalies,
DE   feeding difficulties with poor growth, respiratory infections, and
DE   hypotonia with peripheral spasticity.
DR   MIM; 619293; phenotype.
DR   MedGen; CN296514.
DR   MeSH; D005124.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Blistering, acantholytic, of oral and laryngeal mucosa.
AC   DI-06040
AR   ABOLM.
DE   An autosomal recessive disorder characterized by recurrent, suprabasal
DE   acantholytic blisters in the oral and laryngeal mucosa. Skin,
DE   conjunctival and genital mucosa, nail folds, and nails are unaffected.
DE   Normal structure is observed in the scalp epidermis and hair follicle.
DR   MIM; 619226; phenotype.
DR   MedGen; CN295805.
DR   MeSH; D001768.
DR   MeSH; D009059.
//
ID   Bloom syndrome.
AC   DI-00191
AR   BLM.
DE   An autosomal recessive disorder. It is characterized by proportionate
DE   pre- and postnatal growth deficiency, sun-sensitive telangiectatic
DE   hypo- and hyperpigmented skin, predisposition to malignancy, and
DE   chromosomal instability.
SY   BLS.
SY   BS.
SY   MGRISCE1.
SY   Microcephaly, growth restriction, and increased sister chromatid exchange 1.
DR   MIM; 210900; phenotype.
DR   MedGen; C0005859.
DR   MeSH; D001816.
KW   KW-0242:Dwarfism.
//
ID   Blue cone monochromacy.
AC   DI-02866
AR   BCM.
DE   A rare X-linked congenital stationary cone dysfunction syndrome
DE   characterized by the absence of functional long wavelength-sensitive
DE   and medium wavelength-sensitive cones in the retina. Color
DE   discrimination is severely impaired from birth, and vision is derived
DE   from the remaining preserved blue (S) cones and rod photoreceptors.
DE   BCM typically presents with reduced visual acuity, pendular nystagmus,
DE   and photophobia. Patients often have myopia.
SY   Blue cone monochromatism.
SY   CBBM.
SY   Colorblindness blue-mono-cone-monochromatic type.
DR   MIM; 303700; phenotype.
DR   MedGen; C0339537.
DR   MeSH; D003117.
//
ID   Boerjeson-Forssman-Lehmann syndrome.
AC   DI-00192
AR   BFLS.
DE   An X-linked recessive disorder characterized by moderate to severe
DE   intellectual disability, epilepsy, hypogonadism, hypometabolism,
DE   obesity with marked gynecomastia, swelling of subcutaneous tissue of
DE   the face, narrow palpebral fissure and large but not deformed ears.
SY   BORJ.
SY   Borjeson-Forssman syndrome.
SY   Mental deficiency-epilepsy- endocrine disorders.
DR   MIM; 301900; phenotype.
DR   MedGen; C0265339.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Bohring-Opitz syndrome.
AC   DI-01304
AR   BOPS.
DE   A syndrome characterized by severe intrauterine growth retardation,
DE   poor feeding, profound intellectual disability, trigonocephaly,
DE   prominent metopic suture, exophthalmos, nevus flammeus of the face,
DE   upslanting palpebral fissures, hirsutism, and flexion of the elbows
DE   and wrists with deviation of the wrists and metacarpophalangeal
DE   joints.
SY   Bohring syndrome.
SY   C-like syndrome.
SY   Opitz trigonocephaly-like syndrome.
DR   MIM; 605039; phenotype.
DR   MedGen; C0796232.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Bone fragility with contractures, arterial rupture, and deafness.
AC   DI-01923
AR   BCARD.
DE   An autosomal recessive connective tissue disorder, secondary to lysyl
DE   hydroxylase 3 deficiency. It is characterized by congenital
DE   malformations severely affecting multiple tissues and organs. Clinical
DE   features include growth retardation, craniofacial dysmorphism,
DE   popliteal and cerebral aneurysm, cerebral arterial hemorrhage, skin
DE   blistering and easy bruisability, and osteopenia.
SY   LH3 deficiency.
SY   Lysyl hydroxylase 3 deficiency.
DR   MIM; 612394; phenotype.
DR   MedGen; C2676285.
DR   MeSH; D000015.
DR   MeSH; D003240.
//
ID   Bone marrow failure and diabetes mellitus syndrome.
AC   DI-06507
AR   BMFDMS.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. BMFDMS is an autosomal recessive form characterized by
DE   various degrees of bone marrow failure, ranging from dyserythropoiesis
DE   to bone marrow aplasia, with onset in infancy or early childhood, and
DE   non-autoimmune insulin-dependent diabetes mellitus appearing in the
DE   first or second decades. Many patients show pigmentary skin
DE   abnormalities and short stature.
DR   MIM; 620044; phenotype.
DR   MedGen; CN322047.
DR   MeSH; D000080983.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Bone marrow failure syndrome 1.
AC   DI-03471
AR   BMFS1.
DE   An autosomal dominant disease characterized by aplastic anemia and
DE   myelodysplasia resulting from bone marrow failure. Aplastic anemia is
DE   a form of anemia in which the bone marrow fails to produce adequate
DE   numbers of peripheral blood elements. Myelodysplasia is a clonal
DE   hematopoietic stem cell disorder in which immature cells in the bone
DE   marrow become malformed and dysfunctional.
SY   BMFF.
SY   Familial bone marrow failure.
DR   MIM; 614675; phenotype.
DR   MedGen; C3553438.
DR   MedGen; CN128716.
DR   MeSH; D000080983.
//
ID   Bone marrow failure syndrome 2.
AC   DI-04043
AR   BMFS2.
DE   An autosomal recessive disorder characterized by trilineage bone
DE   marrow failure, bone marrow hypocellularity, learning difficulties,
DE   and microcephaly. Insufficient hematopoiesis results in peripheral
DE   blood cytopenias, affecting myeloid, erythroid and megakaryocyte
DE   lines. Cutaneous features and increased chromosome breakage are not
DE   features.
DR   MIM; 615715; phenotype.
DR   MedGen; C3810350.
DR   MedGen; CN185451.
DR   MeSH; D000080983.
//
ID   Bone marrow failure syndrome 3.
AC   DI-04752
AR   BMFS3.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. BMFS3 is characterized by pancytopenia with onset in
DE   early childhood. Some patients have additional variable non-specific
DE   features, including poor growth, microcephaly, and skin anomalies.
DE   BMFS3 inheritance is autosomal recessive.
DR   MIM; 617052; phenotype.
DR   MedGen; CN237815.
DR   MeSH; D000080983.
//
ID   Bone marrow failure syndrome 4.
AC   DI-05333
AR   BMFS4.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. BMFS4 is characterized by early-onset anemia,
DE   leukopenia, decreased B cells, and developmental aberrations including
DE   facial dysmorphism, mild skeletal anomalies, and neurodevelopmental
DE   delay. BMFS4 inheritance is autosomal recessive.
DR   MIM; 618116; phenotype.
DR   MedGen; CN253834.
DR   MeSH; D000080983.
//
ID   Bone marrow failure syndrome 5.
AC   DI-05371
AR   BMFS5.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. BMFS5 is an autosomal dominant form characterized by
DE   infantile onset of severe red cell anemia requiring transfusion.
DE   Additional features include hypogammaglobulinemia, poor growth with
DE   microcephaly, developmental delay, and seizures.
DR   MIM; 618165; phenotype.
DR   MedGen; CN257755.
DR   MeSH; D000080983.
//
ID   Bone marrow failure syndrome 6.
AC   DI-05796
AR   BMFS6.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. BMFS6 is an autosomal dominant form characterized by
DE   intermittent neutropenia, lymphopenia, or anemia associated with
DE   hypocellular bone marrow, and increased susceptibility to cancer.
DR   MIM; 618849; phenotype.
DR   MedGen; CN280850.
DR   MeSH; D000080983.
//
ID   Boomerang dysplasia.
AC   DI-01289
AR   BOOMD.
DE   A perinatal lethal osteochondrodysplasia characterized by absence or
DE   underossification of the limb bones and vertebrae. Patients manifest
DE   dwarfism with short, bowed, rigid limbs and characteristic facies.
DE   Boomerang dysplasia is distinguished from atelosteogenesis on the
DE   basis of a more severe defect in mineralization, with complete absence
DE   of ossification in some limb elements and vertebral segments.
DR   MIM; 112310; phenotype.
DR   MedGen; C0432201.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Bosch-Boonstra-Schaaf optic atrophy syndrome.
AC   DI-04111
AR   BBSOAS.
DE   An autosomal dominant disorder characterized by optic atrophy
DE   associated with developmental delay and intellectual disability. Most
DE   patients also have evidence of cerebral visual impairment.
DR   MIM; 615722; phenotype.
DR   MedGen; C3810363.
DR   MedGen; CN185873.
DR   MeSH; D029241.
//
ID   Bosley-Salih-Alorainy syndrome.
AC   DI-01290
AR   BSAS.
DE   A disease characterized by horizontal gaze abnormalities, deafness,
DE   facial weakness, vascular malformations of the internal carotid
DE   arteries and cardiac outflow trac. Some patients manifest intellectual
DE   disability and autism spectrum disorder. Affected individuals do not
DE   suffer from central hypoventilation.
DR   MIM; 601536; phenotype.
DR   MedGen; C1832216.
DR   MeSH; D006319.
DR   MeSH; D009421.
//
ID   Bosma arhinia microphthalmia syndrome.
AC   DI-04955
AR   BAMS.
DE   An autosomal dominant syndrome characterized by severe hypoplasia of
DE   the nose, palatal abnormalities, hypoplasia of the eyes, sensory
DE   abnormalities of taste and smell, hypogonadotropic hypogonadism with
DE   cryptorchidism, and normal intelligence.
SY   Arhinia, choanal atresia, microphthalmia, and hypogonadotropic  hypogonadism.
SY   Arhinia choanal atresia microphthalmia.
SY   Bosma Henkin Christiansen syndrome.
SY   Congenital absence of nose and anterior nasopharynx.
DR   MIM; 603457; phenotype.
DR   MedGen; C1863878.
DR   MeSH; D000013.
KW   KW-0956:Kallmann syndrome.
KW   KW-1013:Microphthalmia.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Bothnia retinal dystrophy.
AC   DI-00193
AR   BRD.
DE   A type of retinitis punctata albescens. Affected individuals show
DE   night blindness from early childhood with features consistent with
DE   retinitis punctata albescens and macular degeneration.
SY   Vasterbotten dystrophy.
DR   MIM; 607475; phenotype.
DR   MedGen; C1843816.
DR   MeSH; D058499.
//
ID   Boucher-Neuhauser syndrome.
AC   DI-04065
AR   BNHS.
DE   An autosomal recessive disorder characterized by spinocerebellar
DE   ataxia, hypogonadotropic hypogonadism, and visual impairment due to
DE   chorioretinal dystrophy. The age at onset is variable, but most
DE   patients develop 1 or more symptoms in the first decade of life.
DE   Chorioretinal dystrophy may not always be present.
SY   Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
DR   MIM; 215470; phenotype.
DR   MedGen; C1859093.
DR   MeSH; D007006.
DR   MeSH; D013132.
DR   MeSH; D058499.
KW   KW-0523:Neurodegeneration.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Boudin-Mortier syndrome.
AC   DI-06231
AR   BOMOS.
DE   An autosomal recessive disorder characterized by tall stature, long
DE   digits, and extra epiphyses in the hands and feet. In addition, some
DE   patients show joint hypermobility and dilation of the aortic root.
SY   Tall stature and long digits with extra epiphyses.
DR   MIM; 619543; phenotype.
DR   MedGen; CN300502.
DR   MeSH; D006130.
DR   MeSH; D017880.
//
ID   Bowen-Conradi syndrome.
AC   DI-02492
AR   BWCNS.
DE   A combination of malformations characterized in newborns by low birth
DE   weight, microcephaly, mild joint restriction, a prominent nose,
DE   micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The
DE   syndrome is transmitted as an autosomal recessive trait. The prognosis
DE   is poor, with all infants dying within the first few months of life.
SY   Bowen syndrome Hutterite type.
DR   MIM; 211180; phenotype.
DR   MedGen; C1859405.
DR   MeSH; D005317.
//
ID   Brachycephaly, trichomegaly, and developmental delay.
AC   DI-04991
AR   BTDD.
DE   An autosomal dominant developmental disorder characterized by
DE   brachycephaly, ciliary trichomegaly, dysmorphic features of the face
DE   and hands, hearing loss, and developmental delay with short stature.
DE   Intellectual disability and autism spectrum disorder may be present in
DE   some patients.
SY   MacInnes syndrome.
SY   MCINS.
DR   MIM; 617412; phenotype.
DR   MedGen; CN241840.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
//
ID   Brachydactyly A1.
AC   DI-00194
AR   BDA1.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type A1 is characterized by middle phalanges of all the
DE   digits rudimentary or fused with the terminal phalanges. The proximal
DE   phalanges of the thumbs and big toes are short. BDA1 inheritance is
DE   autosomal dominant.
SY   Farabee-type brachydactyly.
DR   MIM; 112500; phenotype.
DR   MedGen; C1862151.
DR   MeSH; D059327.
//
ID   Brachydactyly A1, C.
AC   DI-03654
AR   BDA1C.
DE   A form of brachydactyly type A1. Brachydactyly defines a group of
DE   inherited malformations characterized by shortening of the digits due
DE   to abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type A1 is characterized by middle phalanges of all the
DE   digits rudimentary or fused with the terminal phalanges. The proximal
DE   phalanges of the thumbs and big toes are short. BDA1C inheritance can
DE   be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C
DE   has a milder phenotype.
SY   Brachydactyly A1C.
SY   Brachydactyly type A1 C.
DR   MIM; 615072; phenotype.
DR   MedGen; C3554446.
DR   MedGen; CN165597.
DR   MeSH; D059327.
//
ID   Brachydactyly A1, D.
AC   DI-04670
AR   BDA1D.
DE   A form of brachydactyly type A1. Brachydactyly defines a group of
DE   inherited malformations characterized by shortening of the digits due
DE   to abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type A1 is characterized by middle phalanges of all the
DE   digits rudimentary or fused with the terminal phalanges. The proximal
DE   phalanges of the thumbs and big toes are short. BDA1D inheritance is
DE   autosomal dominant.
SY   Brachydactyly, type A1, D.
DR   MIM; 616849; phenotype.
DR   MedGen; CN235465.
DR   MeSH; D059327.
//
ID   Brachydactyly A2.
AC   DI-00195
AR   BDA2.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals. In
DE   brachydactyly type A2 shortening of the middle phalanges is confined
DE   to the index finger and the second toe, all other digits being more or
DE   less normal. Because of a rhomboid or triangular shape of the affected
DE   middle phalanx, the end of the second finger usually deviates
DE   radially.
SY   Brachymesophalangy II.
SY   Mohr-Wriedt type brachydactyly.
DR   MIM; 112600; phenotype.
DR   MedGen; C1832702.
DR   MeSH; D059327.
//
ID   Brachydactyly B1.
AC   DI-00196
AR   BDB1.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals. In
DE   brachydactyly type B1 the middle phalanges are short but in addition
DE   the terminal phalanges are rudimentary or absent. Both fingers and
DE   toes are affected. The thumbs and big toes are usually deformed.
DE   Symphalangism is also a feature.
SY   BDB.
SY   Brachydactyly type B.
DR   MIM; 113000; phenotype.
DR   MedGen; C1862112.
DR   MeSH; D059327.
//
ID   Brachydactyly B2.
AC   DI-02844
AR   BDB2.
DE   A form of brachydactyly characterized by hypoplasia/aplasia of distal
DE   phalanges in combination with distal symphalangism, fusion of
DE   carpal/tarsal bones and partial cutaneous syndactyly.
DR   MIM; 611377; phenotype.
DR   MedGen; C1969652.
DR   MeSH; D059327.
//
ID   Brachydactyly C.
AC   DI-00197
AR   BDC.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type C is characterized by deformity of the middle and
DE   proximal phalanges of the second and third fingers, sometimes with
DE   hypersegmentation of the proximal phalanx. The ring finger may be
DE   essentially normal and project beyond the others.
SY   Brachydactyly Haws type.
DR   MIM; 113100; phenotype.
DR   MedGen; C1862103.
DR   MeSH; D059327.
//
ID   Brachydactyly D.
AC   DI-00198
AR   BDD.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type D is characterized by short and broad terminal
DE   phalanges of the thumbs and big toes.
SY   Stub thumb.
DR   MIM; 113200; phenotype.
DR   MedGen; C0220664.
DR   MeSH; D059327.
//
ID   Brachydactyly E1.
AC   DI-00199
AR   BDE1.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type E is characterized by shortening of the fingers
DE   mainly in the metacarpals and metatarsals. Wide variability in the
DE   number of digits affected occurs from person to person, even in the
DE   same family. Some individuals are moderately short of stature.
DE   Brachydactyly type E1 is characterized by shortening limited to fourth
DE   metacarpals and/or metatarsals.
SY   BDE.
SY   Brachydactyly type E.
DR   MIM; 113300; phenotype.
DR   MedGen; C1862102.
DR   MeSH; D059327.
//
ID   Brachydactyly E2.
AC   DI-02711
AR   BDE2.
DE   A form of brachydactyly. Brachydactyly defines a group of inherited
DE   malformations characterized by shortening of the digits due to
DE   abnormal development of the phalanges and/or the metacarpals.
DE   Brachydactyly type E is characterized by shortening of the fingers
DE   mainly in the metacarpals and metatarsals. Wide variability in the
DE   number of digits affected occurs from person to person, even in the
DE   same family. Some individuals are moderately short of stature. In
DE   brachydactyly type E2 variable combinations of metacarpals are
DE   involved, with shortening also of the first and third distal and the
DE   second and fifth middle phalanges.
DR   MIM; 613382; phenotype.
DR   MedGen; C3150644.
DR   MeSH; D059327.
//
ID   Brachydactyly-syndactyly syndrome.
AC   DI-01291
AR   BDSD.
DE   A disease characterized by generalized shortening of the hands and
DE   feet, broad and short distal phalanges of the thumbs, and cutaneous
DE   syndactyly of toes 2 and 3. The limb phenotypes observed in this
DE   syndrome overlap those of brachydactyly types A4, D, E and syndactyly
DE   type 1.
DR   MIM; 610713; phenotype.
DR   MedGen; C1853137.
DR   MeSH; D013576.
DR   MeSH; D059327.
//
ID   Brachydactyly-syndactyly-oligodactyly syndrome.
AC   DI-04740
AR   BDSDO.
DE   A syndrome characterized by a complex brachydactyly-syndactyly-
DE   oligodactyly phenotype. Limb anomalies include reduced number of
DE   digits that are severely shortened, camptodactyly, syndactyly, absence
DE   of terminal phalanges of the thumbs, and absence of nails of the
DE   thumbs and toes.
DR   MIM; 610713; phenotype.
DR   MedGen; C1853137.
DR   MeSH; D013576.
DR   MeSH; D059327.
//
ID   Brachyolmia 3.
AC   DI-01292
AR   BCYM3.
DE   A form of brachyolmia, a clinically and genetically heterogeneous
DE   skeletal dysplasia primarily affecting the spine and characterized by
DE   a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal
DE   dominant form with severe scoliosis with or without kyphosis, and
DE   flattened irregular cervical vertebrae.
SY   Autosomal dominant brachyolmia.
SY   Brachyrachia.
DR   MIM; 113500; phenotype.
DR   MedGen; C0432227.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Brachyolmia type 4 with mild epiphyseal and metaphyseal changes.
AC   DI-02331
AR   BCYM4.
DE   A form of brachyolmia, a clinically and genetically heterogeneous
DE   skeletal dysplasia primarily affecting the spine and characterized by
DE   a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal
DE   recessive form with mild epiphyseal and metaphyseal changes. Clinical
DE   features include short stature evidenced at birth, short and bowed
DE   lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait,
DE   enlarged knee joints. Some BCYM4 patients may manifest premature
DE   pubarche and hyperandrogenism associated with skeletal dysplasia and
DE   short stature.
SY   SEMD Pakistani type.
SY   Spondylodysplasia and premature pubarche.
SY   Spondylometaepiphyseal dysplasia Pakistani type.
DR   MIM; 612847; phenotype.
DR   MedGen; C2748515.
DR   MedGen; C2748516.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Braddock-Carey syndrome 2.
AC   DI-06453
AR   BRDCS2.
DE   An autosomal recessive disease characterized by microcephaly,
DE   congenital thrombocytopenia, and facial dysmorphisms including Pierre-
DE   Robin sequence.
DR   MIM; 619981; phenotype.
DR   MedGen; CN315827.
DR   MeSH; D010855.
DR   MeSH; D019465.
//
ID   Brain abnormalities, neurodegeneration, and dysosteosclerosis.
AC   DI-05595
AR   BANDDOS.
DE   An autosomal recessive disease with variable manifestations. Main
DE   features are brain malformations with calcifying leukoencephalopathy,
DE   progressive neurodegeneration, and bone sclerotic features. The age at
DE   onset ranges from infancy to early adulthood. Neurologic features
DE   include loss of previous motor and language skills, cognitive
DE   impairment, spasticity, and focal seizures. Brain imaging shows
DE   periventricular white matter abnormalities and calcifications, large
DE   cisterna magna or Dandy-Walker malformation, and sometimes agenesis of
DE   the corpus callosum.
DR   MIM; 618476; phenotype.
DR   MedGen; CN260170.
DR   MeSH; D010026.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Brain malformations with or without urinary tract defects.
AC   DI-04979
AR   BRMUTD.
DE   A syndrome characterized by corpus callosum hypoplasia or agenesis,
DE   hydrocephalus or ventricular enlargement, developmental delay, and
DE   urinary tract defects.
DR   MIM; 613735; phenotype.
DR   MedGen; C3151036.
DR   MeSH; D001927.
DR   MeSH; D007674.
//
ID   Brain small vessel disease 1 with or without ocular anomalies.
AC   DI-02182
AR   BSVD1.
DE   An autosomal dominant cerebrovascular disorder with variable
DE   manifestations reflecting the location and severity of the vascular
DE   defect. BSVD1 features include cerebral hemorrage, unilateral fluid-
DE   filled cysts or cavities within the cerebral hemispheres,
DE   leukoencephalopathy, hemiplegia, seizures, intellectual disability,
DE   and facial paresis. Affected individuals may manifest variable visual
DE   defects and ocular anomalies.
SY   ADT1P.
SY   Brain small vessel disease with Axenfeld-Rieger anomaly.
SY   Brain small vessel disease with hemorrhage.
SY   Gould syndrome 1.
SY   Hemiplegia infantile with porencephaly.
SY   Leukoencephalopathy with Axenfeld-Rieger anomaly.
SY   POREN1.
SY   Porencephaly 1.
SY   Porencephaly type 1.
SY   Porencephaly type 1 autosomal dominant.
SY   Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant.
SY   T1P.
DR   MIM; 175780; phenotype.
DR   MedGen; C1867983.
DR   MeSH; D001927.
//
ID   Brain small vessel disease 2.
AC   DI-03378
AR   BSVD2.
DE   An autosomal dominant cerebrovascular disorder with variable
DE   manifestations reflecting the location and severity of the vascular
DE   defect. BSVD2 features include intracranial hemorrage, fluid-filled
DE   cysts or cavities within the cerebral hemispheres, delayed psychomotor
DE   development, hemiplegia, spasticity and seizures.
SY   Gould syndrome 2.
SY   POREN2.
SY   Porencephaly 2.
DR   MIM; 614483; phenotype.
DR   MedGen; C3280970.
DR   MeSH; D001927.
//
ID   Brain small vessel disease 3.
AC   DI-05511
AR   BSVD3.
DE   An autosomal recessive form of brain small vessel disease, a
DE   cerebrovascular disorder with variable manifestations reflecting the
DE   location and severity of the vascular defect. BSVD3 patients may have
DE   disease onset in utero or early infancy with subsequent global
DE   developmental delay, spasticity, and porencephaly on brain imaging.
DE   Other patients may have normal or mildly delayed development with
DE   sudden onset of intracranial hemorrhage causing acute neurologic
DE   deterioration.
DR   MIM; 618360; phenotype.
DR   MedGen; CN258256.
DR   MeSH; D001927.
//
ID   Branched-chain ketoacid dehydrogenase kinase deficiency.
AC   DI-03567
AR   BCKDKD.
DE   A metabolic disorder characterized by autism, epilepsy, intellectual
DE   disability, and reduced branched-chain amino acids.
DR   MIM; 614923; phenotype.
DR   MedGen; C3554078.
DR   MedGen; CN160491.
DR   MeSH; D001321.
DR   MeSH; D004827.
DR   MeSH; D008607.
DR   MeSH; D020739.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1269:Autism.
//
ID   Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.
AC   DI-06584
AR   BCAHH.
DE   An autosomal dominant disorder characterized by choanal atresia,
DE   athelia or hypoplastic nipples, branchial sinus abnormalities, neck
DE   pits, lacrimal duct anomalies, hearing loss, external ear
DE   malformations, delayed or absent pubertal development, and thyroid
DE   abnormalities. Additional features may include developmental delay,
DE   growth failure and short stature.
DR   MIM; 620186; phenotype.
DR   MedGen; CN322761.
DR   MeSH; D000015.
DR   MeSH; D003409.
KW   KW-0209:Deafness.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Branchiooculofacial syndrome.
AC   DI-01294
AR   BOFS.
DE   A syndrome characterized by growth retardation, bilateral branchial
DE   sinus defects with hemangiomatous, scarred skin, cleft lip with or
DE   without cleft palate, pseudocleft of the upper lip, nasolacrimal duct
DE   obstruction, low set ears with posterior rotation, a malformed,
DE   asymmetrical nose with a broad bridge and flattened tip, conductive or
DE   sensorineural deafness, ocular and renal anomalies.
SY   BOF syndrome.
SY   Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging.
SY   Branchio-oculo-facial syndrome.
SY   Hemangiomatous branchial clefts-lip pseudocleft syndrome.
SY   Lip pseudocleft-hemangiomatous branchial cyst syndrome.
DR   MIM; 113620; phenotype.
DR   MedGen; C0376524.
DR   MeSH; D019280.
//
ID   Branchiootic syndrome 1.
AC   DI-01295
AR   BOS1.
DE   A syndrome characterized by usually bilateral branchial cleft fistulas
DE   or cysts, sensorineural and/or conductive hearing loss, pre-auricular
DE   pits, and structural defects of the outer, middle or inner ear. Otic
DE   defects include malformed and hypoplastic pinnae, a narrowed external
DE   ear canal, bulbous internal auditory canal, stapes fixation, malformed
DE   and hypoplastic cochlea. Branchial and otic anomalies overlap with
DE   those seen in individuals with the branchiootorenal syndrome. However
DE   renal anomalies are absent in branchiootic syndrome patients.
SY   BO syndrome 1.
SY   Branchio-otic dysplasia 1.
SY   Branchio-otic syndrome 1.
DR   MIM; 602588; phenotype.
DR   MedGen; C1865143.
DR   MeSH; D003638.
KW   KW-0209:Deafness.
//
ID   Branchiootic syndrome 3.
AC   DI-01296
AR   BOS3.
DE   A syndrome characterized by usually bilateral branchial cleft fistulas
DE   or cysts, sensorineural and/or conductive hearing loss, pre-auricular
DE   pits, and structural defects of the outer, middle or inner ear. Otic
DE   defects include malformed and hypoplastic pinnae, a narrowed external
DE   ear canal, bulbous internal auditory canal, stapes fixation, malformed
DE   and hypoplastic cochlea. Branchial and otic anomalies overlap with
DE   those seen in individuals with the branchiootorenal syndrome. However
DE   renal anomalies are absent in branchiootic syndrome patients.
SY   BO syndrome 3.
SY   Branchio-otic dysplasia 3.
SY   Branchio-otic syndrome 3.
DR   MIM; 608389; phenotype.
DR   MedGen; C1842124.
DR   MeSH; D003638.
KW   KW-0209:Deafness.
//
ID   Branchiootorenal syndrome 1.
AC   DI-01297
AR   BOR1.
DE   A syndrome characterized by branchial cleft fistulas or cysts,
DE   sensorineural and/or conductive hearing loss, pre-auricular pits,
DE   structural defects of the outer, middle or inner ear, and renal
DE   malformations.
SY   BOR syndrome 1.
SY   Branchiootorenal dysplasia 1.
SY   Branchio-oto-renal dysplasia 1.
SY   Branchio-oto-renal syndrome type 1.
SY   Melnick-Fraser syndrome.
DR   MIM; 113650; phenotype.
DR   MedGen; C2936782.
DR   MeSH; D019280.
KW   KW-0209:Deafness.
//
ID   Branchiootorenal syndrome 2.
AC   DI-01298
AR   BOR2.
DE   A syndrome characterized by branchial cleft fistulas or cysts,
DE   sensorineural and/or conductive hearing loss, pre-auricular pits,
DE   structural defects of the outer, middle or inner ear, and renal
DE   malformations.
SY   BOR syndrome 2.
SY   Branchiootorenal dysplasia 2.
SY   Branchio-oto-renal dysplasia 2.
SY   Branchio-oto-renal syndrome type 2.
DR   MIM; 610896; phenotype.
DR   MedGen; C1970479.
DR   MeSH; D019280.
KW   KW-0209:Deafness.
//
ID   Breast cancer.
AC   DI-02602
AR   BC.
DE   A common malignancy originating from breast epithelial tissue. Breast
DE   neoplasms can be distinguished by their histologic pattern. Invasive
DE   ductal carcinoma is by far the most common type. Breast cancer is
DE   etiologically and genetically heterogeneous. Important genetic factors
DE   have been indicated by familial occurrence and bilateral involvement.
DE   Mutations at more than one locus can be involved in different families
DE   or even in the same case.
SY   Breast cancer familial.
SY   Breast cancer familial male.
SY   Breast carcinoma.
SY   Mammary carcinoma.
DR   MIM; 114480; phenotype.
DR   MedGen; C0006142.
DR   MedGen; C1861906.
DR   MeSH; D001943.
//
ID   Breast cancer, lobular.
AC   DI-03803
AR   LBC.
DE   A type of breast cancer that begins in the milk-producing glands
DE   (lobules) of the breast.
DR   MIM; 137215; phenotype.
DR   MedGen; C3549742.
DR   MedGen; CN178073.
DR   MeSH; D001943.
//
ID   Breast-ovarian cancer, familial, 1.
AC   DI-01559
AR   BROVCA1.
DE   A condition associated with familial predisposition to cancer of the
DE   breast and ovaries. Characteristic features in affected families are
DE   an early age of onset of breast cancer (often before age 50),
DE   increased chance of bilateral cancers (cancer that develop in both
DE   breasts, or both ovaries, independently), frequent occurrence of
DE   breast cancer among men, increased incidence of tumors of other
DE   specific organs, such as the prostate.
SY   Breast cancer familial 1.
SY   Ovarian cancer familial 1.
DR   MIM; 604370; phenotype.
DR   MedGen; C2676676.
DR   MedGen; C2676677.
DR   MedGen; C2676678.
DR   MeSH; D001943.
DR   MeSH; D010051.
//
ID   Breast-ovarian cancer, familial, 2.
AC   DI-02603
AR   BROVCA2.
DE   A condition associated with familial predisposition to cancer of the
DE   breast and ovaries. Characteristic features in affected families are
DE   an early age of onset of breast cancer (often before age 50),
DE   increased chance of bilateral cancers (cancer that develop in both
DE   breasts, or both ovaries, independently), frequent occurrence of
DE   breast cancer among men, increased incidence of tumors of other
DE   specific organs, such as the prostate.
SY   Breast cancer familial 2.
SY   Ovarian cancer familial 2.
DR   MIM; 612555; phenotype.
DR   MedGen; C2675520.
DR   MedGen; C2675521.
DR   MedGen; C2675522.
DR   MeSH; D001943.
DR   MeSH; D010051.
//
ID   Breast-ovarian cancer, familial, 3.
AC   DI-02774
AR   BROVCA3.
DE   A condition associated with familial predisposition to cancer of the
DE   breast and ovaries. Characteristic features in affected families are
DE   an early age of onset of breast cancer (often before age 50),
DE   increased chance of bilateral cancers (cancer that develop in both
DE   breasts, or both ovaries, independently), frequent occurrence of
DE   breast cancer among men, increased incidence of tumors of other
DE   specific organs, such as the prostate.
SY   Breast cancer familial 3.
SY   Ovarian cancer familial 3.
DR   MIM; 613399; phenotype.
DR   MedGen; C3150659.
DR   MedGen; C3150660.
DR   MedGen; C3150661.
DR   MeSH; D001943.
DR   MeSH; D010051.
//
ID   Breast-ovarian cancer, familial, 4.
AC   DI-03288
AR   BROVCA4.
DE   A condition associated with familial predisposition to cancer of the
DE   breast and ovaries. Characteristic features in affected families are
DE   an early age of onset of breast cancer (often before age 50),
DE   increased chance of bilateral cancers (cancer that develop in both
DE   breasts, or both ovaries, independently), frequent occurrence of
DE   breast cancer among men, increased incidence of tumors of other
DE   specific organs, such as the prostate.
SY   Breast cancer familial 4.
SY   Ovarian cancer familial 4.
DR   MIM; 614291; phenotype.
DR   MedGen; C3280345.
DR   MedGen; CN117842.
DR   MeSH; D001943.
DR   MeSH; D010051.
//
ID   Breast-ovarian cancer, familial, 5.
AC   DI-06717
AR   BROVCA5.
DE   A condition associated with familial predisposition to cancer of the
DE   breast and ovaries. Characteristic features in affected families are
DE   an early age of onset of breast cancer (often before age 50),
DE   increased chance of bilateral cancers (cancer that develop in both
DE   breasts, or both ovaries, independently), frequent occurrence of
DE   breast cancer among men, increased incidence of tumors of other
DE   specific organs, such as the prostate.
DR   MIM; 620442; phenotype.
DR   MedGen; CN372367.
DR   MeSH; D001943.
DR   MeSH; D010051.
//
ID   Brittle cornea syndrome 1.
AC   DI-00441
AR   BCS1.
DE   A disorder characterized by extreme corneal thinning resulting in
DE   corneal rupture after minor trauma, blue sclerae, keratoconus or
DE   keratoglobus, hyperelasticity of the skin, and hypermobility of the
DE   joints. It shares some features with, but is much less severe than,
DE   the ocular form of Ehlers-Danlos syndrome (EDS6).
SY   Corneal fragility keratoglobus blue sclerae joint hyperextensibility.
SY   Dysgenesis mesodermalis corneae et sclerae.
SY   EDS6B formerly.
SY   Ehlers-Danlos syndrome type VIB formerly.
SY   Fragilitas oculi with joint hyperextensibility.
DR   MIM; 229200; phenotype.
DR   MedGen; C0268344.
DR   MeSH; D004535.
//
ID   Brittle cornea syndrome 2.
AC   DI-03176
AR   BCS2.
DE   A disorder characterized by extreme corneal thinning resulting in
DE   corneal rupture after minor trauma, blue sclerae, keratoconus or
DE   keratoglobus, hyperelasticity of the skin, and hypermobile joints.
DR   MIM; 614170; phenotype.
DR   MedGen; C3280011.
DR   MeSH; D004535.
//
ID   Brody disease.
AC   DI-00200
AR   BROD.
DE   An autosomal recessive muscular disorder characterized by exercise-
DE   induced muscle stiffness and cramps primarily affecting the arms,
DE   legs, and eyelids, although more generalized muscle involvement may
DE   also occur.
SY   Brody myopathy.
DR   MIM; 601003; phenotype.
DR   MedGen; C1832918.
DR   MeSH; D009120.
//
ID   Bronchiectasis with or without elevated sweat chloride 1.
AC   DI-02489
AR   BESC1.
DE   A debilitating respiratory disease characterized by chronic, abnormal
DE   dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE   the absence of known causes of bronchiectasis (cystic fibrosis,
DE   autoimmune diseases, ciliary dyskinesia, common variable
DE   immunodeficiency, foreign body obstruction). Clinical features include
DE   sub-normal lung function, sinopulmonary infections, chronic productive
DE   cough, excessive sputum production, and elevated sweat chloride in
DE   some cases.
SY   Cystic fibrosis-like syndrome.
DR   MIM; 211400; phenotype.
DR   MedGen; C0006267.
DR   MedGen; C2749757.
DR   MeSH; D001987.
//
ID   Bronchiectasis with or without elevated sweat chloride 2.
AC   DI-02475
AR   BESC2.
DE   A debilitating respiratory disease characterized by chronic, abnormal
DE   dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE   the absence of known causes of bronchiectasis (cystic fibrosis,
DE   autoimmune diseases, ciliary dyskinesia, common variable
DE   immunodeficiency, foreign body obstruction). Clinical features include
DE   sub-normal lung function, sinopulmonary infections, chronic productive
DE   cough, excessive sputum production, and elevated sweat chloride in
DE   some cases.
SY   Cystic fibrosis-like syndrome.
DR   MIM; 613021; phenotype.
DR   MedGen; C2751666.
DR   MeSH; D001987.
//
ID   Bronchiectasis with or without elevated sweat chloride 3.
AC   DI-02488
AR   BESC3.
DE   A debilitating respiratory disease characterized by chronic, abnormal
DE   dilatation of the bronchi and other cystic fibrosis-like symptoms in
DE   the absence of known causes of bronchiectasis (cystic fibrosis,
DE   autoimmune diseases, ciliary dyskinesia, common variable
DE   immunodeficiency, foreign body obstruction). Clinical features include
DE   sub-normal lung function, sinopulmonary infections, chronic productive
DE   cough, excessive sputum production, and elevated sweat chloride in
DE   some cases.
SY   Cystic fibrosis-like syndrome.
DR   MIM; 613071; phenotype.
DR   MedGen; C2751324.
DR   MeSH; D001987.
//
ID   Brooke-Spiegler syndrome.
AC   DI-00201
AR   BRSS.
DE   An autosomal dominant disorder characterized by the appearance of
DE   multiple skin appendage tumors such as cylindroma, trichoepithelioma,
DE   and spiradenoma. These tumors are typically located in the head and
DE   neck region, appear in early adulthood, and gradually increase in size
DE   and number throughout life.
SY   BSS.
SY   SBS.
SY   Spiegler-Brooke syndrome.
DR   MIM; 605041; phenotype.
DR   MedGen; C1857941.
DR   MeSH; D018280.
//
ID   Brown-Vialetto-Van Laere syndrome 1.
AC   DI-02727
AR   BVVLS1.
DE   A rare neurologic disorder characterized by sensorineural hearing loss
DE   and a variety of cranial nerve palsies, which develop over a
DE   relatively short period of time in a previously healthy individual.
DE   Sensorineural hearing loss may precede the neurological signs. The
DE   course is invariably progressive, but the rate of decline is variable
DE   within and between families. With disease evolution, long tract signs,
DE   lower motor neuron signs, cerebellar ataxia and lower cranial nerve
DE   (III-VI) palsies develop, giving rise to a complex picture resembling
DE   amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory
DE   compromise are some of the most distressing features, leading to
DE   recurrent chest infections and respiratory failure, which are often
DE   the cause of patients' demise.
SY   Bulbar palsy progressive with sensorineural deafness.
SY   Pontobulbar palsy with deafness.
DR   MIM; 211530; phenotype.
DR   MedGen; C0796274.
DR   MeSH; D006319.
DR   MeSH; D010244.
KW   KW-0209:Deafness.
//
ID   Brown-Vialetto-Van Laere syndrome 2.
AC   DI-03494
AR   BVVLS2.
DE   An autosomal recessive progressive neurologic disorder characterized
DE   by early childhood onset of sensorineural deafness, bulbar
DE   dysfunction, and severe diffuse muscle weakness and wasting resulting
DE   in respiratory insufficiency and loss of independent ambulation.
DE   Because it results from a defect in riboflavin metabolism, some
DE   patients may benefit from high-dose riboflavin supplementation.
SY   Riboflavin transporter deficiency, type 2.
SY   RTD2.
DR   MIM; 614707; phenotype.
DR   MedGen; C3553538.
DR   MedGen; CN130353.
DR   MeSH; D006319.
DR   MeSH; D010244.
KW   KW-0209:Deafness.
//
ID   Bruck syndrome 1.
AC   DI-03760
AR   BRKS1.
DE   A disease characterized by generalized osteopenia, congenital joint
DE   contractures, fragile bones with onset of fractures in infancy or
DE   early childhood, short stature, severe limb deformity, progressive
DE   scoliosis, and pterygia.
SY   Arthrogryposis-like disorder.
SY   Kuskokwim disease.
DR   MIM; 259450; phenotype.
DR   MedGen; C1850168.
DR   MeSH; D001176.
DR   MeSH; D010009.
//
ID   Bruck syndrome 2.
AC   DI-01299
AR   BRKS2.
DE   An autosomal recessive disease characterized by generalized
DE   osteopenia, congenital joint contractures, fragile bones with onset of
DE   fractures in infancy or early childhood, short stature, severe limb
DE   deformity, progressive scoliosis, and pterygia. It is distinguished
DE   from osteogenesis imperfecta by the absence of hearing loss and
DE   dentinogenesis imperfecta, and by the presence of clubfoot and
DE   congenital joint limitations.
SY   Osteogenesis imperfecta with congenital joint contractures.
DR   MIM; 609220; phenotype.
DR   MedGen; C1836602.
DR   MeSH; D001176.
DR   MeSH; D010009.
//
ID   Brugada syndrome 1.
AC   DI-00202
AR   BRGDA1.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 601144; phenotype.
DR   MedGen; C1142166.
DR   MedGen; CN029323.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 2.
AC   DI-00203
AR   BRGDA2.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 611777; phenotype.
DR   MedGen; C2673193.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 3.
AC   DI-00204
AR   BRGDA3.
DE   A heart disease characterized by the association of Brugada syndrome
DE   with shortened QT intervals. Brugada syndrome is a tachyarrhythmia
DE   characterized by right bundle branch block and ST segment elevation on
DE   an electrocardiogram (ECG). It can cause the ventricles to beat so
DE   fast that the blood is prevented from circulating efficiently in the
DE   body. When this situation occurs, the individual will faint and may
DE   die in a few minutes if the heart is not reset.
DR   MIM; 611875; phenotype.
DR   MedGen; C2678478.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 4.
AC   DI-00205
AR   BRGDA4.
DE   A heart disease characterized by the association of Brugada syndrome
DE   with shortened QT intervals. Brugada syndrome is a tachyarrhythmia
DE   characterized by right bundle branch block and ST segment elevation on
DE   an electrocardiogram (ECG). It can cause the ventricles to beat so
DE   fast that the blood is prevented from circulating efficiently in the
DE   body. When this situation occurs, the individual will faint and may
DE   die in a few minutes if the heart is not reset.
DR   MIM; 611876; phenotype.
DR   MedGen; C2678477.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 5.
AC   DI-02502
AR   BRGDA5.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 612838; phenotype.
DR   MedGen; C2748541.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 6.
AC   DI-02501
AR   BRGDA6.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 613119; phenotype.
DR   MedGen; C2751089.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 7.
AC   DI-02503
AR   BRGDA7.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 613120; phenotype.
DR   MedGen; C2751088.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 8.
AC   DI-02557
AR   BRGDA8.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 613123; phenotype.
DR   MedGen; C2751083.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brugada syndrome 9.
AC   DI-04444
AR   BRGDA9.
DE   A tachyarrhythmia characterized by right bundle branch block and ST
DE   segment elevation on an electrocardiogram (ECG). It can cause the
DE   ventricles to beat so fast that the blood is prevented from
DE   circulating efficiently in the body. When this situation occurs, the
DE   individual will faint and may die in a few minutes if the heart is not
DE   reset.
DR   MIM; 616399; phenotype.
DR   MedGen; CN231147.
DR   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brunet-Wagner neurodevelopmental syndrome.
AC   DI-06308
AR   BRUWAG.
DE   An autosomal recessive disorder characterized by severe developmental
DE   delay, intellectual disability, poor or absent speech, infantile
DE   hypotonia, inability to walk, behavioral abnormalities, and dysmorphic
DE   features.
DR   MIM; 619690; phenotype.
DR   MedGen; CN305745.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Brunner syndrome.
AC   DI-00206
AR   BRNRS.
DE   A form of X-linked non-dysmorphic mild intellectual disability. Male
DE   patients are affected by borderline intellectual deficit and exhibit
DE   abnormal behavior, including disturbed regulation of impulsive
DE   aggression. Obligate female carriers have normal intelligence and
DE   behavior.
SY   Susceptibility to antisocial behavior.
DR   MIM; 300615; phenotype.
DR   MedGen; C0796275.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Bryant-Li-Bhoj neurodevelopmental syndrome 1.
AC   DI-06327
AR   BRYLIB1.
DE   An autosomal dominant disorder predominantly characterized by global
DE   developmental delay, impaired intellectual development, poor or absent
DE   speech, and delayed motor milestones. Clinical manifestations are
DE   highly variable, including abnormal head shape, dysmorphic facial
DE   features, oculomotor abnormalities, feeding problems, and non-specific
DE   brain imaging abnormalities. Additional features may include hearing
DE   loss, seizures, short stature, and mild skeletal defects.
DR   MIM; 619720; phenotype.
DR   MedGen; CN306229.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Bryant-Li-Bhoj neurodevelopmental syndrome 2.
AC   DI-06328
AR   BRYLIB2.
DE   An autosomal dominant disorder predominantly characterized by global
DE   developmental delay, impaired intellectual development, poor or absent
DE   speech, and delayed motor milestones. Clinical manifestations are
DE   highly variable, including abnormal head shape, dysmorphic facial
DE   features, oculomotor abnormalities, feeding problems, and non-specific
DE   brain imaging abnormalities. Additional features may include hearing
DE   loss, seizures, short stature, and mild skeletal defects.
DR   MIM; 619721; phenotype.
DR   MedGen; CN306230.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Budd-Chiari syndrome.
AC   DI-01300
AR   BDCHS.
DE   A syndrome caused by obstruction of hepatic venous outflow involving
DE   either the hepatic veins or the terminal segment of the inferior vena
DE   cava. Obstructions are generally caused by thrombosis and lead to
DE   hepatic congestion and ischemic necrosis. Clinical manifestations
DE   observed in the majority of patients include hepatomegaly, right upper
DE   quadrant pain and abdominal ascites. Budd-Chiari syndrome is
DE   associated with a combination of disease states including primary
DE   myeloproliferative syndromes and thrombophilia due to factor V Leiden,
DE   protein C deficiency and antithrombin III deficiency. Budd-Chiari
DE   syndrome is a rare but typical complication in patients with
DE   polycythemia vera.
SY   Chiari syndrome.
SY   Membranous obstruction of the inferior vena cava.
SY   MOVC.
DR   MIM; 600880; phenotype.
DR   MedGen; C0546323.
DR   MedGen; C0856761.
DR   MeSH; D006502.
//
ID   Bulimia nervosa 2.
AC   DI-04567
AR   BULN2.
DE   A psychiatric disorder characterized by eating an unusually large
DE   amount of food in a short period of time, followed by inappropriate
DE   acts (purging) to avert weight gain. Compensatory behavior includes
DE   self-induced vomiting, laxative abuse, and excessive exercise.
DR   MIM; 607499; phenotype.
DR   MedGen; C1853220.
DR   MeSH; D052018.
//
ID   Buratti-Harel syndrome.
AC   DI-06101
AR   BURHAS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   hypotonia apparent in early infancy, global developmental delay,
DE   delayed walking, language and speech delay, impaired intellectual
DE   development, and dysmorphic facial features.
DR   MIM; 619314; phenotype.
DR   MedGen; CN296784.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Burkitt lymphoma.
AC   DI-02613
AR   BL.
DE   A form of undifferentiated malignant lymphoma commonly manifested as a
DE   large osteolytic lesion in the jaw or as an abdominal mass.
SY   Burkitt tumor.
DR   MIM; 113970; phenotype.
DR   MedGen; C0006413.
DR   MeSH; D002051.
//
ID   Burn-McKeown syndrome.
AC   DI-04322
AR   BMKS.
DE   A disease characterized by choanal atresia, sensorineural deafness,
DE   cardiac defects, and typical craniofacial dysmorphism consisting of
DE   narrow palpebral fissures, coloboma of the lower eyelids, prominent
DE   nose with high nasal bridge, short philtrum, cleft lip and/or palate,
DE   and large and protruding ears. Intellectual development is normal.
SY   Oculootofacial dysplasia.
SY   OOFD.
DR   MIM; 608572; phenotype.
DR   MedGen; C1837822.
DR   MeSH; D002754.
DR   MeSH; D003638.
DR   MeSH; D006330.
DR   MeSH; D019066.
KW   KW-0209:Deafness.
//
ID   Buschke-Ollendorff syndrome.
AC   DI-01301
AR   BOS.
DE   A disease characterized by osteopoikilosis and disseminated
DE   connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia
DE   characterized by a symmetric but unequal distribution of multiple
DE   hyperostotic areas in different parts of the skeleton. Elastic-type
DE   nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis
DE   lenticularis disseminata) have been described in BOS. Skin or bony
DE   lesions can be absent in some family members, whereas other relatives
DE   may have both.
SY   Dermatofibrosis lenticularis disseminata with osteopoikilosis.
SY   Dermatoosteopoikilosis.
SY   Disseminated dermatofibrosis with osteopoikilosis.
SY   Osteopathia condensans disseminata.
DR   MIM; 166700; phenotype.
DR   MedGen; C0265514.
DR   MedGen; C1833699.
DR   MedGen; C3149695.
DR   MeSH; D010023.
DR   MeSH; D012873.
//
ID   Butyrylcholinesterase deficiency.
AC   DI-01302
AR   BCHED.
DE   An autosomal recessive metabolic condition characterized by increased
DE   sensitivity to certain anesthetic drugs, including the muscle
DE   relaxants succinylcholine or mivacurium. BCHED results in slower
DE   hydrolysis of these drugs and, consequently, a prolonged neuromuscular
DE   block, leading to apnea. The duration of the prolonged apnea varies
DE   significantly depending on the extent of the enzyme deficiency.
SY   Acholinesterasemia.
SY   Fluoride-resistant butyrylcholinesterase deficiency Japanese type.
SY   Fluoride-resistant hypocholinesterasemia Japanese type.
SY   Postanesthetic apnea.
SY   Pseudocholinesterase deficiency.
SY   Suxamethonium sensitivity.
DR   MIM; 617936; phenotype.
DR   MedGen; C0268379.
DR   MedGen; C1283400.
DR   MedGen; C1622434.
DR   MedGen; C1867467.
DR   MedGen; C1867468.
DR   MedGen; C1867469.
DR   MedGen; C1867470.
DR   MeSH; D008661.
//
ID   C syndrome.
AC   DI-01303
AR   CSYN.
DE   A syndrome characterized by trigonocephaly, severe intellectual
DE   disability, hypotonia, variable cardiac defects, redundant skin, and
DE   dysmorphic facial features, including upslanted palpebral fissures,
DE   epicanthal folds, depressed nasal bridge, and low-set, posteriorly
DE   rotated ears.
SY   Opitz trigonocephaly syndrome.
SY   Trigonocephaly syndrome.
DR   MIM; 211750; phenotype.
DR   MedGen; C0796095.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   C1q deficiency 1.
AC   DI-01305
AR   C1QD1.
DE   An autosomal recessive disorder caused by impaired activation of the
DE   complement classical pathway. It generally leads to severe immune
DE   complex disease characterized by recurrent skin lesions, chronic
DE   infections, an increased risk of systemic lupus erythematosus, and
DE   glomerulonephritis.
SY   Complement component C1q deficiency.
DR   MIM; 613652; phenotype.
DR   MedGen; C3150902.
DR   MeSH; D007105.
//
ID   C1q deficiency 2.
AC   DI-06645
AR   C1QD2.
DE   An autosomal recessive disorder caused by impaired activation of the
DE   complement classical pathway. It generally leads to severe immune
DE   complex disease characterized by recurrent skin lesions, chronic
DE   infections, an increased risk of systemic lupus erythematosus, and
DE   glomerulonephritis.
SY   Complement component C1q deficiency 2.
DR   MIM; 620321; phenotype.
DR   MedGen; CN325326.
DR   MeSH; D007105.
//
ID   C1q deficiency 3.
AC   DI-06646
AR   C1QD3.
DE   An autosomal recessive disorder caused by impaired activation of the
DE   complement classical pathway. It generally leads to severe immune
DE   complex disease characterized by recurrent skin lesions, chronic
DE   infections, an increased risk of systemic lupus erythematosus, and
DE   glomerulonephritis.
SY   Complement component C1q deficiency 3.
DR   MIM; 620322; phenotype.
DR   MedGen; CN325327.
DR   MeSH; D007105.
//
ID   Caffey disease.
AC   DI-01310
AR   CAFYD.
DE   An autosomal dominant disorder characterized by an infantile episode
DE   of massive subperiosteal new bone formation that typically involves
DE   the diaphyses of the long bones, mandible, and clavicles. The involved
DE   bones may also appear inflamed, with painful swelling and systemic
DE   fever often accompanying the illness. The bone changes usually begin
DE   before 5 months of age and resolve before 2 years of age.
SY   Infantile cortical hyperostosis.
DR   MIM; 114000; phenotype.
DR   MedGen; C0020497.
DR   MedGen; C1861980.
DR   MeSH; D006958.
//
ID   Calcification of joints and arteries.
AC   DI-03016
AR   CALJA.
DE   A condition characterized by adult-onset calcification of the lower
DE   extremity arteries, including the iliac, femoral and tibial arteries,
DE   and hand and foot capsule joints. Age of onset has been reported as
DE   early as the second decade of life, usually involving intense joint
DE   pain or calcification in the hands.
DR   MIM; 211800; phenotype.
DR   MedGen; C1859372.
DR   MeSH; D002114.
//
ID   Calvarial doughnut lesions with bone fragility.
AC   DI-05600
AR   CDL.
DE   A rare autosomal dominant bone disease characterized by low bone
DE   density, distinctive X-ray translucencies of the skull, multiple
DE   fractures, elevated serum alkaline phosphatase, and dental caries.
DE   Patients present with childhood onset of primary osteoporosis and
DE   typical sclerotic doughnut-shaped lesions in the cranial bones.
SY   Doughnut lesions of skull, familial.
DR   MIM; 126550; phenotype.
DR   MedGen; C1852022.
DR   MeSH; D001847.
//
ID   Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.
AC   DI-05601
AR   CDLSMD.
DE   A severe form of calvarial doughnut lesions with bone fragility, a
DE   rare autosomal dominant disease characterized by low bone density,
DE   distinctive X-ray translucencies of the skull, multiple fractures,
DE   elevated serum alkaline phosphatase, and dental caries. CDLSMD
DE   patients show neonatal onset of fractures, severe short stature,
DE   marked cranial sclerosis, and spondylometaphyseal dysplasia.
DR   MIM; 126550; phenotype.
DR   MedGen; C1852022.
DR   MeSH; D001847.
//
ID   Campomelic dysplasia.
AC   DI-01311
AR   CMD1.
DE   A rare, often lethal, osteochondrodysplasia characterized by
DE   congenital bowing and angulation of long bones. Other skeletal defects
DE   include unusually small scapula, deformed pelvis and spine, and a
DE   missing pair of ribs. Craniofacial and ear defects are common. Most
DE   patients die soon after birth due to respiratory distress which has
DE   been attributed to hypoplasia of the tracheobronchial cartilage and
DE   small thoracic cage. Up to two-thirds of affected XY individuals have
DE   genital defects or may develop as phenotypic females.
SY   Acampomelic campomelic dysplasia.
SY   Acampomelic campomelic dysplasia with autosomal sex reversal.
SY   Campomelic dysplasia with autosomal sex reversal.
SY   Camptomelic dysplasia.
SY   CMPD.
SY   CMPD1.
SY   CMPD1/SRA1.
DR   MIM; 114290; phenotype.
DR   MedGen; C1842462.
DR   MedGen; C1861922.
DR   MedGen; C1861923.
DR   MedGen; C3549544.
DR   MeSH; D055036.
//
ID   Camptodactyly, tall stature, and hearing loss syndrome.
AC   DI-01312
AR   CATSHLS.
DE   An autosomal dominant syndrome characterized by permanent and
DE   irreducible flexion of one or more fingers of the hand and/or feet,
DE   tall stature, scoliosis and/or a pectus excavatum, and hearing loss.
DE   Affected individuals have developmental delay and/or intellectual
DE   disability, and several of these have microcephaly. Radiographic
DE   findings included tall vertebral bodies with irregular borders and
DE   broad femoral metaphyses with long tubular shafts. On audiological
DE   exam, each tested member have bilateral sensorineural hearing loss and
DE   absent otoacoustic emissions. The hearing loss was congenital or
DE   developed in early infancy, progressed variably in early childhood,
DE   and range from mild to severe. Computed tomography and magnetic
DE   resonance imaging reveal that the brain, middle ear, and inner ear are
DE   structurally normal.
SY   CATSHL syndrome.
DR   MIM; 610474; phenotype.
DR   MedGen; C1864852.
DR   MeSH; D001848.
DR   MeSH; D006228.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
//
ID   Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
AC   DI-01313
AR   CACP.
DE   An autosomal recessive disorder characterized by the association of
DE   congenital or early-onset camptodactyly and non-inflammatory
DE   arthropathy with synovial hyperplasia. Individuals with CACP have
DE   normal appearing joints at birth but with advancing age develop joint
DE   failure, non-inflammatory synoviocyte hyperplasia and subintimal
DE   fibrosis of the synovial capsule. Some patients also manifest
DE   progressive coxa vara deformity and/or non-inflammatory pericardial or
DE   pleural effusions.
SY   Arthropathy-camptodactyly syndrome.
SY   Camptodactyly-arthropathy-pericarditis syndrome.
SY   CAP syndrome.
SY   Fibrosing serositis, familial.
SY   Hypertrophic synovitis, congenital familial.
SY   Jacobs syndrome.
SY   PAC syndrome.
SY   Pericarditis-arthropathy-camptodactyly syndrome.
DR   MIM; 208250; phenotype.
DR   MedGen; C1859690.
DR   MeSH; D001177.
DR   MeSH; D006228.
DR   MeSH; D013585.
DR   MeSH; D060905.
//
ID   Camptosynpolydactyly, complex.
AC   DI-04787
AR   CCSPD.
DE   An autosomal recessive disorder characterized by hand and foot
DE   deformities consisting of polydactyly with digits arising from the
DE   dorsum of hands, syn- and camptodactyly of some fingers, soft tissue
DE   syndactyly of first and second toes, and dysplastic nails.
SY   Camptopolydactyly, disorganization type.
DR   MIM; 607539; phenotype.
DR   MedGen; C1843758.
DR   MeSH; D005532.
DR   MeSH; D006228.
//
ID   Camurati-Engelmann disease.
AC   DI-01314
AR   CAEND.
DE   An autosomal dominant disorder characterized by hyperostosis and
DE   sclerosis of the diaphyses of long bones. The disease typically
DE   presents in early childhood with pain, muscular weakness and waddling
DE   gait, and in some cases other features such as exophthalmos, facial
DE   paralysis, hearing difficulties and loss of vision.
SY   CED.
SY   Diaphyseal dysplasia 1, progressive.
SY   DPD1.
SY   Engelmann disease.
SY   PDD.
SY   Progressive diaphyseal dysplasia.
DR   MIM; 131300; phenotype.
DR   MedGen; C0011989.
DR   MedGen; C2931842.
DR   MeSH; D003966.
//
ID   Canavan disease.
AC   DI-00208
AR   CAND.
DE   A rare neurodegenerative condition of infancy or childhood
DE   characterized by white matter vacuolization and demyelination that
DE   gives rise to a spongy appearance. The clinical features are onset in
DE   early infancy, atonia of neck muscles, hypotonia, hyperextension of
DE   legs and flexion of arms, blindness, severe mental defect,
DE   megalocephaly, and death by 18 months on the average.
SY   ACY2 deficiency.
SY   Aminoacylase 2 deficiency.
SY   ASPA deficiency.
SY   Aspartoacylase deficiency.
SY   Canavan-van Bogaert-Bertrand disease.
SY   Spongy degeneration of central nervous system.
DR   MIM; 271900; phenotype.
DR   MedGen; C0206307.
DR   MedGen; CN068568.
DR   MedGen; CN203803.
DR   MedGen; CN203804.
DR   MeSH; D017825.
KW   KW-1026:Leukodystrophy.
//
ID   Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.
AC   DI-05518
AR   CAPOK.
DE   An autosomal recessive genodermatosis characterized by hypo- and
DE   hyperpigmented macular skin lesions, progressive alopecia,
DE   palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a
DE   predisposition to squamous cell carcinoma.
DR   MIM; 618373; phenotype.
DR   MedGen; CN258269.
DR   MeSH; D007039.
DR   MeSH; D007645.
DR   MeSH; D010859.
KW   KW-1007:Palmoplantar keratoderma.
KW   KW-1063:Hypotrichosis.
//
ID   Candidiasis, familial, 4.
AC   DI-02808
AR   CANDF4.
DE   A primary immunodeficiency disorder with altered immune responses and
DE   impaired clearance of fungal infections, selective against Candida. It
DE   is characterized by persistent and/or recurrent infections of the
DE   skin, nails and mucous membranes caused by organisms of the genus
DE   Candida, mainly Candida albicans.
SY   Candidiasis familial chronic mucocutaneous.
SY   Chronic mucocutaneous candidiasis 4.
DR   MIM; 613108; phenotype.
DR   MedGen; C0341024.
DR   MeSH; D002178.
//
ID   Candidiasis, familial, 6.
AC   DI-03125
AR   CANDF6.
DE   A primary immunodeficiency disorder with altered immune responses and
DE   impaired clearance of fungal infections, selective against Candida. It
DE   is characterized by persistent and/or recurrent infections of the
DE   skin, nails and mucous membranes caused by organisms of the genus
DE   Candida, mainly Candida albicans.
SY   Candidiasis familial chronic mucocutaneous autosomal dominant.
SY   Chronic mucocutaneous candidiasis 6.
DR   MIM; 613956; phenotype.
DR   MedGen; C3151405.
DR   MeSH; D002178.
//
ID   Candidiasis, familial, 8.
AC   DI-03950
AR   CANDF8.
DE   A primary immunodeficiency disorder with altered immune responses and
DE   impaired clearance of fungal infections, selective against Candida. It
DE   is characterized by persistent and/or recurrent infections of the
DE   skin, nails and mucous membranes caused by organisms of the genus
DE   Candida, mainly Candida albicans.
SY   Candidiasis familial chronic mucocutaneous autosomal recessive.
DR   MIM; 615527; phenotype.
DR   MedGen; C3714992.
DR   MedGen; CN181495.
DR   MeSH; D002178.
//
ID   Candidiasis, familial, 9.
AC   DI-04473
AR   CANDF9.
DE   A disorder characterized by altered immune responses and impaired
DE   clearance of fungal infections, selective against Candida. It is
DE   characterized by persistent and/or recurrent infections of the skin,
DE   nails and mucous membranes caused by organisms of the genus Candida,
DE   mainly Candida albicans.
DR   MIM; 616445; phenotype.
DR   MedGen; CN231436.
DR   MeSH; D002178.
//
ID   Capillary malformation-arteriovenous malformation 1.
AC   DI-01315
AR   CMAVM1.
DE   A disorder characterized by atypical capillary malformations that are
DE   multiple, small, round to oval in shape and pinkish red in color.
DE   These capillary malformations are associated with either arteriovenous
DE   malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1
DE   inheritance is autosomal dominant.
DR   MIM; 608354; phenotype.
DR   MedGen; C1842180.
DR   MedGen; C2675370.
DR   MeSH; D054079.
//
ID   Capillary malformation-arteriovenous malformation 2.
AC   DI-05392
AR   CMAVM2.
DE   An autosomal dominant disorder characterized by multiple, round to
DE   oval or more irregularly shaped macules that are pinkish red in color
DE   and are randomly distributed across the body. These capillary
DE   malformations are associated with either arteriovenous malformation,
DE   arteriovenous fistula, or Parkes Weber syndrome.
DR   MIM; 618196; phenotype.
DR   MedGen; CN257482.
DR   MeSH; D054079.
//
ID   Capillary malformations, congenital.
AC   DI-03786
AR   CMC.
DE   A form of vascular malformations that are present from birth, tend to
DE   grow with the individual, do not regress spontaneously, and show
DE   normal rates of endothelial cell turnover. Capillary malformations are
DE   distinct from capillary hemangiomas, which are highly proliferative
DE   lesions that appear shortly after birth and show rapid growth, slow
DE   involution, and endothelial hypercellularity.
SY   Capillary malformations.
SY   CMAL.
SY   Familial multiple nevi flammei.
SY   Hereditary capillary malformations.
SY   Port-wine stain.
DR   MIM; 163000; phenotype.
DR   MedGen; C0235752.
DR   MedGen; C0340803.
DR   MedGen; C2931029.
DR   MeSH; D054079.
//
ID   Carbamoyl phosphate synthetase 1 deficiency.
AC   DI-00209
AR   CPS1D.
DE   An autosomal recessive disorder of the urea cycle causing
DE   hyperammonemia. It can present as a devastating metabolic disease
DE   dominated by severe hyperammonemia in neonates or as a more insidious
DE   late-onset condition, generally manifesting as life-threatening
DE   hyperammonemic crises under catabolic situations. Clinical features
DE   include protein intolerance, intermittent ataxia, seizures, lethargy,
DE   developmental delay and intellectual disability.
SY   Carbamoyl phosphate synthetase I deficiency.
SY   CPS I deficiency.
SY   Hyperammonemia due to carbamoyl phosphate synthetase I deficiency.
DR   MIM; 237300; phenotype.
DR   MedGen; C0751753.
DR   MeSH; D020165.
//
ID   Carboxypeptidase N deficiency.
AC   DI-01316
AR   CPND.
DE   Patients affected present some combination of angioedema or chronic
DE   urticaria, as well as hay fever or asthma, and have also slightly
DE   depressed serum carboxy peptidase N, suggestive of autosomal recessive
DE   inheritance of this disorder.
DR   MIM; 212070; phenotype.
DR   MedGen; C0398782.
//
ID   Cardiac arrhythmia syndrome, with or without skeletal muscle weakness.
AC   DI-03912
AR   CARDAR.
DE   An autosomal recessive cardiac disorder characterized by stress-
DE   induced arrhythmias in infancy or early childhood. Patients present
DE   with recurrent syncope or cardiac arrest after physical activity or
DE   emotional stress. Sudden death may occur in early childhood. Some
DE   patients have muscle weakness.
SY   CPVT5.
SY   Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness.
DR   MIM; 615441; phenotype.
DR   MedGen; C3809536.
DR   MedGen; CN180177.
DR   MeSH; D017180.
//
ID   Cardiac conduction disease with or without dilated cardiomyopathy.
AC   DI-04282
AR   CCDD.
DE   A cardiac disorder characterized by atrial tachyarrhythmia and
DE   conduction system disease. Some patients have dilated cardiomyopathy.
DR   MIM; 616117; phenotype.
DR   MedGen; CN221670.
DR   MeSH; D001145.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiac valvular dysplasia 1.
AC   DI-05005
AR   CVDP1.
DE   An autosomal recessive form of congenital heart defects, characterized
DE   by valvular malformations involving the pulmonic, tricuspid and mitral
DE   valves.
SY   Cardiac valvular defect, developmental.
SY   CVDD.
DR   MIM; 212093; phenotype.
DR   MedGen; C1859330.
DR   MeSH; D006349.
//
ID   Cardiac valvular dysplasia 2.
AC   DI-06519
AR   CVDP2.
DE   An autosomal recessive form of congenital heart defects, characterized
DE   primarily by congenital stenosis and insufficiency of the semilunar
DE   valves, although mild insufficiency of the atrioventricular valves has
DE   been observed as well. Other features include subaortic stenosis and
DE   dilation of the ascending aorta and/or pulmonary artery in some
DE   patients.
DR   MIM; 620067; phenotype.
DR   MedGen; CN322059.
DR   MeSH; D006349.
//
ID   Cardiac valvular dysplasia, X-linked.
AC   DI-02915
AR   CVDPX.
DE   A rare X-linked heart disease characterized by mitral and/or aortic
DE   valve regurgitation. The histologic features include fragmentation of
DE   collagenous bundles within the valve fibrosa and accumulation of
DE   proteoglycans, which produces excessive valve tissue leading to
DE   billowing of the valve leaflets.
SY   Congenital valvular heart disease.
SY   EDS5.
SY   Ehlers-Danlos syndrome type V.
SY   X-linked myxomatous valvular dystrophy.
SY   XMVD.
DR   MIM; 314400; phenotype.
DR   MedGen; C0262436.
DR   MeSH; D006349.
//
ID   Cardiac, facial, and digital anomalies with developmental delay.
AC   DI-05370
AR   CAFDADD.
DE   An autosomal dominant disorder characterized by delayed motor and
DE   speech development, developmental regression, congenital heart
DE   defects, limb and digital anomalies, and dysmorphic features. Cardiac
DE   features include pulmonary stenosis, patent ductus arteriosus, aortic
DE   coarctation, valvular defects, hypoplastic left heart, double outlet
DE   right ventricle, and conduction abnormalities. Dysmorphic facial
DE   features include multiple hair whorls or hairline abnormalities,
DE   ptosis, epicanthal folds, and low-set or dysplastic ears.
DR   MIM; 618164; phenotype.
DR   MedGen; CN257756.
DR   MeSH; D000015.
//
ID   Cardiac-urogenital syndrome.
AC   DI-05461
AR   CUGS.
DE   An autosomal dominant syndrome characterized by partial anomalous
DE   pulmonary venous return, tracheal anomalies, pulmonary hypoplasia,
DE   congenital diaphragmatic hernia, thyroid fibrosis, thymic involution,
DE   cleft spleen, penoscrotal hypospadias, and cryptorchidism.
DR   MIM; 618280; phenotype.
DR   MedGen; CN258099.
DR   MeSH; D012587.
DR   MeSH; D014564.
//
ID   Cardioacrofacial dysplasia 1.
AC   DI-05997
AR   CAFD1.
DE   An autosomal dominant disease characterized by dysmorphic facial
DE   features, congenital cardiac defects, primarily common atrium or
DE   atrioventricular septal defect, and limb anomalies, including short
DE   limbs, brachydactyly and postaxial polydactyly.
DR   MIM; 619142; phenotype.
DR   MedGen; CN293613.
DR   MeSH; D006330.
DR   MeSH; D017880.
//
ID   Cardioacrofacial dysplasia 2.
AC   DI-05998
AR   CAFD2.
DE   An autosomal dominant disease characterized by dysmorphic facial
DE   features, congenital cardiac defects, primarily common atrium or
DE   atrioventricular septal defect, and limb anomalies, including short
DE   limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may
DE   show developmental delay of variable severity, intellectual
DE   disability, autistic features and focal seizures.
DR   MIM; 619143; phenotype.
DR   MedGen; CN293614.
DR   MeSH; D006330.
DR   MeSH; D017880.
//
ID   Cardiofaciocutaneous syndrome 1.
AC   DI-01318
AR   CFC1.
DE   A multiple congenital anomaly disorder characterized by a distinctive
DE   facial appearance, heart defects and intellectual disability. Heart
DE   defects include pulmonic stenosis, atrial septal defects and
DE   hypertrophic cardiomyopathy. Some affected individuals present with
DE   ectodermal abnormalities such as sparse, friable hair, hyperkeratotic
DE   skin lesions and a generalized ichthyosis-like condition. Typical
DE   facial features are similar to Noonan syndrome. They include high
DE   forehead with bitemporal constriction, hypoplastic supraorbital
DE   ridges, downslanting palpebral fissures, a depressed nasal bridge, and
DE   posteriorly angulated ears with prominent helices.
SY   Cardio-facio-cutaneous syndrome.
SY   CFCS.
SY   CFC syndrome.
DR   MIM; 115150; phenotype.
DR   MedGen; C1275081.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Intellectual disability.
//
ID   Cardiofaciocutaneous syndrome 2.
AC   DI-03779
AR   CFC2.
DE   A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE   disorder characterized by a distinctive facial appearance, heart
DE   defects and intellectual disability. Heart defects include pulmonic
DE   stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE   affected individuals present with ectodermal abnormalities such as
DE   sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE   ichthyosis-like condition. Typical facial features are similar to
DE   Noonan syndrome. They include high forehead with bitemporal
DE   constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE   fissures, a depressed nasal bridge, and posteriorly angulated ears
DE   with prominent helices. CFC2 patients often do not have the skin
DE   abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma
DE   observed in CFC1.
DR   MIM; 615278; phenotype.
DR   MedGen; C3809005.
DR   MedGen; CN176912.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Intellectual disability.
//
ID   Cardiofaciocutaneous syndrome 3.
AC   DI-03780
AR   CFC3.
DE   A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE   disorder characterized by a distinctive facial appearance, heart
DE   defects and intellectual disability. Heart defects include pulmonic
DE   stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE   affected individuals present with ectodermal abnormalities such as
DE   sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE   ichthyosis-like condition. Typical facial features are similar to
DE   Noonan syndrome. They include high forehead with bitemporal
DE   constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE   fissures, a depressed nasal bridge, and posteriorly angulated ears
DE   with prominent helices. Distinctive features of CFC3 include
DE   macrostomia and horizontal shape of palpebral fissures.
DR   MIM; 615279; phenotype.
DR   MedGen; C3809006.
DR   MedGen; CN176913.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Intellectual disability.
//
ID   Cardiofaciocutaneous syndrome 4.
AC   DI-03781
AR   CFC4.
DE   A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly
DE   disorder characterized by a distinctive facial appearance, heart
DE   defects and intellectual disability. Heart defects include pulmonic
DE   stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some
DE   affected individuals present with ectodermal abnormalities such as
DE   sparse, friable hair, hyperkeratotic skin lesions and a generalized
DE   ichthyosis-like condition. Typical facial features are similar to
DE   Noonan syndrome. They include high forehead with bitemporal
DE   constriction, hypoplastic supraorbital ridges, downslanting palpebral
DE   fissures, a depressed nasal bridge, and posteriorly angulated ears
DE   with prominent helices.
DR   MIM; 615280; phenotype.
DR   MedGen; C3809007.
DR   MedGen; CN176914.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Intellectual disability.
//
ID   Cardiofacioneurodevelopmental syndrome.
AC   DI-05989
AR   CFNDS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, feeding difficulties, microcephaly and dysmorphic features.
DE   Additional features include cleft lip, cleft palate, variable cardiac
DE   defects, and abdominal situs inversus with asplenia. Brain imaging
DE   reveals cerebellar hypoplasia.
DR   MIM; 619123; phenotype.
DR   MedGen; CN293580.
DR   MeSH; D000015.
KW   KW-1186:Ciliopathy.
//
ID   Cardiomyopathy, dilated, 1A.
AC   DI-00210
AR   CMD1A.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
SY   Cardiomyopathy dilated with conduction defect 1.
SY   CDCD1.
DR   MIM; 115200; phenotype.
DR   MedGen; C1449563.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction.
AC   DI-00211
AR   CMD1AA.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 612158; phenotype.
DR   MedGen; C2677338.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1BB.
AC   DI-02483
AR   CMD1BB.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 612877; phenotype.
DR   MedGen; C2752072.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction.
AC   DI-00212
AR   CMD1C.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death. Cardiomyopathy dilated type
DE   1C is associated with left ventricular non-compaction in some
DE   patients. Left ventricular non-compaction is characterized by numerous
DE   prominent trabeculations and deep intertrabecular recesses in
DE   hypertrophied and hypokinetic segments of the left ventricle.
SY   Cardiomyopathy dilated with left ventricular noncompaction.
DR   MIM; 601493; phenotype.
DR   MedGen; C1832244.
DR   MedGen; C1853863.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1CC.
AC   DI-02530
AR   CMD1CC.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613122; phenotype.
DR   MedGen; C2751084.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1D.
AC   DI-00213
AR   CMD1D.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 601494; phenotype.
DR   MedGen; C1832243.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1DD.
AC   DI-02568
AR   CMD1DD.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613172; phenotype.
DR   MedGen; C2750995.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1E.
AC   DI-00214
AR   CMD1E.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
SY   CDCD2.
SY   Dilated cardiomyopathy with conduction defect 2.
SY   Dilated cardiomyopathy with conduction disorder and arrhythmia.
DR   MIM; 601154; phenotype.
DR   MedGen; C1832680.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1EE.
AC   DI-02682
AR   CMD1EE.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613252; phenotype.
DR   MedGen; C2750466.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1FF.
AC   DI-02681
AR   CMD1FF.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613286; phenotype.
DR   MedGen; C2750091.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1G.
AC   DI-00215
AR   CMD1G.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 604145; phenotype.
DR   MedGen; C1858763.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1GG.
AC   DI-02945
AR   CMD1GG.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613642; phenotype.
DR   MedGen; C3150898.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1HH.
AC   DI-03042
AR   CMD1HH.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613881; phenotype.
DR   MedGen; C3151293.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1I.
AC   DI-00216
AR   CMD1I.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 604765; phenotype.
DR   MedGen; C1858154.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1II.
AC   DI-03750
AR   CMD1II.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615184; phenotype.
DR   MedGen; C3554649.
DR   MedGen; CN168962.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1J.
AC   DI-00217
AR   CMD1J.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death. CMD1J is characterized by the
DE   association of sensorineural hearing loss and dilated cardiomyopathy
DE   in the absence of other anomalies.
SY   Cardiomyopathy dilated with sensorineural hearing loss autosomal dominant.
DR   MIM; 605362; phenotype.
DR   MedGen; C1854368.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1JJ.
AC   DI-03729
AR   CMD1JJ.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615235; phenotype.
DR   MedGen; C3808935.
DR   MedGen; CN169679.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1KK.
AC   DI-03730
AR   CMD1KK.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615248; phenotype.
DR   MedGen; C3714995.
DR   MedGen; CN169881.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1L.
AC   DI-00218
AR   CMD1L.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 606685; phenotype.
DR   MedGen; C1847667.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1LL.
AC   DI-03860
AR   CMD1LL.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615373; phenotype.
DR   MedGen; C3809289.
DR   MedGen; CN178850.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1M.
AC   DI-00219
AR   CMD1M.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 607482; phenotype.
DR   MedGen; C1843808.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1MM.
AC   DI-03872
AR   CMD1MM.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615396; phenotype.
DR   MedGen; C3809346.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1NN.
AC   DI-04172
AR   CMD1NN.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 615916; phenotype.
DR   MedGen; CN219641.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1O.
AC   DI-00221
AR   CMD1O.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
SY   Dilated cardiomyopathy with ventricular tachycardia.
DR   MIM; 608569; phenotype.
DR   MedGen; C1837839.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1OO.
AC   DI-06603
AR   CMD1OO.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death. CMD1OO inheritance is
DE   autosomal dominant.
DR   MIM; 620247; phenotype.
DR   MedGen; CN323380.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1P.
AC   DI-00222
AR   CMD1P.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 609909; phenotype.
DR   MedGen; C1835928.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1PP.
AC   DI-06707
AR   CMD1PP.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death. CMD1PP inheritance is
DE   autosomal dominant.
DR   MIM; 617047; phenotype.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1R.
AC   DI-00223
AR   CMD1R.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613424; phenotype.
DR   MedGen; C3150681.
DR   MedGen; C3150682.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1S.
AC   DI-00224
AR   CMD1S.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613426; phenotype.
DR   MedGen; C1834481.
DR   MedGen; C3150690.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1U.
AC   DI-02967
AR   CMD1U.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613694; phenotype.
DR   MedGen; C3160720.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1V.
AC   DI-02968
AR   CMD1V.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 613697; phenotype.
DR   MedGen; C3150958.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1W.
AC   DI-00225
AR   CMD1W.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 611407; phenotype.
DR   MedGen; C1969639.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1X.
AC   DI-00227
AR   CMD1X.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
SY   Dilated cardiomyopathy with mild or no proximal muscle weakness.
DR   MIM; 611615; phenotype.
DR   MedGen; C1969024.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1Y.
AC   DI-00226
AR   CMD1Y.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 611878; phenotype.
DR   MedGen; C2678476.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 1Z.
AC   DI-00228
AR   CMD1Z.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 611879; phenotype.
DR   MedGen; C2678475.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2A.
AC   DI-00229
AR   CMD2A.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 611880; phenotype.
DR   MedGen; C2678474.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2B.
AC   DI-03469
AR   CMD2B.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death.
DR   MIM; 614672; phenotype.
DR   MedGen; C3553409.
DR   MedGen; CN128710.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2C.
AC   DI-05389
AR   CMD2C.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2C is an autosomal recessive form with variable
DE   severity and age of onset ranging from 2 to 20 years. Death in infancy
DE   or early childhood may occur in severely affected children.
DR   MIM; 618189; phenotype.
DR   MedGen; CN257789.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2D.
AC   DI-06135
AR   CMD2D.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2D is an autosomal recessive, severe form with
DE   neonatal onset.
DR   MIM; 619371; phenotype.
DR   MedGen; CN296941.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2E.
AC   DI-06212
AR   CMD2E.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2E is an autosomal recessive form with neonatal or
DE   early childhood onset and rapid progression to cardiac failure.
DR   MIM; 619492; phenotype.
DR   MedGen; CN301152.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2F.
AC   DI-06345
AR   CMD2F.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2F is an autosomal recessive, early-onset form.
DR   MIM; 619747; phenotype.
DR   MedGen; CN306446.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2G.
AC   DI-06435
AR   CMD2G.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2G is an autosomal recessive form characterized by
DE   early-onset, severe cardiomyopathy that progresses rapidly to heart
DE   failure in the neonatal period without evidence of intervening
DE   hypertrophy.
DR   MIM; 619897; phenotype.
DR   MedGen; CN312437.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2H.
AC   DI-06595
AR   CMD2H.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2H is an autosomal recessive form characterized by
DE   rapid progression and death in early infancy.
DR   MIM; 620203; phenotype.
DR   MedGen; CN322941.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 2I.
AC   DI-06740
AR   CMD2I.
DE   A form of dilated cardiomyopathy, a disorder characterized by
DE   ventricular dilation and impaired systolic function, resulting in
DE   congestive heart failure and arrhythmia. Patients are at risk of
DE   premature death. CMD2I is an autosomal recessive, severe form
DE   characterized by onset in infancy or childhood.
DR   MIM; 620462; phenotype.
DR   MedGen; CN372470.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, 3B.
AC   DI-00231
AR   CMD3B.
DE   A disorder characterized by ventricular dilation and impaired systolic
DE   function, resulting in congestive heart failure and arrhythmia.
DE   Patients are at risk of premature death. CMD3B is an X-linked
DE   disorder.
SY   XLCM.
SY   X-linked dilated cardiomyopathy.
DR   MIM; 302045; phenotype.
DR   MedGen; C3714570.
DR   MedGen; CN128796.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, with hypergonadotropic hypogonadism.
AC   DI-02906
AR   CMDHH.
DE   A disorder characterized by the association of genital anomalies,
DE   hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients
DE   can present other variable clinical manifestations including
DE   intellectual disability, skeletal anomalies, scleroderma-like skin,
DE   graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is
DE   characterized by ventricular dilation and impaired systolic function,
DE   resulting in congestive heart failure and arrhythmia.
SY   Cardiogenital syndrome.
SY   Cardiomyopathy congestive with hypergonadotropic hypogonadism.
SY   Cardiomyopathy dilated with premature ovarian failure.
SY   Cardiomyopathy with primary testicular failure.
SY   Genital anomaly with cardiomyopathy.
SY   Malouf syndrome.
SY   Najjar syndrome.
DR   MIM; 212112; phenotype.
DR   MedGen; C0796031.
DR   MedGen; C0796083.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated, with woolly hair and keratoderma.
AC   DI-00230
AR   DCWHK.
DE   An autosomal recessive cardiocutaneous syndrome characterized by a
DE   generalized striate keratoderma particularly affecting the
DE   palmoplantar epidermis, woolly hair, and dilated left ventricular
DE   cardiomyopathy.
SY   Carvajal syndrome.
SY   Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair.
DR   MIM; 605676; phenotype.
DR   MedGen; C1854063.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.
AC   DI-04267
AR   DCWHKTA.
DE   A cardiocutaneous syndrome characterized by biventricular dilated
DE   cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma,
DE   and hypo/oligodontia.
DR   MIM; 615821; phenotype.
DR   MedGen; CN221269.
DR   MeSH; D000848.
DR   MeSH; D002311.
DR   MeSH; D006201.
DR   MeSH; D007645.
KW   KW-0122:Cardiomyopathy.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Cardiomyopathy, familial hypertrophic.
AC   DI-00232
AR   CMH.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
SY   ASH.
SY   Asymmetric septal hypertrophy.
SY   Familial hypertrophic cardiomyopathy.
SY   FHC.
SY   HCM.
SY   Hypertrophic cardiomyopathy.
SY   Hypertrophic subaortic stenosis, idiopathic.
SY   Ventricular hypertrophy, hereditary.
DR   MIM; 192600; phenotype.
DR   MedGen; C0205700.
DR   MedGen; C0597124.
DR   MedGen; C0700053.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 1.
AC   DI-00233
AR   CMH1.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 192600; phenotype.
DR   MedGen; C3495498.
DR   MedGen; CN030093.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 10.
AC   DI-00240
AR   CMH10.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death. Rarely, patients present a variant of familial hypertrophic
DE   cardiomyopathy, characterized by mid-left ventricular chamber
DE   thickening.
SY   Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 2.
SY   MVC2.
DR   MIM; 608758; phenotype.
DR   MedGen; C1834460.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 11.
AC   DI-00241
AR   CMH11.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 612098; phenotype.
DR   MedGen; C2677506.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 12.
AC   DI-00242
AR   CMH12.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 612124; phenotype.
DR   MedGen; CN029460.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 13.
AC   DI-02553
AR   CMH13.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613243; phenotype.
DR   MedGen; C2750472.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 14.
AC   DI-02680
AR   CMH14.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613251; phenotype.
DR   MedGen; C2750467.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 15.
AC   DI-02679
AR   CMH15.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613255; phenotype.
DR   MedGen; C2750459.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 16.
AC   DI-03037
AR   CMH16.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613838; phenotype.
DR   MedGen; C3151204.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 17.
AC   DI-03038
AR   CMH17.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613873; phenotype.
DR   MedGen; C3151264.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 18.
AC   DI-03039
AR   CMH18.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613874; phenotype.
DR   MedGen; C3151265.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 2.
AC   DI-00234
AR   CMH2.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 115195; phenotype.
DR   MedGen; C1861864.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 20.
AC   DI-03041
AR   CMH20.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613876; phenotype.
DR   MedGen; C3151267.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 22.
AC   DI-03731
AR   CMH22.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 615248; phenotype.
DR   MedGen; C3714998.
DR   MedGen; CN169882.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction.
AC   DI-04440
AR   CMH23.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
SY   Cardiomyopathy, familial hypertrophic 23, with or without LVNC.
DR   MIM; 612158; phenotype.
DR   MedGen; C2677338.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 24.
AC   DI-04407
AR   CMH24.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 601493; phenotype.
DR   MedGen; CN229629.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 25.
AC   DI-00220
AR   CMH25.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
SY   Cardiomyopathy, dilated, 1N.
SY   CMD1N.
DR   MIM; 607487; phenotype.
DR   MedGen; C1843791.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 26.
AC   DI-04771
AR   CMH26.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 617047; phenotype.
DR   MedGen; CN237810.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 27.
AC   DI-05290
AR   CMH27.
DE   A form of hypertrophic cardiomyopathy, a heart disorder characterized
DE   by ventricular hypertrophy, which is usually asymmetric and often
DE   involves the interventricular septum. The symptoms include dyspnea,
DE   syncope, collapse, palpitations, and chest pain. They can be readily
DE   provoked by exercise. The disorder has inter- and intrafamilial
DE   variability ranging from benign to malignant forms with high risk of
DE   cardiac failure and sudden cardiac death. CMH27 is a severe, early-
DE   onset form with features of hypertrophic and dilated cardiomyopathy.
DR   MIM; 618052; phenotype.
DR   MedGen; CN252335.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 28.
AC   DI-06150
AR   CMH28.
DE   A form of hypertrophic cardiomyopathy, a heart disorder characterized
DE   by ventricular hypertrophy, which is usually asymmetric and often
DE   involves the interventricular septum. The symptoms include dyspnea,
DE   syncope, collapse, palpitations, and chest pain. They can be readily
DE   provoked by exercise. The disorder has inter- and intrafamilial
DE   variability ranging from benign to malignant forms with high risk of
DE   cardiac failure and sudden cardiac death. CMH28 is an autosomal
DE   dominant form with incomplete penetrance.
DR   MIM; 619402; phenotype.
DR   MedGen; CN299210.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies.
AC   DI-06602
AR   CMH29.
DE   A form of hypertrophic cardiomyopathy, a heart disorder characterized
DE   by ventricular hypertrophy, which is usually asymmetric and often
DE   involves the interventricular septum. The symptoms include dyspnea,
DE   syncope, collapse, palpitations, and chest pain. They can be readily
DE   provoked by exercise. The disorder has inter- and intrafamilial
DE   variability ranging from benign to malignant forms with high risk of
DE   cardiac failure and sudden cardiac death. CMH29 is an autosomal
DE   recessive form associated with a poor prognosis due to lethal
DE   arrhythmias and cardiac failure. Cardiac muscle biopsies show
DE   intermyofibrillar accumulation of glycogen and polyglucosan bodies
DE   within cardiomyocytes. Intermyofibrillar glycogen accumulation is also
DE   present in skeletal muscle.
DR   MIM; 620236; phenotype.
DR   MedGen; CN323199.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 3.
AC   DI-00235
AR   CMH3.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 115196; phenotype.
DR   MedGen; C1861863.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 4.
AC   DI-00236
AR   CMH4.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 115197; phenotype.
DR   MedGen; C1861862.
DR   MedGen; C2751427.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 6.
AC   DI-00245
AR   CMH6.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death. CMH6 patients present Wolff-Parkinson-White ventricular
DE   preexcitation, enlarged myocytes without myofiber disarray, and
DE   glycogen-containing cytosolic vacuoles within cardiomyocytes.
SY   Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
DR   MIM; 600858; phenotype.
DR   MedGen; C1833236.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 7.
AC   DI-00237
AR   CMH7.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613690; phenotype.
DR   MedGen; CN069699.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 8.
AC   DI-00238
AR   CMH8.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death. Rarely, patients present a variant of familial hypertrophic
DE   cardiomyopathy, characterized by mid-left ventricular chamber
DE   thickening.
SY   Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 1.
SY   MVC1.
DR   MIM; 608751; phenotype.
DR   MedGen; C1837471.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic, 9.
AC   DI-00239
AR   CMH9.
DE   A hereditary heart disorder characterized by ventricular hypertrophy,
DE   which is usually asymmetric and often involves the interventricular
DE   septum. The symptoms include dyspnea, syncope, collapse, palpitations,
DE   and chest pain. They can be readily provoked by exercise. The disorder
DE   has inter- and intrafamilial variability ranging from benign to
DE   malignant forms with high risk of cardiac failure and sudden cardiac
DE   death.
DR   MIM; 613765; phenotype.
DR   MedGen; C1861065.
DR   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial restrictive 1.
AC   DI-00246
AR   RCM1.
DE   A heart disorder characterized by impaired filling of the ventricles
DE   with reduced diastolic volume, in the presence of normal or near
DE   normal wall thickness and systolic function.
DR   MIM; 115210; phenotype.
DR   MedGen; C1861861.
DR   MeSH; D002313.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial restrictive 3.
AC   DI-00247
AR   RCM3.
DE   A heart disorder characterized by impaired filling of the ventricles
DE   with reduced diastolic volume, in the presence of normal or near
DE   normal wall thickness and systolic function.
DR   MIM; 612422; phenotype.
DR   MedGen; C2676271.
DR   MeSH; D002313.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial restrictive 4.
AC   DI-03732
AR   RCM4.
DE   A heart disorder characterized by impaired filling of the ventricles
DE   with reduced diastolic volume, in the presence of normal or near
DE   normal wall thickness and systolic function.
DR   MIM; 615248; phenotype.
DR   MedGen; C3808963.
DR   MedGen; CN169883.
DR   MeSH; D002313.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial restrictive 5.
AC   DI-04772
AR   RCM5.
DE   A heart disorder characterized by impaired filling of the ventricles
DE   with reduced diastolic volume, in the presence of normal or near
DE   normal wall thickness and systolic function.
DR   MIM; 617047; phenotype.
DR   MedGen; CN237821.
DR   MeSH; D002313.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial restrictive 6.
AC   DI-06155
AR   RCM6.
DE   A heart disorder characterized by impaired filling of the ventricles
DE   with reduced diastolic volume, in the presence of normal or near
DE   normal wall thickness and systolic function. RCM6 is an autosomal
DE   recessive, severe form characterized by prenatal onset, irreversible
DE   heart failure and early death.
DR   MIM; 619433; phenotype.
DR   MedGen; CN299794.
DR   MeSH; D002313.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, infantile histiocytoid.
AC   DI-00248
AR   CMIH.
DE   A heart disease characterized by the presence of pale granular foamy
DE   histiocyte-like cells within the myocardium. It usually affects
DE   children younger than 2 years of age, with a clear predominance of
DE   females over males. Infants present with dysrhythmia or cardiac
DE   arrest. The clinical course is usually fulminant, sometimes simulating
DE   sudden infant death syndrome.
SY   Cardiomyopathy focal lipid.
SY   Cardiomyopathy infantile xanthomatous.
SY   Cardiomyopathy oncocytic.
DR   MIM; 500000; phenotype.
DR   MedGen; C1708371.
DR   MeSH; D009202.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, infantile hypertrophic.
AC   DI-04888
AR   CMHI.
DE   An infantile form of hypertrophic cardiomyopathy, a heart disorder
DE   characterized by ventricular hypertrophy, which is usually asymmetric
DE   and often involves the interventricular septum. The symptoms include
DE   dyspnea, syncope, collapse, palpitations, and chest pain. They can be
DE   readily provoked by exercise. The disorder has inter- and
DE   intrafamilial variability ranging from benign to malignant forms with
DE   high risk of cardiac failure and sudden cardiac death.
DR   MIM; 500006; phenotype.
DR   MedGen; C2748884.
DR   MeSH; D002312.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiospondylocarpofacial syndrome.
AC   DI-04853
AR   CSCF.
DE   A syndrome characterized by growth retardation, dysmorphic facial
DE   features, brachydactyly with carpal-tarsal fusion and extensive
DE   posterior cervical vertebral synostosis, cardiac septal defects with
DE   valve dysplasia, and deafness with inner ear malformations. CSCF
DE   transmission pattern is consistent with autosomal dominant
DE   inheritance.
SY   Forney Robinson Pascoe syndrome.
SY   Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones.
DR   MIM; 157800; phenotype.
DR   MedGen; C1834818.
DR   MeSH; D006312.
DR   MeSH; D006349.
DR   MeSH; D010026.
//
ID   Carey-Fineman-Ziter syndrome 1.
AC   DI-05049
AR   CFZS1.
DE   An autosomal recessive multisystem disorder characterized by
DE   hypotonia, bilateral congenital facial palsy with impairment of ocular
DE   abduction (Moebius sequence), micrognathia, glossoptosis and high-
DE   arched or cleft palate (Pierre Robin complex), delayed motor
DE   milestones, and failure to thrive.
SY   CFZ syndrome.
SY   Congenital non-progressive myopathy with Moebius and Robin sequences.
SY   Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence.
DR   MIM; 254940; phenotype.
DR   MedGen; C1850746.
DR   MeSH; D009135.
DR   MeSH; D010855.
DR   MeSH; D020331.
//
ID   Carey-Fineman-Ziter syndrome 2.
AC   DI-06467
AR   CFZS2.
DE   An autosomal recessive disorder characterized by weakness of the
DE   facial musculature, hypomimic facies, increased overbite,
DE   micrognathia, and facial dysmorphism. Some patients manifest failure
DE   to thrive, axial hypotonia, and progressive scoliosis.
DR   MIM; 619941; phenotype.
DR   MedGen; CN315603.
DR   MeSH; D009135.
DR   MeSH; D010855.
DR   MeSH; D020331.
//
ID   Carney complex 1.
AC   DI-01319
AR   CNC1.
DE   CNC is a multiple neoplasia syndrome characterized by spotty skin
DE   pigmentation, cardiac and other myxomas, endocrine tumors, and
DE   psammomatous melanotic schwannomas.
SY   CAR.
SY   Carney complex, type 1.
SY   Carney myxoma-endocrine complex.
SY   Carney syndrome.
SY   LAMB syndrome.
SY   Myxoma, spotty pigmentation, and endocrine overactivity.
SY   NAME syndrome.
DR   MIM; 160980; phenotype.
DR   MedGen; C2607929.
DR   MeSH; D056733.
//
ID   Carney complex variant.
AC   DI-01320
AR   CACOV.
DE   Carney complex is a multiple neoplasia syndrome characterized by
DE   spotty skin pigmentation, cardiac and other myxomas, endocrine tumors,
DE   and psammomatous melanotic schwannomas. Familial cardiac myxomas are
DE   associated with spotty pigmentation of the skin and other phenotypes,
DE   including primary pigmented nodular adrenocortical dysplasia,
DE   extracardiac (frequently cutaneous) myxomas, schwannomas, and
DE   pituitary, thyroid, testicular, bone, ovarian, and breast tumors.
DE   Cardiac myxomas do not develop in all patients with the Carney
DE   complex, but affected patients have at least two features of the
DE   complex or one feature and a clinically significant family history.
DR   MIM; 608837; phenotype.
DR   MedGen; C1837245.
//
ID   Carnitine palmitoyltransferase 1A deficiency.
AC   DI-01321
AR   CPT1AD.
DE   Rare autosomal recessive metabolic disorder of long-chain fatty acid
DE   oxidation characterized by severe episodes of hypoketotic hypoglycemia
DE   usually occurring after fasting or illness. Onset is in infancy or
DE   early childhood.
SY   Carnitine palmitoyltransferase I deficiency.
SY   CPT1A deficiency.
SY   CPT-I deficiency.
DR   MIM; 255120; phenotype.
DR   MedGen; C0342789.
DR   MedGen; C1829703.
//
ID   Carnitine palmitoyltransferase 2 deficiency, infantile.
AC   DI-03089
AR   CPT2DI.
DE   An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE   oxidation, characterized by hepatic or hepato-cardio-muscular
DE   manifestations with onset in infancy. Clinical features include
DE   hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver
DE   dysfunction, cardiomegaly and dilated cardiomyopathy.
SY   Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular.
SY   Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia.
SY   CPT2 deficiency, infantile.
SY   CPT II deficiency, hepatic.
DR   MIM; 600649; phenotype.
DR   MedGen; C1833511.
DR   MeSH; D008661.
//
ID   Carnitine palmitoyltransferase 2 deficiency, lethal neonatal.
AC   DI-01323
AR   CPT2DLN.
DE   An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE   oxidation with fatal outcome, presenting shortly after birth. It is
DE   characterized by respiratory distress, seizures, altered mental
DE   status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many
DE   cases, dysmorphic features, renal dysgenesis, and migration defects.
DE   recessive.
SY   Carnitine palmitoyltransferase II deficiency, antenatal.
SY   Carnitine palmitoyltransferase II deficiency, neonatal.
SY   CPT2 deficiency, lethal neonatal.
SY   CPT II deficiency, lethal neonatal.
SY   Lethal neonatal CPT-II deficiency.
DR   MIM; 608836; phenotype.
DR   MedGen; C1833518.
DR   MeSH; D008661.
//
ID   Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced.
AC   DI-01322
AR   CPT2D.
DE   An autosomal recessive disorder of mitochondrial long-chain fatty acid
DE   oxidation, characterized by recurrent myoglobinuria, episodes of
DE   muscle pain, stiffness, and rhabdomyolysis. These symptoms are
DE   exacerbated by prolonged exercise, fasting, cold, or viral infection.
DE   CPT2DM affects most frequently children or young adults, and severity
DE   of attacks is highly variable. Myoglobinuria can cause kidney failure
DE   and death.
SY   Carnitine palmitoyltransferase 2 deficiency, late-onset.
SY   Carnitine palmitoyltransferase II deficiency, adult-onset.
SY   Carnitine palmitoyltransferase II deficiency, myopathic.
SY   CPT2 deficiency, late-onset.
SY   CPT II deficiency, myopathic.
DR   MIM; 255110; phenotype.
DR   MedGen; C1833508.
DR   MeSH; D008661.
//
ID   Carnitine-acylcarnitine translocase deficiency.
AC   DI-01324
AR   CACTD.
DE   A rare long-chain fatty acid oxidation disorder. Metabolic
DE   consequences include hypoketotic hypoglycemia under fasting
DE   conditions, hyperammonemia, elevated creatine kinase and
DE   transaminases, dicarboxylic aciduria, very low free carnitine and
DE   abnormal acylcarnitine profile with marked elevation of the long-chain
DE   acylcarnitines. Clinical features include neurologic abnormalities,
DE   cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction
DE   and episodes of life-threatening coma, which eventually lead to death.
DE   Most patients become symptomatic in the neonatal period with a rapidly
DE   progressive deterioration and a high mortality rate.
SY   CACT deficiency.
DR   MIM; 212138; phenotype.
DR   MedGen; C0342791.
DR   MeSH; D008052.
//
ID   Carpal tunnel syndrome 1.
AC   DI-02811
AR   CTS1.
DE   A condition characterized by entrapment of the median nerve within the
DE   carpal tunnel. Symptoms include burning pain and paresthesias
DE   involving the ventral surface of the hand and fingers which may
DE   radiate proximally. Impairment of sensation in the distribution of the
DE   median nerve and thenar muscle atrophy may occur. This condition may
DE   be associated with repetitive occupational trauma, wrist injuries,
DE   amyloid neuropathies, rheumatoid arthritis.
SY   CTS.
SY   Median neuropathy carpal tunnel.
SY   Thenar amyotrophy of carpal origin.
DR   MIM; 115430; phenotype.
DR   MedGen; C0007286.
DR   MeSH; D002349.
//
ID   Carpal tunnel syndrome 2.
AC   DI-06003
AR   CTS2.
DE   An autosomal dominant form of carpal tunnel syndrome, a condition
DE   characterized by entrapment of the median nerve within the carpal
DE   tunnel. Symptoms include burning pain and paresthesias involving the
DE   ventral surface of the hand and fingers which may radiate proximally.
DE   Impairment of sensation in the distribution of the median nerve and
DE   thenar muscle atrophy may occur. This condition may be associated with
DE   repetitive occupational trauma, wrist injuries, amyloid neuropathies,
DE   rheumatoid arthritis.
DR   MIM; 619161; phenotype.
DR   MedGen; CN293659.
DR   MeSH; D002349.
//
ID   Carpenter syndrome 1.
AC   DI-01325
AR   CRPT1.
DE   A rare autosomal recessive disorder characterized by acrocephaly with
DE   variable synostosis of the sagittal, lambdoid, and coronal sutures;
DE   peculiar facies; brachydactyly of the hands with syndactyly; preaxial
DE   polydactyly and syndactyly of the feet; congenital heart defects;
DE   growth retardation; intellectual disability; hypogenitalism; and
DE   obesity. In addition, cerebral malformations, oral and dental
DE   abnormalities, coxa valga, genu valgum, hydronephrosis, precocious
DE   puberty, and hearing loss may be observed.
SY   ACPS2.
SY   ACPS II.
SY   Acrocephalopolysyndactyly 2.
SY   Acrocephalopolysyndactyly type II.
SY   Carpenter syndrome.
DR   MIM; 201000; phenotype.
DR   MedGen; C0796281.
DR   MedGen; C1275078.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Carpenter syndrome 2.
AC   DI-03635
AR   CRPT2.
DE   An autosomal recessive multiple congenital malformation disorder
DE   characterized by multisuture craniosynostosis and polysyndactyly of
DE   the hands and feet, in association with abnormal left-right patterning
DE   and other features, most commonly obesity, umbilical hernia,
DE   cryptorchidism, and congenital heart disease.
DR   MIM; 614976; phenotype.
DR   MedGen; C3554247.
DR   MedGen; CN163067.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Caspase-8 deficiency.
AC   DI-01326
AR   CASP8D.
DE   Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It
DE   is characterized by lymphadenopathy, splenomegaly, and defective CD95-
DE   induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to
DE   defects in activation of T-lymphocytes, B-lymphocytes, and natural
DE   killer cells leading to immunodeficiency characterized by recurrent
DE   sinopulmonary and herpes simplex virus infections and poor responses
DE   to immunization.
DR   MIM; 607271; phenotype.
DR   MedGen; C1846545.
//
ID   Cataract 1, multiple types.
AC   DI-02470
AR   CTRCT1.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT1 includes congenital, zonular
DE   pulverulent, nuclear progressive, nuclear pulverulent, nuclear total,
DE   total, and posterior subcapsular types of cataract. Zonular or
DE   lamellar cataracts are opacities, broad or narrow, usually consisting
DE   of powdery white dots affecting only certain layers or zones between
DE   the cortex and nucleus of an otherwise clear lens. The opacity may be
DE   so dense as to render the entire central region of the lens completely
DE   opaque, or so translucent that vision is hardly if at all impeded.
DE   Zonular cataracts generally do not involve the embryonic nucleus,
DE   though sometimes they involve the fetal nucleus. Usually sharply
DE   separated from a clear cortex outside them, they may have projections
DE   from their outer edges known as riders or spokes. In some cases
DE   cataract is associated with microcornea without any other systemic
DE   anomaly or dysmorphism. Microcornea is defined by a corneal diameter
DE   inferior to 10 mm in both meridians in an otherwise normal eye.
SY   CAE1.
SY   Cataract 1, multiple types, with or without microcornea.
SY   Cataract Duffy-linked.
SY   Cataract-microcornea syndrome.
SY   Cataract zonular pulverulent 1.
SY   CCMC.
SY   CZNP.
SY   CZP.
SY   CZP1.
SY   Pulverulent zonular cataract.
SY   Zonular nuclear pulverulent cataract.
DR   MIM; 116200; phenotype.
DR   MedGen; C1861828.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 10, multiple types.
AC   DI-01423
AR   CTRCT10.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT10 includes congenital zonular with
DE   sutural opacities, among others. This is a form of zonular cataract
DE   with an erect Y-shaped anterior and an inverted Y-shaped posterior
DE   sutural opacities. Zonular or lamellar cataracts are opacities, broad
DE   or narrow, usually consisting of powdery white dots affecting only
DE   certain layers or zones between the cortex and nucleus of an otherwise
DE   clear lens. The opacity may be so dense as to render the entire
DE   central region of the lens completely opaque, or so translucent that
DE   vision is hardly if at all impeded. Zonular cataracts generally do not
DE   involve the embryonic nucleus, though sometimes they involve the fetal
DE   nucleus. Usually sharply separated from a clear cortex outside them,
DE   they may have projections from their outer edges known as riders or
DE   spokes.
SY   Cataract, congenital, zonular with sutural opacities.
SY   CCZS.
DR   MIM; 600881; phenotype.
DR   MedGen; C1833229.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 11, multiple types.
AC   DI-02184
AR   CTRCT11.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT11 includes posterior polar cataract,
DE   among others. Posterior polar cataract is a subcapsular opacity,
DE   usually disk-shaped, located at the back of the lens. Some CTRCT11
DE   patients can present a severe phenotype including microphthalmia and
DE   neurological dysfunction.
SY   Cataract 11 with microphthalmia and neurodevelopmental abnormalities.
SY   Cataract posterior polar 4.
SY   CPP4.
SY   CTPP4.
SY   Syndromic cataract 11.
DR   MIM; 610623; phenotype.
DR   MedGen; C1864567.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 12, multiple types.
AC   DI-01215
AR   CTRCT12.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. The
DE   opacities can be nuclear, sutural, stellate cortical, lamellar,
DE   cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital
DE   or with juvenile- and adult-onset.
DR   MIM; 611597; phenotype.
DR   MedGen; C1969032.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 13, with adult i phenotype.
AC   DI-03830
AR   CTRCT13.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT13
DE   is associated with the rare adult i phenotype, in which adult red
DE   blood cells are rich in i antigen and contain low levels of I antigen.
DR   MIM; 116700; phenotype.
DR   MedGen; C0266539.
DR   MedGen; C1862229.
DR   MedGen; C1862230.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 14, multiple types.
AC   DI-02471
AR   CTRCT14.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT14 includes zonular pulverulent cataract,
DE   among others. Zonular or lamellar cataracts are opacities, broad or
DE   narrow, usually consisting of powdery white dots affecting only
DE   certain layers or zones between the cortex and nucleus of an otherwise
DE   clear lens. The opacity may be so dense as to render the entire
DE   central region of the lens completely opaque, or so translucent that
DE   vision is hardly if at all impeded. Usually sharply separated from a
DE   clear cortex outside them, they may have projections from their outer
DE   edges known as riders or spokes.
SY   CAE3.
SY   CZP3.
SY   Zonular pulverulent cataract 3.
DR   MIM; 601885; phenotype.
DR   MedGen; C1866078.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 15, multiple types.
AC   DI-03782
AR   CTRCT15.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT15 includes polymorphic, progressive
DE   punctate lamellar, cortical, anterior and posterior polar,
DE   nonprogressive lamellar with sutural opacities, embryonic nuclear, and
DE   pulverulent cortical, among others.
DR   MIM; 615274; phenotype.
DR   MedGen; C3809001.
DR   MedGen; CN176767.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 16, multiple types.
AC   DI-02998
AR   CTRCT16.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT16
DE   includes posterior polar cataract, among others. Posterior polar
DE   cataract is a subcapsular opacity, usually disk-shaped, located at the
DE   back of the lens.
SY   Congenital lamellar cataract.
SY   CTPP2.
SY   Posterior polar cataract 2.
DR   MIM; 613763; phenotype.
DR   MedGen; C3151065.
DR   MedGen; C3552997.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 17, multiple types.
AC   DI-01234
AR   CTRCT17.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT17
DE   includes nuclear and pulverulent cataracts, among others. Nuclear
DE   cataracts affect the central nucleus of the eye, are often not highly
DE   visually significant. The density of the opacities varies greatly from
DE   fine dots to a dense, white and chalk-like, central cataract. The
DE   condition is usually bilateral. Nuclear cataracts are often combined
DE   with opacified cortical fibers encircling the nuclear opacity, which
DE   are referred to as cortical riders. Pulverulent cataracts are
DE   characterized by a dust-like, 'pulverised' appearance of the opacities
DE   which can be found in any part of the lens.
SY   Autosomal recessive congenital nuclear cataract 3.
SY   Cataract 17, multiple types, with or without microcornea.
SY   CATCN3.
DR   MIM; 611544; phenotype.
DR   MedGen; C1969062.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 18.
AC   DI-03191
AR   CTRCT18.
DE   An opacification of the crystalline lens of the eye becoming evident
DE   at birth or in infancy. It frequently results in visual impairment or
DE   blindness. Opacities vary in morphology, are often confined to a
DE   portion of the lens, and may be static or progressive. In general, the
DE   more posteriorly located and dense an opacity, the greater the impact
DE   on visual function.
SY   Autosomal recessive congenital cataract 2.
SY   CATC2.
DR   MIM; 610019; phenotype.
DR   MedGen; C1864908.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 2, multiple types.
AC   DI-01425
AR   CTRCT2.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT2 includes Coppock-like cataract, among
DE   others. Coppock-like cataract is a congenital pulverulent disk-like
DE   opacity involving the embryonic nucleus with many tiny white dots in
DE   the lamellar portion of the lens. It is usually bilateral and
DE   dominantly inherited. In some cases, CTRCT2 is associated with
DE   microcornea without any other systemic anomaly or dysmorphism.
DE   Microcornea is defined by a corneal diameter inferior to 10 mm in both
DE   meridians in an otherwise normal eye.
SY   Cataract 2, multiple types, with or without microcornea.
SY   Cataract Coppock-like.
SY   Cataract embryonic nuclear.
SY   CCL.
SY   Variable zonular pulverulent cataract.
DR   MIM; 604307; phenotype.
DR   MedGen; C1852438.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 20, multiple types.
AC   DI-03776
AR   CTRCT20.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT20
DE   includes progressive polymorphic anterior, posterior, or peripheral
DE   cortical.
DR   MIM; 116100; phenotype.
DR   MedGen; C0524524.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 21, multiple types.
AC   DI-01394
AR   CTRCT21.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT21
DE   includes cerulean and pulverulent cataracts. Cerulean cataracts are
DE   characterized by peripheral bluish and white opacifications organized
DE   in concentric layers with occasional central lesions arranged
DE   radially. The opacities are observed in the superficial layers of the
DE   fetal nucleus as well as the adult nucleus of the lens. Involvement is
DE   usually bilateral. Visual acuity is only mildly reduced in childhood.
DE   In adulthood, the opacifications may progress, making lens extraction
DE   necessary. Histologically the lesions are described as fusiform
DE   cavities between lens fibers which contain a deeply staining granular
DE   material. Although the lesions may take on various colors, a dull blue
DE   is the most common appearance and is responsible for the designation
DE   cerulean cataract. Pulverulent cataracts are characterized by a dust-
DE   like, 'pulverised' appearance of the opacities which can be found in
DE   any part of the lens. In some cases cataract is associated with
DE   microcornea without any other systemic anomaly or dysmorphism.
DE   Microcornea is defined by a corneal diameter inferior to 10 mm in both
DE   meridians in an otherwise normal eye.
SY   Cataract, pulverulent or cerulean, with or without microcornea.
SY   Cataract 21, multiple types, with or without microcornea.
SY   Cataract pulverulent juvenile-onset.
SY   CCA4.
SY   Congenital cataract blue dot type 4.
SY   Congenital cataract cerulean type 4.
DR   MIM; 610202; phenotype.
DR   MedGen; C1857768.
DR   MedGen; C1857769.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 22, multiple types.
AC   DI-01233
AR   CTRCT22.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT22
DE   includes nuclear cataract among others. Nuclear cataracts affect the
DE   central nucleus of the eye, and are often not highly visually
DE   significant. The density of the opacities varies greatly from fine
DE   dots to a dense, white and chalk-like, central cataract. The condition
DE   is usually bilateral. Nuclear cataracts are often combined with
DE   opacified cortical fibers encircling the nuclear opacity, which are
DE   referred to as cortical riders.
SY   Autosomal recessive congenital nuclear cataract 2.
SY   CATCN2.
SY   Nuclear cataract 22.
DR   MIM; 609741; phenotype.
DR   MedGen; C1857853.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 23, multiple types.
AC   DI-01874
AR   CTRCT23.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT23
DE   is a zonular cataract. Zonular or lamellar cataracts are opacities,
DE   broad or narrow, usually consisting of powdery white dots affecting
DE   only certain layers or zones between the cortex and nucleus of an
DE   otherwise clear lens. The opacity may be so dense as to render the
DE   entire central region of the lens completely opaque, or so translucent
DE   that vision is hardly if at all impeded. Zonular cataracts generally
DE   do not involve the embryonic nucleus, though sometimes they involve
DE   the fetal nucleus. Usually sharply separated from a clear cortex
DE   outside them, they may have projections from their outer edges known
DE   as riders or spokes.
SY   Isolated microphthalmia with cataract 4.
SY   Lamellar cataract 23.
SY   MCOPCT4.
DR   MIM; 610425; phenotype.
DR   MedGen; C1864879.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 3, multiple types.
AC   DI-01392
AR   CTRCT3.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT3 includes congenital cerulean and sutural
DE   cataract with punctate and cerulean opacities, among others. Cerulean
DE   cataract is characterized by peripheral bluish and white
DE   opacifications organized in concentric layers with occasional central
DE   lesions arranged radially. The opacities are observed in the
DE   superficial layers of the fetal nucleus as well as the adult nucleus
DE   of the lens. Involvement is usually bilateral. Visual acuity is only
DE   mildly reduced in childhood. In adulthood, the opacifications may
DE   progress, making lens extraction necessary. Histologically the lesions
DE   are described as fusiform cavities between lens fibers which contain a
DE   deeply staining granular material. Although the lesions may take on
DE   various colors, a dull blue is the most common appearance and is
DE   responsible for the designation cerulean cataract. Sutural cataract
DE   with punctate and cerulean opacities is characterized by white
DE   opacification around the anterior and posterior Y sutures, and grayish
DE   and bluish, spindle shaped, oval punctate and cerulean opacities of
DE   various sizes arranged in lamellar form. The spots are more
DE   concentrated towards the peripheral layers and do not delineate the
DE   embryonal or fetal nucleus. Phenotypic variation with respect to the
DE   size and density of the sutural opacities as well as the number and
DE   position of punctate and cerulean spots is observed among affected
DE   subjects.
SY   CCA2.
SY   Congenital cataract blue dot type 2.
SY   Congenital cataract cerulean type 2.
SY   CSPC.
SY   Sutural cataract with punctate and cerulean opacities.
DR   MIM; 601547; phenotype.
DR   MedGen; C1832175.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 30, multiple types.
AC   DI-03825
AR   CTRCT30.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
SY   Pulverulent cataract 30.
DR   MIM; 116300; phenotype.
DR   MedGen; C1861827.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 31, multiple types.
AC   DI-02183
AR   CTRCT31.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT31
DE   includes posterior polar, progressive posterior subcapsular, nuclear,
DE   and anterior subcapsular cataracts.
SY   CPP3.
SY   CTPP3.
SY   Posterior polar cataract 3.
DR   MIM; 605387; phenotype.
DR   MedGen; C1854311.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 33, multiple types.
AC   DI-01235
AR   CTRCT33.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT33
DE   has juvenile-onset and the opacities are restricted to the cortex of
DE   the lens, not involving the nucleus.
SY   Cortical cataract 33.
SY   Cortical juvenile-onset cataract.
DR   MIM; 611391; phenotype.
DR   MedGen; C1969644.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 34, multiple types.
AC   DI-04893
AR   CTRCT34.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
SY   Cataract, autosomal recessive congenital 3.
SY   Cataract 34, multiple types, with or without microcornea.
SY   CATC3.
DR   MIM; 612968; phenotype.
DR   MedGen; C2751822.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 36.
AC   DI-03070
AR   CTRCT36.
DE   An opacification of the crystalline lens of the eye becoming evident
DE   at birth. It frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function.
SY   Autosomal recessive congenital cataract 4.
SY   CATC4.
DR   MIM; 613887; phenotype.
DR   MedGen; C3151304.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 38.
AC   DI-03473
AR   CTRCT38.
DE   An opacification of the crystalline lens of the eye becoming evident
DE   at birth. It frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function.
SY   Autosomal recessive congenital cataract 5.
SY   CATC5.
DR   MIM; 614691; phenotype.
DR   MedGen; C3553494.
DR   MedGen; CN128904.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 39, multiple types.
AC   DI-03806
AR   CTRCT39.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT39
DE   includes lamellar, anterior polar, and complete cataracts.
DR   MIM; 615188; phenotype.
DR   MedGen; C3554655.
DR   MedGen; CN168984.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 4, multiple types.
AC   DI-01456
AR   CTRCT4.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT4 includes crystalline aculeiform,
DE   congenital cerulean and non-nuclear polymorphic cataracts, among
DE   others. Crystalline aculeiform cataract is characterized by
DE   fiberglass-like or needle-like crystals projecting in different
DE   directions, through or close to the axial region of the lens. Non-
DE   nuclear polymorphic cataract is a partial opacity with variable
DE   location between the fetal nucleus of the lens and the equator. The
DE   fetal nucleus is normal. The opacities are irregular and look similar
DE   to a bunch of grapes and may be present simultaneously in different
DE   lens layers. Congenital cerulean cataract is characterized by
DE   peripheral bluish and white opacifications organized in concentric
DE   layers with occasional central lesions arranged radially. The
DE   opacities are observed in the superficial layers of the fetal nucleus
DE   as well as the adult nucleus of the lens. Involvement is usually
DE   bilateral. Visual acuity is only mildly reduced in childhood. In
DE   adulthood, the opacifications may progress, making lens extraction
DE   necessary. Histologically the lesions are described as fusiform
DE   cavities between lens fibers which contain a deeply staining granular
DE   material. Although the lesions may take on various colors, a dull blue
DE   is the most common appearance and is responsible for the designation
DE   cerulean cataract.
SY   Aculeiform cataract.
SY   CACA.
SY   Cataract 4, multiple types, with or without microcornea.
SY   CCA3.
SY   CCP.
SY   Congenital cataract blue dot type 3.
SY   Congenital cataract cerulean type 3.
SY   Congenital non-nuclear polymorphic cataract.
SY   Crystalline aculeiform cataract.
SY   PCC.
SY   Punctate, progressive juvenile-onset, cataract.
DR   MIM; 115700; phenotype.
DR   MedGen; C1852422.
DR   MedGen; C1861832.
DR   MedGen; C3540850.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 40.
AC   DI-02922
AR   CTRCT40.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT40 manifests as a congenital nuclear
DE   opacity with severe visual impairment in affected males. Heterozygous
DE   females have suture cataracts and only slight reduction in vision. In
DE   some cases, cataract is associated with microcornea without any other
DE   systemic anomaly or dysmorphism. Microcornea is defined by a corneal
DE   diameter inferior to 10 mm in both meridians in an otherwise normal
DE   eye.
SY   Cataract 40 with or without microcornea.
SY   CCT.
SY   Congenital total cataract with posterior sutural opacities in heterozygotes.
SY   X-linked congenital cataract.
DR   MIM; 302200; phenotype.
DR   MedGen; C2752078.
DR   MedGen; C2930878.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 41.
AC   DI-04010
AR   CTRCT41.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive.
SY   Congenital nuclear cataract 41.
DR   MIM; 116400; phenotype.
DR   MedGen; C1861826.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 42.
AC   DI-04171
AR   CTRCT42.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
DR   MIM; 115900; phenotype.
DR   MedGen; C1861830.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 43.
AC   DI-04361
AR   CTRCT43.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
DR   MIM; 616279; phenotype.
DR   MedGen; CN228776.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 44.
AC   DI-04502
AR   CTRCT44.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
SY   Cataract and hypotrichosis.
DR   MIM; 616509; phenotype.
DR   MedGen; CN232096.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 45.
AC   DI-04671
AR   CTRCT45.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
DR   MIM; 616851; phenotype.
DR   MedGen; CN235470.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy.
AC   DI-04739
AR   CTRCT46.
DE   A form of cataract, an opacification of the crystalline lens of the
DE   eye that frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function. CTRCT46 can be associated with variable onset of a
DE   severe form of arrhythmic cardiomyopathy resulting in sudden cardiac
DE   death.
SY   Cataract, juvenile, Hutterite type.
SY   Cataract Hutterite type.
DR   MIM; 212500; phenotype.
DR   MedGen; C2931791.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 47.
AC   DI-01327
AR   CTRCT47.
DE   A form of cataract, an opacification of the crystalline lens of the
DE   eye that frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function. CTRCT47 is characterized by the association of
DE   cataract with microcornea and renal glucosuria. Microcornea is defined
DE   by a corneal diameter inferior to 10 mm in both meridians in an
DE   otherwise normal eye. Renal glucosuria is defined by elevated glucose
DE   level in the urine without hyperglycemia and without evidence of
DE   morphological renal anomalies.
SY   Cataract, juvenile, with microcornea.
SY   Cataract, juvenile, with microcornea and glucosuria.
SY   Cataract 47, juvenile, with microcornea.
SY   CJMG.
DR   MIM; 612018; phenotype.
DR   MedGen; C2677587.
DR   MeSH; D002386.
DR   MeSH; D006030.
KW   KW-0898:Cataract.
//
ID   Cataract 48.
AC   DI-05553
AR   CTRCT48.
DE   A form of cataract, an opacification of the crystalline lens of the
DE   eye that frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function. CTRCT48 is an autosomal recessive form characterized
DE   by infantile or early-childhood onset.
DR   MIM; 618415; phenotype.
DR   MedGen; CN258369.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 49.
AC   DI-06237
AR   CTRCT49.
DE   A form of cataract, an opacification of the crystalline lens of the
DE   eye that frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function. CTRCT49 is an autosomal dominant form characterized
DE   by congenital cataract located in the posterior region of the lens.
DE   Visual impairment has onset in early childhood.
SY   Cataract 49, posterior.
DR   MIM; 619593; phenotype.
DR   MedGen; CN301093.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 5, multiple types.
AC   DI-02507
AR   CTRCT5.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT5 includes infantile, lamellar, zonular,
DE   nuclear, anterior polar, stellate, and Marner-type cataracts, among
DE   others. Finger malformation is observed in some kindreds.
SY   CAM.
SY   Cataract Marner type.
SY   CTM.
DR   MIM; 116800; phenotype.
DR   MedGen; C0266537.
DR   MedGen; C1861821.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 50 with or without glaucoma.
AC   DI-06610
AR   CTRCT50.
DE   A form of cataract, an opacification of the crystalline lens of the
DE   eye that frequently results in visual impairment or blindness.
DE   Opacities vary in morphology, are often confined to a portion of the
DE   lens, and may be static or progressive. In general, the more
DE   posteriorly located and dense an opacity, the greater the impact on
DE   visual function. CTRCT50 is an autosomal dominant form characterized
DE   by early onset. Affected individuals may also exhibit high-tension
DE   glaucoma and variable anterior segment defects.
DR   MIM; 620253; phenotype.
DR   MedGen; CN323383.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 6, multiple types.
AC   DI-02506
AR   CTRCT6.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. CTRCT6 includes posterior polar and age-related
DE   cortical cataracts, among others. Posterior polar cataract is a
DE   subcapsular opacity, usually disk-shaped, located at the back of the
DE   lens. Age-related cortical cataract is a developmental punctate
DE   opacity restricted to the cortex. The cataract is white or cerulean,
DE   increases in number with age, but rarely affects vision.
SY   Age-related cortical cataract 2.
SY   ARCC2.
SY   Cataract posterior polar 1.
SY   CTPA.
SY   CTPP.
SY   CTPP1.
DR   MIM; 116600; phenotype.
DR   MedGen; C1861825.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 9, multiple types.
AC   DI-01200
AR   CTRCT9.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function. CTRCT9
DE   includes nuclear, zonular central nuclear, anterior polar, cortical,
DE   embryonal, anterior subcapsular, fan-shaped, and total cataracts,
DE   among others. In some cases cataract is associated with microcornea
DE   without any other systemic anomaly or dysmorphism. Microcornea is
DE   defined by a corneal diameter inferior to 10 mm in both meridians in
DE   an otherwise normal eye.
SY   Autosomal dominant congenital cataract.
SY   Autosomal recessive congenital cataract 1.
SY   Cataract 9, multiple types, with or without microcornea.
SY   Cataract autosomal dominant.
SY   CATC1.
DR   MIM; 604219; phenotype.
DR   MedGen; C1858679.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract, multiple types 19.
AC   DI-03783
AR   CTRCT19.
DE   An opacification of the crystalline lens of the eye that frequently
DE   results in visual impairment or blindness. Opacities vary in
DE   morphology, are often confined to a portion of the lens, and may be
DE   static or progressive. In general, the more posteriorly located and
DE   dense an opacity, the greater the impact on visual function.
DR   MIM; 615277; phenotype.
DR   MedGen; C3809004.
DR   MedGen; CN176771.
DR   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.
AC   DI-04264
AR   CAGSSS.
DE   An autosomal recessive disorder characterized by cataracts, short-
DE   stature secondary to growth hormone deficiency, sensorineural hearing
DE   deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis,
DE   and facial dysmorphism.
DR   MIM; 616007; phenotype.
DR   MedGen; CN221141.
DR   MeSH; D001848.
DR   MeSH; D002386.
DR   MeSH; D006319.
DR   MeSH; D009477.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
KW   KW-0898:Cataract.
//
ID   Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1.
AC   DI-06695
AR   CHINE1.
DE   An X-linked dominant disorder characterized by infantile onset of
DE   steroid-resistant nephrotic syndrome, cataracts, sensorineural
DE   deafness, and enterocolitis. Males are more severely affected than
DE   females, and death occurs in early childhood. Affected females develop
DE   early-onset hearing impairment, early-onset cataracts, but only rarely
DE   have nephrotic syndrome. They do not have enterocolitis.
DR   MIM; 301108; phenotype.
DR   MedGen; CN372217.
DR   MeSH; D002386.
DR   MeSH; D003638.
DR   MeSH; D009404.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
//
ID   Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.
AC   DI-06696
AR   CHINE2.
DE   An autosomal recessive disorder characterized by infantile onset of
DE   steroid-resistant nephrotic syndrome, cataracts, sensorineural
DE   deafness, and enterocolitis. It results in death in early childhood.
DR   MIM; 620425; phenotype.
DR   MedGen; CN372218.
DR   MeSH; D002386.
DR   MeSH; D003638.
DR   MeSH; D009404.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
//
ID   Cataracts, spastic paraparesis, and speech delay.
AC   DI-06115
AR   CSPSD.
DE   An autosomal dominant disease characterized by bilateral cataracts
DE   apparent at birth or in infancy, spastic paraparesis, truncal
DE   hypotonia, delayed psychomotor development, and speech delay.
DR   MIM; 619338; phenotype.
DR   MedGen; CN296801.
DR   MeSH; D002386.
DR   MeSH; D009461.
KW   KW-0898:Cataract.
//
ID   Catel-Manzke syndrome.
AC   DI-04301
AR   CATMANS.
DE   A syndrome characterized by Pierre Robin sequence and a unique form of
DE   bilateral hyperphalangy causing a clinodactyly of the index finger.
DE   Pierre Robin sequence includes an opening in the roof of the mouth (a
DE   cleft palate), a large tongue (macroglossia), and a small lower jaw
DE   (micrognathia).
SY   Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome.
SY   Index finger anomaly with Pierre Robin syndrome.
SY   Micrognathia digital syndrome.
SY   Palatodigital syndrome, Catel-Manzke type.
SY   Pierre Robin syndrome with hyperphalangy and clinodactyly.
DR   MIM; 616145; phenotype.
DR   MedGen; C1844887.
DR   MeSH; D006228.
DR   MeSH; D010855.
//
ID   CATIFA syndrome.
AC   DI-05742
AR   CATIFA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, intellectual disability, and behavioral abnormalities with mild
DE   to severe attention-deficit hyperactivity disorder. Motor, speech and
DE   cognitive deficits range from mild to severe. Patients show
DE   craniofacial dysmorphism including elongated face, short, broad
DE   upturned nose with anteverted nares and long philtrum. Additional
DE   clinical features are cleft lip/palate, tooth abnormalities, and
DE   visual impairment due to cataract, strabismus and poor visual
DE   tracking.
SY   Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder.
DR   MIM; 618761; phenotype.
DR   MedGen; CN263223.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Caudal duplication anomaly.
AC   DI-02877
AR   CADUA.
DE   A condition characterized by the occurrence of duplications of
DE   different organs in the caudal region.
DR   MIM; 607864; phenotype.
DR   MedGen; C1842884.
DR   MeSH; D000015.
//
ID   Cavitary optic disc anomalies.
AC   DI-04537
AR   CODA.
DE   An ocular disease characterized by a profound excavation of the optic
DE   nerve. Clinical phenotype is variable and includes congenitally
DE   excavated optic nerves as well as other features of optic pit, optic
DE   nerve coloboma, and morning glory disk anomaly. Patients with CODA
DE   have a strong predilection for retinal detachment and/or separation of
DE   the retinal layers (retinoschisis) that lead to profound central
DE   vision loss.
DR   MIM; 611543; phenotype.
DR   MedGen; C1969063.
DR   MeSH; D015785.
//
ID   CD8 deficiency, familial.
AC   DI-01560
AR   CD8 deficiency.
DE   An immunologic defect characterized by absence of CD8+ cells, leading
DE   to recurrent bacterial infections.
DR   MIM; 608957; phenotype.
DR   MedGen; C1837065.
DR   MeSH; D007153.
//
ID   CEBALID syndrome.
AC   DI-05758
AR   CEBALID.
DE   An autosomal dominant developmental disorder characterized by global
DE   developmental delay, intellectual disability with severe expressive
DE   language delay, craniofacial dysmorphism, and structural brain
DE   abnormalities. Most patients have an atypical form of
DE   rhombencephalosynapsis, a distinctive brain malformation characterized
DE   by partial or complete loss of the cerebellar vermis with fusion of
DE   the cerebellar hemispheres. Other frequent features include
DE   perisylvian polymicrogyria, abnormal posterior clinoid processes,
DE   cerebellar hypoplasia or dysplasia, and persistent trigeminal artery.
SY   Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development.
SY   MCTT.
SY   MN1 C-terminal truncation syndrome.
DR   MIM; 618774; phenotype.
DR   MedGen; CN263278.
DR   MeSH; D008607.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Celiac disease 13.
AC   DI-02885
AR   CELIAC13.
DE   A multifactorial, chronic disorder of the small intestine caused by
DE   intolerance to gluten. It is characterized by immune-mediated
DE   enteropathy associated with failed intestinal absorption, and
DE   malnutrition. In predisposed individuals, the ingestion of gluten-
DE   containing food such as wheat and rye induces a flat jejunal mucosa
DE   with infiltration of lymphocytes.
SY   Gluten-sensitive enteropathy 13.
DR   MIM; 612011; phenotype.
DR   MedGen; C2677601.
DR   MeSH; D002446.
//
ID   Celiac disease 3.
AC   DI-02883
AR   CELIAC3.
DE   A multifactorial, chronic disorder of the small intestine caused by
DE   intolerance to gluten. It is characterized by immune-mediated
DE   enteropathy associated with failed intestinal absorption, and
DE   malnutrition. In predisposed individuals, the ingestion of gluten-
DE   containing food such as wheat and rye induces a flat jejunal mucosa
DE   with infiltration of lymphocytes.
SY   Gluten-sensitive enteropathy 3.
DR   MIM; 609755; phenotype.
DR   MedGen; C1857845.
DR   MeSH; D002446.
//
ID   Celiac disease 4.
AC   DI-02884
AR   CELIAC4.
DE   A multifactorial, chronic disorder of the small intestine caused by
DE   intolerance to gluten. It is characterized by immune-mediated
DE   enteropathy associated with failed intestinal absorption, and
DE   malnutrition. In predisposed individuals, the ingestion of gluten-
DE   containing food such as wheat and rye induces a flat jejunal mucosa
DE   with infiltration of lymphocytes.
SY   Gluten-sensitive enteropathy 4.
DR   MIM; 609753; phenotype.
DR   MedGen; C1857847.
DR   MeSH; D002446.
//
ID   Cenani-Lenz syndactyly syndrome.
AC   DI-02834
AR   CLSS.
DE   A congenital malformation syndrome defined as complete and complex
DE   syndactyly of the hands combined with malformations of the forearm
DE   bones and similar manifestations in the lower limbs. It is
DE   characterized by fusion and disorganization of metacarpal and
DE   phalangeal bones, radius and ulnar shortening, radioulnar synostosis,
DE   and severe syndactyly of hands and feet.
SY   Cenani-Lenz syndactyly.
SY   Cenani-Lenz syndrome.
SY   Cenani syndactylism.
SY   Syndactyly type 7.
SY   Syndactyly type VII.
DR   MIM; 212780; phenotype.
DR   MedGen; C1859309.
DR   MeSH; D013576.
//
ID   Central hypoventilation syndrome, congenital, 1.
AC   DI-01391
AR   CCHS1.
DE   An autosomal dominant form of congenital central hypoventilation
DE   syndrome, a rare disorder characterized by abnormal control of
DE   respiration in the absence of neuromuscular or lung disease, or an
DE   identifiable brain stem lesion. A deficiency in autonomic control of
DE   respiration results in inadequate or negligible ventilatory and
DE   arousal responses to hypercapnia and hypoxemia.
SY   CCHS.
SY   Central hypoventilation syndrome, congenital.
SY   Congenital failure of autonomic control.
SY   Ondine curse.
DR   MIM; 209880; phenotype.
DR   MedGen; C1275808.
DR   MedGen; C1859049.
DR   MedGen; C1876168.
DR   MeSH; D007040.
DR   MeSH; D020182.
//
ID   Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.
AC   DI-06200
AR   CCHS2.
DE   An autosomal recessive form of congenital central hypoventilation
DE   syndrome, a rare disorder characterized by abnormal control of
DE   respiration in the absence of neuromuscular, lung or cardiac disease,
DE   or an identifiable brainstem lesion. CCHS2 is characterized by shallow
DE   breathing and apneic spells apparent in the neonatal period. Some
DE   patients have other features of autonomic dysfunction, including
DE   bladder dysfunction, sinus bradycardia, and temperature dysregulation.
DR   MIM; 619482; phenotype.
DR   MedGen; CN300369.
DR   MeSH; D001049.
DR   MeSH; D007040.
//
ID   Central hypoventilation syndrome, congenital, 3.
AC   DI-06215
AR   CCHS3.
DE   A form of congenital central hypoventilation syndrome, a rare disorder
DE   characterized by abnormal control of respiration in the absence of
DE   neuromuscular, lung or cardiac disease, or an identifiable brainstem
DE   lesion. CCHS3 is an autosomal recessive, neonatal form characterized
DE   by slow and shallow breathing due to a deficiency in autonomic control
DE   of respiration. Affected individuals present with respiratory
DE   insufficiency and absence of the hypercapnic reflex that stimulates
DE   breathing. Additional features include gastrointestinal problems, poor
DE   heat tolerance and paroxysmal hypertension.
DR   MIM; 619483; phenotype.
DR   MedGen; CN300491.
DR   MeSH; D001049.
DR   MeSH; D007040.
//
ID   Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.
AC   DI-04236
AR   CAPOS.
DE   An autosomal dominant neurologic disorder characterized by relapsing
DE   and partially remitting, early-onset cerebellar ataxia following a
DE   febrile illness. Other features include progressive optic atrophy and
DE   sensorineural hearing loss, generalized hypotonia, areflexia and pes
DE   cavus without evidence of a peripheral neuropathy on
DE   neurophysiological studies.
SY   CAPOS syndrome.
DR   MIM; 601338; phenotype.
DR   MedGen; C1832466.
DR   MeSH; D002524.
DR   MeSH; D005532.
DR   MeSH; D006319.
DR   MeSH; D009896.
KW   KW-0209:Deafness.
//
ID   Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.
AC   DI-06242
AR   CABAC.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development and speech delay that are
DE   observed in most patients. Disease manifestations are variable and
DE   include infantile-onset hypotonia, poor motor development, poor
DE   feeding and overall growth, and ataxic gait due to cerebellar ataxia.
DE   Additional variable features are dysarthria, nystagmus, variable
DE   ocular anomalies, spasticity, hyperreflexia, and non-specific
DE   dysmorphic features. Brain imaging shows cerebellar hypoplasia, often
DE   with brainstem hypoplasia, enlarged ventricles, delayed myelination,
DE   and thin corpus callosum. A significant number of patients develop
DE   cardiac conduction defects in childhood or adolescence.
DR   MIM; 619576; phenotype.
DR   MedGen; CN301080.
DR   MeSH; D000075224.
DR   MeSH; D001927.
DR   MeSH; D009461.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar ataxia, cayman type.
AC   DI-01333
AR   ATCAY.
DE   Found in a population isolate on Grand Cayman Island and causes a
DE   marked psychomotor retardation and prominent nonprogressive cerebellar
DE   dysfunction including nystagmus, intention tremor, dysarthria, and
DE   wide-based ataxic gait. Hypotonia is present from early childhood.
DR   MIM; 601238; phenotype.
DR   MedGen; C1832585.
//
ID   Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.
AC   DI-03793
AR   ADCADN.
DE   An autosomal dominant neurologic disorder characterized by adult onset
DE   of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural
DE   deafness, and dementia. More variable features include optic atrophy,
DE   sensory neuropathy, psychosis, and depression.
DR   MIM; 604121; phenotype.
DR   MedGen; C1858804.
DR   MeSH; D002524.
DR   MeSH; D006319.
DR   MeSH; D009290.
KW   KW-0209:Deafness.
//
ID   Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1.
AC   DI-02742
AR   CAMRQ1.
DE   An autosomal recessive, congenital, non-progressive cerebellar ataxia
DE   associated with disturbed equilibrium, delayed ambulation,
DE   intellectual disability, cerebellar hypoplasia and mild cerebral gyral
DE   simplification. Additional features include short stature, strabismus,
DE   pes planus and, rarely, seizures.
SY   Cerebellar hypoplasia VLDLR-associated.
SY   DES.
SY   Dysequilibrium syndrome.
DR   MIM; 224050; phenotype.
DR   MedGen; C0394006.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.
AC   DI-03450
AR   CAMRQ2.
DE   An autosomal recessive, congenital cerebellar ataxia associated with
DE   cerebellar hypoplasia, intellectual disability, and inability to walk
DE   bipedally, resulting in quadrupedal locomotion as a functional
DE   adaptation. Additional findings include generalized brain atrophy and
DE   mild hypoplasia of the corpus callosum.
DR   MIM; 610185; phenotype.
DR   MedGen; C2750234.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.
AC   DI-02743
AR   CAMRQ3.
DE   An autosomal recessive, congenital cerebellar ataxia associated with
DE   dysarthia, quadrupedal gait and intellectual disability.
DR   MIM; 613227; phenotype.
DR   MedGen; C2750509.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4.
AC   DI-03773
AR   CAMRQ4.
DE   An autosomal recessive, congenital cerebellar ataxia associated with
DE   dysarthia, quadrupedal gait and intellectual disability.
DR   MIM; 615268; phenotype.
DR   MedGen; C3808977.
DR   MedGen; CN176751.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
AC   DI-05548
AR   CANVAS.
DE   An autosomal recessive neurologic disease characterized by imbalance,
DE   cerebellar ataxia, impaired vestibular function, and non-length-
DE   dependent sensory deficit.
DR   MIM; 614575; phenotype.
DR   MedGen; C3281223.
DR   MeSH; D009461.
KW   KW-0622:Neuropathy.
//
ID   Cerebellar atrophy with seizures and variable developmental delay.
AC   DI-05616
AR   CASVDD.
DE   An autosomal recessive neurologic disorder characterized by cerebellar
DE   ataxia, atrophy of the cerebellar vermis, severe refractory seizures
DE   with early onset, and global developmental delay compatible with
DE   epileptic encephalopathy in most patients. Disease severity is
DE   variable and normal cognitive development has also been reported.
DR   MIM; 618501; phenotype.
DR   MedGen; CN261027.
DR   MeSH; D004827.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Cerebellar atrophy, developmental delay, and seizures.
AC   DI-05076
AR   CADEDS.
DE   An autosomal recessive disease characterized by epilepsy,
DE   developmental delay and severe cerebellar atrophy.
DR   MIM; 617643; phenotype.
DR   MedGen; CN424851.
DR   MeSH; D004827.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Cerebellar atrophy, visual impairment, and psychomotor retardation.
AC   DI-04673
AR   CAVIPMR.
DE   An autosomal recessive, neurodegenerative disorder characterized by
DE   developmental delay, intellectual disability, hypotonia, scoliosis,
DE   cerebellar atrophy, and variable dysmorphic features.
DR   MIM; 616875; phenotype.
DR   MedGen; CN235863.
DR   MeSH; D002526.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Cerebellar dysfunction with variable cognitive and behavioral abnormalities.
AC   DI-03530
AR   CECBA.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   mildly delayed psychomotor development, early onset of cerebellar
DE   ataxia, and intellectual disability later in childhood and adult life.
DE   Other features may include neonatal hypotonia, dysarthria, and
DE   dysmetria. Brain imaging in some patients shows cerebellar atrophy.
DE   Dysmorphic facial features are variable.
SY   CANPMR.
DR   MIM; 614756; phenotype.
DR   MedGen; C3553661.
DR   MedGen; CN142515.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.
AC   DI-06352
AR   CDIDHH.
DE   An autosomal recessive disorder characterized by delayed motor
DE   development, ataxia with cerebellar hypoplasia, severe progressive
DE   scoliosis, moderate to severe intellectual disability, and delayed
DE   puberty with congenital hypogonadotropic hypogonadism.
DR   MIM; 619761; phenotype.
DR   MedGen; CN306734.
DR   MeSH; D002526.
DR   MeSH; D007006.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.
AC   DI-05744
AR   CHEGDD.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   infantile onset of hypotonia, global developmental delay, delayed
DE   walking, and severely impaired intellectual development with profound
DE   speech delay. Patients manifest cerebellar atrophy and childhood-onset
DE   epilepsy.
DR   MIM; 213000; phenotype.
DR   MedGen; C0266470.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellar, ocular, craniofacial, and genital syndrome.
AC   DI-05597
AR   COFG.
DE   An autosomal recessive syndrome characterized by moderate to severe
DE   developmental delay, intellectual disability, cerebellar hypoplasia
DE   with ataxia, variable microcephaly, ophthalmological anomalies, facial
DE   dysmorphism, absent or underdeveloped nipples, underdeveloped
DE   labioscrotal folds and scrotal agenesis.
DR   MIM; 618479; phenotype.
DR   MedGen; CN260096.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Cerebellofaciodental syndrome.
AC   DI-04315
AR   CFDS.
DE   An autosomal recessive disorder characterized by cerebellar
DE   hypoplasia, delayed development and intellectual disability, as well
DE   as facial dysmorphic features, short stature, microcephaly, and dental
DE   anomalies.
SY   Cerebellar-facial-dental syndrome.
DR   MIM; 616202; phenotype.
DR   MedGen; CN225198.
DR   MeSH; D002526.
DR   MeSH; D004392.
DR   MeSH; D008607.
DR   MeSH; D019066.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Cerebral amyloid angiopathy, APP-related.
AC   DI-00097
AR   CAA-APP.
DE   A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s)
DE   deposition in the cerebral vessels. The principal clinical
DE   characteristics are recurrent cerebral and cerebellar hemorrhages,
DE   recurrent strokes, cerebral ischemia, cerebral infarction, and
DE   progressive mental deterioration. Patients develop cerebral hemorrhage
DE   because of the severe cerebral amyloid angiopathy. Parenchymal amyloid
DE   deposits are rare and largely in the form of pre-amyloid lesions or
DE   diffuse plaque-like structures. They are Congo red negative and lack
DE   the dense amyloid cores commonly present in Alzheimer disease. Some
DE   affected individuals manifest progressive aphasic dementia,
DE   leukoencephalopathy, and occipital calcifications.
SY   Amyloidosis cerebroarterial APP-related.
SY   Amyloidosis hereditary with cerebral hemorrhage Dutch variant.
SY   Cerebral amyloid angiopathy APP-related Arctic variant.
SY   Cerebral amyloid angiopathy APP-related Dutch variant.
SY   Cerebral amyloid angiopathy APP-related Flemish variant.
SY   Cerebral amyloid angiopathy APP-related Iowa variant.
SY   Cerebral amyloid angiopathy APP-related Italian variant.
SY   Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia.
SY   FOCHS-LADD.
SY   HCHWAD.
SY   HCHWA-D.
SY   Hereditary cerebral amyloid angiopathy Dutch type.
SY   Hereditary cerebral hemorrhage with amyloidosis Dutch type.
SY   Hereditary cerebral hemorrhage with amyloidosis Italian type.
DR   MIM; 605714; phenotype.
DR   MedGen; C2751536.
DR   MedGen; C2931672.
DR   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Cerebral amyloid angiopathy, ITM2B-related 1.
AC   DI-02619
AR   CAA-ITM2B1.
DE   A disorder characterized by amyloid deposition in the walls of
DE   cerebral blood vessels and neurodegeneration in the central nervous
DE   system. Cerebral amyloid angiopathy, non-neuritic and perivascular
DE   plaques and neurofibrillary tangles are the predominant pathological
DE   lesions. Clinical features include progressive mental deterioration,
DE   spasticity and muscular rigidity.
SY   Cerebral amyloid angiopathy British type.
SY   Familial British dementia.
SY   FBD.
SY   Presenile dementia with spastic ataxia.
DR   MIM; 176500; phenotype.
DR   MedGen; C1867773.
DR   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Cerebral amyloid angiopathy, ITM2B-related 2.
AC   DI-02617
AR   CAA-ITM2B2.
DE   A disorder characterized by amyloid deposition in the walls of the
DE   blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord
DE   and retina. Plaques and neurofibrillary tangles are observed in the
DE   hippocampus. Clinical features include progressive ataxia, dementia,
DE   cataracts and deafness.
SY   Cerebellar ataxia cataract deafness and dementia or psychosis.
SY   Familial Danish dementia.
SY   FDD.
SY   Heredopathia ophthalmootoencephalica.
SY   HOOE.
DR   MIM; 117300; phenotype.
DR   MedGen; C1861735.
DR   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1.
AC   DI-01334
AR   CADASIL1.
DE   A cerebrovascular disease characterized by multiple subcortical
DE   infarcts, pseudobulbar palsy, dementia, and the presence of granular
DE   deposits in small cerebral arteries producing ischemic stroke.
SY   CADASIL.
SY   CASIL.
SY   Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant.
SY   Dementia hereditary multiinfarct type.
SY   Dementia hereditary multi-infarct type.
DR   MIM; 125310; phenotype.
DR   MedGen; C0751587.
DR   MedGen; C1272305.
DR   MeSH; D046589.
//
ID   Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2.
AC   DI-04641
AR   CADASIL2.
DE   A cerebrovascular disease characterized by multiple subcortical
DE   infarcts, pseudobulbar palsy, dementia, and the presence of granular
DE   deposits in small cerebral arteries producing ischemic stroke.
SY   Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.
SY   Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2.
DR   MIM; 616779; phenotype.
DR   MedGen; CN235016.
DR   MeSH; D046589.
//
ID   Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy.
AC   DI-02549
AR   CARASIL.
DE   A cerebrovascular disease characterized by non-hypertensive
DE   arteriopathy of cerebral small vessels with subcortical infarcts,
DE   alopecia, and spondylosis. Small cerebral arteries show
DE   arteriosclerotic changes, fibrous intimal proliferation, and hyaline
DE   degeneration with splitting of the intima and/or the internal elastic
DE   membrane. Neurologic features include progressive dementia, gait
DE   disturbances, extrapyramidal and pyramidal signs, and demyelination of
DE   the cerebral white matter with sparing of U fibers.
SY   CARASIL syndrome.
SY   Cerebrovascular disease with thin skin, alopecia, and disk disease.
SY   Maeda syndrome.
SY   Progressive subcortical vascular encephalopathy.
SY   Subcortical vascular encephalopathy, progressive.
DR   MIM; 600142; phenotype.
DR   MedGen; C1838577.
DR   MeSH; D015140.
//
ID   Cerebral cavernous malformations 1.
AC   DI-00255
AR   CCM1.
DE   A form of cerebral cavernous malformations, a congenital vascular
DE   anomaly of the central nervous system that can result in hemorrhagic
DE   stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE   The lesions are characterized by grossly enlarged blood vessels
DE   consisting of a single layer of endothelium and without any
DE   intervening neural tissue, ranging in diameter from a few millimeters
DE   to several centimeters. CCM1 inheritance is autosomal dominant.
SY   Cavernous angiomatous malformations.
SY   Cavernous hemangioma of the brain.
SY   Cerebral capillary malformations.
SY   Cerebral cavernoma.
SY   Familial cavernous angioma.
DR   MIM; 116860; phenotype.
DR   MedGen; C1861784.
DR   MedGen; C1861785.
DR   MedGen; C1861786.
DR   MedGen; C2919945.
DR   MedGen; CN042719.
DR   MeSH; D020786.
//
ID   Cerebral cavernous malformations 2.
AC   DI-00256
AR   CCM2.
DE   A form of cerebral cavernous malformations, a congenital vascular
DE   anomaly of the central nervous system that can result in hemorrhagic
DE   stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE   The lesions are characterized by grossly enlarged blood vessels
DE   consisting of a single layer of endothelium and without any
DE   intervening neural tissue, ranging in diameter from a few millimeters
DE   to several centimeters. CCM2 inheritance is autosomal dominant.
SY   Cavernous angiomatous malformations.
SY   Cavernous hemangioma of the brain.
SY   Cerebral capillary malformations.
SY   Cerebral cavernoma.
SY   Familial cavernous angioma.
DR   MIM; 603284; phenotype.
DR   MedGen; C1864041.
DR   MeSH; D020786.
//
ID   Cerebral cavernous malformations 3.
AC   DI-00257
AR   CCM3.
DE   A form of cerebral cavernous malformations, a congenital vascular
DE   anomaly of the central nervous system that can result in hemorrhagic
DE   stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE   The lesions are characterized by grossly enlarged blood vessels
DE   consisting of a single layer of endothelium and without any
DE   intervening neural tissue, ranging in diameter from a few millimeters
DE   to several centimeters. CCM3 inheritance is autosomal dominant.
SY   Cavernous angiomatous malformations.
SY   Cavernous hemangioma of the brain.
SY   Cerebral capillary malformations.
SY   Cerebral cavernoma.
SY   Familial cavernous angioma.
DR   MIM; 603285; phenotype.
DR   MedGen; C1864040.
DR   MeSH; D020786.
//
ID   Cerebral cavernous malformations 4.
AC   DI-06256
AR   CCM4.
DE   A form of cerebral cavernous malformations, a congenital vascular
DE   anomaly of the central nervous system that can result in hemorrhagic
DE   stroke, seizures, recurrent headaches, and focal neurologic deficits.
DE   The lesions are characterized by grossly enlarged blood vessels
DE   consisting of a single layer of endothelium and without any
DE   intervening neural tissue, ranging in diameter from a few millimeters
DE   to several centimeters. CCM4 cases occur sporadically.
DR   MIM; 619538; phenotype.
DR   MedGen; CN119550.
DR   MeSH; D020786.
//
ID   Cerebral creatine deficiency syndrome 1.
AC   DI-02440
AR   CCDS1.
DE   An X-linked disorder of creatine transport characterized by
DE   intellectual disability, severe speech delay, behavioral
DE   abnormalities, and seizures. Carrier females may show mild
DE   neuropsychologic impairment.
SY   Creatine transporter defect.
SY   X-linked creatine deficiency syndrome.
DR   MIM; 300352; phenotype.
DR   MedGen; C1845862.
DR   MeSH; D020739.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Cerebral creatine deficiency syndrome 2.
AC   DI-01690
AR   CCDS2.
DE   An autosomal recessive disorder characterized by developmental delay
DE   and regression, intellectual disability, severe disturbance of
DE   expressive and cognitive speech, intractable seizures, movement
DE   disturbances, severe depletion of creatine and phosphocreatine in the
DE   brain, and accumulation of guanidinoacetic acid in brain and body
DE   fluids.
SY   Creatine deficiency syndrome due to GAMT deficiency.
SY   GAMT deficiency.
SY   Guanidinoacetate methyltransferase deficiency.
DR   MIM; 612736; phenotype.
DR   MedGen; C0574080.
DR   MeSH; D007805.
DR   MeSH; D009069.
//
ID   Cerebral creatine deficiency syndrome 3.
AC   DI-01189
AR   CCDS3.
DE   An autosomal recessive disorder characterized by developmental
DE   delay/regression, intellectual disability, severe disturbance of
DE   expressive and cognitive speech, and severe depletion of
DE   creatine/phosphocreatine in the brain. Most patients develop a
DE   myopathy characterized by muscle weakness and atrophy later in life.
SY   AGAT deficiency.
SY   Arginine:glycine amidinotransferase deficiency.
SY   Creatine deficiency syndrome due to AGAT deficiency.
SY   GATM deficiency.
DR   MIM; 612718; phenotype.
DR   MedGen; C2675179.
DR   MeSH; D000592.
DR   MeSH; D008607.
//
ID   Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.
AC   DI-00251
AR   CEDNIK.
DE   A neurocutaneous syndrome characterized by cerebral dysgenesis,
DE   neuropathy, ichthyosis and palmoplantar keratoderma.
SY   CEDNIK syndrome.
DR   MIM; 609528; phenotype.
DR   MedGen; C1836033.
DR   MeSH; D007057.
DR   MeSH; D007645.
DR   MeSH; D020752.
KW   KW-0622:Neuropathy.
KW   KW-0977:Ichthyosis.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Cerebral palsy, spastic quadriplegic 1.
AC   DI-01261
AR   CPSQ1.
DE   A non-progressive disorder of movement and/or posture resulting from
DE   defects in the developing central nervous system. Affected individuals
DE   manifest symmetrical, non-progressive spasticity and no adverse
DE   perinatal history or obvious underlying alternative diagnosis.
DE   Developmental delay, intellectual disability and sometimes epilepsy
DE   can be part of the clinical picture.
SY   Autosomal recessive symmetric spastic cerebral palsy 1.
DR   MIM; 603513; phenotype.
DR   MedGen; C1863793.
DR   MedGen; C2751938.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 2.
AC   DI-02559
AR   CPSQ2.
DE   A non-progressive disorder of movement and/or posture resulting from
DE   defects in the developing central nervous system. Affected individuals
DE   manifest congenital hypotonia evolving over the first year to spastic
DE   quadriplegia with accompanying transient nystagmus and varying degrees
DE   of intellectual disability. Neuroimaging shows brain atrophy and
DE   ventriculomegaly.
DR   MIM; 612900; phenotype.
DR   MedGen; C2752061.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 3.
AC   DI-04750
AR   CPSQ3.
DE   A form of cerebral palsy, a group of non-progressive disorders of
DE   movement and/or posture resulting from defects in the developing
DE   central nervous system. CPSQ3 is an autosomal recessive
DE   neurodevelopmental disorder characterized by variable spasticity and
DE   cognitive impairment.
DR   MIM; 617008; phenotype.
DR   MedGen; CN236830.
DR   MeSH; D002547.
//
ID   Cerebro-oculo-facio-skeletal syndrome 1.
AC   DI-00258
AR   COFS1.
DE   A disorder of prenatal onset characterized by microcephaly, congenital
DE   cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE   failure and severe psychomotor retardation. COFS is considered to be
DE   part of the nucleotide-excision repair disorders spectrum that include
DE   also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY   COFS syndrome.
SY   Pena-Shokeir syndrome type 2.
DR   MIM; 214150; phenotype.
DR   MedGen; C0220722.
DR   MeSH; D001176.
DR   MeSH; D002386.
DR   MeSH; D005124.
DR   MeSH; D008831.
//
ID   Cerebro-oculo-facio-skeletal syndrome 2.
AC   DI-00259
AR   COFS2.
DE   A disorder of prenatal onset characterized by microcephaly, congenital
DE   cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE   failure and severe psychomotor retardation. COFS is considered to be
DE   part of the nucleotide-excision repair disorders spectrum that include
DE   also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY   COFS syndrome.
DR   MIM; 610756; phenotype.
DR   MedGen; C1853102.
DR   MeSH; D001176.
DR   MeSH; D002386.
DR   MeSH; D005124.
DR   MeSH; D008831.
//
ID   Cerebro-oculo-facio-skeletal syndrome 3.
AC   DI-04514
AR   COFS3.
DE   A disorder of prenatal onset characterized by microcephaly, congenital
DE   cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE   failure and severe psychomotor retardation. COFS is considered to be
DE   part of the nucleotide-excision repair disorders spectrum that include
DE   also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
DR   MIM; 616570; phenotype.
DR   MedGen; C1851443.
DR   MeSH; D001176.
DR   MeSH; D002386.
DR   MeSH; D005124.
DR   MeSH; D008831.
//
ID   Cerebro-oculo-facio-skeletal syndrome 4.
AC   DI-00260
AR   COFS4.
DE   A disorder of prenatal onset characterized by microcephaly, congenital
DE   cataracts, facial dysmorphism, neurogenic arthrogryposis, growth
DE   failure and severe psychomotor retardation. COFS is considered to be
DE   part of the nucleotide-excision repair disorders spectrum that include
DE   also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
SY   COFS syndrome.
DR   MIM; 610758; phenotype.
DR   MedGen; C1853100.
DR   MeSH; D001176.
DR   MeSH; D002386.
DR   MeSH; D005124.
DR   MeSH; D008831.
//
ID   Cerebrocostomandibular syndrome.
AC   DI-04367
AR   CCMS.
DE   A syndrome characterized by severe micrognathia, rib defects ranging
DE   from a few dorsal rib segments to complete absence of ossification,
DE   and intellectual disability.
SY   CCM syndrome.
SY   Cerebro-costo-mandibular syndrome.
SY   Rib gap defects with micrognathia.
DR   MIM; 117650; phenotype.
DR   MedGen; C0265342.
DR   MeSH; D001848.
DR   MeSH; D008607.
DR   MeSH; D008844.
KW   KW-0991:Intellectual disability.
//
ID   Cerebroretinal microangiopathy with calcifications and cysts 1.
AC   DI-03394
AR   CRMCC1.
DE   An autosomal recessive pleiomorphic disorder characterized primarily
DE   by intracranial calcifications, leukodystrophy, and brain cysts,
DE   resulting in spasticity, ataxia, dystonia, seizures, and cognitive
DE   decline. Patients also have retinal telangiectasia and exudates (Coats
DE   disease) as well as extraneurologic manifestations, including
DE   osteopenia with poor bone healing and a high risk of gastrointestinal
DE   bleeding and portal hypertension caused by vasculature ectasias in the
DE   stomach, small intestine, and liver. Some individuals also have hair,
DE   skin, and nail changes, as well as anemia and thrombocytopenia.
SY   Coats plus syndrome.
DR   MIM; 612199; phenotype.
DR   MedGen; C2677299.
DR   MeSH; D002114.
DR   MeSH; D056784.
DR   MeSH; D058456.
DR   MeSH; D059345.
//
ID   Cerebroretinal microangiopathy with calcifications and cysts 2.
AC   DI-04949
AR   CRMCC2.
DE   An autosomal recessive, multisystemic disorder characterized by
DE   intrauterine growth retardation and, later in life, premature aging
DE   symptoms, including poor growth, graying hair, liver fibrosis, portal
DE   hypertension, esophageal varices, osteopenia, pancytopenia,
DE   hypocellular bone marrow, and vascular telangiectasia resulting in
DE   gastrointestinal bleeding. Brain calcifications and white matter
DE   changes are responsible for signs including spasticity, ataxia, or
DE   dystonia observed in some patients.
DR   MIM; 617341; phenotype.
DR   MedGen; CN240513.
DR   MeSH; D002114.
DR   MeSH; D056784.
DR   MeSH; D058456.
DR   MeSH; D059345.
//
ID   Cerebroretinal microangiopathy with calcifications and cysts 3.
AC   DI-06680
AR   CRMCC3.
DE   An autosomal recessive disorder characterized by intrauterine growth
DE   retardation, retinal exudates, global developmental delay, neurologic
DE   regression, intracranial calcifications, and leukoencephalopathy.
DR   MIM; 620368; phenotype.
DR   MedGen; CN327132.
DR   MeSH; D002114.
DR   MeSH; D056784.
DR   MeSH; D058456.
DR   MeSH; D059345.
//
ID   Cerebrotendinous xanthomatosis.
AC   DI-01335
AR   CTX.
DE   Rare sterol storage disorder characterized clinically by progressive
DE   neurologic dysfunction, premature atherosclerosis, and cataracts.
SY   Cerebral cholesterinosis.
DR   MIM; 213700; phenotype.
DR   MedGen; C0238052.
DR   MeSH; D019294.
//
ID   Ceroid lipofuscinosis, neuronal, 1.
AC   DI-00810
AR   CLN1.
DE   A form of neuronal ceroid lipofuscinosis with variable age at onset.
DE   Infantile, late-infantile, juvenile, and adult onset have been
DE   reported. Neuronal ceroid lipofuscinoses are progressive
DE   neurodegenerative, lysosomal storage diseases characterized by
DE   intracellular accumulation of autofluorescent liposomal material, and
DE   clinically by seizures, dementia, visual loss, and/or cerebral
DE   atrophy. The lipopigment pattern seen most often in CLN1 is referred
DE   to as granular osmiophilic deposits (GROD).
SY   Hagberg-Santavuori disease.
SY   INCL.
SY   Infantile neuronal ceroid lipofuscinosis.
SY   Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
SY   Neuronal ceroid lipofuscinosis with variable age at onset.
SY   Santavuori disease.
SY   Santavuori-Haltia disease.
DR   MIM; 256730; phenotype.
DR   MedGen; C0268281.
DR   MedGen; C1850451.
DR   MedGen; C2931673.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 10.
AC   DI-00818
AR   CLN10.
DE   A form of neuronal ceroid lipofuscinosis with onset at birth or early
DE   childhood. Neuronal ceroid lipofuscinoses are progressive
DE   neurodegenerative, lysosomal storage diseases characterized by
DE   intracellular accumulation of autofluorescent liposomal material, and
DE   clinically by seizures, dementia, visual loss, and/or cerebral
DE   atrophy.
SY   Congenital neuronal ceroid lipofuscinosis.
SY   Neuronal ceroid lipofuscinosis cathepsin d-deficient.
SY   Neuronal ceroid lipofuscinosis due to cathepsin D deficiency.
DR   MIM; 610127; phenotype.
DR   MedGen; C1864669.
DR   MedGen; C1864670.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 11.
AC   DI-03493
AR   CLN11.
DE   A form of neuronal ceroid lipofuscinosis characterized by rapidly
DE   progressive visual loss due to retinal dystrophy, seizures, cerebellar
DE   ataxia, and cerebellar atrophy. Cognitive decline may also occur.
DE   Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE   lysosomal storage diseases characterized by intracellular accumulation
DE   of autofluorescent liposomal material.
DR   MIM; 614706; phenotype.
DR   MedGen; C3539123.
DR   MedGen; CN130362.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 13 (Kufs type).
AC   DI-03853
AR   CLN13.
DE   A form of neuronal ceroid lipofuscinosis characterized by adult onset
DE   of progressive cognitive decline and motor dysfunction leading to
DE   dementia and often early death. Some patients develop seizures.
DE   Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE   lysosomal storage diseases characterized by intracellular accumulation
DE   of autofluorescent liposomal material. CLN13 inheritance is autosomal
DE   recessive.
SY   Neuronal ceroid lipofuscinosis 13 Kufs type.
DR   MIM; 615362; phenotype.
DR   MedGen; C3715049.
DR   MedGen; CN178682.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 2.
AC   DI-00811
AR   CLN2.
DE   A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE   lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE   diseases characterized by intracellular accumulation of
DE   autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE   pattern seen most often in CLN2 consists of curvilinear profiles.
SY   Jansky-Bielschowsky disease.
SY   Late-infantile neuronal ceroid lipofuscinosis.
SY   LINCL.
SY   Neuronal ceroid lipofuscinosis 2 with variable age at onset.
DR   MIM; 204500; phenotype.
DR   MedGen; C0022340.
DR   MedGen; C1876161.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 3.
AC   DI-00812
AR   CLN3.
DE   A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE   lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE   diseases characterized by intracellular accumulation of
DE   autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3
DE   is the ultrastructural pattern of lipopigment with a fingerprint
DE   profile, which can have 3 different appearances: pure within a
DE   lysosomal residual body; in conjunction with curvilinear or
DE   rectilinear profiles; and as a small component within large membrane-
DE   bound lysosomal vacuoles. The combination of fingerprint profiles
DE   within lysosomal vacuoles is a regular feature of blood lymphocytes
DE   from patients with neuronal ceroid lipofuscinosis type 3.
SY   Batten disease.
SY   JNCL.
SY   Juvenile neuronal ceroid lipofuscinosis.
SY   Spielmeyer-Sjogren disease.
SY   Vogt-Spielmeyer disease.
DR   MIM; 204200; phenotype.
DR   MedGen; C0751383.
DR   MedGen; C2931674.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive.
AC   DI-03163
AR   CLN4A.
DE   An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid
DE   lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE   diseases characterized by intracellular accumulation of
DE   autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual
DE   involvement and is characterized by progressive myoclonic epilepsy.
SY   Adult neuronal ceroid lipofuscinosis.
SY   CLN6 disease Kufs type A.
SY   Kufs disease.
SY   Kufs disease autosomal recessive.
DR   MIM; 204300; phenotype.
DR   MedGen; C0022797.
DR   MedGen; C2931675.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant.
AC   DI-03226
AR   CLN4B.
DE   An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid
DE   lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE   diseases characterized by intracellular accumulation of
DE   autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual
DE   involvement and is characterized by seizures and other neurologic
DE   symptoms.
SY   Kufs disease autosomal dominant.
SY   Neuronal ceroid lipofuscinosis Parry type.
DR   MIM; 162350; phenotype.
DR   MedGen; C1834207.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 5.
AC   DI-00813
AR   CLN5.
DE   A form of neuronal ceroid lipofuscinosis. Neuronal ceroid
DE   lipofuscinoses are progressive neurodegenerative, lysosomal storage
DE   diseases characterized by intracellular accumulation of
DE   autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE   patterns observed most often in neuronal ceroid lipofuscinosis type 5
DE   comprise mixed combinations of granular, curvilinear, and fingerprint
DE   profiles.
SY   Finnish.
SY   Finnish variant late infantile neuronal ceroid lipofuscinosis.
SY   Neuronal ceroid lipofuscinosis 5 with variable age at onset.
SY   vLINCL.
DR   MIM; 256731; phenotype.
DR   MedGen; C1850442.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 6.
AC   DI-00814
AR   CLN6.
DE   An autosomal recessive form of neuronal ceroid lipofuscinosis.
DE   Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE   lysosomal storage diseases characterized by intracellular accumulation
DE   of autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE   patterns observed most often in neuronal ceroid lipofuscinosis type 6
DE   comprise mixed combinations of granular, curvilinear, and fingerprint
DE   profiles.
SY   Neuronal ceroid lipofuscinosis 6 with variable age at onset.
SY   Variant late-onset infantile neuronal ceroid lipofuscinosis.
SY   vLINCL.
DR   MIM; 601780; phenotype.
DR   MedGen; C1866282.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 7.
AC   DI-00815
AR   CLN7.
DE   A form of neuronal ceroid lipofuscinosis with onset in early
DE   childhood. Neuronal ceroid lipofuscinoses are progressive
DE   neurodegenerative, lysosomal storage diseases characterized by
DE   intracellular accumulation of autofluorescent liposomal material, and
DE   clinically by seizures, dementia, visual loss, and/or cerebral
DE   atrophy. The lipopigment patterns observed most often in neuronal
DE   ceroid lipofuscinosis type 7 comprise mixed combinations of granular,
DE   curvilinear, fingerprint, and rectilinear profiles.
SY   Turkish variant late infantile NCL.
DR   MIM; 610951; phenotype.
DR   MedGen; C1838571.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 8.
AC   DI-00816
AR   CLN8.
DE   A form of neuronal ceroid lipofuscinosis with onset in childhood.
DE   Neuronal ceroid lipofuscinoses are progressive neurodegenerative,
DE   lysosomal storage diseases characterized by intracellular accumulation
DE   of autofluorescent liposomal material, and clinically by seizures,
DE   dementia, visual loss, and/or cerebral atrophy. The lipopigment
DE   patterns observed most often in neuronal ceroid lipofuscinosis type 8
DE   comprise mixed combinations of granular, curvilinear, and fingerprint
DE   profiles.
SY   Turkish variant late infantile NCL.
DR   MIM; 600143; phenotype.
DR   MedGen; C1838570.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant.
AC   DI-00817
AR   CLN8NE.
DE   A form of neuronal ceroid lipofuscinosis clinically characterized by
DE   epilepsy that presents between 5 and 10 years of age with frequent
DE   tonic-clonic seizures followed by progressive intellectual disability.
DE   Visual loss is not a prominent feature. Intracellular accumulation of
DE   autofluorescent material results in curvilinear and granular profiles
DE   on ultrastructural analysis.
SY   EPMR.
DR   MIM; 610003; phenotype.
DR   MedGen; C1864923.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
KW   KW-0887:Epilepsy.
//
ID   Cervical cancer.
AC   DI-02838
AR   CERCA.
DE   A malignant neoplasm of the cervix, typically originating from a
DE   dysplastic or premalignant lesion previously present at the active
DE   squamocolumnar junction. The transformation from mild dysplastic to
DE   invasive carcinoma generally occurs slowly within several years,
DE   although the rate of this process varies widely. Carcinoma in situ is
DE   particularly known to precede invasive cervical cancer in most cases.
DE   Cervical cancer is strongly associated with infection by oncogenic
DE   types of human papillomavirus.
SY   Cervix cancer.
SY   Uterine cervical cancer.
DR   MIM; 603956; phenotype.
DR   MedGen; C0302592.
DR   MeSH; D002583.
//
ID   CFHR5 deficiency.
AC   DI-03555
AR   CFHR5D.
DE   A progressive disease characterized by glomerulonephritis, hematuria,
DE   renal failure, end-stage renal disease, subendothelial and mesangial
DE   glomerular C3 deposits, mesangial matrix expansion, increased
DE   glomerular cellularity, and segmental capillary wall thickening.
DE   Hematuria may become apparent after respiratory infections.
SY   Nephropathy due to CFHR5 deficiency.
DR   MIM; 614809; phenotype.
DR   MedGen; C3553720.
DR   MedGen; CN158539.
DR   MeSH; D005921.
//
ID   Chanarin-Dorfman syndrome.
AC   DI-00262
AR   CDS.
DE   An autosomal recessive inborn error of lipid metabolism with
DE   multisystemic accumulation of triglycerides although plasma
DE   concentrations are normal. Clinical characteristics are congenital
DE   generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy,
DE   cataracts, neurosensory hearing loss and developmental delay. The
DE   disorder presents at birth with generalized, fine, white scaling of
DE   the skin and a variable degree of erythema resembling non-bullous
DE   congenital ichthyosiform erythroderma.
SY   DCS.
SY   Dorfman-Chanarin syndrome.
SY   Ichthyosiform erythroderma with leukocyte vacuolation.
SY   Ichthyotic neutral lipid storage disease.
SY   Neutral lipid storage disease with ichthyosis.
SY   Triglyceride storage disease with impaired long-chain fatty acid oxidation.
DR   MIM; 275630; phenotype.
DR   MedGen; C0268238.
DR   MeSH; D008052.
DR   MeSH; D016113.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
KW   KW-0977:Ichthyosis.
//
ID   CHAND syndrome.
AC   DI-05366
AR   CHANDS.
DE   An autosomal recessive syndrome characterized by ankyloblepharon,
DE   sparse, curly and woolly hair, nail dysplasia, and oral frenula.
SY   Curly hair, ankyloblepharon, nail dysplasia syndrome.
DR   MIM; 214350; phenotype.
DR   MedGen; C0406733.
DR   MeSH; D004476.
DR   MeSH; D005141.
DR   MeSH; D006201.
DR   MeSH; D009264.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Char syndrome.
AC   DI-00294
AR   CHAR.
DE   An autosomal dominant disorder characterized by patent ductus
DE   arteriosus (PDA), facial dysmorphism and hand anomalies.
DR   MIM; 169100; phenotype.
DR   MedGen; C1868570.
DR   MeSH; D004374.
//
ID   Charcot-Marie-Tooth disease 4A.
AC   DI-00285
AR   CMT4A.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A
DE   is a severe form characterized by early age of onset and rapid
DE   progression leading to inability to walk in late childhood or
DE   adolescence.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A.
SY   Charcot-Marie-Tooth disease neuropathy type 4A.
DR   MIM; 214400; phenotype.
DR   MedGen; C1859198.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4B1.
AC   DI-00286
AR   CMT4B1.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY   Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B1.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B1.
SY   Charcot-Marie-Tooth disease type 4B.
SY   Charcot-Marie-Tooth neuropathy type 4B1.
SY   CMT4B.
DR   MIM; 601382; phenotype.
DR   MedGen; C1832399.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4B2.
AC   DI-00287
AR   CMT4B2.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY   Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B2.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B2.
SY   Charcot-Marie-Tooth neuropathy type 4B2.
DR   MIM; 604563; phenotype.
DR   MedGen; C1858278.
DR   MedGen; C1858279.
DR   MedGen; C1858280.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4B3.
AC   DI-03784
AR   CMT4B3.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY   Charcot-Marie-Tooth neuropathy type 4B3.
DR   MIM; 615284; phenotype.
DR   MedGen; C3695063.
DR   MedGen; CN177020.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4C.
AC   DI-00288
AR   CMT4C.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C
DE   is characterized by onset in childhood, early-onset scoliosis and a
DE   distinct Schwann cell pathology.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4C.
SY   Charcot-Marie-Tooth neuropathy type 4C.
DR   MIM; 601596; phenotype.
DR   MedGen; C1866636.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4D.
AC   DI-00289
AR   CMT4D.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D.
SY   Charcot-Marie-Tooth neuropathy type 4D.
SY   Hereditary motor and sensory neuropathy IVD.
SY   Hereditary motor and sensory neuropathy Lom type.
SY   HMSN4D.
SY   HMSN IVD.
SY   HMSNL.
DR   MIM; 601455; phenotype.
DR   MedGen; C1832334.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4F.
AC   DI-03559
AR   CMT4F.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F
DE   is characterized by distal sensory impairment and distal muscle
DE   weakness and atrophy affecting the lower more than the upper limbs.
DE   The age at onset is variable and can range from childhood to adult
DE   years. When the onset is in infancy, the phenotype is characterized as
DE   Dejerine-Sottas syndrome.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F.
SY   Charcot-Marie-Tooth neuropathy type 4F.
DR   MIM; 614895; phenotype.
DR   MedGen; C3540453.
DR   MedGen; CN068842.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4H.
AC   DI-00290
AR   CMT4H.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
SY   Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H.
SY   Charcot-Marie-Tooth neuropathy type 4H.
DR   MIM; 609311; phenotype.
DR   MedGen; C1836336.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4J.
AC   DI-00291
AR   CMT4J.
DE   A recessive demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4.
DR   MIM; 611228; phenotype.
DR   MedGen; C1970011.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 4K.
AC   DI-04591
AR   CMT4K.
DE   An autosomal recessive, demyelinating form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. By convention autosomal recessive forms of
DE   demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K
DE   patients manifest upper and lower limbs involvement. Some affected
DE   individuals have nystagmus and late-onset cerebellar ataxia.
SY   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K.
SY   Charcot-Marie-Tooth disease, demyelinating, type 4K.
SY   Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K.
SY   Charcot-Marie-Tooth neuropathy, type 4K.
DR   MIM; 616684; phenotype.
DR   MedGen; CN234388.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2A1.
AC   DI-00274
AR   CMT2A1.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal type 2A1.
SY   Charcot-Marie-Tooth disease neuronal type 2A1.
SY   Charcot-Marie-Tooth neuropathy type 2A1.
SY   Hereditary motor and sensory neuropathy IIA1.
SY   HMSN2A1.
SY   HMSN IIA1.
DR   MIM; 118210; phenotype.
DR   MedGen; C1861678.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2A2A.
AC   DI-00275
AR   CMT2A2A.
DE   An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Neuropathies of the CMT2 group are characterized by signs of axonal
DE   degeneration in the absence of obvious myelin alterations, normal or
DE   slightly reduced nerve conduction velocities, and progressive distal
DE   muscle weakness and atrophy.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A.
SY   Charcot-Marie-Tooth disease axonal type 2A2.
SY   Charcot-Marie-Tooth disease neuronal type 2A2.
SY   Charcot-Marie-Tooth neuropathy type 2A2.
SY   CMT2A2.
SY   Hereditary motor and sensory neuropathy IIA2.
SY   HMSN2A2.
SY   HMSN IIA2.
DR   MIM; 609260; phenotype.
DR   MedGen; C1836485.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2A2B.
AC   DI-04811
AR   CMT2A2B.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2A2B is a severe form with autosomal recessive
DE   inheritance.
SY   Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.
SY   Charcot-Marie-Tooth disease, axonal, type 2A2B.
DR   MIM; 617087; phenotype.
DR   MedGen; CN238096.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2B.
AC   DI-00276
AR   CMT2B.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal type 2B.
SY   Charcot-Marie-Tooth disease neuronal type 2B.
SY   Charcot-Marie-Tooth neuropathy type 2B.
SY   Hereditary motor and sensory neuropathy IIB.
SY   HMSN2B.
SY   HMSN IIB.
SY   Peripheral sensory neuropathy autosomal dominant.
SY   PSN.
DR   MIM; 600882; phenotype.
DR   MedGen; C1833219.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2B1.
AC   DI-00277
AR   CMT2B1.
DE   A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal recessive B1.
SY   Charcot-Marie-Tooth disease axonal type 2B1.
SY   Charcot-Marie-Tooth disease neuronal type 2B1.
SY   Charcot-Marie-Tooth neuropathy type 2B1.
DR   MIM; 605588; phenotype.
DR   MedGen; C1854154.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2B2.
AC   DI-02671
AR   CMT2B2.
DE   A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   ARCMT2B.
SY   Charcot-Marie-Tooth disease axonal autosomal recessive B2.
SY   Charcot-Marie-Tooth disease axonal type 2B2.
SY   Charcot-Marie-Tooth disease neuronal type 2B2.
SY   Charcot-Marie-Tooth neuropathy type 2B2.
DR   MIM; 605589; phenotype.
DR   MedGen; C1854150.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2C.
AC   DI-02687
AR   CMT2C.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant 2C.
SY   Charcot-Marie-Tooth disease axonal type 2C.
SY   Charcot-Marie-Tooth neuropathy type 2C.
SY   Hereditary motor and sensory neuropathy type IIC.
SY   HMSN2C.
SY   HMSN IIC.
DR   MIM; 606071; phenotype.
DR   MedGen; C1853710.
DR   MedGen; C2079540.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2CC.
AC   DI-04709
AR   CMT2CC.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal, type 2CC.
SY   Charcot-Marie-Tooth neuropathy, type 2CC.
DR   MIM; 616924; phenotype.
DR   MedGen; CN236395.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2D.
AC   DI-00278
AR   CMT2D.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal type 2D.
SY   Charcot-Marie-Tooth disease neuronal type 2D.
SY   Charcot-Marie-Tooth neuropathy type 2D.
DR   MIM; 601472; phenotype.
DR   MedGen; C1832274.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2DD.
AC   DI-05276
AR   CMT2DD.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal, type 2DD.
SY   Charcot-Marie-Tooth neuropathy, type 2DD.
DR   MIM; 618036; phenotype.
DR   MedGen; CN248781.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2E.
AC   DI-00279
AR   CMT2E.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal type 2E.
SY   Charcot-Marie-Tooth disease neuronal type 2E.
SY   Charcot-Marie-Tooth neuropathy type 2E.
DR   MIM; 607684; phenotype.
DR   MedGen; C1843225.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2EE.
AC   DI-05543
AR   CMT2EE.
DE   A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral
DE   axonal neuropathy with onset in the first or second decades of life.
DE   The disorder primarily affects the lower limbs, sometimes resulting in
DE   loss of ambulation, with later onset of upper limb involvement.
SY   Charcot-Marie-Tooth disease, axonal, type 2EE.
SY   Charcot-Marie-Tooth neuropathy, type 2EE.
DR   MIM; 618400; phenotype.
DR   MedGen; CN258309.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2F.
AC   DI-00280
AR   CMT2F.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15
DE   and 25 years with muscle weakness and atrophy usually beginning in
DE   feet and legs (peroneal distribution). Upper limb involvement occurs
DE   later.
SY   Charcot-Marie-Tooth disease axonal type 2F.
SY   Charcot-Marie-Tooth disease neuronal type 2F.
SY   Charcot-Marie-Tooth neuropathy type 2F.
DR   MIM; 606595; phenotype.
DR   MedGen; C1847823.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2FF.
AC   DI-06222
AR   CMT2FF.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2FF is characterized by early-childhood onset of
DE   difficulties walking or running due to atrophy and weakness of the
DE   lower limbs. Some patients lose independent ambulation. There is also
DE   prominent involvement of the upper limbs.
SY   Charcot-Marie-Tooth disease, axonal, type 2FF.
SY   Charcot-Marie-Tooth neuropathy, type 2FF.
DR   MIM; 619519; phenotype.
DR   MedGen; CN300474.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2GG.
AC   DI-06681
AR   CMT2GG.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2GG is an autosomal dominant form characterized by slowly
DE   progressive distal muscle weakness and atrophy primarily affecting the
DE   lower limbs and causing difficulty walking. Some individuals may also
DE   have involvement of the hands.
SY   Charcot-Marie-Tooth disease, axonal, type 2GG.
DR   MIM; 606483; phenotype.
DR   MedGen; C5561933.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2HH.
AC   DI-06245
AR   CMT2HH.
DE   An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system characterized by progressive
DE   weakness and atrophy, initially of the peroneal muscles and later of
DE   the distal muscles of the arms. Charcot-Marie-Tooth disease is
DE   classified in two main groups on the basis of electrophysiologic
DE   properties and histopathology: primary peripheral demyelinating
DE   neuropathies (designated CMT1 when they are dominantly inherited) and
DE   primary peripheral axonal neuropathies (CMT2). Neuropathies of the
DE   CMT2 group are characterized by signs of axonal degeneration in the
DE   absence of obvious myelin alterations, normal or slightly reduced
DE   nerve conduction velocities, and progressive distal muscle weakness
DE   and atrophy. CMT2HH is characterized by vocal fold paresis that
DE   remains throughout life and may be severe. Additional features include
DE   pes cavus, scoliosis, distal sensory impairment with hyporeflexia,
DE   mild distal muscle weakness and atrophy primarily affecting the lower
DE   limbs, although the upper limbs may also be involved.
SY   Charcot-Marie-Tooth disease, axonal, type 2HH.
SY   Charcot-Marie-Tooth neuropathy, type 2HH.
DR   MIM; 619574; phenotype.
DR   MedGen; CN301079.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2I.
AC   DI-00281
AR   CMT2I.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal type 2I.
SY   Charcot-Marie-Tooth disease neuronal type 2I.
SY   Charcot-Marie-Tooth neuropathy type 2I.
DR   MIM; 607677; phenotype.
DR   MedGen; C1843251.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2II.
AC   DI-06520
AR   CMT2II.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal, type 2II.
SY   Charcot-Marie-Tooth neuropathy, type 2II.
DR   MIM; 620068; phenotype.
DR   MedGen; CN322276.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2J.
AC   DI-00282
AR   CMT2J.
DE   A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of
DE   the peripheral nervous system, characterized by progressive weakness
DE   and atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the
DE   association of axonal peripheral neuropathy with hearing loss and
DE   pupillary abnormalities such as Adie pupil.
SY   Charcot-Marie-Tooth disease axonal type 2J.
SY   Charcot-Marie-Tooth disease neuronal type 2J.
SY   Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities.
SY   Charcot-Marie-Tooth neuropathy type 2J.
DR   MIM; 607736; phenotype.
DR   MedGen; C1843153.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2K.
AC   DI-00283
AR   CMT2K.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. Charcot-Marie-Tooth disease type 2K onset is in early
DE   childhood (younger than 3 years). This phenotype is characterized by
DE   foot deformities, kyphoscoliosis, distal limb muscle weakness and
DE   atrophy, areflexia, and diminished sensation in the lower limbs.
DE   Weakness in the upper limbs is observed in the first decade, with
DE   clawing of the fingers. Inheritance can be autosomal dominant or
DE   recessive.
SY   Charcot-Marie-Tooth disease axonal type 2K.
SY   Charcot-Marie-Tooth disease neuronal type 2K.
SY   Charcot-Marie-Tooth neuropathy type 2K.
DR   MIM; 607831; phenotype.
DR   MedGen; C1842983.
DR   MedGen; C1842984.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2L.
AC   DI-00284
AR   CMT2L.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2L.
SY   Charcot-Marie-Tooth disease axonal type 2L.
SY   Charcot-Marie-Tooth disease neuronal type 2L.
SY   Charcot-Marie-Tooth neuropathy type 2L.
DR   MIM; 608673; phenotype.
DR   MedGen; C1837552.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2M.
AC   DI-03481
AR   CMT2M.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2M.
SY   Charcot-Marie-Tooth disease axonal type 2M.
SY   Charcot-Marie-Tooth neuropathy axonal type 2M.
DR   MIM; 606482; phenotype.
DR   MedGen; C2751364.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2N.
AC   DI-02678
AR   CMT2N.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2N.
SY   Charcot-Marie-Tooth disease axonal type 2N.
SY   Charcot-Marie-Tooth neuropathy axonal type 2N.
DR   MIM; 613287; phenotype.
DR   MedGen; C2750090.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2O.
AC   DI-03264
AR   CMT2O.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2O.
SY   Charcot-Marie-Tooth disease axonal type 2O.
SY   Charcot-Marie-Tooth neuropathy axonal type 2O.
DR   MIM; 614228; phenotype.
DR   MedGen; C3280220.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2P.
AC   DI-03339
AR   CMT2P.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal type 2G.
SY   Charcot-Marie-Tooth disease axonal type 2P.
SY   Charcot-Marie-Tooth neuropathy axonal type 2P.
SY   CMT2G.
DR   MIM; 614436; phenotype.
DR   MedGen; C3280797.
DR   MedGen; CN120583.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2Q.
AC   DI-03672
AR   CMT2Q.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q.
SY   Charcot-Marie-Tooth disease axonal type 2Q.
SY   Charcot-Marie-Tooth neuropathy, type 2Q.
SY   Charcot-Marie-Tooth neuropathy axonal type 2Q.
DR   MIM; 615025; phenotype.
DR   MedGen; C3554366.
DR   MedGen; CN164583.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2R.
AC   DI-03924
AR   CMT2R.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R.
SY   Charcot-Marie-Tooth disease axonal type 2R.
SY   Charcot-Marie-Tooth neuropathy, type 2R.
SY   Charcot-Marie-Tooth neuropathy axonal type 2R.
DR   MIM; 615490; phenotype.
DR   MedGen; C3809655.
DR   MedGen; CN180570.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2S.
AC   DI-04308
AR   CMT2S.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S.
SY   Charcot-Marie-Tooth neuropathy, type 2S.
SY   Charcot-Marie-Tooth neuropathy axonal type 2S.
DR   MIM; 616155; phenotype.
DR   MedGen; CN224983.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2T.
AC   DI-04343
AR   CMT2T.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy.
SY   Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T..
SY   Charcot-Marie-Tooth neuropathy, type 2T..
SY   Charcot-Marie-Tooth neuropathy axonal type 2T..
DR   MIM; 617017; phenotype.
DR   MedGen; CN226589.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2U.
AC   DI-04362
AR   CMT2U.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2U is a slowly progressive, autosomal dominant form
DE   characterized by late-adult onset.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U.
SY   Charcot-Marie-Tooth neuropathy, type 2U.
DR   MIM; 616280; phenotype.
DR   MedGen; CN228785.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2V.
AC   DI-04496
AR   CMT2V.
DE   An axonal form of Charcot-Marie-Tooth disease, a disorder of the
DE   peripheral nervous system, characterized by progressive weakness and
DE   atrophy, initially of the peroneal muscles and later of the distal
DE   muscles of the arms. Charcot-Marie-Tooth disease is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies
DE   (designated CMT1 when they are dominantly inherited) and primary
DE   peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
DE   are characterized by signs of axonal degeneration in the absence of
DE   obvious myelin alterations, normal or slightly reduced nerve
DE   conduction velocities, and progressive distal muscle weakness and
DE   atrophy. CMT2V is an autosomal dominant sensory neuropathy with late
DE   onset. The main clinical feature is recurrent leg pain that progresses
DE   to constant painful paraesthesias in the feet and later the hands. As
DE   it evolves, some patients develop a mild sensory ataxia.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V.
SY   Charcot-Marie-Tooth disease, axonal, type 2V.
SY   Charcot-Marie-Tooth neuropathy, type 2V.
DR   MIM; 616491; phenotype.
DR   MedGen; CN231733.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2W.
AC   DI-04574
AR   CMT2W.
DE   An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Neuropathies of the CMT2 group are characterized by signs of axonal
DE   degeneration in the absence of obvious myelin alterations, normal or
DE   slightly reduced nerve conduction velocities, and progressive distal
DE   muscle weakness and atrophy. CMT2W patients manifest a peripheral
DE   neuropathy mainly affecting the lower limbs and resulting in gait
DE   difficulties and distal sensory impairment. Most patients also have
DE   upper limb involvement.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W.
SY   Charcot-Marie-Tooth disease, axonal, type 2W.
SY   Charcot-Marie-Tooth neuropathy, type 2W.
DR   MIM; 616625; phenotype.
DR   MedGen; CN233205.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2X.
AC   DI-04588
AR   CMT2X.
DE   An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Neuropathies of the CMT2 group are characterized by signs of axonal
DE   degeneration in the absence of obvious myelin alterations, normal or
DE   slightly reduced nerve conduction velocities, and progressive distal
DE   muscle weakness and atrophy. CMT2X patients manifest a slowly
DE   progressive, peripheral neuropathy affecting the lower limbs and
DE   resulting in gait difficulties and distal sensory impairment. Some
DE   patients also have upper limb involvement.
SY   Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X.
SY   Charcot-Marie-Tooth disease, axonal, type 2X.
SY   Charcot-Marie-Tooth neuropathy, type 2X.
DR   MIM; 616668; phenotype.
DR   MedGen; CN233205.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2Y.
AC   DI-04589
AR   CMT2Y.
DE   An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Neuropathies of the CMT2 group are characterized by signs of axonal
DE   degeneration in the absence of obvious myelin alterations, normal or
DE   slightly reduced nerve conduction velocities, and progressive distal
DE   muscle weakness and atrophy.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y.
SY   Charcot-Marie-Tooth disease, axonal, type 2Y.
SY   Charcot-Marie-Tooth neuropathy, type 2Y.
DR   MIM; 616687; phenotype.
DR   MedGen; CN234389.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, 2Z.
AC   DI-04590
AR   CMT2Z.
DE   An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Neuropathies of the CMT2 group are characterized by signs of axonal
DE   degeneration in the absence of obvious myelin alterations, normal or
DE   slightly reduced nerve conduction velocities, and progressive distal
DE   muscle weakness and atrophy.
SY   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z.
SY   Charcot-Marie-Tooth disease, axonal, type 2Z.
SY   Charcot-Marie-Tooth neuropathy, type 2Z.
DR   MIM; 616688; phenotype.
DR   MedGen; CN234390.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive.
AC   DI-00263
AR   CMT2RV.
DE   A form of Charcot-Marie-Tooth disease characterized by the association
DE   of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth
DE   disease is a disorder of the peripheral nervous system, characterized
DE   by progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms.
SY   Charcot-Marie-Tooth axonal type 4A.
SY   Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive.
SY   CMT2 with vocal cord paresis autosomal recessive.
DR   MIM; 607706; phenotype.
DR   MedGen; C1843183.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1A.
AC   DI-00268
AR   CMT1A.
DE   A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet.
SY   Charcot-Marie-Tooth disease demyelinating type 1A.
SY   Charcot-Marie-Tooth disease slow nerve conduction type unlinked to Duffy.
SY   Charcot-Marie-Tooth neuropathy type 1A.
SY   Hereditary motor and sensory neuropathy IA.
SY   HMSN1A.
SY   HMSN IA.
DR   MIM; 118220; phenotype.
DR   MedGen; C0270911.
DR   MedGen; CN069173.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1B.
AC   DI-00269
AR   CMT1B.
DE   A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet.
SY   Charcot-Marie-Tooth disease demyelinating type 1B.
SY   Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy.
SY   Charcot-Marie-Tooth neuropathy type 1B.
SY   Hereditary motor and sensory neuropathy IB.
SY   HMSN1B.
SY   HMSN IB.
SY   Peroneal muscular atrophy.
DR   MIM; 118200; phenotype.
DR   MedGen; C0270912.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1C.
AC   DI-00270
AR   CMT1C.
DE   A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet.
SY   Charcot-Marie-Tooth disease demyelinating type 1C.
SY   Charcot-Marie-Tooth neuropathy type 1C.
SY   Hereditary motor and sensory neuropathy IC.
SY   HMSN1C.
SY   HMSN IC.
DR   MIM; 601098; phenotype.
DR   MedGen; C0270913.
DR   MedGen; C1832775.
DR   MedGen; CN068843.
DR   MedGen; CN068844.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1D.
AC   DI-00271
AR   CMT1D.
DE   A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet.
SY   Charcot-Marie-Tooth disease demyelinating type 1D.
SY   Charcot-Marie-Tooth neuropathy type 1D.
SY   Hereditary motor and sensory neuropathy ID.
SY   HMSN1D.
SY   HMSN ID.
DR   MIM; 607678; phenotype.
DR   MedGen; C1843247.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1E.
AC   DI-00272
AR   CMT1E.
DE   An autosomal dominant form of Charcot-Marie-Tooth disease
DE   characterized by the association of sensorineural hearing loss with
DE   peripheral demyelinating neuropathy.
SY   Charcot-Marie-Tooth disease and deafness autosomal dominant.
SY   Charcot-Marie-Tooth disease demyelinating type 1E.
SY   Charcot-Marie-Tooth neuropathy type 1E.
DR   MIM; 118300; phenotype.
DR   MedGen; C1861669.
DR   MedGen; C3495591.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1F.
AC   DI-00273
AR   CMT1F.
DE   A dominant demyelinating form of Charcot-Marie-Tooth disease, a
DE   disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. CMT1F is characterized by onset in infancy
DE   or childhood (range 1 to 13 years).
SY   Charcot-Marie-Tooth disease demyelinating type 1F.
SY   Charcot-Marie-Tooth neuropathy type 1F.
DR   MIM; 607734; phenotype.
DR   MedGen; C1843164.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1G.
AC   DI-05460
AR   CMT1G.
DE   An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. CMT1G is characterized by distal muscle
DE   weakness and atrophy with onset in the first or second decade.
SY   Charcot-Marie-Tooth disease, demyelinating, type 1G.
DR   MIM; 618279; phenotype.
DR   MedGen; CN258117.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1H.
AC   DI-06336
AR   CMT1H.
DE   An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. CMT1H is characterized by peripheral
DE   sensorimotor neuropathy with onset usually in adulthood. Affected
DE   individuals present with foot deformities, upper or lower limb sensory
DE   disturbances, and motor deficits, mainly impaired gait. Rare patients
DE   may have hyperelastic skin or develop age-related macular
DE   degeneration.
SY   Charcot-Marie-Tooth disease, demyelinating, type 1H.
SY   Charcot-Marie-Tooth neuropathy, type 1H.
SY   Hereditary motor and sensory neuropathy, IH.
SY   HNARMD.
SY   Neuropathy, hereditary, with or without age-related macular degeneration.
DR   MIM; 619764; phenotype.
DR   MedGen; CN306957.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1I.
AC   DI-06335
AR   CMT1I.
DE   An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet. CMT1I is characterized predominantly by
DE   delayed motor development in the first years of life associated with
DE   gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory
DE   impairment due to a sensorimotor peripheral neuropathy that mainly
DE   affects the lower limbs. The disorder is progressive, and some may
DE   have upper limb involvement. A subset of patients has central nervous
DE   system involvement that manifests as global developmental delay with
DE   impaired intellectual development and speech difficulties.
SY   Charcot-Marie-Tooth disease, demyelinating, type 1I.
SY   Charcot-Marie-Tooth neuropathy, type 1I.
DR   MIM; 619742; phenotype.
DR   MedGen; CN306474.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, demyelinating, 1J.
AC   DI-06544
AR   CMT1J.
DE   An autosomal dominant demyelinating form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Charcot-Marie-Tooth
DE   disease is classified in two main groups on the basis of
DE   electrophysiologic properties and histopathology: primary peripheral
DE   demyelinating neuropathies (designated CMT1 when they are dominantly
DE   inherited) and primary peripheral axonal neuropathies (CMT2).
DE   Demyelinating neuropathies are characterized by severely reduced nerve
DE   conduction velocities (less than 38 m/sec), segmental demyelination
DE   and remyelination with onion bulb formations on nerve biopsy, slowly
DE   progressive distal muscle atrophy and weakness, absent deep tendon
DE   reflexes, and hollow feet.
SY   Charcot-Marie-Tooth disease, demyelinating, type 1J.
DR   MIM; 620111; phenotype.
DR   MedGen; CN322377.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate B.
AC   DI-00264
AR   CMTDIB.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. The dominant intermediate type B is characterized by
DE   clinical and pathologic features intermediate between demyelinating
DE   and axonal peripheral neuropathies, and motor median nerve conduction
DE   velocities ranging from 25 to 45 m/sec.
SY   Charcot-Marie-Tooth neuropathy dominant intermediate B.
SY   CMTDI1.
SY   DI-CMTB.
DR   MIM; 606482; phenotype.
DR   MedGen; C1847902.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate C.
AC   DI-00265
AR   CMTDIC.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. The dominant intermediate type C is characterized by
DE   clinical and pathologic features intermediate between demyelinating
DE   and axonal peripheral neuropathies, and motor median nerve conduction
DE   velocities ranging from 25 to 45 m/sec.
DR   MIM; 608323; phenotype.
DR   MedGen; C1842237.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate D.
AC   DI-00266
AR   CMTDID.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. The dominant intermediate type D is characterized by
DE   clinical and pathologic features intermediate between demyelinating
DE   and axonal peripheral neuropathies, and motor median nerve conduction
DE   velocities ranging from 25 to 45 m/sec.
DR   MIM; 607791; phenotype.
DR   MedGen; C1843075.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate E.
AC   DI-03340
AR   CMTDIE.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. The dominant intermediate type E is characterized by
DE   clinical and pathologic features intermediate between demyelinating
DE   and axonal peripheral neuropathies, and motor median nerve conduction
DE   velocities ranging from 25 to 45 m/sec. Patients additionally manifest
DE   focal segmental glomerulonephritis, proteinuria, progression to end-
DE   stage renal disease, and a characteristic histologic pattern on renal
DE   biopsy.
SY   Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis.
DR   MIM; 614455; phenotype.
DR   MedGen; C3280845.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate F.
AC   DI-03759
AR   CMTDIF.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. CMTDIF is characterized by onset around adolescence of
DE   slowly progressive distal muscle atrophy and weakness affecting the
DE   upper and lower limbs and resulting in steppage gait. There is distal
DE   sensory impairment with decreased reflexes. Nerve conduction
DE   velocities are variable, ranging from the demyelinating to the axonal
DE   range.
DR   MIM; 615185; phenotype.
DR   MedGen; C3554654.
DR   MedGen; CN168980.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant intermediate G.
AC   DI-05208
AR   CMTDIG.
DE   An autosomal dominant, intermediate form of Charcot-Marie-Tooth
DE   disease, a disorder of the peripheral nervous system, characterized by
DE   progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. Dominant intermediate
DE   forms are characterized by clinical and pathologic features
DE   intermediate between demyelinating and axonal peripheral neuropathies,
DE   and motor median nerve conduction velocities ranging from 25 to 45
DE   m/sec. CMTDIG is phenotypically variable. Most affected individuals
DE   have onset in the first or second decades of slowly progressive distal
DE   motor weakness and atrophy, resulting in gait instability and distal
DE   upper limb impairment, as well as distal sensory impairment.
SY   Charcot-Marie-Tooth disease, dominant, intermediate type, G.
DR   MIM; 617882; phenotype.
DR   MedGen; CN847583.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive intermediate A.
AC   DI-00267
AR   CMTRIA.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE   are characterized by clinical and pathologic features intermediate
DE   between demyelinating and axonal peripheral neuropathies, and motor
DE   median nerve conduction velocities ranging from 25 to 45 m/sec.
SY   Charcot-Marie-Tooth neuropathy recessive intermediate A.
SY   RI-CMTA.
DR   MIM; 608340; phenotype.
DR   MedGen; C1842197.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive intermediate B.
AC   DI-02946
AR   CMTRIB.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE   are characterized by clinical and pathologic features intermediate
DE   between demyelinating and axonal peripheral neuropathies, and motor
DE   median nerve conduction velocities ranging from 25 to 45 m/sec.
SY   Charcot-Marie-Tooth neuropathy recessive intermediate B.
SY   RI-CMTB.
DR   MIM; 613641; phenotype.
DR   MedGen; C3150897.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive intermediate C.
AC   DI-03862
AR   CMTRIC.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE   are characterized by clinical and pathologic features intermediate
DE   between demyelinating and axonal peripheral neuropathies, and motor
DE   median nerve conduction velocities ranging from 25 to 45 m/sec.
SY   Charcot-Marie-Tooth neuropathy recessive intermediate C.
SY   RI-CMTC.
DR   MIM; 615376; phenotype.
DR   MedGen; C3809309.
DR   MedGen; CN179767.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive intermediate D.
AC   DI-04254
AR   CMTRID.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease
DE   are characterized by clinical and pathologic features intermediate
DE   between demyelinating and axonal peripheral neuropathies, and motor
DE   median nerve conduction velocities ranging from 25 to 45 m/sec.
DR   MIM; 616039; phenotype.
DR   MedGen; CN219803.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, X-linked dominant, 1.
AC   DI-00293
AR   CMTX1.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE   on the basis of electrophysiologic properties and histopathology:
DE   primary peripheral demyelinating neuropathies characterized by
DE   severely reduced motor nerve conduction velocities (NCVs) (less than
DE   38m/s) and segmental demyelination and remyelination, and primary
DE   peripheral axonal neuropathies characterized by normal or mildly
DE   reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE   biopsy. CMTX1 has both demyelinating and axonal features. Central
DE   nervous system involvement may occur.
SY   Charcot-Marie-Tooth neuropathy X-linked 1.
SY   Charcot-Marie-Tooth peroneal muscular atrophy X-linked.
SY   CMTX.
SY   Hereditary motor and sensory neuropathy X-linked.
SY   HMSN X-linked.
DR   MIM; 302800; phenotype.
DR   MedGen; C0393808.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, X-linked dominant, 6.
AC   DI-03842
AR   CMTX6.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE   on the basis of electrophysiologic properties and histopathology:
DE   primary peripheral demyelinating neuropathies characterized by
DE   severely reduced motor nerve conduction velocities (NCVs) (less than
DE   38m/s) and segmental demyelination and remyelination, and primary
DE   peripheral axonal neuropathies characterized by normal or mildly
DE   reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE   biopsy.
SY   Charcot-Marie-Tooth neuropathy X-linked 6.
DR   MIM; 300905; phenotype.
DR   MedGen; C3806702.
DR   MedGen; CN178708.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia.
AC   DI-03693
AR   CMTX4.
DE   A neuromuscular disorder characterized by progressive sensorimotor
DE   axonal neuropathy, distal sensory impairment, difficulty walking due
DE   to peripheral neuropathy and/or cerebellar ataxia, and deafness due to
DE   auditory neuropathy. Additional features include cognitive impairment,
DE   cerebellar atrophy, dysarthria, abnormal extraocular movements,
DE   tremor, dysmetria and spasticity. The age at onset ranges from infancy
DE   to young adulthood.
SY   Charcot-Marie-Tooth disease X-linked recessive 4.
SY   Cowchock syndrome.
SY   COWCK.
SY   NADMR.
SY   NAMSD.
DR   MIM; 310490; phenotype.
DR   MedGen; C0795910.
DR   MeSH; D002607.
DR   MeSH; D006319.
DR   MeSH; D008607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Charcot-Marie-Tooth disease, X-linked recessive, 5.
AC   DI-01337
AR   CMTX5.
DE   A form of Charcot-Marie-Tooth disease, a disorder of the peripheral
DE   nervous system, characterized by progressive weakness and atrophy,
DE   initially of the peroneal muscles and later of the distal muscles of
DE   the arms. Charcot-Marie-Tooth disease is classified in two main groups
DE   on the basis of electrophysiologic properties and histopathology:
DE   primary peripheral demyelinating neuropathies characterized by
DE   severely reduced motor nerve conduction velocities (NCVs) (less than
DE   38m/s) and segmental demyelination and remyelination, and primary
DE   peripheral axonal neuropathies characterized by normal or mildly
DE   reduced NCVs and chronic axonal degeneration and regeneration on nerve
DE   biopsy.
SY   Charcot-Marie-Tooth neuropathy X-linked recessive 5.
SY   Optic atrophy with polyneuropathy and deafness.
SY   Rosenberg-Chutorian syndrome.
DR   MIM; 311070; phenotype.
DR   MedGen; C1839566.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   CHARGE syndrome.
AC   DI-01338
AR   CHARGES.
DE   Common cause of congenital anomalies. Is characterized by a non-random
DE   pattern of congenital anomalies including choanal atresia and
DE   malformations of the heart, inner ear, and retina.
DR   MIM; 214800; phenotype.
DR   MedGen; C0265354.
//
ID   Chediak-Higashi syndrome.
AC   DI-00295
AR   CHS.
DE   A rare autosomal recessive disorder characterized by hypopigmentation,
DE   severe immunologic deficiency, a bleeding tendency, neurologic
DE   abnormalities, abnormal intracellular transport to and from the
DE   lysosome, and giant inclusion bodies in a variety of cell types. Most
DE   patients die at an early age unless they receive an allogeneic
DE   hematopoietic stem cell transplant (SCT).
DR   MIM; 214500; phenotype.
DR   MedGen; C0007965.
DR   MedGen; CN068761.
DR   MedGen; CN068762.
DR   MeSH; D002609.
//
ID   Cherubism.
AC   DI-00296
AR   CRBM.
DE   An autosomal dominant syndrome characterized by excessive bone
DE   degradation of the upper and lower jaws, which often begins around
DE   three years of age. It is followed by development of fibrous tissue
DE   masses, which causes a characteristic facial swelling.
DR   MIM; 118400; phenotype.
DR   MedGen; C0008029.
DR   MeSH; D002636.
//
ID   Chilblain lupus 1.
AC   DI-01339
AR   CHBL1.
DE   A rare cutaneous form of lupus erythematosus. Affected individuals
DE   present with painful bluish-red papular or nodular lesions of the skin
DE   in acral locations precipitated by cold and wet exposure.
SY   Chilblain lupus erythematosus.
SY   CHLE.
SY   Hutchinson lupus.
DR   MIM; 610448; phenotype.
DR   MedGen; C0024145.
DR   MedGen; C3277619.
DR   MeSH; D008178.
//
ID   Chilblain lupus 2.
AC   DI-03338
AR   CHBL2.
DE   A rare cutaneous form of lupus erythematosus. Affected individuals
DE   present with painful bluish-red papular or nodular lesions of the skin
DE   in acral locations precipitated by cold and wet exposure.
DR   MIM; 614415; phenotype.
DR   MedGen; C3280721.
DR   MeSH; D008178.
//
ID   Childhood cancer retinoblastoma.
AC   DI-01340
AR   RB.
DE   Congenital malignant tumor that arises from the nuclear layers of the
DE   retina. It occurs in about 1:20'000 live births and represents about
DE   2% of childhood malignancies. It is bilateral in about 30% of cases.
DE   Although most RB appear sporadically, about 20% are transmitted as an
DE   autosomal dominant trait with incomplete penetrance. The diagnosis is
DE   usually made before the age of 2 years when strabismus or a gray to
DE   yellow reflex from pupil ('cat eye') is investigated.
DR   MIM; 180200; phenotype.
DR   MedGen; C1867262.
//
ID   Chilton-Okur-Chung neurodevelopmental syndrome.
AC   DI-06399
AR   CHOCNS.
DE   A disorder characterized by developmental delay, intellectual
DE   disability, hypotonia, and structural brain abnormalities including
DE   cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus
DE   callosum. Most patients have behavioral abnormalities, including
DE   autism spectrum disorder, attention deficit and hyperactivity
DE   disorder, and aggression. About half of patients have dysmorphic
DE   facial features. Rare involvement of other organ systems may be
DE   present.
DR   MIM; 619841; phenotype.
DR   MedGen; CN311959.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Chitayat syndrome.
AC   DI-04884
AR   CHYTS.
DE   An autosomal dominant syndrome characterized by hyperphalangism,
DE   partial syndactyly, bilateral accessory phalanx resulting in shortened
DE   index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse
DE   bronchomalacia, and respiratory distress at birth and in infancy.
DR   MIM; 617180; phenotype.
DR   MedGen; CN238868.
DR   MeSH; D017880.
DR   MeSH; D055091.
//
ID   Choanal atresia and lymphedema.
AC   DI-03023
AR   CATLPH.
DE   A disease characterized by posterior choanal atresia and lymphedema.
DE   Additional features are a high-arched palate, hypoplastic nipples, and
DE   mild pectus excavatum.
DR   MIM; 613611; phenotype.
DR   MedGen; C3150875.
DR   MeSH; D002754.
DR   MeSH; D008209.
//
ID   Cholestasis of pregnancy, intrahepatic 1.
AC   DI-00600
AR   ICP1.
DE   A liver disorder of pregnancy. It presents during the second or, more
DE   commonly, the third trimester of pregnancy with intense pruritus which
DE   becomes more severe with advancing gestation and cholestasis.
DE   Cholestasis results from abnormal biliary transport from the liver
DE   into the small intestine. ICP1 causes fetal distress, spontaneous
DE   premature delivery and intrauterine death. ICP1 patients have
DE   spontaneous and progressive disappearance of cholestasis after
DE   delivery.
SY   Obstetric cholestasis.
SY   Pregnancy-related cholestasis.
SY   Recurrent intrahepatic cholestasis of pregnancy.
DR   MIM; 147480; phenotype.
DR   MedGen; C0268318.
DR   MedGen; C3549845.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis of pregnancy, intrahepatic 3.
AC   DI-03634
AR   ICP3.
DE   A liver disorder of pregnancy. It presents during the second or, more
DE   commonly, the third trimester of pregnancy with intense pruritus which
DE   becomes more severe with advancing gestation and cholestasis. It
DE   causes fetal distress, spontaneous premature delivery and intrauterine
DE   death. Patients have spontaneous and progressive disappearance of
DE   cholestasis after delivery. Cholestasis results from abnormal biliary
DE   transport from the liver into the small intestine.
DR   MIM; 614972; phenotype.
DR   MedGen; C3554241.
DR   MedGen; CN162977.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, benign recurrent intrahepatic, 1.
AC   DI-00185
AR   BRIC1.
DE   A disorder characterized by intermittent episodes of cholestasis
DE   without progression to liver failure. There is initial elevation of
DE   serum bile acids, followed by cholestatic jaundice which generally
DE   spontaneously resolves after periods of weeks to months. The
DE   cholestatic attacks vary in severity and duration. Patients are
DE   asymptomatic between episodes, both clinically and biochemically.
SY   Recurrent familial intrahepatic cholestasis.
SY   Summerskill syndrome.
DR   MIM; 243300; phenotype.
DR   MedGen; C1855731.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, benign recurrent intrahepatic, 2.
AC   DI-00186
AR   BRIC2.
DE   A disorder characterized by intermittent episodes of cholestasis
DE   without progression to liver failure. There is initial elevation of
DE   serum bile acids, followed by cholestatic jaundice which generally
DE   spontaneously resolves after periods of weeks to months. The
DE   cholestatic attacks vary in severity and duration. Patients are
DE   asymptomatic between episodes, both clinically and biochemically.
DR   MIM; 605479; phenotype.
DR   MedGen; C2608083.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, neonatal intrahepatic, caused by citrin deficiency.
AC   DI-00799
AR   NICCD.
DE   A form of citrullinemia type 2 with neonatal onset, characterized by
DE   suppression of the bile flow, hepatic fibrosis, low birth weight,
DE   growth retardation, hypoproteinemia, variable liver dysfunction.
DE   Neonatal intrahepatic cholestasis due to citrin deficiency is
DE   generally not severe and symptoms disappear by one year of age with an
DE   appropriate diet. Years or even decades later, however, some
DE   individuals develop the characteristic features of citrullinemia type
DE   2 with neuropsychiatric symptoms.
SY   Citrin deficiency.
SY   Citrullinemia, type II, neonatal-onset.
SY   Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia.
SY   Neonatal-onset citrullinemia type 2.
SY   Neonatal-onset citrullinemia type II.
DR   MIM; 605814; phenotype.
DR   MedGen; C1853942.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 1.
AC   DI-00949
AR   PFIC1.
DE   A disorder characterized by early onset of cholestasis that progresses
DE   to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE   adulthood. PFIC1 inheritance is autosomal recessive.
SY   Byler disease.
SY   Fatal intrahepatic cholestasis.
DR   MIM; 211600; phenotype.
DR   MedGen; C0268312.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 10.
AC   DI-06418
AR   PFIC10.
DE   A form of progressive cholestasis, a disorder characterized by early
DE   onset of cholestasis that progresses to hepatic fibrosis, cirrhosis,
DE   and end-stage liver disease. PFIC10 is an autosomal recessive form
DE   with highly variable phenotype and severity, manifesting in the first
DE   months or years of life.
DR   MIM; 619868; phenotype.
DR   MedGen; CN312031.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 11.
AC   DI-06419
AR   PFIC11.
DE   An autosomal recessive form of progressive cholestasis, a disorder
DE   characterized by early onset of cholestasis that progresses to hepatic
DE   fibrosis, cirrhosis, and end-stage liver disease.
DR   MIM; 619874; phenotype.
DR   MedGen; CN312035.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 12.
AC   DI-06487
AR   PFIC12.
DE   A form of progressive cholestasis, a disorder characterized by early
DE   onset of cholestasis that progresses to hepatic fibrosis, cirrhosis,
DE   and end-stage liver disease. PFIC12 is an autosomal recessive form
DE   characterized by neonatal-onset jaundice and conjugated
DE   hyperbilirubinemia, associated with intense pruritus.
SY   Cholestasis, isolated low -GGT.
DR   MIM; 620010; phenotype.
DR   MedGen; CN315950.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 2.
AC   DI-00950
AR   PFIC2.
DE   A disorder characterized by early onset of cholestasis that progresses
DE   to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE   adulthood. PFIC2 inheritance is autosomal recessive.
DR   MIM; 601847; phenotype.
DR   MedGen; C1866138.
DR   MedGen; C3489789.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 3.
AC   DI-00951
AR   PFIC3.
DE   A disorder characterized by early onset of cholestasis that progresses
DE   to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE   adulthood. PFIC3 inheritance is autosomal recessive.
SY   MDR3 deficiency.
SY   Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase.
DR   MIM; 602347; phenotype.
DR   MedGen; C1865643.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 4.
AC   DI-04152
AR   PFIC4.
DE   A disorder characterized by early onset of cholestasis that progresses
DE   to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE   adulthood. PFIC4 inheritance is autosomal recessive.
DR   MIM; 615878; phenotype.
DR   MedGen; C2931067.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 5.
AC   DI-04774
AR   PFIC5.
DE   A disorder characterized by early onset of cholestasis that progresses
DE   to hepatic fibrosis, cirrhosis, and end-stage liver disease before
DE   adulthood. PFIC5 is an autosomal recessive, severe form characterized
DE   by onset of intralobular cholestasis in the neonatal period.
DR   MIM; 617049; phenotype.
DR   MedGen; CN237812.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 6.
AC   DI-06201
AR   PFIC6.
DE   An autosomal recessive form of progressive cholestasis, a disorder
DE   characterized by early onset of cholestasis that progresses to hepatic
DE   fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have
DE   elevated liver transaminases and congenital diarrhea.
DR   MIM; 619484; phenotype.
DR   MedGen; CN301147.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss.
AC   DI-06293
AR   PFIC7.
DE   An autosomal recessive form of progressive cholestasis, a disorder
DE   characterized by early onset of cholestasis that progresses to hepatic
DE   fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients
DE   develop hearing loss in childhood.
DR   MIM; 619658; phenotype.
DR   MedGen; CN305244.
DR   MeSH; D002780.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 8.
AC   DI-06294
AR   PFIC8.
DE   An autosomal recessive form of progressive cholestasis, a disorder
DE   characterized by early onset of cholestasis that progresses to hepatic
DE   fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in
DE   early infancy.
DR   MIM; 619662; phenotype.
DR   MedGen; CN305247.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholestasis, progressive familial intrahepatic, 9.
AC   DI-06404
AR   PFIC9.
DE   An autosomal recessive form of progressive cholestasis, a disorder
DE   characterized by early onset of cholestasis that progresses to hepatic
DE   fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in
DE   infancy or early childhood.
DR   MIM; 619849; phenotype.
DR   MedGen; CN312013.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
KW   KW-1186:Ciliopathy.
//
ID   Cholesteryl ester storage disease.
AC   DI-00301
AR   CESD.
DE   An autosomal recessive, mild form of lysosomal acid lipase deficiency
DE   characterized by accumulation of cholesteryl esters and triglycerides
DE   primarily in the liver. The clinical presentation is highly variable
DE   depending on residual levels of lysosomal acid lipase activity, and
DE   ranges from early onset of severe cirrhosis to later onset of more
DE   slowly progressive hepatic disease with survival into adulthood. Age
DE   at onset varies from childhood to adulthood.
SY   Cholesterol ester hydrolase deficiency, partial.
SY   Cholesterol ester storage disease.
SY   LAL deficiency, partial.
SY   LIPA deficiency, partial.
SY   Lysosomal acid lipase deficiency, partial.
DR   MIM; 278000; phenotype.
DR   MedGen; C0043208.
DR   MedGen; CN205686.
DR   MeSH; D015217.
DR   MeSH; D015223.
//
ID   Chondrocalcinosis 2.
AC   DI-01342
AR   CCAL2.
DE   Chondrocalcinosis is a common cause of joint pain and arthritis caused
DE   by calcium deposition in articular cartilage and the presence of
DE   calcium hypophosphate crystals in synovial fluid, cartilage and
DE   periarticular soft tissue. CCAL2 inheritance is autosomal dominant.
SY   Calcium gout.
SY   Calcium pyrophosphate arthropathy.
SY   Calcium pyrophosphate dihydrate deposition disease.
SY   Calcium pyrophosphate dihydrate deposition disease 2.
SY   Chondrocalcinosis, familial articular.
SY   CPPDD.
SY   CPPDD2.
SY   Familial articular chondrocalcinosis.
DR   MIM; 118600; phenotype.
DR   MedGen; C0856830.
DR   MeSH; D002805.
//
ID   Chondrodysplasia Blomstrand type.
AC   DI-01343
AR   BOCD.
DE   Severe skeletal dysplasia.
DR   MIM; 215045; phenotype.
DR   MedGen; C1859148.
//
ID   Chondrodysplasia punctata 1, X-linked recessive.
AC   DI-00302
AR   CDPX1.
DE   A clinically and genetically heterogeneous disorder characterized by
DE   punctiform calcification of the bones. CDPX1 is a congenital defect of
DE   bone and cartilage development characterized by aberrant bone
DE   mineralization, severe underdevelopment of nasal cartilage, and distal
DE   phalangeal hypoplasia. This disease can also be induced by inhibition
DE   with the drug warfarin.
SY   Chondrodysplasia punctata brachytelephalangic.
DR   MIM; 302950; phenotype.
DR   MedGen; C1844853.
DR   MeSH; D002806.
//
ID   Chondrodysplasia punctata 2, X-linked dominant.
AC   DI-00303
AR   CDPX2.
DE   A clinically and genetically heterogeneous disorder characterized by
DE   punctiform calcification of the bones. The key clinical features of
DE   CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and
DE   short stature. CDPX2 is a rare disorder of defective cholesterol
DE   biosynthesis, biochemically characterized by an increased amount of 8-
DE   dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and
DE   tissues.
SY   CHH.
SY   Conradi-Hunermann-Happle syndrome.
SY   Conradi-Hunermann syndrome.
SY   Happle syndrome.
DR   MIM; 302960; phenotype.
DR   MedGen; C0282102.
DR   MedGen; C2931843.
DR   MeSH; D002806.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
KW   KW-0977:Ichthyosis.
//
ID   Chondrodysplasia with joint dislocations, GPAPP type.
AC   DI-03139
AR   CDP-GPAPP.
DE   A condition consisting of congenital joint dislocations,
DE   chondrodysplasia with short stature, micrognathia and cleft palate,
DE   and a distinctive face.
SY   GPAPP deficiency.
DR   MIM; 614078; phenotype.
DR   MedGen; C3279757.
DR   MeSH; D010009.
//
ID   Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
AC   DI-03899
AR   CDP-PBHM.
DE   A disease characterized by chondrodysplasia, severe platyspondyly,
DE   hydrocephaly, and facial features with microphthalmia. Bone
DE   abnormalities include a distinctive metaphyseal cupping of the
DE   metacarpals, metatarsals, and phalanges. Affected females show a
DE   milder phenotype with small stature, sometimes associated with body
DE   asymmetry and mild intellectual disability.
DR   MIM; 300863; phenotype.
DR   MedGen; C3275476.
DR   MeSH; D010009.
//
ID   Chondrosarcoma.
AC   DI-02741
AR   CHDSA.
DE   A malignant neoplasm derived from cartilage cells. Chondrosarcomas
DE   range from slow-growing non-metastasizing lesions to highly aggressive
DE   metastasizing sarcomas.
DR   MIM; 215300; phenotype.
DR   MedGen; C0008479.
DR   MeSH; D002813.
//
ID   Chopra-Amiel-Gordon syndrome.
AC   DI-06214
AR   CAGS.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   intellectual disability, speech delay, and dysmorphic facial features.
DE   Additional features include growth failure, feeding difficulties, non-
DE   specific brain abnormalities, ophthalmological abnormalities, gait and
DE   balance disturbance, joint hypermobility, and predisposition to
DE   recurrent infections.
DR   MIM; 619504; phenotype.
DR   MedGen; CN300380.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   CHOPS syndrome.
AC   DI-04427
AR   CHOPS.
DE   A syndrome characterized by cognitive impairment, coarse facies, heart
DE   defects, obesity, pulmonary involvement, short stature, and skeletal
DE   dysplasia.
DR   MIM; 616368; phenotype.
DR   MedGen; CN230323.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0550:Obesity.
//
ID   Chordoma.
AC   DI-02579
AR   CHDM.
DE   Rare, clinically malignant tumors derived from notochordal remnants.
DE   They occur along the length of the spinal axis, predominantly in the
DE   sphenooccipital, vertebral and sacrococcygeal regions. They are
DE   characterized by slow growth, local destruction of bone, extension
DE   into adjacent soft tissues and rarely, distant metastatic spread.
DR   MIM; 215400; phenotype.
DR   MedGen; C0008487.
DR   MeSH; D002817.
//
ID   Chorea, childhood-onset, with psychomotor retardation.
AC   DI-04724
AR   COCPMR.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   abnormal involuntary movements, marked speech delay, intellectual
DE   disability and learning difficulties.
DR   MIM; 616939; phenotype.
DR   MedGen; CN236418.
DR   MeSH; D002819.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Chorea, hereditary benign.
AC   DI-01272
AR   BHC.
DE   A rare autosomal dominant movement disorder, defined by early onset in
DE   childhood, a stable or non-progressive course of chorea, and no mental
DE   deterioration. Chorea is characterized by involuntary, forcible,
DE   rapid, jerky movements that may be subtle or become confluent,
DE   markedly altering normal patterns of movement.
SY   Hereditary chorea without dementia.
DR   MIM; 118700; phenotype.
DR   MedGen; C0393584.
DR   MeSH; D002819.
//
ID   Choreoacanthocytosis.
AC   DI-01344
AR   CHAC.
DE   An autosomal recessive neurodegenerative disorder characterized by the
DE   gradual onset of hyperkinetic movements and abnormal erythrocyte
DE   morphology. Basal ganglia atrophy in the brain is a pathological
DE   feature of the disease. Other clinical symptoms include psychiatric
DE   features, epilepsy, peripheral neuropathy, myopathy and oral self-
DE   mutilation.
SY   Acanthocytosis with neurologic disorder.
SY   Chorea-acanthocytosis.
SY   Levine-Critchley syndrome.
SY   Neuroacanthocytosis.
DR   MIM; 200150; phenotype.
DR   MedGen; C0393576.
DR   MeSH; D054546.
KW   KW-0523:Neurodegeneration.
//
ID   Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction.
AC   DI-01345
AR   CAHTP.
DE   An autosomal dominant disorder that manifests in infancy with
DE   neurological disturbances, hypothyroidism, and respiratory problems.
DE   It is characterized by movement abnormalities beginning with muscular
DE   hypotonia followed by the development of chorea, athetosis, dystonia,
DE   ataxia, and dysarthria.
SY   Brain-lung-thyroid syndrome.
SY   Choreoathetosis, hypothyroidism, and neonatal respiratory distress.
DR   MIM; 610978; phenotype.
DR   MedGen; C1970269.
DR   MedGen; C1970270.
DR   MeSH; D001264.
DR   MeSH; D002819.
DR   MeSH; D003409.
DR   MeSH; D012127.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Chorioretinal atrophy, progressive bifocal.
AC   DI-06013
AR   PBCRA.
DE   An autosomal dominant, progressive chorioretinal dystrophy
DE   characterized by atrophic macular and nasal retinal lesions evident
DE   soon after birth, nystagmus, myopia, and poor vision. Retinal
DE   detachment is observed in some patients.
SY   Progressive bifocal chorioretinal atrophy.
DR   MIM; 600790; phenotype.
DR   MedGen; C1833321.
DR   MeSH; D012164.
//
ID   Choroidal dystrophy, central areolar 2.
AC   DI-01330
AR   CACD2.
DE   A form of central areolar choroidal dystrophy, a retinal disease that
DE   affects the macula and results in a well-demarcated circumscribed area
DE   of atrophy of the pigment epithelium and choriocapillaris.
DR   MIM; 613105; phenotype.
DR   MedGen; C2751290.
DR   MeSH; D012164.
//
ID   Choroidal dystrophy, central areolar, 1.
AC   DI-05168
AR   CACD1.
DE   A form of central areolar choroidal dystrophy, a retinal disease that
DE   affects the macula and results in a well-demarcated circumscribed area
DE   of atrophy of the pigment epithelium and choriocapillaris. CACD1
DE   inheritance is autosomal recessive.
SY   CACD.
SY   Choroidal dystrophy.
SY   Choroidal dystrophy, central areolar.
DR   MIM; 215500; phenotype.
DR   MedGen; C0344297.
DR   MedGen; C1536451.
DR   MeSH; D012164.
//
ID   Choroideremia.
AC   DI-01347
AR   CHM.
DE   An X-linked recessive disease characterized by a slowly progressive
DE   degeneration of the choroid, photoreceptors, and retinal pigment
DE   epithelium. Affected males develop night blindness in their teenage
DE   years followed by loss of peripheral vision and complete blindness at
DE   middle age. Carrier females are generally asymptomatic but funduscopic
DE   examination often shows patchy areas of chorioretinal atrophy.
SY   Progressive tapetochoroidal dystrophy.
SY   TCD.
DR   MIM; 303100; phenotype.
DR   MedGen; C0008525.
DR   MedGen; C0344297.
DR   MeSH; D015794.
//
ID   Chronic atrial and intestinal dysrhythmia.
AC   DI-04314
AR   CAID.
DE   A disease characterized by dysregulation of the cardiac sinus node
DE   resulting in sick sinus syndrome, in association with chronic
DE   intestinal pseudo-obstruction, a disorder of gastrointestinal motility
DE   in which intestinal obstruction occurs in the absence of a mechanical
DE   obstacle.
DR   MIM; 616201; phenotype.
DR   MedGen; CN225197.
DR   MeSH; D007418.
DR   MeSH; D012804.
//
ID   Chronic infantile neurologic cutaneous and articular syndrome.
AC   DI-01349
AR   CINCA.
DE   Rare congenital inflammatory disorder characterized by a triad of
DE   neonatal onset of cutaneous symptoms, chronic meningitis, and joint
DE   manifestations with recurrent fever and inflammation.
SY   CAPS3.
SY   CINCA syndrome.
SY   Cryopyrin-associated periodic syndrome 3.
SY   Neonatal onset multisystem inflammatory disease.
SY   NOMID.
DR   MIM; 607115; phenotype.
DR   MedGen; C0409818.
DR   MeSH; D056587.
//
ID   Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis.
AC   DI-02552
AR   CRMO2.
DE   An autosomal recessive, autoinflammatory disease of skin and bone
DE   resulting in sterile multifocal osteomyelitis, periostitis, and
DE   pustulosis from birth. The term autoinflammatory disease describes a
DE   group of disorders characterized by attacks of seemingly unprovoked
DE   inflammation without significant levels of autoantibodies and
DE   autoreactive T-cells.
SY   Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency.
SY   DIRA.
SY   Interleukin 1 receptor antagonist deficiency.
SY   OMPP.
SY   Osteomyelitis, sterile multifocal, with periostitis and pustulosis.
DR   MIM; 612852; phenotype.
DR   MedGen; C2748507.
DR   MeSH; D056660.
//
ID   Chronic recurrent multifocal osteomyelitis 3.
AC   DI-06753
AR   CRMO3.
DE   An autosomal dominant autoinflammatory bone disease characterized by
DE   early-childhood onset of bone pain and arthritis caused by sterile
DE   osteomyelitis.
SY   CMO.
SY   Osteomyelitis, chronic multifocal.
DR   MIM; 259680; phenotype.
DR   MedGen; C0410422.
DR   MeSH; D056660.
//
ID   Chudley-McCullough syndrome.
AC   DI-02897
AR   CMCS.
DE   An autosomal recessive neurologic disorder characterized by early-
DE   onset sensorineural deafness and specific brain anomalies on MRI,
DE   including hypoplasia of the corpus callosum, enlarged cysterna magna
DE   with mild focal cerebellar dysplasia, and nodular heterotopia. Some
DE   patients have hydrocephalus. Psychomotor development is normal.
SY   Deafness autosomal recessive 82.
SY   DFNB82.
SY   Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts.
DR   MIM; 604213; phenotype.
DR   MedGen; C1858695.
DR   MeSH; D006319.
DR   MeSH; D016080.
DR   MeSH; D061085.
KW   KW-0209:Deafness.
//
ID   Chung-Jansen syndrome.
AC   DI-05259
AR   CHUJANS.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   intellectual disability, autistic features, anxiety, hypotonia,
DE   obesity, and dysmorphic features.
SY   Developmental delay, intellectual disability, obesity, and dysmorphic features.
SY   DIDOD.
DR   MIM; 617991; phenotype.
DR   MedGen; CN248510.
DR   MeSH; D009765.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Chylomicron retention disease.
AC   DI-00308
AR   CMRD.
DE   An autosomal recessive disorder of severe fat malabsorption associated
DE   with failure to thrive in infancy. The condition is characterized by
DE   deficiency of fat-soluble vitamins, low blood cholesterol levels, and
DE   a selective absence of chylomicrons from blood. Affected individuals
DE   accumulate chylomicron-like particles in membrane-bound compartments
DE   of enterocytes, which contain large cytosolic lipid droplets.
SY   ANDD.
SY   Anderson disease.
SY   Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells.
SY   Lipid transport defect of intestine.
DR   MIM; 246700; phenotype.
DR   MedGen; C0795956.
DR   MeSH; D006995.
DR   MeSH; D008286.
//
ID   Ciliary dyskinesia, primary, 1.
AC   DI-00929
AR   CILD1.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS1.
SY   Immotile cilia syndrome 1.
SY   PCD.
SY   Primary ciliary dyskinesia.
DR   MIM; 244400; phenotype.
DR   MedGen; C0022521.
DR   MeSH; D002925.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 10.
AC   DI-00934
AR   CILD10.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS10.
SY   Immotile cilia syndrome 10.
SY   Primary ciliary dyskinesia 10 with or without situs inversus.
DR   MIM; 612518; phenotype.
DR   MedGen; C2675867.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 11.
AC   DI-02199
AR   CILD11.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit situs inversus, due to dysfunction
DE   of monocilia at the embryonic node and randomization of left-right
DE   body asymmetry. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS11.
SY   Immotile cilia syndrome 11.
SY   Primary ciliary dyskinesia 11 without situs inversus.
DR   MIM; 612649; phenotype.
DR   MedGen; C2675229.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 12.
AC   DI-02200
AR   CILD12.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit situs inversus, due to dysfunction
DE   of monocilia at the embryonic node and randomization of left-right
DE   body asymmetry. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS12.
SY   Immotile cilia syndrome 12.
SY   Primary ciliary dyskinesia 12 without situs inversus.
DR   MIM; 612650; phenotype.
DR   MedGen; C2675228.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 13.
AC   DI-02569
AR   CILD13.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome. At ultrastructural
DE   level, CILD13 is characterized by a marked reduction or absence of
DE   both dynein arms from the patients cilia.
SY   ICS13.
SY   Immotile cilia syndrome 13.
SY   Primary ciliary dyskinesia 13 with or without situs inversus.
DR   MIM; 613193; phenotype.
DR   MedGen; C2750790.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 14.
AC   DI-03024
AR   CILD14.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS14.
SY   Immotile cilia syndrome 14.
SY   Primary ciliary dyskinesia 14 with or without situs inversus.
DR   MIM; 613807; phenotype.
DR   MedGen; C3151136.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 15.
AC   DI-03025
AR   CILD15.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS15.
SY   Immotile cilia syndrome 15.
SY   Primary ciliary dyskinesia 15 with or without situs inversus.
DR   MIM; 613808; phenotype.
DR   MedGen; C3151137.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 16.
AC   DI-03134
AR   CILD16.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS16.
SY   Immotile cilia syndrome 16.
SY   Primary ciliary dyskinesia 16 with or without situs inversus.
DR   MIM; 614017; phenotype.
DR   MedGen; C3151460.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 17.
AC   DI-03466
AR   CILD17.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS17.
SY   Immotile cilia syndrome 17.
SY   Primary ciliary dyskinesia 17 with or without situs inversus.
DR   MIM; 614679; phenotype.
DR   MedGen; C3542550.
DR   MedGen; CN128721.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 18.
AC   DI-03539
AR   CILD18.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS18.
SY   Immotile cilia syndrome 18.
SY   Primary ciliary dyskinesia 18 with or without situs inversus.
DR   MIM; 614874; phenotype.
DR   MedGen; C3543825.
DR   MedGen; CN158803.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 19.
AC   DI-03564
AR   CILD19.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS19.
SY   Immotile cilia syndrome 19.
SY   Primary ciliary dyskinesia 19 with or without situs inversus.
DR   MIM; 614935; phenotype.
DR   MedGen; C3543826.
DR   MedGen; CN160616.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 2.
AC   DI-03362
AR   CILD2.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS2.
SY   Immotile cilia syndrome 2.
SY   Primary ciliary dyskinesia 2 with or without situs inversus.
DR   MIM; 606763; phenotype.
DR   MedGen; C1847554.
DR   MeSH; D002925.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 20.
AC   DI-03643
AR   CILD20.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome. Unlike other forms of CILD characterized by reduced
DE   fertility, patients with CILD20 do not appear to be infertile.
SY   ICS20.
SY   Immotile cilia syndrome 20.
SY   Primary ciliary dyskinesia 20 with or without situs inversus.
DR   MIM; 615067; phenotype.
DR   MedGen; C3540844.
DR   MedGen; CN165472.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 21.
AC   DI-03807
AR   CILD21.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 21 without situs inversus.
DR   MIM; 615294; phenotype.
DR   MedGen; C3809087.
DR   MedGen; CN177725.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 22.
AC   DI-03904
AR   CILD22.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 22 with or without situs inversus.
DR   MIM; 615444; phenotype.
DR   MedGen; C3809543.
DR   MedGen; CN180179.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 23.
AC   DI-03903
AR   CILD23.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 23 with or without situs inversus.
DR   MIM; 615451; phenotype.
DR   MedGen; C3809548.
DR   MedGen; CN180185.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 24.
AC   DI-03916
AR   CILD24.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Situs inversus is
DE   not observed in CILD24 patients.
DR   MIM; 615481; phenotype.
DR   MedGen; C3809634.
DR   MedGen; CN180199.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 25.
AC   DI-03917
AR   CILD25.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 25 with or without situs inversus.
DR   MIM; 615482; phenotype.
DR   MedGen; C3809641.
DR   MedGen; CN180234.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 26.
AC   DI-03936
AR   CILD26.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 26 with or without situs inversus.
DR   MIM; 615500; phenotype.
DR   MedGen; C3809684.
DR   MedGen; CN181205.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 27.
AC   DI-03938
AR   CILD27.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 27 with or without situs inversus.
DR   MIM; 615504; phenotype.
DR   MedGen; C3809701.
DR   MedGen; CN181206.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 28.
AC   DI-03944
AR   CILD28.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 28 with or without situs inversus.
DR   MIM; 615505; phenotype.
DR   MedGen; C3809706.
DR   MedGen; CN181207.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 29.
AC   DI-04144
AR   CILD29.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. CILD29 patients do
DE   not exhibit situs inversus, a congenital abnormality in which visceral
DE   organs are opposite to their normal positions (situs solitus) due to
DE   lateral transposition.
SY   Primary ciliary dyskinesia without situs inversus.
DR   MIM; 615872; phenotype.
DR   MedGen; CN189713.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 3.
AC   DI-00930
AR   CILD3.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   Ciliary dyskinesia, primary, 3, with or without situs inversus.
SY   ICS3.
SY   Immotile cilia syndrome 3.
DR   MIM; 608644; phenotype.
DR   MedGen; C1837618.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 30.
AC   DI-04247
AR   CILD30.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia. Patients may
DE   exhibit randomization of left-right body asymmetry and situs inversus,
DE   due to dysfunction of monocilia at the embryonic node. Primary ciliary
DE   dyskinesia associated with situs inversus is referred to as Kartagener
DE   syndrome.
SY   Primary ciliary dyskinesia 30 with or without situs inversus.
DR   MIM; 616037; phenotype.
DR   MedGen; CN219801.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 32.
AC   DI-04489
AR   CILD32.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia.
SY   Ciliary dyskinesia, primary, 32, without situs inversus.
DR   MIM; 616481; phenotype.
DR   MedGen; CN231728.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 33.
AC   DI-04621
AR   CILD33.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD33 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 33, without situs inversus.
DR   MIM; 616726; phenotype.
DR   MedGen; CN234871.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 34.
AC   DI-04822
AR   CILD34.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD34 inheritance is autosomal recessive.
DR   MIM; 617091; phenotype.
DR   MedGen; CN238099.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 35.
AC   DI-04827
AR   CILD35.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD35 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 35 with or without situs inversus.
SY   Primary ciliary dyskinesia 35 with or without situs inversus.
DR   MIM; 617092; phenotype.
DR   MedGen; CN238358.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 36, X-linked.
AC   DI-04940
AR   CILD36.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD36 inheritance is X-linked recessive. About half of CILD36
DE   patients have laterality defects due to ciliary dysfunction at the
DE   embryonic node.
SY   Ciliary dyskinesia, primary, 36, with or without situs inversus.
DR   MIM; 300991; phenotype.
DR   MedGen; CN240511.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 37.
AC   DI-05029
AR   CILD37.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD37 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 37, with or without situs inversus.
DR   MIM; 617577; phenotype.
DR   MedGen; CN337167.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 38.
AC   DI-05283
AR   CILD38.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD38 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 38, with or without situs inversus.
DR   MIM; 618063; phenotype.
DR   MedGen; CN252651.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 39.
AC   DI-05437
AR   CILD39.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD39 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 39, with or without situs inversus.
DR   MIM; 618254; phenotype.
DR   MedGen; CN257535.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 40.
AC   DI-05451
AR   CILD40.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Some patients exhibit randomization of left-
DE   right body asymmetry and situs inversus. Primary ciliary dyskinesia
DE   associated with situs inversus is referred to as Kartagener syndrome.
DE   CILD40 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 40, with or without situs inversus.
DR   MIM; 618300; phenotype.
DR   MedGen; CN258165.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 41.
AC   DI-05575
AR   CILD41.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD41 inheritance is autosomal recessive.
DR   MIM; 618449; phenotype.
DR   MedGen; CN258815.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 42.
AC   DI-05714
AR   CILD42.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Other more variable features may include
DE   infertility and mild hydrocephalus. Patients with this form of the
DE   disorder do not have situs abnormalities. CILD42 inheritance is
DE   autosomal recessive.
SY   Ciliary dyskinesia, primary, 42, without situs inversus.
DR   MIM; 618695; phenotype.
DR   MedGen; CN263051.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 43.
AC   DI-05715
AR   CILD43.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. Patients with this disorder also develop
DE   significant obstructive hydrocephalus. Other more variable features
DE   include infertility and about a 50% chance of situs inversus or other
DE   left-right asymmetry defects. CILD43 inheritance is autosomal
DE   dominant.
SY   Ciliary dyskinesia, primary, 43 with or without situs inversus.
DR   MIM; 618699; phenotype.
DR   MedGen; CN263052.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 44.
AC   DI-05765
AR   CILD44.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD44 inheritance is autosomal recessive.
SY   Ciliary dyskinesia, primary, 44 without situs inversus.
DR   MIM; 618781; phenotype.
DR   MedGen; CN263303.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 45.
AC   DI-05780
AR   CILD45.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD45 is an autosomal recessive form
DE   characterized by onset of symptoms in infancy or early childhood. Male
DE   patients have infertility due to immotile sperm.
SY   Ciliary dyskinesia, primary, 45, without situs inversus.
DR   MIM; 618801; phenotype.
DR   MedGen; CN263351.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 46.
AC   DI-06168
AR   CILD46.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD46 is an autosomal recessive form. No
DE   situs abnormalities have been observed.
DR   MIM; 619436; phenotype.
DR   MedGen; CN299795.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 47, and lissencephaly.
AC   DI-06185
AR   CILD47.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD47 is an autosomal recessive form
DE   characterized by onset soon after birth or in early childhood.
DE   Affected individuals also have neurologic features, such as impaired
DE   intellectual development and central hypotonia, associated with
DE   structural brain abnormalities, most notably lissencephaly and thin or
DE   absent corpus callosum. No situs abnormalities have been observed.
DR   MIM; 619466; phenotype.
DR   MedGen; CN300320.
DR   MeSH; D002925.
KW   KW-0451:Lissencephaly.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 48, without situs inversus.
AC   DI-06504
AR   CILD48.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD48 is an autosomal recessive form. No
DE   situs abnormalities have been observed.
DR   MIM; 620032; phenotype.
DR   MedGen; CN322038.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 49, without situs inversus.
AC   DI-06590
AR   CILD49.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD49 is an autosomal recessive form
DE   without situs abnormalities. Affected males also show infertility due
DE   to defective flagellar morphology and function.
DR   MIM; 620197; phenotype.
DR   MedGen; CN322839.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 5.
AC   DI-03560
AR   CILD5.
DE   An autosomal recessive form of primary dyskinesia, a disorder
DE   characterized by abnormalities of motile cilia. Respiratory infections
DE   leading to chronic inflammation and bronchiectasis are recurrent, due
DE   to defects in the respiratory cilia; reduced fertility is often
DE   observed in male patients due to abnormalities of sperm tails. Half of
DE   the patients exhibit randomization of left-right body asymmetry and
DE   situs inversus, due to dysfunction of monocilia at the embryonic node.
DE   Primary ciliary dyskinesia associated with situs inversus is referred
DE   to as Kartagener syndrome. CILD5 is characterized by early onset of a
DE   progressive decline in lung function due to an inability to clear
DE   mucus and particles from the airways. Affected individuals have
DE   recurrent infections of the sinuses, ears, airways, and lungs. Sperm
DE   motility is also decreased. Individuals with CILD5 do not have situs
DE   inversus.
SY   ICS5.
SY   Immotile cilia syndrome 5.
SY   Primary ciliary dyskinesia 5 with or without situs inversus.
DR   MIM; 608647; phenotype.
DR   MedGen; C1837615.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Ciliary dyskinesia, primary, 50.
AC   DI-06669
AR   CILD50.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD50 is an autosomal recessive form
DE   characterized by chronic sinusitis and bronchitis as well as male
DE   infertility. Patient sperm have markedly reduced progressive motility,
DE   and multiple morphologic abnormalities of the flagella.
DR   MIM; 620356; phenotype.
DR   MedGen; CN327032.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 51.
AC   DI-06701
AR   CILD51.
DE   A form of primary ciliary dyskinesia, a disorder characterized by
DE   abnormalities of motile cilia. Respiratory infections leading to
DE   chronic inflammation and bronchiectasis are recurrent, due to defects
DE   in the respiratory cilia. CILD51is an autosomal recessive form
DE   characterized by male infertility due to multiple morphologic
DE   abnormalities of the sperm flagella, resulting in severely reduced
DE   progressive motility. Affected individuals have recurrent upper and
DE   lower respiratory infections, and some exhibit dextrocardia and/or
DE   situs inversus.
DR   MIM; 620438; phenotype.
DR   MedGen; CN372242.
DR   MeSH; D002925.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 6.
AC   DI-00931
AR   CILD6.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS6.
SY   Immotile cilia syndrome 6.
DR   MIM; 610852; phenotype.
DR   MedGen; C1970506.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 7.
AC   DI-00932
AR   CILD7.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS7.
SY   Immotile cilia syndrome 7.
DR   MIM; 611884; phenotype.
DR   MedGen; C2678473.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Ciliary dyskinesia, primary, 9.
AC   DI-00933
AR   CILD9.
DE   A disorder characterized by abnormalities of motile cilia. Respiratory
DE   infections leading to chronic inflammation and bronchiectasis are
DE   recurrent, due to defects in the respiratory cilia; reduced fertility
DE   is often observed in male patients due to abnormalities of sperm
DE   tails. Half of the patients exhibit randomization of left-right body
DE   asymmetry and situs inversus, due to dysfunction of monocilia at the
DE   embryonic node. Primary ciliary dyskinesia associated with situs
DE   inversus is referred to as Kartagener syndrome.
SY   ICS9.
SY   Immotile cilia syndrome 9.
SY   Primary ciliary dyskinesia 9 with or without situs inversus.
DR   MIM; 612444; phenotype.
DR   MedGen; C2676235.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   CIMDAG syndrome.
AC   DI-06081
AR   CIMDAG.
DE   An autosomal dominant syndrome characterized by global developmental
DE   delay, severely impaired intellectual development, poor or absent
DE   speech, microcephaly, growth retardation, poor motor skills with
DE   inability to walk, hypotonia and spasticity, and cataracts. Cerebral
DE   and cerebellar atrophy, thin corpus callosum, and delayed myelination
DE   are apparent on brain imaging. Affected individuals show hematologic
DE   abnormalities mostly consistent with congenital dyserythropoietic
DE   anemia.
SY   Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation.
DR   MIM; 619273; phenotype.
DR   MedGen; CN296467.
DR   MeSH; D000740.
DR   MeSH; D065886.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Cirrhosis.
AC   DI-01454
AR   CIRRH.
DE   A liver disease characterized by severe panlobular liver-cell swelling
DE   with Mallory body formation, prominent pericellular fibrosis, and
DE   marked deposits of copper. Clinical features include abdomen swelling,
DE   jaundice and pulmonary hypertension.
SY   Cryptogenic cirrhosis.
DR   MIM; 215600; phenotype.
DR   MedGen; C0267809.
DR   MedGen; C0268074.
DR   MedGen; C1835713.
DR   MedGen; C1859088.
DR   MedGen; C1861556.
DR   MedGen; C1876164.
DR   MedGen; C1876165.
DR   MedGen; C1876166.
//
ID   Citrullinemia 1.
AC   DI-00309
AR   CTLN1.
DE   The classic form of citrullinemia, an autosomal recessive disease
DE   characterized primarily by elevated serum and urine citrulline levels.
DE   Ammonia intoxication is another manifestation. It is a disorder of the
DE   urea cycle, usually manifesting in the first few days of life.
DE   Affected infants appear normal at birth, but as ammonia builds up in
DE   the body they present symptoms such as lethargy, poor feeding,
DE   vomiting, seizures and loss of consciousness. Less commonly, a milder
DE   form can develop later in childhood or adulthood.
SY   Argininosuccinate synthetase deficiency.
SY   ASS deficiency.
SY   Citrullinemia type I.
SY   Citrullinuria.
SY   Classic citrullinemia.
DR   MIM; 215700; phenotype.
DR   MedGen; C0175683.
DR   MeSH; D020159.
//
ID   Citrullinemia 2.
AC   DI-00310
AR   CTLN2.
DE   A form of citrullinemia, an autosomal recessive disease characterized
DE   primarily by elevated serum and urine citrulline levels. Ammonia
DE   intoxication is another manifestation. Citrullinemia type 2 is
DE   characterized by neuropsychiatric symptoms including abnormal
DE   behaviors, loss of memory, seizures and coma. Death can result from
DE   brain edema. Onset is sudden and usually between the ages of 20 and 50
DE   years.
SY   Adult-onset citrullinemia type 2.
SY   Citrin deficiency.
SY   Citrullinemia type II.
DR   MIM; 603471; phenotype.
DR   MedGen; C1863844.
DR   MeSH; D056806.
//
ID   CK syndrome.
AC   DI-03007
AR   CKS.
DE   An X-linked recessive disorder characterized by mild to severe
DE   cognitive impairment, seizures, microcephaly, cerebral cortical
DE   malformations, dysmorphic facial features, and thin body habitus.
DR   MIM; 300831; phenotype.
DR   MedGen; C3151781.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   CLAPO syndrome.
AC   DI-05367
AR   CLAPO.
DE   A syndrome characterized by capillary malformation of the lower lip,
DE   lymphatic malformation of the face and neck, asymmetry of face and
DE   limbs and partial or generalised overgrowth.
SY   Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth.
SY   Lopez-Gutierrez syndrome.
DR   MIM; 613089; phenotype.
DR   MedGen; C2751313.
DR   MeSH; D000015.
//
ID   Clark-Baraitser syndrome.
AC   DI-05132
AR   CLABARS.
DE   An autosomal dominant disease characterized by intellectual
DE   disability, delayed psychomotor development, behavioral abnormalities,
DE   variable dysmorphic facial features, tall stature, obesity, and
DE   macrocephaly.
SY   MRD49.
DR   MIM; 617752; phenotype.
DR   MedGen; CN593636.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cleft palate isolated.
AC   DI-01837
AR   CPI.
DE   A congenital fissure of the soft and/or hard palate, due to faulty
DE   fusion. Isolated cleft palate is not associated with cleft lips. Some
DE   patients may manifest other craniofacial dysmorphic features,
DE   intellectual disability, and osteoporosis.
SY   CP.
DR   MIM; 119540; phenotype.
DR   MedGen; C0008925.
DR   MedGen; C1837218.
DR   MedGen; C1970095.
DR   MeSH; D002972.
//
ID   Cleft palate with or without ankyloglossia, X-linked.
AC   DI-02436
AR   CPX.
DE   A congenital mouth abnormality characterized by fissure of the soft
DE   and/or hard palate, due to faulty fusion. Some patients also manifest
DE   ankyloglossia, a condition in which movements of the tongue are
DE   restricted. Complete ankyloglossia is due to fusion between the tongue
DE   and the floor of the mouth. Partial ankyloglossia is due to a short
DE   lingual frenum or one which is attached too near the tip of the
DE   tongue.
SY   X-linked cleft palate with ankyloglossia.
DR   MIM; 303400; phenotype.
DR   MedGen; C1844830.
DR   MedGen; C1844831.
DR   MeSH; D002972.
//
ID   Cleft palate, cardiac defects, and impaired intellectual development.
AC   DI-05007
AR   CPCMR.
DE   An autosomal dominant disease characterized by multiple congenital
DE   malformations, mild-to-severe intellectual disability with poor
DE   speech, and delayed psychomotor development. Congenital malformations
DE   include heart defects, cleft lip/palate, distally-placed thumbs and
DE   toes, and cutaneous syndactyly between the second and third toes.
SY   Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies.
DR   MIM; 600987; phenotype.
DR   MedGen; C1832950.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Cleft palate, proliferative retinopathy, and developmental delay.
AC   DI-05947
AR   CPPRDD.
DE   An autosomal recessive disorder characterized by mild to severe
DE   intellectual disability with delayed or absent speech, hypotonia,
DE   cleft palate, proliferative retinopathy, and combined sensorineural
DE   and conductive hearing loss. Brain imaging shows ventriculomegaly,
DE   widened subarachnoid spaces, partial agenesis of the corpus callosum,
DE   hypoplastic cerebellar vermis, and Dandy Walker malformation.
DR   MIM; 619074; phenotype.
DR   MedGen; CN293411.
DR   MeSH; D002972.
KW   KW-0991:Intellectual disability.
//
ID   Cleft palate, psychomotor retardation, and distinctive facial features.
AC   DI-04622
AR   CPRF.
DE   A syndrome characterized by cleft palate, developmental delay,
DE   psychomotor retardation, and facial dysmorphic features including a
DE   prominent forehead, slightly arched eyebrows, elongated palpebral
DE   fissures, a wide nasal bridge, thin lips, and widely spaced teeth.
DE   Cleft palate is a congenital fissure of the soft and/or hard palate,
DE   due to faulty fusion.
DR   MIM; 616728; phenotype.
DR   MedGen; CN234733.
DR   MeSH; D002972.
//
ID   Cleidocranial dysplasia 1.
AC   DI-01353
AR   CLCD1.
DE   A form of cleidocranial dysplasia, a rare skeletal disorder with
DE   significant clinical variability, even within families. Patients
DE   typically present with delayed closure of cranial sutures and
DE   fontanels with multiple Wormian bones, retarded ossification of the
DE   skull, shortening of the distal phalanges, dental anomalies including
DE   supernumerary teeth and eruption failure, clavicular hypoplasia or
DE   aplasia, wide pubic symphysis, vertebral anomalies, and short stature.
DE   CLCD1 inheritance is autosomal dominant.
SY   CCD.
SY   CLCD.
SY   Cleidocranial dysostosis.
DR   MIM; 119600; phenotype.
DR   MedGen; C0008928.
DR   MedGen; C1838416.
DR   MedGen; C1861516.
DR   MeSH; D002973.
KW   KW-0242:Dwarfism.
//
ID   Cleidocranial dysplasia 2.
AC   DI-06534
AR   CLCD2.
DE   A form of cleidocranial dysplasia, a rare skeletal disorder with
DE   significant clinical variability, even within families. Patients
DE   typically present with delayed closure of cranial sutures and
DE   fontanels with multiple Wormian bones, retarded ossification of the
DE   skull, shortening of the distal phalanges, dental anomalies including
DE   supernumerary teeth and eruption failure, clavicular hypoplasia or
DE   aplasia, wide pubic symphysis, vertebral anomalies, and short stature.
DE   Craniofacial features are subtle and characterized by prominent
DE   parietal and frontal bones, widely spaced eyes, depressed nasal bridge
DE   and small maxilla. Some CLCD2 patients present mild to moderate
DE   developmental delay. CLCD2 inheritance is autosomal dominant.
DR   MIM; 620099; phenotype.
DR   MedGen; CN322350.
DR   MeSH; D002973.
KW   KW-0242:Dwarfism.
//
ID   Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly.
AC   DI-01396
AR   CCF.
DE   A congenital limb deformity defined as fixation of the foot in cavus,
DE   adductus, varus, and equinus (i.e., inclined inwards, axially rotated
DE   outwards, and pointing downwards) with concomitant soft tissue
DE   abnormalities. Clubfoot may occur in isolation or as part of a
DE   syndrome. Some patients present tibial hemimelia, bilateral patellar
DE   hypoplasia, and preaxial mirror-image polydactyly.
SY   Talipes equinovarus.
SY   TEV.
DR   MIM; 119800; phenotype.
DR   MedGen; C0009081.
DR   MeSH; D003025.
//
ID   COACH syndrome 1.
AC   DI-02835
AR   COACH1.
DE   A form of COACH syndrome, a disorder characterized by cerebellar
DE   vermis hypoplasia, developmental delay, impaired intellectual
DE   development, ataxia, and hepatic fibrosis. Patients present the molar
DE   tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE   Joubert syndrome and related disorders. Other features, such as
DE   coloboma and renal cysts, may be variable. COACH1 inheritance is
DE   autosomal recessive.
SY   Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis.
SY   COACH syndrome.
SY   Joubert syndrome with congenital hepatic fibrosis.
DR   MIM; 216360; phenotype.
DR   MedGen; C1857662.
DR   MeSH; D001259.
DR   MeSH; D002526.
DR   MeSH; D003103.
DR   MeSH; D008107.
KW   KW-0979:Joubert syndrome.
KW   KW-1186:Ciliopathy.
//
ID   COACH syndrome 2.
AC   DI-05978
AR   COACH2.
DE   A form of COACH syndrome, a disorder characterized by cerebellar
DE   vermis hypoplasia, developmental delay, impaired intellectual
DE   development, ataxia, and hepatic fibrosis. Patients present the molar
DE   tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE   Joubert syndrome and related disorders. Other features, such as
DE   coloboma and renal cysts, may be variable. COACH2 inheritance is
DE   autosomal recessive.
DR   MIM; 619111; phenotype.
DR   MedGen; CN293566.
DR   MeSH; D001259.
DR   MeSH; D002526.
DR   MeSH; D003103.
DR   MeSH; D008107.
KW   KW-0979:Joubert syndrome.
KW   KW-1186:Ciliopathy.
//
ID   COACH syndrome 3.
AC   DI-05979
AR   COACH3.
DE   A form of COACH syndrome, a disorder characterized by cerebellar
DE   vermis hypoplasia, developmental delay, impaired intellectual
DE   development, ataxia, and hepatic fibrosis. Patients present the molar
DE   tooth sign, a midbrain-hindbrain malformation pathognomonic for
DE   Joubert syndrome and related disorders. Other features, such as
DE   coloboma and renal cysts, may be variable. COACH3 inheritance is
DE   autosomal recessive.
DR   MIM; 619113; phenotype.
DR   MedGen; CN293567.
DR   MeSH; D001259.
DR   MeSH; D002526.
DR   MeSH; D003103.
DR   MeSH; D008107.
KW   KW-0979:Joubert syndrome.
KW   KW-1186:Ciliopathy.
//
ID   Cockayne syndrome A.
AC   DI-00311
AR   CSA.
DE   A rare disorder characterized by cutaneous sensitivity to sunlight,
DE   abnormal and slow growth, cachectic dwarfism, progeroid appearance,
DE   progressive pigmentary retinopathy and sensorineural deafness. There
DE   is delayed neural development and severe progressive neurologic
DE   degeneration resulting in intellectual disability. Two clinical forms
DE   are recognized: in the classical form or Cockayne syndrome type 1, the
DE   symptoms are progressive and typically become apparent within the
DE   first few years or life; the less common Cockayne syndrome type 2 is
DE   characterized by more severe symptoms that manifest prenatally.
DE   Cockayne syndrome shows some overlap with certain forms of xeroderma
DE   pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne
DE   syndrome do not manifest increased freckling and other pigmentation
DE   abnormalities in the skin and have no significant increase in skin
DE   cancer.
SY   CKN1.
DR   MIM; 216400; phenotype.
DR   MedGen; C0751039.
DR   MeSH; D003057.
KW   KW-0172:Cockayne syndrome.
//
ID   Cockayne syndrome B.
AC   DI-00312
AR   CSB.
DE   A rare disorder characterized by cutaneous sensitivity to sunlight,
DE   abnormal and slow growth, cachectic dwarfism, progeroid appearance,
DE   progressive pigmentary retinopathy and sensorineural deafness. There
DE   is delayed neural development and severe progressive neurologic
DE   degeneration resulting in intellectual disability. Two clinical forms
DE   are recognized: in the classical form or Cockayne syndrome type 1, the
DE   symptoms are progressive and typically become apparent within the
DE   first few years or life; the less common Cockayne syndrome type 2 is
DE   characterized by more severe symptoms that manifest prenatally.
DE   Cockayne syndrome shows some overlap with certain forms of xeroderma
DE   pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne
DE   syndrome do not manifest increased freckling and other pigmentation
DE   abnormalities in the skin and have no significant increase in skin
DE   cancer.
SY   CKN2.
DR   MIM; 133540; phenotype.
DR   MedGen; C0751038.
DR   MeSH; D003057.
KW   KW-0172:Cockayne syndrome.
//
ID   Cocoon syndrome.
AC   DI-02978
AR   COCOS.
DE   A lethal syndrome characterized by multiple fetal malformations
DE   including defective face and seemingly absent limbs, which are bound
DE   to the trunk and encased under the skin.
SY   Fetal encasement syndrome.
DR   MIM; 613630; phenotype.
DR   MedGen; C3150891.
DR   MeSH; D005315.
//
ID   CODAS syndrome.
AC   DI-04347
AR   CODASS.
DE   A rare syndrome characterized by the combination of cerebral, ocular,
DE   dental, auricular, and skeletal features. These include developmental
DE   delay, craniofacial anomalies, cataracts, ptosis, median nasal groove,
DE   delayed tooth eruption, hearing loss, short stature, delayed
DE   epiphyseal ossification, metaphyseal hip dysplasia, and vertebral
DE   coronal clefts.
SY   Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome.
DR   MIM; 600373; phenotype.
DR   MedGen; C1838180.
DR   MeSH; D005124.
DR   MeSH; D006130.
DR   MeSH; D006618.
DR   MeSH; D010009.
DR   MeSH; D014071.
DR   MeSH; D019465.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
//
ID   Coenzyme Q10 deficiency, primary, 1.
AC   DI-01354
AR   COQ10D1.
DE   An autosomal recessive disorder with variable manifestations
DE   consistent with 5 major phenotypes. The phenotypes include an
DE   encephalomyopathic form with seizures and ataxia; a multisystem
DE   infantile form with encephalopathy, cardiomyopathy and renal failure;
DE   a predominantly cerebellar form with ataxia and cerebellar atrophy;
DE   Leigh syndrome with growth retardation; and an isolated myopathic
DE   form.
SY   Coenzyme Q deficiency 1.
SY   CoQ deficiency 1.
SY   Primary CoQ10 deficiency 1.
SY   Ubiquinone deficiency 1.
DR   MIM; 607426; phenotype.
DR   MedGen; C1843920.
DR   MedGen; C3551954.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 2.
AC   DI-03446
AR   COQ10D2.
DE   An autosomal recessive multisystem disorder characterized by early-
DE   onset deafness, optic atrophy, mild intellectual disability,
DE   peripheral neuropathy, obesity, livedo reticularis, and cardiac
DE   valvulopathy.
DR   MIM; 614651; phenotype.
DR   MedGen; C3553354.
DR   MedGen; CN125025.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 3.
AC   DI-03447
AR   COQ10D3.
DE   A fatal encephalomyopathic form of coenzyme Q10 deficiency with
DE   nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive
DE   disorder with variable manifestations consistent with 5 major
DE   phenotypes. The phenotypes include an encephalomyopathic form with
DE   seizures and ataxia; a multisystem infantile form with encephalopathy,
DE   cardiomyopathy and renal failure; a predominantly cerebellar form with
DE   ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE   and an isolated myopathic form.
DR   MIM; 614652; phenotype.
DR   MedGen; C3553358.
DR   MedGen; CN125026.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 4.
AC   DI-01063
AR   COQ10D4.
DE   An autosomal recessive disorder characterized by childhood-onset of
DE   cerebellar ataxia and exercise intolerance. Patient manifest gait
DE   ataxia and cerebellar atrophy with slow progression. Additional
DE   features include brisk tendon reflexes and Hoffmann sign, variable
DE   psychomotor retardation and variable seizures.
SY   ARCA2.
SY   Autosomal recessive cerebellar ataxia type 2.
SY   SCAR9.
SY   Spinocerebellar ataxia autosomal recessive 9.
DR   MIM; 612016; phenotype.
DR   MedGen; C2677589.
DR   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 5.
AC   DI-03448
AR   COQ10D5.
DE   A form of coenzyme Q10 deficiency, an autosomal recessive disorder
DE   with variable manifestations consistent with 5 major phenotypes. The
DE   phenotypes include an encephalomyopathic form with seizures and
DE   ataxia; a multisystem infantile form with encephalopathy,
DE   cardiomyopathy and renal failure; a predominantly cerebellar form with
DE   ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE   and an isolated myopathic form.
DR   MIM; 614654; phenotype.
DR   MedGen; C3553374.
DR   MedGen; CN125027.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 6.
AC   DI-03445
AR   COQ10D6.
DE   An autosomal recessive disorder characterized by onset in infancy of
DE   severe progressive nephrotic syndrome resulting in end-stage renal
DE   failure and sensorineural deafness. Renal biopsy usually shows focal
DE   segmental glomerulosclerosis.
SY   SRNS with sensorineural deafness.
SY   Steroid-resistant nephrotic syndrome with sensorineural deafness.
DR   MIM; 614650; phenotype.
DR   MedGen; C3553349.
DR   MedGen; CN125024.
DR   MeSH; D006319.
DR   MeSH; D028361.
KW   KW-0209:Deafness.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 7.
AC   DI-04354
AR   COQ10D7.
DE   An autosomal recessive disorder resulting from mitochondrial
DE   dysfunction and characterized by decreased levels of coenzyme Q10, and
DE   severe cardiac or neurologic symptoms soon after birth, usually
DE   resulting in death. Rarely, symptoms may have later onset.
DR   MIM; 616276; phenotype.
DR   MedGen; CN228795.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 8.
AC   DI-04625
AR   COQ10D8.
DE   An autosomal recessive disorder resulting from mitochondrial
DE   dysfunction and characterized by decreased levels of coenzyme Q10.
DE   Patients manifest neonatal lung hypoplasia, contractures, early
DE   infantile hypertension and cardiac hypertrophy, secondary to prenatal
DE   kidney dysplasia, with neonatal and infantile renal dysfunction.
DE   Clinical features also include progressive peripheral neuropathy,
DE   muscular hypotonia and atrophy, and mild psychomotor delay with
DE   hearing and visual impairment.
DR   MIM; 616733; phenotype.
DR   MedGen; CN234873.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coenzyme Q10 deficiency, primary, 9.
AC   DI-05918
AR   COQ10D9.
DE   A form of coenzyme Q10 deficiency, an autosomal recessive disorder
DE   with variable manifestations consistent with 5 major phenotypes. The
DE   phenotypes include an encephalomyopathic form with seizures and
DE   ataxia; a multisystem infantile form with encephalopathy,
DE   cardiomyopathy and renal failure; a predominantly cerebellar form with
DE   ataxia and cerebellar atrophy; Leigh syndrome with growth retardation;
DE   and an isolated myopathic form. COQ10D9 patients show cerebellar
DE   ataxia with cerebellar atrophy. Additional features include
DE   generalized tonic-clonic seizures, and cognitive disability. Disease
DE   onset is in the first decade of life.
DR   MIM; 619028; phenotype.
DR   MedGen; CN283411.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Coffin-Lowry syndrome.
AC   DI-00313
AR   CLS.
DE   An X-linked disorder characterized by intellectual disability
DE   associated with facial and digital dysmorphisms, progressive skeletal
DE   malformations, growth retardation, hearing deficit and paroxysmal
DE   movement disorders.
DR   MIM; 303600; phenotype.
DR   MedGen; C0265252.
DR   MeSH; D038921.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 1.
AC   DI-04692
AR   CSS1.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported.
SY   Coffin-Siris syndrome.
SY   CSS.
SY   Fifth digit syndrome.
SY   HHID.
SY   MRD12.
DR   MIM; 135900; phenotype.
DR   MedGen; C0265338.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 11.
AC   DI-05763
AR   CSS11.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. CSS11 is an autosomal dominant form characterized by
DE   developmental delay, intellectual disability, hypotonia, feeding
DE   difficulties, and small hands and feet.
DR   MIM; 618779; phenotype.
DR   MedGen; CN263286.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 12.
AC   DI-06109
AR   CSS12.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. CSS12 is an autosomal dominant form characterized by global
DE   developmental delay with variably impaired intellectual development,
DE   speech and language delay, and behavioral abnormalities, such as
DE   autism or hyperactivity. Most CSS12 patients do not have the classic
DE   hypoplastic fifth digit/nail abnormalities that are often observed in
DE   other forms the disease.
DR   MIM; 619325; phenotype.
DR   MedGen; CN296800.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 2.
AC   DI-03453
AR   CSS2.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported.
SY   MRD14.
DR   MIM; 614607; phenotype.
DR   MedGen; C3553247.
DR   MedGen; CN123922.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 3.
AC   DI-03454
AR   CSS3.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported.
SY   MRD15.
DR   MIM; 614608; phenotype.
DR   MedGen; C3553248.
DR   MedGen; CN123923.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 4.
AC   DI-03455
AR   CSS4.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported.
SY   MRD16.
DR   MIM; 614609; phenotype.
DR   MedGen; C3553249.
DR   MedGen; CN123924.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 5.
AC   DI-04718
AR   CSS5.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported.
DR   MIM; 616938; phenotype.
DR   MedGen; CN236417.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 6.
AC   DI-05158
AR   CSS6.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported. CSS6 inheritance is autosomal dominant.
DR   MIM; 617808; phenotype.
DR   MedGen; CN696018.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 7.
AC   DI-05275
AR   CSS7.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. Both autosomal dominant and autosomal recessive inheritance
DE   patterns have been reported. CSS7 inheritance is autosomal dominant.
DR   MIM; 618027; phenotype.
DR   MedGen; CN248780.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Coffin-Siris syndrome 8.
AC   DI-05497
AR   CSS8.
DE   A form of Coffin-Siris syndrome, a congenital multiple malformation
DE   syndrome with broad phenotypic and genetic variability. Cardinal
DE   features are intellectual disability, coarse facial features,
DE   hypertrichosis, and hypoplastic or absent fifth digit nails or
DE   phalanges. Additional features include malformations of the cardiac,
DE   gastrointestinal, genitourinary, and/or central nervous systems.
DE   Sucking/feeding difficulties, poor growth, ophthalmologic
DE   abnormalities, hearing impairment, and spinal anomalies are common
DE   findings. CSS8 patients manifest prominent speech impairment,
DE   hypotonia, feeding difficulties, behavioral abnormalities, and
DE   dysmorphic features such as hypertrichosis, thick eyebrows, thin upper
DE   lip vermilion, and upturned nose. CSS8 inheritance is autosomal
DE   dominant.
DR   MIM; 618362; phenotype.
DR   MedGen; CN258253.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cognitive impairment with or without cerebellar ataxia.
AC   DI-03296
AR   CIAT.
DE   A disorder characterized by markedly delayed cognitive and motor
DE   development, attention deficit disorder, and cerebellar ataxia.
DE   Features include bilateral esophoria, strabismatic amblyopia,
DE   unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait,
DE   dysmetria in the upper limbs and dysarthria, with normal strength,
DE   tone, and reflexes.
DR   MIM; 614306; phenotype.
DR   MedGen; C3280415.
DR   MeSH; D019954.
KW   KW-0991:Intellectual disability.
//
ID   Cohen syndrome.
AC   DI-00314
AR   COH1.
DE   A rare autosomal recessive disorder characterized by obesity,
DE   hypotonia, intellectual deficit, characteristic craniofacial
DE   dysmorphism and abnormalities of the hands and feet. Characteristic
DE   facial features include high-arched or wave-shaped eyelids, a short
DE   philtrum, thick hair and low hairline.
SY   CHS1.
SY   Hypotonia-obesity-prominent incisors.
SY   Pepper syndrome.
DR   MIM; 216550; phenotype.
DR   MedGen; C0265223.
DR   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D009123.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   Cohen-Gibson syndrome.
AC   DI-05034
AR   COGIS.
DE   An autosomal dominant overgrowth disorder characterized by accelerated
DE   osseous maturation, advanced bone age, skeletal abnormalities
DE   including flaring of the metaphyses of the long bones, large hands
DE   with long fingers and camptodactyly, scoliosis, cervical spine
DE   anomalies, dysmorphic facial features, and variable intellectual
DE   disability.
DR   MIM; 617561; phenotype.
DR   MedGen; CN314204.
DR   MeSH; D001847.
//
ID   Cole disease.
AC   DI-03946
AR   COLED.
DE   A rare autosomal dominant genodermatosis characterized by punctate
DE   keratoderma associated with irregularly shaped hypopigmented macules,
DE   which are typically found over the arms and legs but not the trunk or
DE   acral regions. Skin biopsies of palmoplantar lesions show
DE   hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented
DE   areas of skin, however, reveal a reduction in melanin content in
DE   keratinocytes but not in melanocytes, as well as hyperkeratosis and a
DE   normal number of melanocytes. Ultrastructurally, melanocytes show a
DE   disproportionately large number of melanosomes in the cytoplasm and
DE   dendrites, whereas keratinocytes show a paucity of these organelles,
DE   suggestive of impaired melanosome transfer. Some patients also exhibit
DE   calcinosis cutis or calcific tendinopathy.
DR   MIM; 615522; phenotype.
DR   MedGen; C3809781.
DR   MedGen; CN181445.
DR   MeSH; D007645.
DR   MeSH; D017496.
//
ID   Cole-Carpenter syndrome 1.
AC   DI-04383
AR   CLCRP1.
DE   A form of Cole-Carpenter syndrome, a disorder characterized by
DE   features of osteogenesis imperfecta such as bone deformities and
DE   severe bone fragility with frequent fractures, in association with
DE   craniosynostosis, ocular proptosis, hydrocephalus, growth failure and
DE   distinctive facial features. Craniofacial findings include marked
DE   frontal bossing, midface hypoplasia, and micrognathia. Despite the
DE   craniosynostosis and hydrocephalus, intellectual development is
DE   normal. CLCRP1 inheritance is autosomal dominant.
SY   Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.
DR   MIM; 112240; phenotype.
DR   MedGen; C1862178.
DR   MeSH; D003398.
DR   MeSH; D005124.
DR   MeSH; D006849.
DR   MeSH; D010013.
KW   KW-0989:Craniosynostosis.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Cole-Carpenter syndrome 2.
AC   DI-04384
AR   CLCRP2.
DE   A form of Cole-Carpenter syndrome, a disorder characterized by
DE   features of osteogenesis imperfecta such as bone deformities and
DE   severe bone fragility with frequent fractures, in association with
DE   craniosynostosis, ocular proptosis, hydrocephalus, growth failure and
DE   distinctive facial features. Craniofacial findings include marked
DE   frontal bossing, midface hypoplasia, and micrognathia. Despite the
DE   craniosynostosis and hydrocephalus, intellectual development is
DE   normal. CLCRP2 inheritance is autosomal recessive.
DR   MIM; 616294; phenotype.
DR   MedGen; CN229492.
DR   MeSH; D003398.
DR   MeSH; D005124.
DR   MeSH; D006849.
DR   MeSH; D010013.
KW   KW-0989:Craniosynostosis.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Coloboma of optic nerve.
AC   DI-01358
AR   COLON.
DE   An ocular defect that is due to malclosure of the fetal intraocular
DE   fissure affecting the optic nerve head. In some affected individuals,
DE   it appears as enlargement of the physiologic cup with severely
DE   affected eyes showing huge cavities at the site of the disk.
DR   MIM; 120430; phenotype.
DR   MedGen; C0155299.
DR   MedGen; C0393782.
DR   MeSH; D009901.
//
ID   Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome.
AC   DI-03465
AR   CHIME.
DE   An extremely rare autosomal recessive multisystem disorder clinically
DE   characterized by colobomas, congenital heart defects, migratory
DE   ichthyosiform dermatosis, intellectual disability, and ear anomalies
DE   including conductive hearing loss. Other clinical features include
DE   distinctive facial features, abnormal growth, genitourinary
DE   abnormalities, seizures, and feeding difficulties.
SY   CHIME syndrome.
SY   Glycosylphosphatidylinositol biosynthesis defect 5.
SY   GPIBD5.
SY   Zunich neuroectodermal syndrome.
DR   MIM; 280000; phenotype.
DR   MedGen; C1848392.
DR   MeSH; D003103.
DR   MeSH; D006314.
DR   MeSH; D006331.
DR   MeSH; D007057.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0977:Ichthyosis.
KW   KW-0991:Intellectual disability.
//
ID   Coloboma, ocular, autosomal dominant.
AC   DI-02083
AR   COAD.
DE   A set of malformations resulting from abnormal morphogenesis of the
DE   optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure). The clinical presentation is variable. Some individuals may
DE   present with minimal defects in the anterior iris leaf without other
DE   ocular defects. More complex malformations create a combination of
DE   iris, uveoretinal and/or optic nerve defects without or with
DE   microphthalmia or even anophthalmia.
SY   COI.
SY   Coloboma of iris, choroid, and retina.
SY   Ocular coloboma.
SY   Uveoretinal coloboma.
DR   MIM; 120200; phenotype.
DR   MedGen; C0009363.
DR   MeSH; D003103.
//
ID   Coloboma, ocular, autosomal recessive.
AC   DI-04214
AR   COAR.
DE   An ocular anomaly resulting from abnormal morphogenesis of the optic
DE   cup and stalk, and incomplete fusion of the fetal intra-ocular fissure
DE   during gestation. The clinical presentation is variable. Some
DE   individuals may present with minimal defects in the anterior iris leaf
DE   without other ocular defects. More complex malformations create a
DE   combination of iris, uveoretinal and/or optic nerve defects without or
DE   with microphthalmia or even anophthalmia.
DR   MIM; 216820; phenotype.
DR   MedGen; CN074221.
DR   MeSH; D003103.
//
ID   Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development.
AC   DI-04066
AR   COB1.
DE   An autosomal dominant disease characterized by uveal colobomata,
DE   microphthalmia, cataract and cleft lip/palate. Considerable
DE   variability is observed among patients, uveal colobomata being the
DE   most constant feature. Some patients manifest intellectual disability
DE   of varying degree and/or sensorineural, mid-frequency hearing loss.
DR   MIM; 120433; phenotype.
DR   MedGen; C1852750.
DR   MeSH; D002971.
DR   MeSH; D002972.
DR   MeSH; D003103.
DR   MeSH; D008607.
DR   MeSH; D034381.
//
ID   Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.
AC   DI-04925
AR   COMMAD.
DE   An autosomal recessive syndrome characterized by severe
DE   microphthalmia, profound congenital sensorineural hearing loss, lack
DE   of pigment in the hair, skin, and eyes, macrocephaly, facial
DE   dysmorphism, and osteopetrosis.
SY   COMMAD syndrome.
DR   MIM; 617306; phenotype.
DR   MedGen; CN240351.
DR   MeSH; D000015.
KW   KW-0015:Albinism.
KW   KW-0209:Deafness.
KW   KW-0987:Osteopetrosis.
KW   KW-1013:Microphthalmia.
//
ID   Colorblindness, partial, deutan series.
AC   DI-02144
AR   CBD.
DE   A color vision defect characterized by a dichromasy in which red and
DE   green are confused, without loss of luminance or shift or shortening
DE   of the spectrum. Dichromasy is due to the use of only two types of
DE   photoreceptors, blue plus red in deuteranopia and blue plus green in
DE   protanopia.
SY   DCB.
SY   Deutan colorblindness.
SY   Deuteranopia.
SY   Green colorblindness.
DR   MIM; 303800; phenotype.
DR   MedGen; C0155016.
DR   MeSH; D003117.
//
ID   Colorblindness, partial, protan series.
AC   DI-02145
AR   CBP.
DE   A color vision defect characterized by a dichromasy in which red and
DE   green are confused, with loss of luminance and shift of brightness and
DE   hue curves toward the short wave end of the spectrum. Dichromasy is
DE   due to the use of only two types of photoreceptors, blue plus red in
DE   deuteranopia and blue plus green in protanopia.
SY   Protanopia.
SY   Red colorblindness.
DR   MIM; 303900; phenotype.
DR   MedGen; C0155015.
DR   MeSH; D003117.
//
ID   Colorectal cancer.
AC   DI-01359
AR   CRC.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history.
SY   Colon cancer.
DR   MIM; 114500; phenotype.
DR   MedGen; C0009402.
DR   MedGen; C0699790.
DR   MedGen; C1527249.
DR   MeSH; D015179.
//
ID   Colorectal cancer 1.
AC   DI-02924
AR   CRCS1.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history.
SY   Susceptibility to colorectal adenoma and cancer.
SY   Susceptibility to colorectal cancer on chromosome 9.
DR   MIM; 608812; phenotype.
DR   MedGen; C1837315.
DR   MeSH; D015179.
//
ID   Colorectal cancer 10.
AC   DI-03661
AR   CRCS10.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history.
SY   Susceptibility to colorectal cancer on chromosome 19q.
DR   MIM; 612591; phenotype.
DR   MedGen; C2675481.
DR   MeSH; D015179.
//
ID   Colorectal cancer 12.
AC   DI-03648
AR   CRCS12.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history. CRCS12 is characterized by a
DE   high-penetrance predisposition to the development of colorectal
DE   adenomas and carcinomas, with a variable tendency to develop multiple
DE   and large tumors. Onset is usually before age 40 years. The histologic
DE   features of the tumors are unremarkable.
SY   Susceptibility to colorectal cancer on chromosome 12q24.
DR   MIM; 615083; phenotype.
DR   MedGen; C3554460.
DR   MedGen; CN165699.
DR   MeSH; D015179.
//
ID   Colorectal cancer 3.
AC   DI-02891
AR   CRCS3.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history.
SY   Susceptibility to colorectal cancer on chromosome 18.
DR   MIM; 612229; phenotype.
DR   MedGen; C2677123.
DR   MeSH; D015179.
//
ID   Colorectal cancer 4.
AC   DI-03479
AR   CRCS4.
DE   A complex disease characterized by malignant lesions arising from the
DE   inner wall of the large intestine (the colon) and the rectum. Genetic
DE   alterations are often associated with progression from premalignant
DE   lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer
DE   of the colon and rectum include colon polyps, long-standing ulcerative
DE   colitis, and genetic family history.
SY   Susceptibility to colorectal cancer on chromosome 15.
DR   MIM; 601228; phenotype.
DR   MedGen; C2677290.
DR   MedGen; C2677291.
DR   MeSH; D015179.
//
ID   Combined cellular and humoral immune defects with granulomas.
AC   DI-01360
AR   CHIDG.
DE   Immunodeficiency disease with granulomas in the skin, mucous
DE   membranes, and internal organs. Other characteristics include
DE   hypogammaglobulinemia, a diminished number of T and B-cells, and
DE   sparse thymic tissue on ultrasonography.
DR   MIM; 233650; phenotype.
DR   MedGen; C2673536.
//
ID   Combined D-2- and L-2-hydroxyglutaric aciduria.
AC   DI-03710
AR   D2L2AD.
DE   An autosomal recessive neurometabolic disorder characterized by
DE   neonatal-onset encephalopathy with severe muscular weakness,
DE   intractable seizures, respiratory distress, and lack of psychomotor
DE   development resulting in early death. Brain imaging shows
DE   abnormalities including enlarged ventricles, delayed myelination, and
DE   germinal layer cysts.
DR   MIM; 615182; phenotype.
DR   MedGen; C2746066.
DR   MeSH; D020739.
//
ID   Combined deficiency of vitamin K-dependent clotting factors 1.
AC   DI-01361
AR   VKCFD1.
DE   VKCFD leads to a bleeding tendency that is usually reversed by oral
DE   administration of vitamin K.
SY   MCFD3.
SY   Multiple coagulation factor deficiency III.
DR   MIM; 277450; phenotype.
DR   MedGen; C1848534.
//
ID   Combined deficiency of vitamin K-dependent clotting factors 2.
AC   DI-01362
AR   VKCFD2.
DE   VKCFD leads to a bleeding tendency that is usually reversed by oral
DE   administration of vitamin K.
DR   MIM; 607473; phenotype.
DR   MedGen; C1843832.
//
ID   Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.
AC   DI-05147
AR   CIMAH.
DE   An autosomal recessive disorder due to an inborn error of folate
DE   metabolism. Variable clinical manifestations include hemolytic uremic
DE   syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild
DE   intellectual disability, and lymphopenia.
DR   MIM; 617780; phenotype.
DR   MedGen; CN635903.
DR   MeSH; D008661.
//
ID   Combined lipase deficiency.
AC   DI-01363
AR   CLD.
DE   Characterized by repeated episodes of pancreatitis, tuberous xanthomas
DE   and lipodystrophy and is caused by deficiency of both lipoprotein
DE   lipase (LPL) and hepatic triglyceride lipase (HTGL).
DR   MIM; 246650; phenotype.
DR   MedGen; C1855498.
//
ID   Combined low LDL and fibrinogen.
AC   DI-06676
AR   CLDLFIB.
DE   An autosomal recessive condition characterized by low plasma LDL-
DE   cholesterol and fibrinogen levels, and associated with a decreased
DE   risk of coronary artery disease.
DR   MIM; 620364; phenotype.
DR   MedGen; CN327138.
DR   MeSH; D008661.
//
ID   Combined malonic and methylmalonic aciduria.
AC   DI-03246
AR   CMAMMA.
DE   A metabolic disease characterized by malonic and methylmalonic
DE   aciduria, with urinary excretion of much larger amounts of
DE   methylmalonic acid than malonic acid, in the presence of normal
DE   malonyl-CoA decarboxylase activity. Clinical features include coma,
DE   ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia,
DE   axial hypotonia and/or developmental delay, and neurologic
DE   manifestations including seizures, psychiatric disease and/or
DE   cognitive decline.
DR   MIM; 614265; phenotype.
DR   MedGen; C3280314.
DR   MeSH; D008052.
//
ID   Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1.
AC   DI-05986
AR   OIEDS1.
DE   An autosomal dominant connective tissue disorder characterized by
DE   osteopenia, bone fragility, long bone fractures, blue sclerae, joint
DE   hyperextensibility, soft and hyperextensible skin, abnormal wound
DE   healing, easy bruising, and vascular fragility.
DR   MIM; 619115; phenotype.
DR   MedGen; CN248508.
DR   MeSH; D004535.
DR   MeSH; D010013.
KW   KW-0248:Ehlers-Danlos syndrome.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2.
AC   DI-05987
AR   OIEDS2.
DE   An autosomal dominant connective tissue disorder characterized by
DE   osteopenia, bone fragility, long bone fractures, blue sclerae, joint
DE   hyperextensibility, soft and hyperextensible skin, abnormal wound
DE   healing, easy bruising, and vascular fragility.
DR   MIM; 619120; phenotype.
DR   MedGen; CN293583.
DR   MeSH; D004535.
DR   MeSH; D010013.
KW   KW-0248:Ehlers-Danlos syndrome.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Combined oxidative phosphorylation deficiency 1.
AC   DI-01364
AR   COXPD1.
DE   A mitochondrial disease resulting in early rapidly progressive
DE   hepatoencephalopathy.
SY   Hepatoencephalopathy early fatal progressive.
DR   MIM; 609060; phenotype.
DR   MedGen; C1836797.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 10.
AC   DI-03492
AR   COXPD10.
DE   An autosomal recessive disorder resulting in variable defects of
DE   mitochondrial oxidative respiration. Affected individuals present in
DE   infancy with hypertrophic cardiomyopathy and lactic acidosis. The
DE   severity is variable, but can be fatal in the most severe cases.
SY   Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis.
DR   MIM; 614702; phenotype.
DR   MedGen; C3553529.
DR   MedGen; CN130361.
DR   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 11.
AC   DI-03566
AR   COXPD11.
DE   A severe, multisystemic, autosomal recessive, disorder characterized
DE   by deficiencies of multiple mitochondrial respiratory enzymes leading
DE   to neonatal hypotonia and lactic acidosis. Affected individuals may
DE   have respiratory insufficiency, foot deformities, or seizures.
SY   Infantile encephaloneuromyopathy due to mitochondrial translation defect.
DR   MIM; 614922; phenotype.
DR   MedGen; C3554067.
DR   MedGen; CN160490.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 12.
AC   DI-03612
AR   COXPD12.
DE   An autosomal recessive, mitochondrial, neurologic disorder
DE   characterized by onset in infancy of hypotonia and delayed psychomotor
DE   development, or early developmental regression, associated with T2-
DE   weighted hyperintensities in the deep cerebral white matter,
DE   brainstem, and cerebellar white matter. Serum lactate is increased due
DE   to a defect in mitochondrial respiration. There are 2 main phenotypic
DE   groups: those with a milder disease course and some recovery of skills
DE   after age 2 years, and those with a severe disease course resulting in
DE   marked disability.
SY   Leukoencephalopathy with thalamus and brainstem involvement and high lactate.
SY   LTBL.
DR   MIM; 614924; phenotype.
DR   MedGen; C3554079.
DR   MedGen; CN160606.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 13.
AC   DI-03613
AR   COXPD13.
DE   A mitochondrial disorder characterized by early onset severe
DE   encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias
DE   and combined mitochondrial respiratory chain deficiency. Nerve
DE   conductions velocities are decreased. Levels of plasma and
DE   cerebrospinal fluid lactate are increased.
DR   MIM; 614932; phenotype.
DR   MedGen; C3554129.
DR   MedGen; CN160614.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 14.
AC   DI-03630
AR   COXPD14.
DE   A severe multisystemic autosomal recessive disorder characterized by
DE   neonatal onset of global developmental delay, refractory seizures, and
DE   lactic acidosis. Biochemical studies show deficiencies of multiple
DE   mitochondrial respiratory enzymes.
DR   MIM; 614946; phenotype.
DR   MedGen; C3554168.
DR   MedGen; CN162964.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 15.
AC   DI-03631
AR   COXPD15.
DE   An autosomal recessive, mitochondrial, neurologic disorder
DE   characterized by features of Leigh syndrome and combined oxidative
DE   phosphorylation deficiency. Clinical features include mild global
DE   developmental delay, white matter abnormalities, ataxia,
DE   incoordination, speech and reading difficulties, T2-weighted
DE   hyperintensities in the basal ganglia, corpus callosum, and brainstem.
DR   MIM; 614947; phenotype.
DR   MedGen; C3554182.
DR   MedGen; CN162965.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 16.
AC   DI-03874
AR   COXPD16.
DE   An autosomal recessive, mitochondrial disorder characterized by
DE   hypertrophic cardiomyopathy, liver steatosis, and decreased levels of
DE   mitochondrial complexes I and IV in heart and skeletal muscle.
DR   MIM; 615395; phenotype.
DR   MedGen; C3809339.
DR   MedGen; CN179856.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 17.
AC   DI-03913
AR   COXPD17.
DE   An autosomal recessive disorder of mitochondrial dysfunction
DE   characterized by onset of severe hypertrophic cardiomyopathy in the
DE   first year of life. Other features include hypotonia, poor growth,
DE   lactic acidosis, and failure to thrive. The disorder may be fatal in
DE   early childhood.
DR   MIM; 615440; phenotype.
DR   MedGen; C3809526.
DR   MedGen; CN180184.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 18.
AC   DI-03996
AR   COXPD18.
DE   An autosomal recessive disorder of mitochondrial dysfunction
DE   characterized by intrauterine growth retardation, hypotonia, visual
DE   impairment, speech delay, and lactic acidosis associated with
DE   decreased mitochondrial respiratory chain activity. Affected patients
DE   may also show hematologic abnormalities, mainly macrocytic anemia.
DR   MIM; 615578; phenotype.
DR   MedGen; C3810001.
DR   MedGen; CN182925.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 19.
AC   DI-04002
AR   COXPD19.
DE   A mitochondrial disorder characterized by respiratory distress,
DE   hypotonia, and severe lactic acidosis in the newborn period. Other
DE   features include gastroesophageal reflux and elevated liver enzymes
DE   with normal synthetic function.
DR   MIM; 615595; phenotype.
DR   MedGen; C3810055.
DR   MedGen; CN183092.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 2.
AC   DI-01365
AR   COXPD2.
DE   A mitochondrial disease resulting in fatal neonatal metabolic acidosis
DE   with agenesis of the corpus callosum.
SY   Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis.
DR   MIM; 610498; phenotype.
DR   MedGen; C1864843.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 20.
AC   DI-04181
AR   COXPD20.
DE   A disorder due to mitochondrial respiratory chain complex defects.
DE   Clinical features are variable and include muscle weakness with
DE   hypotonia, central neurological disease with progressive external
DE   ophthalmoplegia, ptosis and ataxia, delayed psychomotor development,
DE   cardiomyopathy, abnormal liver function, facial dysmorphism,
DE   microcephaly and epilepsy.
DR   MIM; 615917; phenotype.
DR   MedGen; CN219640.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 21.
AC   DI-04173
AR   COXPD21.
DE   A mitochondrial disorder characterized by a lethal encephalomyopathy.
DE   Shortly after birth, affected individuals manifest axial hypotonia,
DE   limb hypertonia, psychomotor delay, and increased serum lactate.
DE   Additional features include subsarcolemmal lipofuscin-positive
DE   deposits in muscle, cerebral spongiosis, and hepatic steatosis.
DR   MIM; 615918; phenotype.
DR   MedGen; CN197314.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 22.
AC   DI-04243
AR   COXPD22.
DE   A mitochondrial disorder characterized by intrauterine growth
DE   retardation, microcephaly, hypotonia, pulmonary hypertension, failure
DE   to thrive, encephalopathy, and heart failure.
DR   MIM; 616045; phenotype.
DR   MedGen; CN220052.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 23.
AC   DI-04332
AR   COXPD23.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   hypertrophic cardiomyopathy and/or neurologic symptoms with onset in
DE   early childhood. Disease features include hypertrophic cardiomyopathy,
DE   hypotonia, delayed psychomotor development, lactic acidosis, impaired
DE   activities of respiratory complexes I and IV, and defective
DE   translation of mitochondrial proteins. Disease severity is variable,
DE   ranging from death in early infancy to survival into the second decade
DE   of life.
DR   MIM; 616198; phenotype.
DR   MedGen; CN225702.
DR   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 24.
AC   DI-04330
AR   COXPD24.
DE   An autosomal recessive mitochondrial disorder with wide phenotypic
DE   variability. Some patients have a milder form affecting only skeletal
DE   muscle, whereas others may have a more severe disorder, reminiscent of
DE   Alpers syndrome. Alpers syndrome is a progressive neurodegenerative
DE   disorder that presents in infancy or early childhood and is
DE   characterized by diffuse degeneration of cerebral gray matter.
DR   MIM; 616239; phenotype.
DR   MedGen; CN227915.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 25.
AC   DI-04460
AR   COXPD25.
DE   A mitochondrial disorder resulting in developmental delay, growth
DE   failure, and sensorineural hearing loss.
DR   MIM; 616430; phenotype.
DR   MedGen; CN231322.
DR   MeSH; D028361.
KW   KW-0209:Deafness.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 27.
AC   DI-04592
AR   COXPD27.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   multiple mitochondrial respiratory-chain-complex deficiencies causing
DE   neurological regression, progressive cognitive decline, complex
DE   movement disorder, epileptic encephalopathy, progressive spastic
DE   tetraparesis, and progressive impairment of vision and hearing.
DR   MIM; 616672; phenotype.
DR   MedGen; CN233359.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 28.
AC   DI-04643
AR   COXPD28.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   decreased activities of respiratory chain enzymes, and variable
DE   clinical manifestations. Clinical features include episodic metabolic
DE   decompensation beginning in infancy, mild muscle weakness,
DE   cardiorespiratory insufficiency, developmental delay, or even death.
DR   MIM; 616794; phenotype.
DR   MedGen; CN235181.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 29.
AC   DI-04649
AR   COXPD29.
DE   An autosomal recessive, infantile-onset, neurodegenerative disorder
DE   characterized by decreased activities of mitochondrial respiratory
DE   complexes I and III, severe cerebellar atrophy, epilepsy, dystonia,
DE   optic atrophy, and peripheral neuropathy.
DR   MIM; 616811; phenotype.
DR   MedGen; CN235186.
DR   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 3.
AC   DI-01366
AR   COXPD3.
DE   A mitochondrial disease resulting in severe metabolic acidosis with
DE   encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a
DE   severe defect in mitochondrial translation leading to a failure to
DE   assemble adequate amounts of three of the oxidative phosphorylation
DE   complexes.
SY   Concentric cardiomyopathy hypotonia and lactic acidosis.
SY   Encephalomyopathy respiratory failure and lactic acidosis.
DR   MIM; 610505; phenotype.
DR   MedGen; C1864840.
DR   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 30.
AC   DI-04745
AR   COXPD30.
DE   An autosomal recessive, severe mitochondrial disease characterized by
DE   lactic acidosis, hypotonia, feeding difficulties, deafness, and
DE   respiratory failure with fatal issue. Patient skeletal muscle cells
DE   show decreased activities of mitochondrial complexes I, III and IV.
DR   MIM; 616974; phenotype.
DR   MedGen; CN236787.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 31.
AC   DI-04916
AR   COXPD31.
DE   An autosomal recessive, severe mitochondrial disease with
DE   multisystemic manifestations appearing soon after birth or in early
DE   infancy. Clinical features include left ventricular non-compaction,
DE   global developmental delay, severe hypotonia, seizures, cataract, and
DE   abnormal movements. Death may occur in early childhood.
DR   MIM; 617228; phenotype.
DR   MedGen; CN239489.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 32.
AC   DI-05097
AR   COXPD32.
DE   An autosomal recessive disorder due to deficiency of mitochondrial
DE   respiratory chain complexes, I, III and IV, and characterized by
DE   delayed psychomotor development and neurodevelopmental regression.
DE   Additional variable symptoms include poor or absent speech, inability
DE   to walk, and abnormal movements.
DR   MIM; 617664; phenotype.
DR   MedGen; CN469327.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 33.
AC   DI-05115
AR   COXPD33.
DE   An autosomal recessive disorder caused by multiple mitochondrial
DE   respiratory chain defects and impaired mitochondrial energy
DE   metabolism. Clinical manifestations are highly variable. Affected
DE   infants present with cardiomyopathy accompanied by multisystemic
DE   features involving liver, kidney, and brain. Death in infancy is
DE   observed in some patients. Children and adults present with myopathy
DE   and progressive external ophthalmoplegia.
DR   MIM; 617713; phenotype.
DR   MedGen; CN533576.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 34.
AC   DI-05192
AR   COXPD34.
DE   An autosomal recessive disorder caused by mitochondrial dysfunction
DE   and combined respiratory chain deficiencies of complexes I, III and
DE   IV. Clinical manifestations are variable and include congenital
DE   sensorineural deafness, lactic acidemia, and progressive hepatic and
DE   renal failure.
DR   MIM; 617872; phenotype.
DR   MedGen; CN807947.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 35.
AC   DI-05193
AR   COXPD35.
DE   An autosomal recessive disorder caused by defective mitochondrial
DE   metabolism and deficiencies of mitochondrial respiratory enzyme
DE   complexes. Clinical manifestations include global developmental delay,
DE   intellectual disability, microcephaly, and early-onset seizures.
DR   MIM; 617873; phenotype.
DR   MedGen; CN807948.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 36.
AC   DI-05238
AR   COXPD36.
DE   An autosomal recessive, multisystem disease resulting from
DE   deficiencies of mitochondrial respiratory enzyme complexes and
DE   mitochondrial dysfunction. Clinical manifestations include
DE   sensorineural hearing impairment, mild developmental delay,
DE   hypoglycemia, and intellectual disability.
DR   MIM; 617950; phenotype.
DR   MedGen; CN244569.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 37.
AC   DI-05483
AR   COXPD37.
DE   An autosomal recessive disorder due to mitochondrial dysfunction and
DE   characterized by hypotonia, failure to thrive, progressive
DE   neurodegeneration with neurologic deterioration after the first months
DE   of life, global developmental delay, as well as liver dysfunction.
DE   Some patients may have hypertrophic cardiomyopathy, loss of vision and
DE   hearing, and/or seizures. Death in first months or years of life is
DE   observed in most patients.
DR   MIM; 618329; phenotype.
DR   MedGen; CN258215.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 38.
AC   DI-05529
AR   COXPD38.
DE   An autosomal recessive disorder due to mitochondrial dysfunction and
DE   characterized by perinatal hypertrophic cardiomyopathy, growth
DE   retardation, muscle hypotonia, elevated lactate, dysmorphy and
DE   intellectual disability.
DR   MIM; 618378; phenotype.
DR   MedGen; CN258275.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 39.
AC   DI-05530
AR   COXPD39.
DE   An autosomal recessive disorder due to mitochondrial dysfunction and
DE   characterized by global developmental delay, axial hypotonia,
DE   dystonia, dysarthria, impaired intellectual development with poor
DE   speech, and deficiencies of the mitochondrial respiratory chain enzyme
DE   complexes. Neuroimaging shows abnormalities in the putamen and caudate
DE   nuclei, along with subcortical white matter involvement.
DR   MIM; 618397; phenotype.
DR   MedGen; CN258295.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 4.
AC   DI-01367
AR   COXPD4.
DE   A mitochondrial disease resulting in neonatal lactic acidosis, rapidly
DE   progressive encephalopathy, severely decreased mitochondrial protein
DE   synthesis, and combined deficiency of mtDNA-related mitochondrial
DE   respiratory chain complexes.
DR   MIM; 610678; phenotype.
DR   MedGen; C1857682.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 40.
AC   DI-05808
AR   COXPD40.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   prenatal or infantile onset, fetal hydrops, severe hypertrophic
DE   cardiomyopathy, poor growth, sensorineural hearing loss, hepatic
DE   dysfunction, lactic acidosis, and decreased activities of
DE   mitochondrial respiratory complexes I, III, IV, and V. The disorder is
DE   lethal, with death occurring in infancy.
DR   MIM; 618835; phenotype.
DR   MedGen; CN272920.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 41.
AC   DI-05809
AR   COXPD41.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   prenatal onset, fetal hydrops, intrauterine growth retardation,
DE   hypertrophic cardiomyopathy, respiratory insufficiency, lactic
DE   acidosis, and decreased activities of mitochondrial respiratory
DE   complexes I, III, IV, and V. The disorder is lethal, with death
DE   occurring in the perinatal period.
DR   MIM; 618838; phenotype.
DR   MedGen; CN272921.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 42.
AC   DI-05810
AR   COXPD42.
DE   An autosomal recessive mitochondrial disorder characterized by onset
DE   in the first months of life, cardiomyopathy, respiratory
DE   insufficiency, lactic acidosis, anemia, and variable impairment of
DE   mitochondrial respiratory complexes I, III, and IV. Death occurs in
DE   infancy.
DR   MIM; 618839; phenotype.
DR   MedGen; CN272922.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 43.
AC   DI-05811
AR   COXPD43.
DE   An autosomal recessive mitochondrial disorder characterized by onset
DE   at birth, intrauterine growth retardation, hypotonia, myopathy,
DE   feeding difficulties associated with gastroesophageal reflux, and
DE   persistently elevated serum lactate and creatine kinase. Brain imaging
DE   shows delayed myelination. Muscle biopsy shows decreased activities of
DE   mitochondrial respiratory chain complexes I, III, and IV.
DR   MIM; 618851; phenotype.
DR   MedGen; CN280853.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 44.
AC   DI-05822
AR   COXPD44.
DE   An autosomal recessive mitochondrial disorder characterized by onset
DE   in infancy or early childhood of global developmental delay,
DE   hypotonia, and abnormal movements. Combined oxidative phosphorylation
DE   deficiency is present in skeletal muscle. Most patients have seizures
DE   associated with status epilepticus. Additional variable features
DE   include optic atrophy, hypertrophic cardiomyopathy, stroke-like
DE   episodes, and increased lactate levels in serum and cerebrospinal
DE   fluid.
DR   MIM; 618855; phenotype.
DR   MedGen; CN280867.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 45.
AC   DI-05877
AR   COXPD45.
DE   An autosomal recessive mitochondrial disorder with onset in utero and
DE   characterized by poor overall growth, failure to thrive, global
DE   developmental delay, poor or absent speech, seizures, hypotonia, loss
DE   of walking, acute progressive neurologic deterioration, brain lesions,
DE   and facial dysmorphism. Laboratory studies show increased serum
DE   lactate and decreased mitochondrial respiratory chain enzyme activity
DE   in patient tissues.
DR   MIM; 618951; phenotype.
DR   MedGen; CN283297.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 46.
AC   DI-05878
AR   COXPD46.
DE   An autosomal recessive disorder characterized by childhood-onset
DE   mitochondrial respiratory chain complex deficiencies, particularly
DE   complexes I and IV, and hepatic disease.
DR   MIM; 618952; phenotype.
DR   MedGen; CN283298.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 47.
AC   DI-05882
AR   COXPD47.
DE   An autosomal recessive, multisystemic, mitochondrial disorder
DE   characterized by intrauterine growth retardation, swallowing
DE   difficulties with failure to thrive, hypoglycemia, dehydration, and
DE   hepatomegaly. Additional features include global developmental delay
DE   with impaired intellectual development and absent speech,
DE   microcephaly, facial dysmorphism, cataract, sensorineural deafness,
DE   skeletal features, and cryptorchidism. Laboratory studies show
DE   metabolic acidosis, increased serum lactate, and variably impaired
DE   activity of mitochondrial respiratory complexes I, III, IV, and V in
DE   different tissues.
DR   MIM; 618958; phenotype.
DR   MedGen; CN283299.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 48.
AC   DI-05913
AR   COXPD48.
DE   An autosomal recessive, mitochondrial encephalomyopathy characterized
DE   by global developmental delay, microcephaly, failure to thrive,
DE   hypotonia, muscle weakness, external ophthalmoplegia, and seizures.
DE   Laboratory studies show metabolic acidosis, increased serum lactate,
DE   and combined oxidative phosphorylation deficiency in skeletal muscle.
DR   MIM; 619012; phenotype.
DR   MedGen; CN283360.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 49.
AC   DI-05914
AR   COXPD49.
DE   An autosomal recessive, mitochondrial myopathy characterized by
DE   progressive muscle weakness, intermittent muscle pain, exercise
DE   intolerance, elevated serum creatine kinase, and deficiencies of
DE   multiple respiratory chain enzymes.
DR   MIM; 619024; phenotype.
DR   MedGen; CN283408.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 5.
AC   DI-01368
AR   COXPD5.
DE   A mitochondrial disease resulting in severe metabolic acidosis, edema,
DE   hypertrophic cardiomyopathy, tubulopathy, and hypotonia.
DR   MIM; 611719; phenotype.
DR   MedGen; C2673642.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 50.
AC   DI-05915
AR   COXPD50.
DE   An autosomal recessive, mitochondrial encephalomyopathy characterized
DE   by intrauterine growth retardation, poor overall growth, delayed
DE   psychomotor development, hypotonia, muscle weakness, progressive loss
DE   of ambulation, and mitochondrial oxidative phosphorylation deficiency
DE   in patient tissues. Brain imaging shows partial agenesis of the corpus
DE   callosum.
DR   MIM; 619025; phenotype.
DR   MedGen; CN283409.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 51.
AC   DI-05943
AR   COXPD51.
DE   An autosomal recessive, mitochondrial disorder characterized by
DE   intrauterine growth retardation, low birth weight, poor overall
DE   growth, progressive limb rigidity, delayed psychomotor development,
DE   hearing loss, and optic atrophy. Brain imaging shows abnormal
DE   bilateral signs at the basal ganglia and brainstem. Patient cells show
DE   decreased mitochondrial complex I and IV levels and activities, and
DE   generalized mitochondrial translation defects.
DR   MIM; 619057; phenotype.
DR   MedGen; CN293374.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 52.
AC   DI-06148
AR   COXPD52.
DE   An autosomal recessive mitochondrial disorder with onset in infancy,
DE   characterized by lactic acidemia, hypotonia, respiratory chain complex
DE   II and III deficiency, multisystem organ failure and abnormal
DE   mitochondria.
DR   MIM; 619386; phenotype.
DR   MedGen; CN297342.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 53.
AC   DI-06163
AR   COXPD53.
DE   An autosomal recessive mitochondrial disorder characterized by global
DE   developmental delay, hypomyelination, cerebral atrophy, microcephaly,
DE   liver dysfunction, and recurrent autoinflammation.
SY   Elbracht-Isikay syndrome.
SY   Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation.
DR   MIM; 619423; phenotype.
DR   MedGen; CN299635.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 54.
AC   DI-06332
AR   COXPD54.
DE   An autosomal recessive, multisystem disorder with highly variable
DE   manifestations resulting from defective mitochondrial transcription
DE   and translation. Clinical features include early-onset sensorineural
DE   hearing loss, sometimes associated with global developmental delay or
DE   primary ovarian failure, peripheral hypertonia, seizures, muscle
DE   weakness, behavioral abnormalities, and leukoencephalopathy on brain
DE   imaging. Serum lactate may or may not be elevated.
DR   MIM; 619737; phenotype.
DR   MedGen; CN306409.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 55.
AC   DI-06333
AR   COXPD55.
DE   A mitochondrial disease characterized by global developmental delay,
DE   hypotonia, short stature, and impaired intellectual development with
DE   speech disabilities in childhood. Indolent progressive external
DE   ophthalmoplegia may be present in some patients. COXPD55 transmission
DE   pattern is consistent with autosomal dominant inheritance in some
DE   families, and with autosomal recessive inheritance in others.
DR   MIM; 619743; phenotype.
DR   MedGen; CN306435.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 56.
AC   DI-06553
AR   COXPD56.
DE   An autosomal recessive mitochondrial disease characterized by lethargy
DE   at birth, hypotonia, developmental delay, myopathy, and ptosis.
DR   MIM; 620139; phenotype.
DR   MedGen; CN322492.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 57.
AC   DI-06577
AR   COXPD57.
DE   An autosomal recessive mitochondrial disease characterized by
DE   multisystemic features including encephalopathy, neurodevelopmental
DE   regression, ocular anomalies, decreased vision, auditory neuropathy,
DE   sensorineural hearing loss, and cardiac defects. Disease severity is
DE   variable, ranging from premature death in infancy to permanent
DE   disability in young adulthood.
DR   MIM; 620167; phenotype.
DR   MedGen; CN322762.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 58.
AC   DI-06725
AR   COXPD58.
DE   An autosomal recessive mitochondrial disease manifesting in the first
DE   5 years of life and characterized by a wide range of clinical
DE   presentations. Clinical features include neonatal lactic acidosis,
DE   epileptic encephalopathy, developmental delay and impaired
DE   intellectual development with non-specific brain abnormalities, or
DE   mitochondrial myopathy with a treatable neuromuscular transmission
DE   defect.
DR   MIM; 620451; phenotype.
DR   MedGen; CN372447.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 6.
AC   DI-02854
AR   COXPD6.
DE   A mitochondrial disease resulting in a neurodegenerative disorder
DE   characterized by psychomotor delay, hypotonia, areflexia, muscle
DE   weakness and wasting. Some patients manifest prenatal ventriculomegaly
DE   and severe postnatal encephalomyopathy.
SY   Encephalomyopathy mitochondrial X-linked.
DR   MIM; 300816; phenotype.
DR   MedGen; C3151753.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 7.
AC   DI-02900
AR   COXPD7.
DE   A mitochondrial disease resulting in encephalomyopathy. Clinical
DE   manifestations include psychomotor delay and regression, ataxia, optic
DE   atrophy, nystagmus and muscle atrophy and weakness.
DR   MIM; 613559; phenotype.
DR   MedGen; C3150801.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 8.
AC   DI-03184
AR   COXPD8.
DE   A mitochondrial disease characterized by a lethal infantile
DE   hypertrophic cardiomyopathy, generalized muscle dysfunction and some
DE   neurologic involvement. The liver is not affected.
SY   Cardiomyopathy hypertrophic mitochondrial fatal infantile.
DR   MIM; 614096; phenotype.
DR   MedGen; C3279793.
DR   MeSH; D002312.
DR   MeSH; D017240.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined oxidative phosphorylation deficiency 9.
AC   DI-03428
AR   COXPD9.
DE   A mitochondrial disease characterized by failure to thrive, poor
DE   feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor
DE   retardation. Death in infancy has been observed in some cases.
DR   MIM; 614582; phenotype.
DR   MedGen; C3281234.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Combined saposin deficiency.
AC   DI-01370
AR   PSAPD.
DE   An autosomal recessive storage disorder characterized by
DE   hepatosplenomegaly and severe neurologic disease, due to absence of
DE   all saposins. PSAPD has a fatal outcome in infancy.
SY   Combined SAP deficiency.
SY   Prosaposin deficiency.
DR   MIM; 611721; phenotype.
DR   MedGen; C2673635.
DR   MeSH; D020739.
//
ID   Complement component 2 deficiency.
AC   DI-01306
AR   C2D.
DE   A rare defect of the complement classical pathway associated with the
DE   development of autoimmune disorders, mainly systemic lupus
DE   erythematosus. Skin and joint manifestations are common and renal
DE   disease is relatively rare. Patients with complement component 2
DE   deficiency are also reported to have recurrent invasive infections.
SY   C2 deficiency.
DR   MIM; 217000; phenotype.
DR   MedGen; C3150275.
DR   MeSH; D007105.
//
ID   Complement component 3 deficiency.
AC   DI-01307
AR   C3D.
DE   A rare defect of the complement classical pathway. Patients develop
DE   recurrent, severe, pyogenic infections because of ineffective
DE   opsonization of pathogens. Some patients may also develop autoimmune
DE   disorders, such as arthralgia and vasculitic rashes, lupus-like
DE   syndrome and membranoproliferative glomerulonephritis.
SY   C3 deficiency autosomal recessive.
SY   Complement component 3 deficiency autosomal recessive.
DR   MIM; 613779; phenotype.
DR   MedGen; C3151071.
DR   MeSH; D007154.
//
ID   Complement component 4A deficiency.
AC   DI-01308
AR   C4AD.
DE   A rare defect of the complement classical pathway associated with the
DE   development of autoimmune disorders, mainly systemic lupus with or
DE   without associated glomerulonephritis.
SY   C4A deficiency.
DR   MIM; 614380; phenotype.
DR   MedGen; C3280642.
DR   MeSH; D007105.
//
ID   Complement component 4B deficiency.
AC   DI-03321
AR   C4BD.
DE   A rare defect of the complement classical pathway associated with the
DE   development of autoimmune disorders, mainly systemic lupus with or
DE   without associated glomerulonephritis.
SY   C4B deficiency.
DR   MIM; 614379; phenotype.
DR   MedGen; C3280641.
DR   MeSH; D007105.
//
ID   Complement component 5 deficiency.
AC   DI-01372
AR   C5D.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections, predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis.
SY   C5 deficiency.
DR   MIM; 609536; phenotype.
DR   MedGen; C0343047.
DR   MeSH; D007154.
//
ID   Complement component 6 deficiency.
AC   DI-01375
AR   C6D.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections, predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis.
SY   C6 deficiency.
SY   C6 deficiency subtotal.
SY   Complement component 6 deficiency subtotal.
DR   MIM; 612446; phenotype.
DR   MedGen; C2676232.
DR   MedGen; C2676233.
DR   MeSH; D007154.
//
ID   Complement component 7 deficiency.
AC   DI-01382
AR   C7D.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections, predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis.
SY   C7 deficiency.
DR   MIM; 610102; phenotype.
DR   MedGen; C1864694.
DR   MeSH; D007154.
//
ID   Complement component 8 deficiency, 1.
AC   DI-01373
AR   C8D1.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections, predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis.
SY   C8 alpha-gamma deficiency.
SY   C8 deficiency type I.
SY   Complement component 8 deficiency type I.
DR   MIM; 613790; phenotype.
DR   MedGen; C3151081.
DR   MeSH; D007154.
//
ID   Complement component 8 deficiency, 2.
AC   DI-01374
AR   C8D2.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections, predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis.
SY   C8 beta deficiency.
SY   C8 deficiency type II.
SY   Complement C8B deficiency.
SY   Complement component 8 deficiency type II.
DR   MIM; 613789; phenotype.
DR   MedGen; C3151080.
DR   MeSH; D007154.
//
ID   Complement component 9 deficiency.
AC   DI-01383
AR   C9D.
DE   A rare defect of the complement classical pathway associated with
DE   susceptibility to severe recurrent infections predominantly by
DE   Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may
DE   develop dermatomyositis.
SY   C9 deficiency.
SY   C9 deficiency with dermatomyositis.
DR   MIM; 613825; phenotype.
DR   MedGen; C3151189.
DR   MeSH; D007154.
//
ID   Complement component C1s deficiency.
AC   DI-02293
AR   C1SD.
DE   A rare defect resulting in C1 deficiency and impaired activation of
DE   the complement classical pathway. C1 deficiency generally leads to
DE   severe immune complex disease with features of systemic lupus
DE   erythematosus and glomerulonephritis.
SY   C1s deficiency.
DR   MIM; 613783; phenotype.
DR   MedGen; C0398755.
DR   MedGen; C3151078.
DR   MeSH; D007105.
//
ID   Complement factor B deficiency.
AC   DI-04018
AR   CFBD.
DE   An immunologic disorder characterized by increased susceptibility to
DE   bacterial infections, particularly Neisseria infections, due to a
DE   defect in the alternative complement pathway.
SY   Factor B deficiency.
DR   MIM; 615561; phenotype.
DR   MedGen; C3809950.
DR   MedGen; CN183732.
DR   MeSH; D007154.
//
ID   Complement factor D deficiency.
AC   DI-01376
AR   CFDD.
DE   An immunologic disorder characterized by increased susceptibility to
DE   bacterial infections, particularly Neisseria infections, due to a
DE   defect in the alternative complement pathway.
SY   Factor D deficiency.
DR   MIM; 613912; phenotype.
DR   MedGen; C0398764.
DR   MedGen; C1851396.
DR   MeSH; D007154.
//
ID   Complement factor H deficiency.
AC   DI-01377
AR   CFHD.
DE   A disorder that can manifest as several different phenotypes,
DE   including asymptomatic, recurrent bacterial infections, and renal
DE   failure. Laboratory features usually include decreased serum levels of
DE   factor H, complement component C3, and a decrease in other terminal
DE   complement components, indicating activation of the alternative
DE   complement pathway. It is associated with a number of renal diseases
DE   with variable clinical presentation and progression, including
DE   membranoproliferative glomerulonephritis and atypical hemolytic uremic
DE   syndrome.
SY   CFH deficiency.
SY   Factor H deficiency.
DR   MIM; 609814; phenotype.
DR   MedGen; C0398777.
DR   MedGen; C1969214.
DR   MedGen; C1969215.
DR   MedGen; C1969216.
DR   MeSH; D007154.
//
ID   Complement factor I deficiency.
AC   DI-01378
AR   CFI deficiency.
DE   Autosomal recessive condition associated with a propensity to pyogenic
DE   infections.
DR   MIM; 610984; phenotype.
DR   MedGen; C3463916.
//
ID   Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.
AC   DI-05079
AR   CHAPLE.
DE   An autosomal recessive disease characterized by abdominal pain and
DE   diarrhea, primary intestinal lymphangiectasia, edema due to
DE   hypoproteinemia, malabsorption, and less frequently, bowel
DE   inflammation, recurrent infections, and angiopathic thromboembolic
DE   disease. Patients' T lymphocytes show increased complement activation
DE   causing surface deposition of complement and the generation of soluble
DE   C5a.
DR   MIM; 226300; phenotype.
DR   MedGen; C0033680.
DR   MeSH; D011504.
DR   MeSH; D013927.
//
ID   Cone dystrophy 3.
AC   DI-00317
AR   COD3.
DE   An autosomal dominant cone dystrophy. Cone dystrophies are retinal
DE   dystrophies characterized by progressive degeneration of the cone
DE   photoreceptors with preservation of rod function, as indicated by
DE   electroretinogram. However, some rod involvement may be present in
DE   some cone dystrophies, particularly at late stage. Affected
DE   individuals suffer from photophobia, loss of visual acuity, color
DE   vision and central visual field. Another sign is the absence of
DE   macular lesions for many years. Cone dystrophies are distinguished
DE   from the cone-rod dystrophies in which some loss of peripheral vision
DE   also occurs.
DR   MIM; 602093; phenotype.
DR   MedGen; C1865869.
DR   MeSH; D058499.
//
ID   Cone dystrophy 4.
AC   DI-02491
AR   COD4.
DE   An early-onset cone dystrophy. Cone dystrophies are retinal
DE   dystrophies characterized by progressive degeneration of the cone
DE   photoreceptors with preservation of rod function, as indicated by
DE   electroretinogram. However, some rod involvement may be present in
DE   some cone dystrophies, particularly at late stage. Affected
DE   individuals suffer from photophobia, loss of visual acuity, color
DE   vision and central visual field. Another sign is the absence of
DE   macular lesions for many years. Cone dystrophies are distinguished
DE   from the cone-rod dystrophies in which some loss of peripheral vision
DE   also occurs.
DR   MIM; 613093; phenotype.
DR   MedGen; C2751308.
DR   MeSH; D058499.
//
ID   Cone dystrophy 5.
AC   DI-02905
AR   COD5.
DE   An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies
DE   characterized by progressive degeneration of the cone photoreceptors
DE   with preservation of rod function, as indicated by electroretinogram.
DE   However, some rod involvement may be present in some cone dystrophies,
DE   particularly at late stage. Affected individuals suffer from
DE   photophobia, loss of visual acuity, color vision and central visual
DE   field. Another sign is the absence of macular lesions for many years.
DE   Cone dystrophies are distinguished from the cone-rod dystrophies in
DE   which some loss of peripheral vision also occurs.
SY   Cone dystrophy 5 X-linked.
DR   MIM; 303700; phenotype.
DR   MedGen; CN069543.
DR   MeSH; D058499.
//
ID   Cone dystrophy retinal 3B.
AC   DI-00316
AR   RCD3B.
DE   A rare form of cone dystrophy associated with supernormal rod
DE   responses. The disorder is characterized by reduced visual acuity,
DE   photoaversion, night blindness, and abnormal color vision. At an early
DE   age, the retina shows subtle depigmentation at the macula and, later,
DE   more obvious areas of atrophy.
SY   Cone dystrophy with night blindness and supernormal rod responses KCNV2-related.
SY   Cone dystrophy with supernormal rod electroretinogram.
DR   MIM; 610356; phenotype.
DR   MedGen; C1835897.
DR   MeSH; D058499.
//
ID   Cone dystrophy, retinal 3A.
AC   DI-00315
AR   RCD3A.
DE   A rare form of cone dystrophy associated with supernormal rod
DE   responses. The disorder is characterized by reduced visual acuity,
DE   photoaversion, night blindness, and abnormal color vision. At an early
DE   age, the retina shows subtle depigmentation at the macula and, later,
DE   more obvious areas of atrophy.
SY   Cone dystrophy with night blindness and supernormal rod responses.
SY   Cone dystrophy with supernormal rod electroretinogram.
DR   MIM; 610024; phenotype.
DR   MedGen; C1864900.
DR   MedGen; C3552227.
DR   MeSH; D058499.
//
ID   Cone-rod dystrophy 10.
AC   DI-00324
AR   CORD10.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 610283; phenotype.
DR   MedGen; C1846529.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 11.
AC   DI-00325
AR   CORD11.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 610381; phenotype.
DR   MedGen; C1835865.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 12.
AC   DI-00326
AR   CORD12.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 612657; phenotype.
DR   MedGen; C2675210.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 13.
AC   DI-00323
AR   CORD13.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 608194; phenotype.
DR   MedGen; C2750720.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 14.
AC   DI-05820
AR   CORD14.
DE   An autosomal dominant form of cone-rod dystrophy, a retinal disease
DE   characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
DR   MIM; 602093; phenotype.
DR   MedGen; C1865869.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 15.
AC   DI-02944
AR   CORD15.
DE   An autosomal recessive retinal dystrophy characterized by retinal
DE   pigment deposits visible on fundus examination, predominantly in the
DE   macular region, and initial loss of cone photoreceptors followed by
DE   rod degeneration. This leads to decreased visual acuity and
DE   sensitivity in the central visual field, followed by loss of
DE   peripheral vision. Severe loss of vision occurs earlier than in
DE   retinitis pigmentosa, due to cone photoreceptors degenerating at a
DE   higher rate than rod photoreceptors.
DR   MIM; 613660; phenotype.
DR   MedGen; C3150912.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 16.
AC   DI-03355
AR   CORD16.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
SY   Retinal dystrophy with early macular involvement.
DR   MIM; 614500; phenotype.
DR   MedGen; C3281045.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 18.
AC   DI-03861
AR   CORD18.
DE   A form of cone-rod dystrophy, an inherited retinal dystrophy
DE   characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
DR   MIM; 615374; phenotype.
DR   MedGen; C3809299.
DR   MedGen; CN178852.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 19.
AC   DI-04129
AR   CORD19.
DE   A form of cone-rod dystrophy, an inherited retinal dystrophy
DE   characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
DR   MIM; 615860; phenotype.
DR   MedGen; CN189125.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 2.
AC   DI-00318
AR   CORD2.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
SY   Cone-rod retinal dystrophy 2.
SY   CRD2.
DR   MIM; 120970; phenotype.
DR   MedGen; C3489532.
DR   MedGen; CN074280.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 20.
AC   DI-04189
AR   CORD20.
DE   A form of cone-rod dystrophy, an inherited retinal dystrophy
DE   characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
DR   MIM; 615973; phenotype.
DR   MedGen; CN219005.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 21.
AC   DI-04505
AR   CORD21.
DE   A form of cone-rod dystrophy, an inherited retinal dystrophy
DE   characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
SY   Retinal dystrophy with early macular involvement.
DR   MIM; 616502; phenotype.
DR   MedGen; CN231743.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 22.
AC   DI-06228
AR   CORD22.
DE   An autosomal recessive form of cone-rod dystrophy, an inherited
DE   retinal dystrophy characterized by retinal pigment deposits visible on
DE   fundus examination, predominantly in the macular region, and initial
DE   loss of cone photoreceptors followed by rod degeneration. This leads
DE   to decreased visual acuity and sensitivity in the central visual
DE   field, followed by loss of peripheral vision. Severe loss of vision
DE   occurs earlier than in retinitis pigmentosa, due to cone
DE   photoreceptors degenerating at a higher rate than rod photoreceptors.
DR   MIM; 619531; phenotype.
DR   MedGen; CN300475.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 23.
AC   DI-06596
AR   CORD23.
DE   An autosomal recessive form of cone-rod dystrophy, an inherited
DE   retinal dystrophy characterized by retinal pigment deposits visible on
DE   fundus examination, predominantly in the macular region, and initial
DE   loss of cone photoreceptors followed by rod degeneration. This leads
DE   to decreased visual acuity and sensitivity in the central visual
DE   field, followed by loss of peripheral vision. Severe loss of vision
DE   occurs earlier than in retinitis pigmentosa, due to cone
DE   photoreceptors degenerating at a higher rate than rod photoreceptors.
DR   MIM; 613428; phenotype.
DR   MedGen; C3150691.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 24.
AC   DI-06663
AR   CORD24.
DE   An autosomal dominant form of cone-rod dystrophy, an inherited retinal
DE   dystrophy characterized by retinal pigment deposits visible on fundus
DE   examination, predominantly in the macular region, and initial loss of
DE   cone photoreceptors followed by rod degeneration. This leads to
DE   decreased visual acuity and sensitivity in the central visual field,
DE   followed by loss of peripheral vision. Severe loss of vision occurs
DE   earlier than in retinitis pigmentosa, due to cone photoreceptors
DE   degenerating at a higher rate than rod photoreceptors.
DR   MIM; 620342; phenotype.
DR   MedGen; CN327019.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 3.
AC   DI-00319
AR   CORD3.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 604116; phenotype.
DR   MedGen; C1858806.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 5.
AC   DI-00320
AR   CORD5.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 600977; phenotype.
DR   MedGen; C1832976.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 6.
AC   DI-00321
AR   CORD6.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 601777; phenotype.
DR   MedGen; C1866293.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 7.
AC   DI-00322
AR   CORD7.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 603649; phenotype.
DR   MedGen; C1863634.
DR   MeSH; D000071700.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 9.
AC   DI-02490
AR   CORD9.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 612775; phenotype.
DR   MedGen; C1423873.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy and hearing loss 1.
AC   DI-04912
AR   CRDHL1.
DE   An autosomal recessive disease defined by the association of
DE   progressive cone-rod dystrophy with sensorineural hearing loss. Cone-
DE   rod dystrophy is characterized by retinal pigment deposits visible on
DE   fundus examination, predominantly in the macular region, and initial
DE   loss of cone photoreceptors followed by rod degeneration. This leads
DE   to decreased visual acuity and sensitivity in the central visual
DE   field, followed by loss of peripheral vision. Severe loss of vision
DE   occurs earlier than in retinitis pigmentosa, due to cone
DE   photoreceptors degenerating at a higher rate than rod photoreceptors.
DR   MIM; 617236; phenotype.
DR   MedGen; CN239548.
DR   MeSH; D054062.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0209:Deafness.
//
ID   Cone-rod dystrophy and hearing loss 2.
AC   DI-05510
AR   CRDHL2.
DE   An autosomal recessive disease defined by the association of
DE   progressive cone-rod dystrophy with sensorineural hearing loss. Cone-
DE   rod dystrophy is characterized by retinal pigment deposits visible on
DE   fundus examination, predominantly in the macular region, and initial
DE   loss of cone photoreceptors followed by rod degeneration. This leads
DE   to decreased visual acuity and sensitivity in the central visual
DE   field, followed by loss of peripheral vision. Severe loss of vision
DE   occurs earlier than in retinitis pigmentosa, due to cone
DE   photoreceptors degenerating at a higher rate than rod photoreceptors.
DR   MIM; 618358; phenotype.
DR   MedGen; CN258248.
DR   MeSH; D054062.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0209:Deafness.
//
ID   Cone-rod dystrophy, X-linked 1.
AC   DI-00327
AR   CORDX1.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa. In
DE   cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor
DE   involvement can be variable, with degeneration increasing as the
DE   disease progresses. Affected individuals (essentially all of whom are
DE   males) present with decreased visual acuity, myopia, photophobia,
DE   abnormal color vision, full peripheral visual fields, decreased
DE   photopic electroretinographic responses, and granularity of the
DE   macular retinal pigment epithelium. Although penetrance appears to be
DE   nearly 100%, there is variable expressivity with respect to age at
DE   onset and severity of symptoms.
SY   COD1.
SY   Cone dystrophy X-linked 1.
DR   MIM; 304020; phenotype.
DR   MedGen; C1844776.
DR   MedGen; C1844777.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy, X-linked 3.
AC   DI-00328
AR   CORDX3.
DE   An inherited retinal dystrophy characterized by retinal pigment
DE   deposits visible on fundus examination, predominantly in the macular
DE   region, and initial loss of cone photoreceptors followed by rod
DE   degeneration. This leads to decreased visual acuity and sensitivity in
DE   the central visual field, followed by loss of peripheral vision.
DE   Severe loss of vision occurs earlier than in retinitis pigmentosa, due
DE   to cone photoreceptors degenerating at a higher rate than rod
DE   photoreceptors.
DR   MIM; 300476; phenotype.
DR   MedGen; C1845407.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod synaptic disorder syndrome, congenital non-progressive.
AC   DI-05888
AR   CRSDS.
DE   An autosomal recessive disorder characterized by reduced visual
DE   acuity, photophobia, nystagmus, distinctive electroretinographic
DE   features, neurodevelopmental delay, poor or absent language, autistic
DE   behaviors, and abnormal glucose homeostasis.
DR   MIM; 618970; phenotype.
DR   MedGen; CN283300.
DR   MeSH; D014786.
DR   MeSH; D065886.
//
ID   Cone-rod synaptic disorder, congenital non-progressive.
AC   DI-00378
AR   CRSD.
DE   A non-progressive retinal disorder characterized by stable low vision,
DE   nystagmus, photophobia, a normal or near-normal fundus appearance, and
DE   no night blindness.
SY   CSNB2B.
SY   Incomplete autosomal recessive CSNB.
SY   Incomplete congenital stationary night blindness autosomal recessive.
SY   Night blindness, congenital stationary, 2B.
DR   MIM; 610427; phenotype.
DR   MedGen; C1864877.
DR   MeSH; D014786.
//
ID   Congenital afibrinogenemia.
AC   DI-01387
AR   CAFBN.
DE   Rare autosomal recessive disorder is characterized by bleeding that
DE   varies from mild to severe and by complete absence or extremely low
DE   levels of plasma and platelet fibrinogen.
DR   MIM; 202400; phenotype.
DR   MedGen; C1859970.
DR   MedGen; CN071205.
//
ID   Congenital anomalies of kidney and urinary tract 2.
AC   DI-04535
AR   CAKUT2.
DE   A disorder encompassing a broad spectrum of renal and urinary tract
DE   malformations that include renal agenesis, kidney hypodysplasia,
DE   multicystic kidney dysplasia, duplex collecting system, posterior
DE   urethral valves and ureter abnormalities. Congenital anomalies of
DE   kidney and urinary tract are the commonest cause of chronic kidney
DE   disease in children.
SY   Hydronephrosis due to PUJO.
SY   MCRD.
SY   Multicystic renal dysplasia, bilateral.
SY   Pelviureteric junction obstruction.
SY   PUJO.
SY   UPJO.
SY   Ureteropelvic junction obstruction.
DR   MIM; 143400; phenotype.
DR   MedGen; C1840451.
DR   MeSH; D014564.
//
ID   Congenital anomalies of kidney and urinary tract 3.
AC   DI-05447
AR   CAKUT3.
DE   A disorder encompassing a broad spectrum of renal and urinary tract
DE   malformations that include renal agenesis, kidney hypodysplasia,
DE   multicystic kidney dysplasia, duplex collecting system, posterior
DE   urethral valves and ureter abnormalities. Congenital anomalies of
DE   kidney and urinary tract are the commonest cause of chronic kidney
DE   disease in children. CAKUT3 inheritance is autosomal dominant.
DR   MIM; 618270; phenotype.
DR   MedGen; CN258052.
DR   MeSH; D014564.
//
ID   Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.
AC   DI-05075
AR   CAKUTHED.
DE   An autosomal dominant disorder characterized by variable congenital
DE   anomalies of the kidney and urinary tract, sometimes resulting in
DE   renal dysfunction or failure, dysmorphic facial features, and
DE   abnormalities of the outer ear. Most patients have hearing loss, and
DE   some may have global developmental delay.
DR   MIM; 617641; phenotype.
DR   MedGen; CN417140.
DR   MeSH; D014564.
//
ID   Congenital anomalies of the kidney and urinary tract 1.
AC   DI-04107
AR   CAKUT1.
DE   A disorder encompassing a broad spectrum of renal and urinary tract
DE   malformations that include renal agenesis, kidney hypodysplasia,
DE   multicystic kidney dysplasia, duplex collecting system, posterior
DE   urethral valves and ureter abnormalities. Congenital anomalies of
DE   kidney and urinary tract are the commonest cause of chronic kidney
DE   disease in children.
SY   Non-syndromic renal hypodysplasia 1.
SY   Renal hypodysplasia, nonsyndromic, 1.
SY   RHDNS1.
DR   MIM; 610805; phenotype.
DR   MedGen; C1835826.
DR   MeSH; D014564.
//
ID   Congenital arthrogryposis with anterior horn cell disease.
AC   DI-00643
AR   CAAHD.
DE   An autosomal recessive disorder characterized by fetal akinesia,
DE   arthrogryposis and motor neuron loss. The fetus often survives
DE   delivery, but dies early as a result of respiratory failure.
DE   Neuropathological findings resemble those of lethal congenital
DE   contracture syndrome type 1, but are less severe.
SY   LAAHD.
SY   Lethal arthrogryposis with anterior horn cell disease.
DR   MIM; 611890; phenotype.
DR   MedGen; C2678471.
DR   MeSH; D001176.
DR   MeSH; D016472.
//
ID   Congenital bilateral absence of the vas deferens.
AC   DI-01389
AR   CBAVD.
DE   An autosomal recessive disease characterized by vas deferens aplasia
DE   resulting in azoospermia and male infertility. CBAVD may occur in
DE   isolation or as a manifestation of cystic fibrosis.
SY   CAVD.
DR   MIM; 277180; phenotype.
DR   MedGen; C0403814.
DR   MedGen; CN032726.
DR   MeSH; D052801.
//
ID   Congenital bilateral aplasia of the vas deferens, X-linked.
AC   DI-04817
AR   CBAVDX.
DE   A disease characterized by bilateral absence of vas deferens,
DE   obstructive azoospermia, and infertility.
DR   MIM; 300985; phenotype.
DR   MedGen; CN238523.
DR   MeSH; D052801.
//
ID   Congenital bile acid synthesis defect 1.
AC   DI-00329
AR   CBAS1.
DE   A primary defect in bile synthesis leading to progressive liver
DE   disease. Clinical features include neonatal jaundice, severe
DE   intrahepatic cholestasis, cirrhosis.
SY   3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency.
SY   Neonatal progressive intrahepatic cholestasis.
SY   PFIC4.
SY   Progressive familial intrahepatic cholestasis type 4.
DR   MIM; 607765; phenotype.
DR   MedGen; C1843116.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Congenital bile acid synthesis defect 2.
AC   DI-00330
AR   CBAS2.
DE   A condition characterized by jaundice, intrahepatic cholestasis and
DE   hepatic failure. Patients with this liver disease show absence or low
DE   levels of chenodeoxycholic acid and cholic acid in plasma and urine.
SY   Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency.
DR   MIM; 235555; phenotype.
DR   MedGen; C1856127.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Congenital bile acid synthesis defect 3.
AC   DI-00331
AR   CBAS3.
DE   A disorder resulting in severe cholestasis, cirrhosis and liver
DE   synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase
DE   activity is undetectable.
DR   MIM; 613812; phenotype.
DR   MedGen; C3151147.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Congenital bile acid synthesis defect 4.
AC   DI-00332
AR   CBAS4.
DE   A disorder characterized by the presence of trihydroxycoprostanic acid
DE   in the bile and absence of cholic acid. Patients manifest neonatal
DE   jaundice, intrahepatic cholestasis and bile duct deficiency.
SY   Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid.
SY   Trihydroxycoprostanic acid in bile.
DR   MIM; 214950; phenotype.
DR   MedGen; C1858328.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Congenital bile acid synthesis defect 5.
AC   DI-04360
AR   CBAS5.
DE   An autosomal recessive disorder characterized by hepatosplenomegaly,
DE   hepatic fibrosis, progressive liver failure, and accumulation of
DE   peroxisomal C27-bile acid intermediates in plasma.
DR   MIM; 616278; phenotype.
DR   MedGen; CN228775.
DR   MeSH; D008107.
//
ID   Congenital bile acid synthesis defect 6.
AC   DI-04924
AR   CBAS6.
DE   An inborn error of bile acid synthesis characterized by abnormally
DE   increased liver enzymes, hypolipidemia and low cholesterol, vitamin D
DE   deficiency, elevated plasma and urinary levels of C27 intermediate
DE   bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and
DE   3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum
DE   levels of phytanic and pristanic acids are normal. Clinical features
DE   include liver fibrosis, mild ataxia, delayed development, and
DE   cognitive impairment. Liver histology shows many thin fibrous septa,
DE   swollen hepatocytes, glycogenated nuclei, and focal acinar
DE   transformation, consistent with hepatocellular injury and
DE   regeneration, without signs of obvious cholestasis, cholate stasis, or
DE   steatosis. CBAS6 transmission pattern is consistent with autosomal
DE   recessive inheritance.
DR   MIM; 617308; phenotype.
DR   MedGen; CN240352.
DR   MeSH; D002780.
//
ID   Congenital cataracts, facial dysmorphism, and neuropathy.
AC   DI-01390
AR   CCFDN.
DE   An autosomal recessive developmental disorder characterized by a
DE   complex clinical phenotype with seemingly unrelated features involving
DE   multiple organs and systems. Developmental abnormalities include
DE   congenital cataracts and microcorneae, hypomyelination of the
DE   peripheral nervous system, impaired physical growth, delayed early
DE   motor and intellectual development, facial dysmorphism and
DE   hypogonadism. Central nervous system involvement, with cerebral and
DE   spinal cord atrophy, may be the result of disrupted development with
DE   superimposed degenerative changes. Affected individuals are prone to
DE   severe rhabdomyolysis after viral infections and to serious
DE   complications related to general anesthesia (such as pulmonary edema
DE   and epileptic seizures).
DR   MIM; 604168; phenotype.
DR   MedGen; C1858726.
DR   MeSH; D000015.
KW   KW-0622:Neuropathy.
KW   KW-0898:Cataract.
//
ID   Congenital contractures of the limbs and face, hypotonia, and developmental delay.
AC   DI-04355
AR   CLIFAHDD.
DE   A disease characterized by congenital contractures of the limbs and
DE   face, resulting in characteristic facial features, abnormal tone, most
DE   commonly manifested as hypotonia, and variable degrees of
DE   developmental delay.
DR   MIM; 616266; phenotype.
DR   MedGen; CN228594.
DR   MeSH; D001176.
//
ID   Congenital disorder of deglycosylation 1.
AC   DI-03774
AR   CDDG1.
DE   An autosomal recessive multisystem disorder characterized by
DE   developmental delay, hypotonia, abnormal involuntary movements and
DE   alacrima or poor tear production. Other features include microcephaly,
DE   intractable seizures, abnormal eye movements and evidence of liver
DE   dysfunction, probably due to cytoplasmic accumulation of storage
DE   material in vacuoles.
SY   CDDG.
SY   CDG1V.
SY   CDGIv.
SY   CDG Iv.
SY   CDG-Iv.
SY   Congenital disorder of deglycosylation.
SY   Congenital disorder of glycosylation 1V.
SY   Congenital disorder of glycosylation type Iv.
DR   MIM; 615273; phenotype.
DR   MedGen; C3808991.
DR   MedGen; CN176766.
DR   MeSH; D002239.
//
ID   Congenital disorder of deglycosylation 2.
AC   DI-06360
AR   CDDG2.
DE   An autosomal recessive disorder characterized by facial dysmorphism,
DE   congenital anomalies such as tongue hamartoma, variable degrees of
DE   intellectual disability, and brain anomalies including polymicrogyria,
DE   interhemispheric cysts, hypothalamic hamartoma, callosal anomalies,
DE   and hypoplasia of brainstem and cerebellar vermis.
DR   MIM; 619775; phenotype.
DR   MedGen; CN306959.
DR   MeSH; D002239.
//
ID   Congenital disorder of glycosylation 1A.
AC   DI-00333
AR   CDG1A.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1A is an autosomal recessive
DE   disorder characterized by a severe encephalopathy with axial
DE   hypotonia, abnormal eye movement, and pronounced psychomotor
DE   retardation, as well as peripheral neuropathy, cerebellar hypoplasia,
DE   and retinitis pigmentosa. Patients show a peculiar distribution of
DE   subcutaneous fat, nipple retraction, and hypogonadism.
SY   Carbohydrate-deficient glycoprotein syndrome type Ia.
SY   CDGIa.
SY   CDG Ia.
SY   CDG-Ia.
SY   CDGS1A.
SY   Congenital disorder of glycosylation type Ia.
SY   Jaeken's syndrome.
SY   Jaeken syndrome.
SY   Phosphomannomutase 2 deficiency.
SY   PMM2 deficiency.
DR   MIM; 212065; phenotype.
DR   MedGen; C0349653.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1AA.
AC   DI-04809
AR   CDG1AA.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1AA inheritance is autosomal
DE   recessive.
SY   Congenital disorder of glycosylation, type 1aa.
DR   MIM; 617082; phenotype.
DR   MedGen; CN238090.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1B.
AC   DI-00334
AR   CDG1B.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1B is clinically characterized
DE   by protein-losing enteropathy.
SY   Carbohydrate-deficient glycoprotein syndrome type Ib.
SY   CDG gastrointestinal type.
SY   CDGIb.
SY   CDG Ib.
SY   CDG-Ib.
SY   CDGS1B.
SY   Congenital disorder of glycosylation type Ib.
SY   Mannosephosphate isomerase deficiency.
SY   MPI deficiency.
SY   Protein-losing enteropathy-hepatic fibrosis syndrome.
SY   Saguenay-Lac Saint-Jean syndrome.
SY   SLSJ syndrome.
DR   MIM; 602579; phenotype.
DR   MedGen; C1865145.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1BB.
AC   DI-05282
AR   CDG1BB.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1BB inheritance is autosomal
DE   recessive.
DR   MIM; 613861; phenotype.
DR   MedGen; C4693133.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1C.
AC   DI-00335
AR   CDG1C.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   Carbohydrate-deficient glycoprotein syndrome type V.
SY   CDGS5.
DR   MIM; 603147; phenotype.
DR   MedGen; C1864178.
DR   MedGen; C2930997.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1CC.
AC   DI-05648
AR   CDG1CC.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1CC is an X-linked recessive
DE   form mainly characterized by intellectual and developmental
DE   disability.
SY   Congenital disorder of glycosylation, type Icc.
DR   MIM; 301031; phenotype.
DR   MedGen; CN262278.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1D.
AC   DI-00336
AR   CDG1D.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   Carbohydrate-deficient glycoprotein syndrome type IV.
SY   CDGS4.
DR   MIM; 601110; phenotype.
DR   MedGen; C1832736.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1E.
AC   DI-00337
AR   CDG1E.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. Some CDG1E patients have features
DE   consistent with a dystroglycanopathy and congenital muscular
DE   dystrophy, including O-mannosylation defect, camptodactyly, elevated
DE   creatine kinase, motor delay and dystrophic changes on muscel biopsy.
DR   MIM; 608799; phenotype.
DR   MedGen; C1837396.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Congenital disorder of glycosylation 1F.
AC   DI-00338
AR   CDG1F.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIf.
SY   CDG If.
SY   CDG-If.
SY   Congenital disorder of glycosylation type If.
DR   MIM; 609180; phenotype.
DR   MedGen; C1836669.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1G.
AC   DI-00339
AR   CDG1G.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIg.
SY   CDG Ig.
SY   CDG-Ig.
SY   Congenital disorder of glycosylation type Ig.
DR   MIM; 607143; phenotype.
DR   MedGen; C1846695.
DR   MedGen; C2931001.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1H.
AC   DI-00340
AR   CDG1H.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIh.
SY   CDG Ih.
SY   CDG-Ih.
SY   Congenital disorder of glycosylation type Ih.
DR   MIM; 608104; phenotype.
DR   MedGen; C1842539.
DR   MedGen; C2931002.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1I.
AC   DI-00341
AR   CDG1I.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIi.
SY   CDG Ii.
SY   CDG-Ii.
SY   Congenital disorder of glycosylation type Ii.
DR   MIM; 607906; phenotype.
DR   MedGen; C1842836.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1J.
AC   DI-00342
AR   CDG1J.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIj.
SY   CDG Ij.
SY   CDG-Ij.
SY   Congenital disorder of glycosylation type Ij.
DR   MIM; 608093; phenotype.
DR   MedGen; C1842572.
DR   MedGen; C2931004.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1K.
AC   DI-00343
AR   CDG1K.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIk.
SY   CDG Ik.
SY   CDG-Ik.
SY   Congenital disorder of glycosylation type Ik.
DR   MIM; 608540; phenotype.
DR   MedGen; C1837896.
DR   MedGen; C2931005.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1L.
AC   DI-00344
AR   CDG1L.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIl.
SY   CDG Il.
SY   CDG-Il.
SY   Congenital disorder of glycosylation type Il.
DR   MIM; 608776; phenotype.
DR   MedGen; C1837438.
DR   MedGen; C2931006.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1M.
AC   DI-00345
AR   CDG1M.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1M is a very severe disease with
DE   death occurring in early life.
SY   CDGIm.
SY   CDG Im.
SY   CDG-Im.
SY   Congenital disorder of glycosylation type Im.
SY   DK1 deficiency.
SY   Dolichol kinase deficiency.
DR   MIM; 610768; phenotype.
DR   MedGen; C1835849.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1N.
AC   DI-00346
AR   CDG1N.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIn.
SY   CDG In.
SY   CDG-In.
SY   Congenital disorder of glycosylation type In.
DR   MIM; 612015; phenotype.
DR   MedGen; C2677590.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1P.
AC   DI-02950
AR   CDG1P.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIp.
SY   CDG Ip.
SY   CDG-Ip.
SY   Congenital disorder of glycosylation type Ip.
DR   MIM; 613661; phenotype.
DR   MedGen; C3150913.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1Q.
AC   DI-02863
AR   CDG1Q.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIq.
SY   CDG Iq.
SY   CDG-Iq.
SY   Congenital disorder of glycosylation 1q.
SY   Congenital disorder of glycosylation type Iq.
SY   Ocular coloboma ichthyosis brain malformations and endocrine abnormalities.
DR   MIM; 612379; phenotype.
DR   MedGen; C3150191.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1R.
AC   DI-03397
AR   CDG1R.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIr.
SY   CDG Ir.
SY   CDG-Ir.
SY   Congenital disorder of glycosylation 1r.
SY   Congenital disorder of glycosylation type Ir.
DR   MIM; 614507; phenotype.
DR   MedGen; C3281084.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1T.
AC   DI-03611
AR   CDG1T.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIt.
SY   CDG It.
SY   CDG-It.
SY   Congenital disorder of glycosylation type It.
SY   Glycogen storage disease XIV.
SY   GSD14.
SY   GSD XIV.
SY   PGM1 deficiency.
SY   Phosphoglucomutase 1 deficiency.
DR   MIM; 614921; phenotype.
DR   MedGen; C3554056.
DR   MedGen; CN160489.
DR   MeSH; D006008.
DR   MeSH; D018981.
KW   KW-0322:Glycogen storage disease.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1U.
AC   DI-03685
AR   CDG1U.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. Some CDG1U patients have dystrophic
DE   changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-
DE   dystroglycan.
SY   CDGIu.
SY   CDG Iu.
SY   CDG-Iu.
SY   Congenital disorder of glycosylation type Iu.
DR   MIM; 615042; phenotype.
DR   MedGen; C3554385.
DR   MedGen; CN164727.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Congenital disorder of glycosylation 1W, autosomal dominant.
AC   DI-06319
AR   CDG1WAD.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG1WAD patients show variable
DE   skeletal anomalies, short stature, macrocephaly, and dysmorphic
DE   features. Some have impaired intellectual development. Additional
DE   features include increased muscle tone and muscle cramps.
SY   Congenital disorder of glycosylation, type Iw, autosomal dominant.
DR   MIM; 619714; phenotype.
DR   MedGen; CN306031.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1W, autosomal recessive.
AC   DI-04006
AR   CDG1WAR.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
DR   MIM; 615596; phenotype.
DR   MedGen; C3810062.
DR   MedGen; CN183093.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1X.
AC   DI-04007
AR   CDG1X.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIx.
SY   CDG Ix.
SY   CDG-Ix.
SY   Congenital disorder of glycosylation type Ix.
DR   MIM; 615597; phenotype.
DR   MedGen; C3810067.
DR   MedGen; CN183730.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1Y.
AC   DI-04259
AR   CDG1Y.
DE   A form of congenital disorder of glycosylation, a multisystem disorder
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIy.
SY   CDG Iy.
SY   CDG-Iy.
SY   Congenital disorder of glycosylation type Iy.
DR   MIM; 300934; phenotype.
DR   MedGen; CN221287.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2A.
AC   DI-00347
AR   CDG2A.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
SY   Carbohydrate-deficient glycoprotein syndrome type II.
SY   CDGIIa.
SY   CDG IIa.
SY   CDG-IIa.
SY   CDGS type II.
SY   Congenital disorder of glycosylation type IIa.
DR   MIM; 212066; phenotype.
DR   MedGen; C0349654.
DR   MedGen; C2931008.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2AA.
AC   DI-06728
AR   CDG2AA.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2AA is an autosomal recessive, early fatal form
DE   characterized by severe liver disease, skeletal abnormalities, and
DE   protein glycosylation defects.
SY   Congenital disorder of glycosylation, type IIaa.
DR   MIM; 620454; phenotype.
DR   MedGen; CN372448.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2C.
AC   DI-00348
AR   CDG2C.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions. The
DE   clinical features of CDG2C include intellectual disability, short
DE   stature, facial stigmata, and recurrent bacterial peripheral
DE   infections with persistently elevated peripheral leukocytes.
DE   Biochemically, CDG2C is characterized by a lack of fucosylated
DE   glycoconjugates, including selectin ligands.
SY   CDGIIc.
SY   CDG IIc.
SY   CDG-IIc.
SY   Congenital disorder of glycosylation type IIc.
SY   LAD2.
SY   Leukocyte adhesion deficiency type II.
DR   MIM; 266265; phenotype.
DR   MedGen; C0398739.
DR   MedGen; C0796132.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2D.
AC   DI-00349
AR   CDG2D.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
SY   CDGIId.
SY   CDG IId.
SY   CDG-IId.
SY   Congenital disorder of glycosylation type IId.
DR   MIM; 607091; phenotype.
DR   MedGen; C1846816.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2E.
AC   DI-00350
AR   CDG2E.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
SY   CDGIIe.
SY   CDG IIe.
SY   CDG-IIe.
SY   Congenital disorder of glycosylation type IIe.
DR   MIM; 608779; phenotype.
DR   MedGen; C1837437.
DR   MedGen; C2931010.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2F.
AC   DI-01398
AR   CDG2F.
DE   CDGs are a family of severe inherited diseases caused by a defect in
DE   protein N-glycosylation. They are characterized by under-glycosylated
DE   serum proteins. These multisystem disorders present with a wide
DE   variety of clinical features, such as disorders of the nervous system
DE   development, psychomotor retardation, dysmorphic features, hypotonia,
DE   coagulation disorders, and immunodeficiency. The broad spectrum of
DE   features reflects the critical role of N-glycoproteins during
DE   embryonic development, differentiation, and maintenance of cell
DE   functions.
SY   CDGIIf.
SY   CDG IIf.
SY   CDG-IIf.
SY   Congenital disorder of glycosylation type IIf.
DR   MIM; 603585; phenotype.
DR   MedGen; C1970344.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2G.
AC   DI-00351
AR   CDG2G.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
DE   Clinical features of CDG2G include failure to thrive, generalized
DE   hypotonia, growth retardation and mild psychomotor retardation. CDG2G
DE   is biochemically characterized by a defect in O-glycosylation as well
DE   as N-glycosylation.
SY   CDG-II caused by Cog1 deficiency.
SY   CDGIIg.
SY   CDG IIg.
SY   CDG-IIg.
SY   Congenital disorder of glycosylation type IIg.
DR   MIM; 611209; phenotype.
DR   MedGen; C1970016.
DR   MedGen; C2931011.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2H.
AC   DI-01399
AR   CDG2H.
DE   CDGs are a family of severe inherited diseases caused by a defect in
DE   protein N-glycosylation. They are characterized by under-glycosylated
DE   serum proteins. These multisystem disorders present with a wide
DE   variety of clinical features, such as disorders of the nervous system
DE   development, psychomotor retardation, dysmorphic features, hypotonia,
DE   coagulation disorders, and immunodeficiency. The broad spectrum of
DE   features reflects the critical role of N-glycoproteins during
DE   embryonic development, differentiation, and maintenance of cell
DE   functions.
SY   CDGIIh.
SY   CDG IIh.
SY   CDG-IIh.
SY   Congenital disorder of glycosylation type IIh.
DR   MIM; 611182; phenotype.
DR   MedGen; C1970021.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2I.
AC   DI-02912
AR   CDG2I.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
DE   Congenital disorder of glycosylation type 2I is characterized by mild
DE   neurological impairments.
SY   CDGIIi.
SY   CDG IIi.
SY   CDG-IIi.
SY   Congenital disorder of glycosylation type IIi.
DR   MIM; 613612; phenotype.
DR   MedGen; C3150876.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2J.
AC   DI-02772
AR   CDG2J.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
SY   CDGIIj.
SY   CDG IIj.
SY   CDG-IIj.
SY   Congenital disorder of glycosylation type IIj.
DR   MIM; 613489; phenotype.
DR   MedGen; C3150736.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2K.
AC   DI-03483
AR   CDG2K.
DE   An autosomal recessive disorder with a variable phenotype. Affected
DE   individuals show psychomotor retardation and growth retardation, and
DE   most have short stature. Other features include dysmorphism,
DE   hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and
DE   skeletal dysplasia. Congenital disorders of glycosylation are caused
DE   by a defect in glycoprotein biosynthesis and characterized by under-
DE   glycosylated serum glycoproteins and a wide variety of clinical
DE   features. The broad spectrum of features reflects the critical role of
DE   N-glycoproteins during embryonic development, differentiation, and
DE   maintenance of cell functions.
SY   CDGIIk.
SY   CDG IIk.
SY   CDG-IIk.
SY   Congenital disorder of glycosylation type IIk.
DR   MIM; 614727; phenotype.
DR   MedGen; C3553571.
DR   MedGen; CN130470.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2L.
AC   DI-03458
AR   CDG2L.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
DE   Clinical features of CDG2L include neonatal intractable focal
DE   seizures, vomiting, loss of consciousness, intracranial bleeding due
DE   to vitamin K deficiency, and death in infancy.
SY   CDGIIl.
SY   CDG IIl.
SY   CDG-IIl.
SY   Congenital disorder of glycosylation type IIl.
DR   MIM; 614576; phenotype.
DR   MedGen; C3553230.
DR   MedGen; CN124732.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2M.
AC   DI-03722
AR   CDG2M.
DE   An X-linked dominant, severe neurologic disorder characterized by
DE   developmental delay, hypotonia, ocular anomalies, and brain
DE   malformations. Othere more variable clinical features included
DE   seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent
DE   infections, dysmorphic features, shortened limbs, and coagulation
DE   defects. Congenital disorders of glycosylation are caused by a defect
DE   in glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins and a wide variety of clinical features. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions.
SY   CDGIIm.
SY   CDG IIm.
SY   CDG-IIm.
SY   Congenital disorder of glycosylation type IIm.
SY   Congenital disorder of glycosylation X-linked.
SY   DEE22.
SY   Developmental and epileptic encephalopathy 22.
SY   EIEE22.
SY   Epileptic encephalopathy, early infantile, 22.
DR   MIM; 300896; phenotype.
DR   MedGen; C3806688.
DR   MedGen; CN169673.
DR   MeSH; D013036.
DR   MeSH; D018981.
KW   KW-0887:Epilepsy.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2N.
AC   DI-04605
AR   CDG2N.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of autosomal recessive, multisystem disorders
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions.
SY   CDGIIn.
SY   CDG IIn.
SY   CDG-IIn.
SY   Congenital disorder of glycosylation, type IIn.
DR   MIM; 616721; phenotype.
DR   MedGen; CN234667.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2O.
AC   DI-04626
AR   CDG2O.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of autosomal recessive, multisystem disorders
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG2O is characterized by
DE   hepatosplenomegaly, liver failure, hypotonia, and psychomotor
DE   disability.
SY   CDGIIo.
SY   CDG IIo.
SY   CDG-IIo.
SY   Congenital disorder of glycosylation, type IIo.
DR   MIM; 616828; phenotype.
DR   MedGen; CN235345.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2P.
AC   DI-04627
AR   CDG2P.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of autosomal recessive, multisystem disorders
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. CDG2P is characterized by mild
DE   metabolic dysfunction, primarily affecting the liver. Psychomotor
DE   development is normal.
SY   CDGIIp.
SY   CDG IIp.
SY   CDG-IIp.
SY   Congenital disorder of glycosylation, type IIp.
DR   MIM; 616829; phenotype.
DR   MedGen; CN235367.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2Q.
AC   DI-04971
AR   CDG2Q.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of autosomal recessive, multisystem disorders
DE   caused by a defect in glycoprotein biosynthesis and characterized by
DE   under-glycosylated serum glycoproteins. Congenital disorders of
DE   glycosylation result in a wide variety of clinical features, such as
DE   defects in the nervous system development, psychomotor retardation,
DE   dysmorphic features, hypotonia, coagulation disorders, and
DE   immunodeficiency. The broad spectrum of features reflects the critical
DE   role of N-glycoproteins during embryonic development, differentiation,
DE   and maintenance of cell functions. The transmission pattern of CDG2Q
DE   is consistent with autosomal recessive inheritance.
SY   CDGIIq.
SY   CDG IIq.
SY   CDG-IIq.
SY   Congenital disorder of glycosylation, type IIq.
DR   MIM; 617395; phenotype.
DR   MedGen; CN241831.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2R.
AC   DI-05804
AR   CDG2R.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2R is an X-linked recessive disorder characterized by
DE   infantile onset of liver failure, recurrent infections due to
DE   hypogammaglobulinemia, and cutis laxa. Some patients may also have
DE   mild intellectual impairment and dysmorphic features.
SY   Congenital disorder of glycosylation, type IIr.
DR   MIM; 301045; phenotype.
DR   MedGen; CN280849.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2T.
AC   DI-05843
AR   CDG2T.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2T is an autosomal recessive form characterized by
DE   global developmental delay, intellectual disability with language
DE   deficit, autistic features, behavioral abnormalities, epilepsy,
DE   chronic insomnia, white matter changes on brain imaging, dysmorphic
DE   features, decreased stature, and decreased high density lipoprotein
DE   cholesterol levels.
SY   CDGIIt.
SY   CDG IIt.
SY   Congenital disorder of glycosylation, type IIt.
DR   MIM; 618885; phenotype.
DR   MedGen; CN280941.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2V.
AC   DI-06213
AR   CDG2V.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2V is an autosomal recessive form characterized by
DE   neurodevelopmental delay and variable facial dysmorphic features.
SY   Congenital disorder of glycosylation, type 2V.
DR   MIM; 619493; phenotype.
DR   MedGen; CN300357.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2W.
AC   DI-06226
AR   CDG2W.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2W is an autosomal dominant disorder characterized by
DE   liver dysfunction and coagulation deficiencies.
SY   Congenital disorder of glycosylation, type IIw.
DR   MIM; 619525; phenotype.
DR   MedGen; CN300449.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2Y.
AC   DI-06593
AR   CDG2Y.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2Y is an autosomal recessive form characterized by poor
DE   overall growth and global developmental delay with impaired
DE   intellectual development. Other features may include hypotonia,
DE   seizures, brain imaging abnormalities, dysmorphic features, and
DE   various skeletal defects.
SY   Congenital disorder of glycosylation, type IIy.
DR   MIM; 620200; phenotype.
DR   MedGen; CN322950.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2Z.
AC   DI-06594
AR   CDG2Z.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDG2Z is an autosomal recessive form characterized by a
DE   predominantly neurological phenotype with psychomotor disability,
DE   hypotonia, epilepsy and structural brain abnormalities. Biochemically,
DE   CDG2Z is characterized by combined O- and N-linked glycosylation
DE   defects.
SY   Congenital disorder of glycosylation, type IIz.
DR   MIM; 620201; phenotype.
DR   MedGen; CN322951.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation with defective fucosylation 1.
AC   DI-05266
AR   CDGF1.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. The broad
DE   spectrum of features reflects the critical role of N-glycoproteins
DE   during embryonic development, differentiation, and maintenance of cell
DE   functions. CDGF1 is an autosomal recessive disorder, apparent from
DE   birth, characterized by poor growth, failure to thrive, hypotonia,
DE   skeletal anomalies, and delayed psychomotor development with
DE   intellectual disability.
DR   MIM; 618005; phenotype.
DR   MedGen; CN258220.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation with defective fucosylation 2.
AC   DI-05480
AR   CDGF2.
DE   A form of congenital disorder of glycosylation, a genetically
DE   heterogeneous group of multisystem disorders caused by a defect in
DE   glycoprotein biosynthesis and characterized by under-glycosylated
DE   serum glycoproteins. Congenital disorders of glycosylation result in a
DE   wide variety of clinical features, such as defects in the nervous
DE   system development, psychomotor retardation, dysmorphic features,
DE   hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an
DE   autosomal recessive disorder, apparent from birth, characterized by
DE   hypotonia, poor feeding, severely impaired intellectual and
DE   psychomotor development, seizures with epileptic encephalopathy,
DE   visual impairment and other ocular features, respiratory difficulty
DE   with frequent infections, as well as contractures. Brain imaging shows
DE   cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus
DE   callosum, and white matter abnormalities including periventricular
DE   leukomalacia.
DR   MIM; 618324; phenotype.
DR   MedGen; CN258212.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital erythropoietic porphyria.
AC   DI-01401
AR   CEP.
DE   Porphyrias are inherited defects in the biosynthesis of heme,
DE   resulting in the accumulation and increased excretion of porphyrins or
DE   porphyrin precursors. They are classified as erythropoietic or
DE   hepatic, depending on whether the enzyme deficiency occurs in red
DE   blood cells or in the liver. The manifestations of CEP are
DE   heterogeneous, ranging from nonimmune hydrops fetalis due to severe
DE   hemolytic anemia in utero to milder, later onset forms, which have
DE   only skin lesions due to cutaneous photosensitivity in adult life. The
DE   deficiency in UROS activity results in the non-enzymatic conversion of
DE   hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.
SY   Gunther disease.
DR   MIM; 263700; phenotype.
DR   MedGen; C0162530.
DR   MedGen; C2718078.
//
ID   Congenital generalized lipodystrophy 1.
AC   DI-00354
AR   CGL1.
DE   An autosomal recessive disorder characterized by a near complete
DE   absence of adipose tissue, extreme insulin resistance,
DE   hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY   Berardinelli-Seip congenital lipodystrophy type 1.
SY   Berardinelli-Seip syndrome.
SY   Brunzell syndrome AGPAT2-related.
SY   BSCL1.
SY   Lipoatrophic diabetes.
SY   Lipodystrophy Berardinelli type.
SY   Total lipodystrophy and acromegaloid gigantism.
DR   MIM; 608594; phenotype.
DR   MedGen; C1720862.
DR   MeSH; D052497.
KW   KW-0219:Diabetes mellitus.
KW   KW-1022:Congenital generalized lipodystrophy.
//
ID   Congenital generalized lipodystrophy 2.
AC   DI-00355
AR   CGL2.
DE   An autosomal recessive disorder characterized by a near complete
DE   absence of adipose tissue, extreme insulin resistance,
DE   hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY   Berardinelli-Seip congenital lipodystrophy type 2.
SY   Berardinelli-Seip syndrome.
SY   Brunzell syndrome BSCL2-related.
SY   Lipoatrophic diabetes.
SY   Lipodystrophy Berardinelli type.
SY   Total lipodystrophy and acromegaloid gigantism.
DR   MIM; 269700; phenotype.
DR   MedGen; C1720863.
DR   MeSH; D052497.
KW   KW-0219:Diabetes mellitus.
KW   KW-1022:Congenital generalized lipodystrophy.
//
ID   Congenital generalized lipodystrophy 3.
AC   DI-00356
AR   CGL3.
DE   An autosomal recessive disorder characterized by a near complete
DE   absence of adipose tissue, extreme insulin resistance,
DE   hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY   Berardinelli-Seip congenital lipodystrophy type 3.
SY   BSCL3.
DR   MIM; 612526; phenotype.
DR   MedGen; C2675861.
DR   MeSH; D052497.
KW   KW-0219:Diabetes mellitus.
KW   KW-1022:Congenital generalized lipodystrophy.
//
ID   Congenital generalized lipodystrophy 4.
AC   DI-02767
AR   CGL4.
DE   A disorder characterized by the association of congenital generalized
DE   lipodystrophy with muscular dystrophy and cardiac anomalies.
DE   Congenital generalized lipodystrophy is characterized by a near
DE   complete absence of adipose tissue, extreme insulin resistance,
DE   hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
SY   Berardinelli-Seip congenital lipodystrophy type 4.
SY   Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy.
DR   MIM; 613327; phenotype.
DR   MedGen; C2750069.
DR   MeSH; D052497.
KW   KW-0219:Diabetes mellitus.
KW   KW-1022:Congenital generalized lipodystrophy.
//
ID   Congenital glucose/galactose malabsorption.
AC   DI-01402
AR   GGM.
DE   Intestinal monosaccharide transporter deficiency. It is an autosomal
DE   recessive disorder manifesting itself within the first weeks of life.
DE   It is characterized by severe diarrhea and dehydration which are
DE   usually fatal unless glucose and galactose are eliminated from the
DE   diet.
DR   MIM; 606824; phenotype.
DR   MedGen; C0268186.
//
ID   Congenital heart defects and ectodermal dysplasia.
AC   DI-04953
AR   CHDED.
DE   An autosomal dominant syndrome characterized by atrial and/or
DE   ventricular septal congenital heart defects and variable features of
DE   ectodermal dysplasia, including sparse hair, dry skin, thin skin,
DE   fragile nails, premature loss of primary teeth, and small widely
DE   spaced teeth. Patients manifest developmental disabilities ranging
DE   from motor delay and delayed speech to global developmental
DE   retardation.
DR   MIM; 617364; phenotype.
DR   MedGen; CN240689.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Congenital heart defects and skeletal malformations syndrome.
AC   DI-05064
AR   CHDSKM.
DE   An autosomal dominant disorder characterized by congenital heart
DE   disease with atrial and ventricular septal defects, variable skeletal
DE   abnormalities, and failure to thrive. Skeletal defects include pectus
DE   excavatum, scoliosis, and finger contractures. Some patient exhibit
DE   joint laxity.
DR   MIM; 617602; phenotype.
DR   MedGen; CN368510.
DR   MeSH; D001848.
DR   MeSH; D006330.
//
ID   Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.
AC   DI-04952
AR   CHDFIDD.
DE   An autosomal dominant syndrome characterized by atrial and/or
DE   ventricular septal congenital heart defects, facial dysmorphism with
DE   hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis,
DE   strabismus, posteriorly rotated ears, thin upper lip, and small mouth.
DE   Patients manifest global developmental delay, delayed walking and
DE   speech acquisition, and intellectual disability. Some patients have
DE   mild microcephaly, a small cerebral cortex, and agenesis of corpus
DE   callosum. More variable features include clinodactyly and/or
DE   camptodactyly of the fingers, hypotonia, and joint hypermobility.
DR   MIM; 617360; phenotype.
DR   MedGen; CN240690.
DR   MeSH; D006330.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Congenital heart defects, hamartomas of tongue, and polysyndactyly.
AC   DI-04320
AR   CHDTHP.
DE   A disease characterized by a constellation of anomalies including
DE   tongue hamartomas, polysyndactyly, and congenital heart defects such
DE   as atrioventricular canal and coarctation of the aorta.
DR   MIM; 217085; phenotype.
DR   MedGen; C1857587.
DR   MeSH; D006222.
DR   MeSH; D006330.
DR   MeSH; D013576.
//
ID   Congenital heart defects, multiple types, 1, X-linked.
AC   DI-03598
AR   CHTD1.
DE   A disorder characterized by congenital developmental abnormalities
DE   involving structures of the heart. Common defects include
DE   transposition of the great arteries, aortic stenosis, atrial septal
DE   defect, ventricular septal defect, pulmonic stenosis, and patent
DE   ductus arteriosus. The etiology of CHTD is complex, with contributions
DE   from environmental exposure, chromosomal abnormalities, and gene
DE   defects. Some patients with CHTD also have cardiac arrhythmias, which
DE   may be due to the anatomic defect itself or to surgical interventions.
SY   X-linked congenital heart defects nonsyndromic 1.
SY   X-linked congenital heart disease nonsyndromic 1.
DR   MIM; 306955; phenotype.
DR   MedGen; C3151867.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 2.
AC   DI-02853
AR   CHTD2.
DE   A disease characterized by congenital developmental abnormalities
DE   involving structures of the heart. CHTD2 patients have left
DE   ventricular outflow tract obstruction, subaortic stenosis, residual
DE   aortic regurgitation, atrial fibrillation, bicuspid aortic valve and
DE   aortic dilation.
SY   Congenital heart defects non-syndromic 2.
DR   MIM; 614980; phenotype.
DR   MedGen; C3150216.
DR   MedGen; C3554279.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 4.
AC   DI-04085
AR   CHTD4.
DE   A disorder characterized by congenital developmental abnormalities
DE   involving structures of the heart. Common defects include
DE   transposition of the great arteries, aortic stenosis, atrial septal
DE   defect, ventricular septal defect, pulmonic stenosis, and patent
DE   ductus arteriosus. Some patients also have cardiac arrhythmias, which
DE   may be due to the anatomic defect itself or to surgical interventions.
DR   MIM; 615779; phenotype.
DR   MedGen; CN187046.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 5.
AC   DI-05221
AR   CHTD5.
DE   A disorder characterized by congenital developmental abnormalities
DE   involving structures of the heart. Common defects include
DE   transposition of the great arteries, aortic stenosis, atrial septal
DE   defect, ventricular septal defect, pulmonic stenosis, patent ductus
DE   arteriosus, and tetralogy of Fallot. Some patients also have cardiac
DE   arrhythmias, which may be due to the anatomic defect itself or to
DE   surgical interventions. CHTD5 inheritance can be autosomal dominant or
DE   recessive.
DR   MIM; 617912; phenotype.
DR   MedGen; CN873437.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 6.
AC   DI-03082
AR   CHTD6.
DE   An autosomal dominant disorder characterized by congenital
DE   developmental abnormalities involving structures of the heart. Common
DE   defects include tetralogy of Fallot, transposition of the great
DE   arteries, double-outlet right ventricle, total anomalous pulmonary
DE   venous return, pulmonary stenosis or atresia, atrioventricular canal,
DE   ventricular septal defect, and hypoplastic left or right ventricle.
SY   DTGA3.
SY   Transposition of the great arteries, dextro-looped 3.
DR   MIM; 613854; phenotype.
DR   MedGen; C3151221.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 7.
AC   DI-05764
AR   CHTD7.
DE   An autosomal dominant disorder with incomplete penetrance
DE   characterized by congenital developmental abnormalities involving
DE   structures of the heart. Common defects include tetralogy of Fallot,
DE   pulmonary stenosis or atresia, absent pulmonary valve, right aortic
DE   arch, double aortic arch, and major aortopulmonary collateral
DE   arteries.
DR   MIM; 618780; phenotype.
DR   MedGen; CN263280.
DR   MeSH; D006330.
//
ID   Congenital heart defects, multiple types, 8, with or without heterotaxy.
AC   DI-06292
AR   CHTD8.
DE   An autosomal dominant disorder characterized by congenital
DE   developmental abnormalities involving structures of the heart. Common
DE   CHTD8 features include double-outlet right ventricle, unbalanced
DE   complete atrioventricular canal, and valvular anomalies. Vascular
DE   anomalies include dextroposition of the great arteries, anomalous
DE   pulmonary venous return, and superior vena cava to left atrium defect.
DE   Patients may also exhibit laterality defects, including dextrocardia,
DE   atrial isomerism, dextrogastria, left-sided gallbladder, and
DE   intestinal malrotation.
DR   MIM; 619657; phenotype.
DR   MedGen; CN305192.
DR   MeSH; D006330.
KW   KW-1056:Heterotaxy.
//
ID   Congenital heart defects, multiple types, 9.
AC   DI-06632
AR   CHTD9.
DE   An autosomal recessive disorder characterized by congenital
DE   developmental abnormalities involving structures of the heart. CHTD9
DE   features include common arterial trunk, tetralogy of Fallot,
DE   interrupted aortic arch, right aortic arch, ventricular hypoplasia,
DE   and hypoplastic left heart, as well as other vascular and valvular
DE   anomalies.
DR   MIM; 620294; phenotype.
DR   MedGen; CN323722.
DR   MeSH; D006330.
//
ID   Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
AC   DI-00357
AR   CHILD.
DE   An X-linked dominant disorder of lipid metabolism with disturbed
DE   cholesterol biosynthesis, which typically results in male lethality.
DE   Clinically, it is characterized by congenital, unilateral,
DE   ichthyosisform erythroderma with striking lateralization, sharp
DE   midline demarcation, and ipsilateral limb defects and hypoplasia of
DE   the body. Limbs defects range from hypoplasia of digits or ribs to
DE   complete amelia, often including scoliosis.
DR   MIM; 308050; phenotype.
DR   MedGen; C0265267.
DR   MeSH; D008052.
DR   MeSH; D016113.
DR   MeSH; D017880.
KW   KW-0977:Ichthyosis.
//
ID   Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.
AC   DI-05610
AR   CHEDDA.
DE   An autosomal dominant neurodevelopmental syndrome characterized by
DE   severe global developmental delay, impaired intellectual development,
DE   poor or absent language, significant motor disability with inability
DE   to walk, dysmorphic facial features, skeletal anomalies, and variable
DE   congenital malformations. Most patients also have seizures and
DE   structural brain abnormalities.
DR   MIM; 618494; phenotype.
DR   MedGen; CN260597.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Congenital insensitivity to pain with anhidrosis.
AC   DI-01405
AR   CIPA.
DE   Characterized by a congenital insensitivity to pain, anhidrosis
DE   (absence of sweating), absence of reaction to noxious stimuli, self-
DE   mutilating behavior, and intellectual disability. This rare autosomal
DE   recessive disorder is also known as congenital sensory neuropathy with
DE   anhidrosis or hereditary sensory and autonomic neuropathy type IV or
DE   familial dysautonomia type II.
SY   Familial dysautonomia, type II.
SY   Hereditary sensory and autonomic neuropathy IV.
SY   HSAN4.
SY   HSAN IV.
SY   Neuropathy, congenital sensory, with anhidrosis.
DR   MIM; 256800; phenotype.
DR   MedGen; C0020074.
//
ID   Congenital lactase deficiency.
AC   DI-01406
AR   COLACD.
DE   Autosomal recessive, rare and severe gastrointestinal disorder. It is
DE   characterized by watery diarrhea in infants fed with breast milk or
DE   other lactose-containing formulas. An almost total lack of LCT
DE   activity is found in jejunal biopsy material of patients with
DE   congenital lactase deficiency. Opposite to congenital lactase
DE   deficiency, also known as lactose intolerance, is the most common
DE   enzyme deficiency worldwide. It is caused by developmental down-
DE   regulation of lactase activity during childhood or early adulthood.
DE   The decline of lactase activity is a normal physiological phenomenon;
DE   however, the majority of Northern Europeans have the ability to
DE   maintain lactase activity and digest lactose throughout life (lactase
DE   persistence). The down-regulation of lactase activity operates at the
DE   transcriptional level and it is associated with a noncoding variation
DE   in the MCM6 gene, located in the upstream vicinity of LCT.
SY   Disaccharide intolerance II.
SY   Hereditary alactasia.
DR   MIM; 223000; phenotype.
DR   MedGen; C0268179.
//
ID   Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.
AC   DI-03487
AR   CLOVE.
DE   A sporadically occurring, non-hereditary disorder characterized by
DE   asymmetric somatic hypertrophy and anomalies in multiple organs. It is
DE   defined by four main clinical findings: congenital lipomatous
DE   overgrowth, vascular malformations, epidermal nevi, and
DE   skeletal/spinal abnormalities. The presence of truncal overgrowth and
DE   characteristic patterned macrodactyly at birth differentiates CLOVE
DE   from other syndromic forms of overgrowth.
SY   CLOVES syndrome.
SY   CLOVE syndrome.
SY   Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.
DR   MIM; 612918; phenotype.
DR   MedGen; C2752042.
DR   MeSH; D001165.
DR   MeSH; D008067.
DR   MeSH; D009506.
//
ID   Congenital myopathy 10A, severe variant.
AC   DI-03358
AR   CMYP10A.
DE   An autosomal recessive congenital myopathy characterized by onset at
DE   birth, or early in infancy, of respiratory distress caused by
DE   diaphragmatic weakness. Additional features are dysphagia resulting in
DE   poor feeding, failure to thrive, poor head control, facial weakness,
DE   cleft palate, contractures and scoliosis. Affected individuals become
DE   ventilator-dependent, and most require feeding by gastrostomy. The
DE   disorder results in severe muscle weakness and most patients never
DE   achieve walking. Death from respiratory failure in childhood occurs in
DE   about half of patients. Muscle biopsies from affected individuals show
DE   myopathic changes, replacement of myofibers with fatty tissue, small
DE   and incompletely fused muscle fibers, and variation in fiber size.
DE   Short regions of sarcomeric disorganization with few or no
DE   mitochondria (minicores) have been observed in some cases.
SY   EMARDD.
SY   Myopathy, early-onset, areflexia, respiratory distress, and dysphagia.
DR   MIM; 614399; phenotype.
DR   MedGen; C3280679.
DR   MedGen; C3541476.
DR   MedGen; CN119527.
DR   MeSH; D009135.
//
ID   Congenital myopathy 10B, mild variant.
AC   DI-06620
AR   CMYP10B.
DE   An autosomal recessive skeletal muscle disorder characterized by
DE   infantile or childhood onset of proximal and distal weakness of upper
DE   and lower limbs, facial weakness, areflexia, dysphagia, and
DE   respiratory distress. Muscle biopsy shows myopathic changes including
DE   type 1 fiber predominance, minicore lesions, and myofibrillar
DE   disorganization.
SY   Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant.
DR   MIM; 620249; phenotype.
DR   MedGen; C3541476.
DR   MeSH; D020512.
//
ID   Congenital myopathy 11.
AC   DI-06458
AR   CMYP11.
DE   An autosomal recessive skeletal muscle disorder characterized
DE   clinically by severe hypotonia apparent at birth, motor delay, and
DE   walking difficulties. The course of the disease is non-progressive,
DE   and affected individuals achieve independent ambulation and tend to
DE   show improvement of muscle weakness throughout childhood and early
DE   adulthood.
SY   MYONP.
SY   Myopathy, congenital, non-progressive.
DR   MIM; 619967; phenotype.
DR   MedGen; CN315819.
DR   MeSH; D009135.
//
ID   Congenital myopathy 12.
AC   DI-01385
AR   CMYP12.
DE   A lethal, autosomal recessive, congenital myopathy characterized by
DE   fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of
DE   beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and
DE   disruption of sarcomeres with disorganization of the Z band.
SY   Myopathy, congenital, Compton-North.
SY   MYPCN.
DR   MIM; 612540; phenotype.
DR   MedGen; C2675527.
DR   MeSH; D020914.
//
ID   Congenital myopathy 13.
AC   DI-03974
AR   CMYP13.
DE   An autosomal recessive disease characterized by congenital weakness
DE   and arthrogryposis, cleft palate, ptosis, short stature,
DE   kyphoscoliosis, talipes deformities, and susceptibility to malignant
DE   hyperthermia provoked by anesthesia.
SY   Congenital myopathy with cleft palate and malignant hyperthermia.
SY   Myopathy, congenital, Bailey-Bloch.
SY   MYPBB.
SY   NAM.
SY   Native American myopathy.
DR   MIM; 255995; phenotype.
DR   MedGen; C1850625.
DR   MeSH; D002972.
DR   MeSH; D008305.
DR   MeSH; D009135.
//
ID   Congenital myopathy 14.
AC   DI-05562
AR   CMYP14.
DE   An autosomal recessive congenital myopathy characterized by decreased
DE   fetal movements, severe muscle weakness and respiratory failure.
DE   Additional features include delayed motor development, areflexia,
DE   facial weakness, normal eye movements, head lag, and mild
DE   contractures. Skeletal muscle biopsy shows variation in fiber size
DE   with atrophy of the fast-twitch type II fibers.
SY   MYOFTA.
SY   Myopathy, congenital, with fast-twitch (type II) fiber atrophy.
SY   Myopathy, congenital, with fast-twitch type II fiber atrophy.
DR   MIM; 618414; phenotype.
DR   MedGen; CN258373.
DR   MeSH; D020914.
//
ID   Congenital myopathy 15.
AC   DI-06570
AR   CMYP15.
DE   An autosomal dominant myopathy characterized by neonatal onset of
DE   hypotonia, muscle weakness, and respiratory muscle involvement
DE   resulting in severe respiratory insufficiency. The disorder improves
DE   over time, although forced vital capacity remains decreased. Other
DE   features include facial weakness, often with ptosis or external
DE   ophthalmoplegia, jaw or distal joint contractures, scoliosis, and
DE   osteopenia.
SY   MYONRI.
SY   Myopathy, congenital, with neonatal respiratory insufficiency.
DR   MIM; 620161; phenotype.
DR   MedGen; CN322668.
DR   MeSH; D009135.
//
ID   Congenital myopathy 16.
AC   DI-05629
AR   CMYP16.
DE   An autosomal dominant muscular disorder characterized by muscle
DE   weakness, hypotonia associated with high-frequency postural tremor of
DE   the limbs, mildly delayed walking, and steppage gait. Additional
DE   features include skeletal deformities such as scoliosis, thoracic
DE   asymmetry and spinal rigidity. Some patients show mild facial
DE   dysmorphic features. Cognitive functions are normal.
SY   Myogenic tremor.
SY   Myopathy, congenital, with tremor.
SY   MYOTREM.
DR   MIM; 618524; phenotype.
DR   MedGen; CN262196.
DR   MeSH; D009135.
//
ID   Congenital myopathy 17.
AC   DI-05895
AR   CMYP17.
DE   An autosomal recessive muscular disorder characterized by hypotonia
DE   and respiratory insufficiency apparent soon after birth, high
DE   diaphragmatic dome on imaging, poor overall growth, pectus excavatum,
DE   dysmorphic facies, and renal anomalies in some affected individuals.
DE   Additional variable features include delayed motor development, mildly
DE   decreased endurance, distal arthrogryposis, and lung hypoplasia
DE   resulting in early death.
SY   MYODRIF.
SY   Myopathy, congenital, due to MYOD1 deficiency.
SY   Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies.
DR   MIM; 618975; phenotype.
DR   MedGen; CN283324.
DR   MeSH; D009135.
//
ID   Congenital myopathy 18.
AC   DI-06613
AR   CMYP18.
DE   A congenital myopathy of variable severity, ranging from severe fetal
DE   akinesia to milder forms of muscle weakness. Most affected individuals
DE   show delayed motor development with generalized hypotonia and
DE   progressive axial and limb muscle weakness beginning soon after birth
DE   or in infancy. Additional features may include swallowing
DE   difficulties, external ophthalmoplegia, ptosis, high-arched palate,
DE   and respiratory insufficiency. Muscle biopsy shows variable
DE   morphologic abnormalities, including alveolar changes in the
DE   intermyofibrillar network, fiber size variability, focal
DE   disorganization, internal nuclei, and dilated sarcoplasmic reticulum
DE   and T-tubules. CMYP18 inheritance is autosomal dominant or recessive.
SY   DHPR congenital myopathy.
SY   DHPRM.
SY   Dihydropyridine receptor congenital myopathy.
SY   Myopathy, congenital, due to dihydropyridine receptor defect.
DR   MIM; 620246; phenotype.
DR   MedGen; CN323391.
DR   MeSH; D020512.
//
ID   Congenital myopathy 19.
AC   DI-05660
AR   CMYP19.
DE   An autosomal recessive muscular disorder characterized by infantile
DE   onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis
DE   and dysmorphic facial features. Disease severity is variable, ranging
DE   from mild to severe.
SY   Myopathy, congenital, progressive, with scoliosis.
SY   MYOSCO.
DR   MIM; 618578; phenotype.
DR   MedGen; CN262312.
DR   MeSH; D009135.
//
ID   Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia.
AC   DI-01331
AR   CMYP1A.
DE   An autosomal dominant myopathy characterized by hypotonia and proximal
DE   muscle weakness primarily affecting the lower limbs, beginning in
DE   infancy or early childhood. Some patients manifest later onset of
DE   symptoms. The clinical course of the disorder is usually slow or non-
DE   progressive in adulthood, and the severity of the symptoms is
DE   variable. Affected individuals typically show delayed motor
DE   development and usually achieve independent walking, although many
DE   have difficulty running or climbing stairs. Additional features often
DE   include mild facial weakness, joint laxity, shoulder girdle weakness,
DE   and skeletal manifestations, such as dislocation of the hips, foot
DE   deformities, scoliosis, and Achilles tendon contractures. Microscopic
DE   examination of affected skeletal muscle reveals a predominance of type
DE   I fibers containing amorphous-looking areas (cores) that do not stain
DE   with oxidative and phosphorylase histochemical techniques. Additional
DE   pathologic findings may also be observed on muscle biopsy. CMYP1A
DE   affected individuals are at risk for malignant hyperthermia, and both
DE   disorders may be present in the same family.
SY   CCD.
SY   Central core disease of muscle.
DR   MIM; 117000; phenotype.
DR   MedGen; C0751951.
DR   MedGen; C1861751.
DR   MedGen; C1861752.
DR   MedGen; C1861753.
DR   MedGen; C2674259.
DR   MeSH; D020512.
//
ID   Congenital myopathy 1B, autosomal recessive.
AC   DI-02002
AR   CMYP1B.
DE   An autosomal recessive myopathy characterized by severe hypotonia and
DE   generalized muscle weakness and atrophy apparent soon after birth or
DE   in early childhood. Affected individuals show delayed motor
DE   development, proximal muscle weakness with axial and shoulder girdle
DE   involvement, difficulty walking or running, external ophthalmoplegia,
DE   and bulbar weakness often resulting in feeding difficulties and
DE   respiratory insufficiency. Disease severity is variable. Some affected
DE   individuals show symptoms in utero, including reduced fetal movements,
DE   polyhydramnios, and intrauterine growth restriction. Some patients
DE   have lethal fetal akinesia with death in utero. Muscle biopsy can show
DE   variable findings, including multiple and poorly circumscribed areas
DE   of sarcomere disorganization and mitochondria depletion (areas termed
DE   minicores). Typically, no dystrophic signs, such as muscle fiber
DE   necrosis or regeneration or significant endomysial fibrosis, are
DE   present.
SY   Minicore myopathy with external ophthalmoplegia.
SY   MMDO.
SY   Multicore myopathy with external ophthalmoplegia.
SY   Multiminicore disease with external ophthalmoplegia.
DR   MIM; 255320; phenotype.
DR   MedGen; C1850674.
DR   MeSH; D020512.
//
ID   Congenital myopathy 20.
AC   DI-06640
AR   CMYP20.
DE   An autosomal recessive neuromuscular disorder characterized by
DE   variable manifestations. Some patients have congenital limb or distal
DE   contractures manifesting soon after birth, while others develop muscle
DE   weakness with difficulty running and climbing stairs in early
DE   childhood. Additional features may include facial dysmorphism, and
DE   delayed development with intellectual disability. Skeletal muscle
DE   biopsy may show variation in fiber size with type 1 fiber predominance
DE   and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies.
DR   MIM; 620310; phenotype.
DR   MedGen; CN324005.
DR   MeSH; D020914.
//
ID   Congenital myopathy 21 with early respiratory failure.
AC   DI-06656
AR   CMYP21.
DE   An autosomal recessive muscle disorder characterized by diaphragmatic
DE   weakness, respiratory impairment, and spinal rigidity. Disease onset
DE   ranges from early childhood to adulthood and severity is variable.
DE   Death from respiratory failure may occur in severe cases. Some
DE   affected individuals may show developmental delay and hypertrophic
DE   cardiomyopathy.
DR   MIM; 620326; phenotype.
DR   MedGen; CN327014.
DR   MeSH; D020914.
//
ID   Congenital myopathy 22A, classic.
AC   DI-06672
AR   CMYP22A.
DE   A form of congenital myopathy, a clinically and genetically
DE   heterogeneous group of muscle disorders characterized by hypotonia and
DE   muscle weakness apparent at birth, and specific pathological features
DE   on muscle biopsy. CMYP22A is an autosomal recessive form characterized
DE   by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia
DE   associated with respiratory insufficiency. Affected individuals who
DE   survive the neonatal period have delayed motor development, difficulty
DE   walking, proximal muscle weakness of the upper and lower limbs, facial
DE   and neck muscle weakness, easy fatigability, and mild limb
DE   contractures or foot deformities.
DR   MIM; 620351; phenotype.
DR   MedGen; CN327123.
DR   MeSH; D020914.
//
ID   Congenital myopathy 22B, severe fetal.
AC   DI-06673
AR   CMYP22B.
DE   A severe congenital myopathy, a clinically and genetically
DE   heterogeneous group of muscle disorders characterized by hypotonia and
DE   muscle weakness apparent at birth, and specific pathological features
DE   on muscle biopsy. CMYP22B is an autosomal recessive form characterized
DE   by onset in utero. Affected individuals show fetal akinesia, and
DE   develop fetal hydrops with pulmonary hypoplasia, severe joint
DE   contractures, and generalized muscle hypoplasia. Death occurs in utero
DE   or soon after birth.
DR   MIM; 620369; phenotype.
DR   MedGen; CN327124.
DR   MeSH; D020914.
//
ID   Congenital myopathy 23.
AC   DI-02035
AR   CMYP23.
DE   An autosomal dominant muscular disorder characterized clinically by
DE   hypotonia and muscle weakness, and a static or slowly progressive
DE   clinical course. Disease onset ranges from birth to childhood.
DE   Histologic examination of muscle fibers shows various anomalies
DE   including fiber type disproportion, an irregular myofibrillar network,
DE   abnormal thread-like or rod-shaped structures, and cap-like structures
DE   which are well demarcated and peripherally located under the
DE   sarcolemma with abnormal accumulation of sarcomeric proteins.
SY   CAPM2.
SY   Cap myopathy 2.
SY   NEM4.
SY   Nemaline myopathy 4.
SY   TPM2-related nemaline myopathy.
DR   MIM; 609285; phenotype.
DR   MedGen; C1836447.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Congenital myopathy 24.
AC   DI-04947
AR   CMYP4.
DE   An autosomal recessive muscular disorder characterized by slowly
DE   progressive muscle weakness and atrophy, mainly affecting the lower
DE   limbs and neck. Some patients may have mild cardiac or respiratory
DE   involvement, but they do not have respiratory failure. Muscle biopsy
DE   shows nemaline bodies.
SY   NEM11.
SY   Nemaline myopathy 11, autosomal recessive.
DR   MIM; 617336; phenotype.
DR   MedGen; CN240509.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Congenital myopathy 2A, typical, autosomal dominant.
AC   DI-02034
AR   CMYP2A.
DE   A muscular disorder characterized by generalized muscle weakness,
DE   delayed motor milestones, hypotonia, and muscle fiber abnormalities on
DE   histologic examination. Histologic findings include abnormal
DE   thread- or rod-like structures (nemaline rods), intranuclear rods,
DE   clumped filaments, cores, or fiber-type disproportion. The spectrum of
DE   clinical phenotypes ranges from severe neonatal presentations to onset
DE   of a milder disorder in childhood.
SY   ACTA1-related nemaline myopathy.
SY   Actin myopathy congenital with cores.
SY   Myopathy, actin, congenital, with excess of thin myofilaments.
SY   NEM3.
SY   Nemaline myopathy 3.
SY   Nemaline myopathy 3 with intranuclear rods.
DR   MIM; 161800; phenotype.
DR   MedGen; C1834336.
DR   MedGen; C2750536.
DR   MedGen; C2750537.
DR   MedGen; CN187050.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Congenital myopathy 2B, severe infantile, autosomal recessive.
AC   DI-06621
AR   CMYP2B.
DE   An autosomal recessive skeletal muscle disorder characterized by
DE   severe hypotonia with lack of spontaneous movements and respiratory
DE   insufficiency, usually leading to death in infancy or early childhood.
DE   Longer survival has been reported.
DR   MIM; 620265; phenotype.
DR   MedGen; CN323652.
DR   MeSH; D020512.
//
ID   Congenital myopathy 2C, severe infantile, autosomal dominant.
AC   DI-06622
AR   CMYP2C.
DE   An autosomal dominant skeletal muscle disorder characterized by severe
DE   congenital weakness usually resulting in death from respiratory
DE   failure in the first year or so of life. Patients present at birth
DE   with hypotonia, lack of antigravity movements, poor head control, and
DE   difficulties feeding or breathing, often requiring tube-feeding and
DE   mechanical ventilation. Decreased fetal movements may be observed in
DE   some cases.
DR   MIM; 620278; phenotype.
DR   MedGen; CN323668.
DR   MeSH; D020512.
//
ID   Congenital myopathy 3 with rigid spine.
AC   DI-00795
AR   CMYP3.
DE   An autosomal recessive, slowly progressive muscular disorder apparent
DE   from birth or early childhood and characterized by hypotonia, proximal
DE   muscle weakness, poor axial muscle strength, scoliosis and neck
DE   weakness, and a variable degree of spinal rigidity. Most patients
DE   remain ambulatory. Early ventilatory insufficiency may lead to death
DE   by respiratory failure. Additional features may include facial muscle
DE   weakness, amyotrophy, joint contractures, distal hyperlaxity,
DE   pulmonary hypertension with secondary cardiac dysfunction, and insulin
DE   resistance in patients with a low BMI. Skeletal muscle biopsy
DE   typically shows multiminicores and other abnormal non-specific
DE   myopathic findings.
SY   Congenital merosin-positive muscular dystrophy with early spine rigidity.
SY   Congenital muscular dystrophy Eichsfeld type.
SY   Congenital muscular dystrophy merosin-positive with early spine rigidity.
SY   Desmin-related myopathy with Mallory bodies.
SY   MDRS1.
SY   Minicore myopathy severe classic form.
SY   Multicore myopathy severe classic form.
SY   Multiminicore disease severe classic form.
SY   Rigid spine muscular dystrophy 1.
SY   Rigid spine syndrome.
SY   RSMD1.
SY   RSS.
SY   SEPN1-related myopathy.
DR   MIM; 602771; phenotype.
DR   MedGen; C0410180.
DR   MeSH; D020914.
KW   KW-0911:Desmin-related myopathy.
//
ID   Congenital myopathy 4A, autosomal dominant.
AC   DI-01413
AR   CMYP4A.
DE   A muscular disorder characterized by onset of muscle weakness in
DE   infancy or childhood. Most affected individuals show mildly delayed
DE   motor development, hypotonia, generalized muscle weakness, and
DE   weakness of the proximal limb muscles and neck muscles, resulting in
DE   difficulty running and easy fatigability. Many patients have
DE   respiratory insufficiency with reduced vital capacity. Skeletal muscle
DE   biopsy shows nemaline rod inclusions, subsarcolemmal 'cap' structures,
DE   and fiber-type disproportion.
SY   CAPM1.
SY   CAP myopathy 1.
SY   CFTD.
SY   CFTDM.
SY   Congenital fiber-type disproportion myopathy.
SY   Myopathy, congenital, with fiber-type disproportion.
SY   NEM1.
SY   Nemaline myopathy 1.
DR   MIM; 255310; phenotype.
DR   MedGen; C0546264.
DR   MeSH; D020914.
//
ID   Congenital myopathy 4B, autosomal recessive.
AC   DI-02032
AR   CMYP4B.
DE   A muscular disorder characterized by muscle weakness appearing in
DE   infancy or early childhood. Most affected individuals show congenital
DE   contractures, delayed motor development, hypotonia, respiratory
DE   insufficiency, generalized muscle weakness, and weakness of the
DE   proximal limb muscles and neck muscles, resulting in difficulty
DE   walking or inability to walk. Skeletal muscle biopsy shows variable
DE   histologic findings, including nemaline rods, type 1 fiber
DE   predomination, and centralized nuclei.
DR   MIM; 609284; phenotype.
DR   MedGen; C1836448.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Congenital myopathy 5 with cardiomyopathy.
AC   DI-01514
AR   CMYP5.
DE   An autosomal recessive, early-onset muscular disorder characterized by
DE   dilated cardiomyopathy, delayed motor development with generalized
DE   muscle weakness predominantly affecting proximal and distal lower
DE   limbs. Skeletal muscle biopsies show minicore-like lesions with
DE   mitochondrial depletion and sarcomere disorganization, centralized
DE   nuclei, and type 1 fiber predominance. Dystrophic changes become
DE   apparent in the second decade. Cardiac muscle biopsies show disruption
DE   of myocardial architecture, nuclear hypertrophy, and endomysial
DE   fibrosis. Sudden death may occurr due to cardiomyopathy.
SY   Early-onset myopathy with fatal cardiomyopathy.
SY   EOMFC.
SY   Myopathy, early-onset, with fatal cardiomyopathy.
SY   Salih myopathy.
SY   SALMY.
DR   MIM; 611705; phenotype.
DR   MedGen; C2673677.
DR   MeSH; D009135.
DR   MeSH; D009202.
KW   KW-0122:Cardiomyopathy.
//
ID   Congenital myopathy 6 with ophthalmoplegia.
AC   DI-01816
AR   CMYP6.
DE   A muscular disorder characterized by mild-to-moderate muscle weakness,
DE   ophthalmoplegia, and contractures at birth in some patients. Muscle
DE   biopsies from patients show predominance of type 1 fibers and small or
DE   absent type 2A fibers. The disease is non-progressive or it progresses
DE   very slowly. Inheritance is autosomal dominant or recessive.
SY   IBM3.
SY   Inclusion body myopathy 3.
SY   Inclusion body myopathy 3, autosomal dominant.
SY   Myopathy, proximal, with ophthalmoplegia.
SY   Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.
SY   MYPOP.
SY   Proximal myopathy and ophthalmoplegia.
DR   MIM; 605637; phenotype.
DR   MedGen; C1854106.
DR   MeSH; D003286.
DR   MeSH; D009886.
DR   MeSH; D018979.
//
ID   Congenital myopathy 7A, myosin storage, autosomal dominant.
AC   DI-02021
AR   CMYP7A.
DE   A skeletal muscle disorder characterized by prominent axial and
DE   proximal weakening, spinal stiffness, severe scoliosis, with or
DE   without respiratory and cardiac involvement. The age at symptom onset
DE   can range from early childhood to late adulthood, and disease severity
DE   ranges from asymptomatic to severe muscular weakness and respiratory
DE   insufficiency. Histopathological examination shows variable findings
DE   including subsarcolemmal hyaline bodies in type 1 fibers.
SY   Hyaline body myopathy autosomal dominant.
SY   MSMA.
SY   Myopathy, myosin storage, autosomal dominant.
SY   Scapuloperoneal muscular dystrophy.
SY   Scapuloperoneal myopathy MYH7-related.
SY   Scapuloperoneal syndrome, myopathic type.
SY   SPMD.
SY   SPMM.
DR   MIM; 608358; phenotype.
DR   MedGen; C1842160.
DR   MeSH; D009135.
//
ID   Congenital myopathy 7B, myosin storage, autosomal recessive.
AC   DI-04466
AR   CMYP7B.
DE   A skeletal muscle disorder characterized by the onset of
DE   scapuloperoneal muscle weakness in early childhood or young adulthood.
DE   Affected individuals have difficulty walking, steppage gait, and
DE   scapular winging due to shoulder girdle involvement. The severity and
DE   progression of the disorder is highly variable. Most patients develop
DE   respiratory insufficiency and restrictive lung disease. Some develop
DE   hypertrophic cardiomyopathy. Histopathological examination shows
DE   variable findings including subsarcolemmal hyaline bodies in type 1
DE   fibers.
SY   MSMB.
SY   Myopathy, hyaline body, autosomal recessive.
SY   Myopathy, myosin storage, autosomal recessive.
DR   MIM; 255160; phenotype.
DR   MedGen; C1850709.
DR   MeSH; D009135.
//
ID   Congenital myopathy 8.
AC   DI-05700
AR   CMYP8.
DE   An autosomal dominant muscular disorder characterized by progressive
DE   early-onset muscle weakness, gait difficulties, loss of ambulation,
DE   and respiratory insufficiency. Morphological and ultrastructural
DE   analyses of muscle biopsies reveal type 1 fiber predominance, multiple
DE   structured cores forming a circular arrangement beneath the
DE   sarcolemma, and jagged Z-lines.
SY   MSCD.
SY   Multiple structured core disease.
SY   MYOCOZ.
SY   Myopathy, congenital, with structured cores and Z-line abnormalities.
DR   MIM; 618654; phenotype.
DR   MedGen; CN262665.
DR   MeSH; D009135.
//
ID   Congenital myopathy 9A.
AC   DI-05793
AR   CMYP9A.
DE   An autosomal recessive muscular disorder characterized by severe
DE   hypotonia apparent at birth, poor feeding, ulnar deviation of the
DE   hands, laterally deviated feet, fractures of the long bones,
DE   respiratory insufficiency due to muscle weakness, and death in
DE   infancy.
SY   Myopathy, congenital, with respiratory insufficiency and bone fractures.
SY   MYORIBF.
DR   MIM; 618822; phenotype.
DR   MedGen; CN263393.
DR   MeSH; D009135.
//
ID   Congenital myopathy 9B, proximal, with minicore lesions.
AC   DI-05794
AR   CMYP9B.
DE   An autosomal recessive, slowly progressive muscular disorder
DE   characterized by primarily proximal muscle weakness, neonatal
DE   hypotonia leading to delayed motor development, mildly delayed walking
DE   in childhood, and difficulty running or climbing. Cardiac function is
DE   unaffected, but most patients have obstructive sleep apnea. Muscle
DE   biopsy shows type 1 fiber predominance with disorganized Z-lines and
DE   minicores that disrupt the myofibrillar striation pattern.
SY   Myopathy, congenital proximal, with minicore lesions.
SY   MYOPMIL.
DR   MIM; 618823; phenotype.
DR   MedGen; CN263394.
DR   MeSH; D009135.
//
ID   Congenital myopathy with excess of muscle spindles.
AC   DI-01411
AR   CMEMS.
DE   Variant of Costello syndrome.
DR   MIM; 218040; phenotype.
DR   MedGen; C1968782.
//
ID   Congenital short bowel syndrome.
AC   DI-03743
AR   CSBS.
DE   A disease characterized by a shortened small intestine, intestinal
DE   malrotation, and malabsorption. The mean length of the small intestine
DE   in CSBS patients is approximately 50 cm, compared with a normal length
DE   at birth of 190-280 cm. Patients with CSBS may develop severe
DE   malnutrition as a result of the hugely reduced absorptive surface of
DE   the small intestine. Infants require parenteral nutrition for
DE   survival. However, parenteral nutrition itself causes life-threatening
DE   complications such as sepsis and liver failure which are associated
DE   with a high rate of mortality early in life.
SY   Congenital short bowel and malrotation syndrome.
SY   CSBM.
DR   MIM; 615237; phenotype.
DR   MedGen; C0021847.
DR   MedGen; CN169861.
DR   MeSH; D012778.
//
ID   Congenital short bowel syndrome, X-linked.
AC   DI-03734
AR   CSBSX.
DE   A disease characterized by a shortened small intestine, and
DE   malabsorption. The mean length of the small intestine in affected
DE   individuals is approximately 50 cm, compared with a normal length at
DE   birth of 190-280 cm. It is associated with significant mortality and
DE   morbidity. Infants usually present with failure to thrive, recurrent
DE   vomiting, and diarrhea.
DR   MIM; 300048; phenotype.
DR   MedGen; CN177834.
DR   MeSH; D012778.
//
ID   Congenital smooth muscle hamartoma, with or without hemihypertrophy.
AC   DI-06743
AR   CSMH.
DE   A benign skin lesion that usually presents as an indurated, slightly
DE   pigmented or flesh-colored plaque with perifollicular papules or
DE   coarse hair. Histopathologically, there is excessive proliferation of
DE   ectopic smooth muscle within the dermis. Hair follicles are normal in
DE   number and hyperkeratosis, acanthosis and hyperpigmentation of the
DE   basal cell layer can sometimes be seen. Rarely, CSMH is associated
DE   with hemihypertrophy.
DR   MIM; 620470; phenotype.
DR   MedGen; CN372696.
DR   MeSH; D006222.
//
ID   Congenital sucrase-isomaltase deficiency.
AC   DI-01419
AR   CSID.
DE   Autosomal recessive intestinal disorder that is clinically
DE   characterized by fermentative diarrhea, abdominal pain, and cramps
DE   upon ingestion of sugar. The symptoms are the consequence of absent or
DE   drastically reduced enzymatic activities of sucrase and isomaltase.
DE   The prevalence of CSID is 0.02 % in individuals of European descent
DE   and appears to be much higher in Greenland, Alaskan, and Canadian
DE   native people. CSID arises due to post-translational perturbations in
DE   the intracellular transport, polarized sorting, aberrant processing,
DE   and defective function of SI.
SY   Disaccharide intolerance I.
DR   MIM; 222900; phenotype.
DR   MedGen; C1283620.
//
ID   Congenital systemic glutamine deficiency.
AC   DI-01420
AR   CSGD.
DE   Rare developmental disorder with severe brain malformation resulting
DE   in multi-organ failure and neonatal death. Glutamine is largely absent
DE   from affected patients serum, urine and cerebrospinal fluid.
SY   Glutamine deficiency, congenital.
SY   Glutamine synthase deficiency, congenital systemic.
DR   MIM; 610015; phenotype.
DR   MedGen; C1864910.
DR   MeSH; D000592.
//
ID   Conotruncal heart malformations.
AC   DI-01424
AR   CTHM.
DE   A group of congenital heart defects involving the outflow tracts.
DE   Examples include truncus arteriosus communis, double-outlet right
DE   ventricle and transposition of great arteries. Truncus arteriosus
DE   communis is characterized by a single outflow tract instead of a
DE   separate aorta and pulmonary artery. In transposition of the great
DE   arteries, the aorta arises from the right ventricle and the pulmonary
DE   artery from the left ventricle. In double outlet of the right
DE   ventricle, both the pulmonary artery and aorta arise from the right
DE   ventricle.
SY   CAFS.
SY   Common arterial trunk.
SY   Conotruncal anomaly face syndrome.
SY   Conotruncal heart defects.
SY   CTHD.
SY   DORV.
SY   Double-outlet right ventricle.
SY   Persistent truncus arteriosus.
SY   PTA.
SY   TAC.
SY   Truncus arteriosus communis.
DR   MIM; 217095; phenotype.
DR   MedGen; C0013069.
DR   MedGen; C0041207.
DR   MedGen; C0152419.
DR   MedGen; C0795907.
DR   MedGen; C1857586.
DR   MeSH; D004310.
DR   MeSH; D014339.
//
ID   Contractural arachnodactyly, congenital.
AC   DI-01397
AR   CCA.
DE   An autosomal dominant connective tissue disorder characterized by
DE   contractures, arachnodactyly, scoliosis, and crumpled ears.
SY   Arthrogryposis, distal, type 9.
SY   Beals syndrome.
SY   CCA.
SY   Congenital contractural arachnodactyly.
SY   DA9.
DR   MIM; 121050; phenotype.
DR   MedGen; C0220668.
DR   MeSH; D001176.
//
ID   Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A.
AC   DI-05625
AR   CPSFS1A.
DE   An autosomal dominant disease characterized by contractures of
DE   proximal and distal joints, pterygia involving the neck, axillae,
DE   elbows, and/or knees, as well as variable vertebral, carpal, and
DE   tarsal fusions and short stature. Progression of vertebral fusions has
DE   been observed, and inter- and intrafamilial variability has been
DE   reported.
SY   Arthrogryposis, distal, type 8.
SY   DA8.
SY   Multiple pterygium syndrome, autosomal dominant.
SY   Pterygium syndrome, multiple, autosomal dominant.
DR   MIM; 178110; phenotype.
DR   MedGen; C1867440.
DR   MeSH; D001176.
//
ID   Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
AC   DI-05594
AR   CPSFS1B.
DE   An autosomal recessive disease characterized by contractures affecting
DE   proximal and distal joints, vertebral fusions and scoliosis, carpal
DE   and tarsal fusions as well as webbing of the skin (pterygium)
DE   involving the neck, elbows, fingers, and/or knees. Other features
DE   include facial dysmorphism, short neck, and absent finger flexion
DE   creases. Inter- and intrafamilial variability has been observed.
DR   MIM; 618469; phenotype.
DR   MedGen; CN259076.
DR   MeSH; D001176.
//
ID   Convulsions, familial infantile, with paroxysmal choreoathetosis.
AC   DI-03372
AR   ICCA.
DE   A syndrome characterized by clinical features of benign familial
DE   infantile seizures and episodic kinesigenic dyskinesia. Benign
DE   familial infantile seizures is a disorder characterized by afebrile
DE   seizures occurring during the first year of life, without neurologic
DE   sequelae. Paroxysmal choreoathetosis is a disorder of involuntary
DE   movements characterized by attacks that occur spontaneously or are
DE   induced by a variety of stimuli.
SY   Familial infantile convulsions and paroxysmal choreoathetosis.
SY   ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions.
SY   PKD/IC.
DR   MIM; 602066; phenotype.
DR   MedGen; C1865926.
DR   MeSH; D020820.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Cornea plana 2, autosomal recessive.
AC   DI-02364
AR   CNA2.
DE   A severe form of cornea plana, a rare ocular disorder characterized by
DE   flattened corneal curvature leading to a decrease in refraction,
DE   reduced visual activity, hyperopia, hazy corneal limbus, opacities in
DE   the corneal parenchyma, and marked arcus senilis often detected at an
DE   early age. CNA2 patients manifest extreme hyperopia and additional
DE   ocular anomalies such as malformations of the iris, a slit-like pupil,
DE   and adhesions between iris and cornea.
SY   Cornea plana congenita, recessive.
DR   MIM; 217300; phenotype.
DR   MedGen; C1857574.
DR   MeSH; D003316.
//
ID   Corneal dystrophy and perceptive deafness.
AC   DI-01426
AR   CDPD.
DE   An ocular disease characterized by the association of corneal clouding
DE   with progressive perceptive hearing loss.
SY   CDPD1.
SY   Corneal dystrophy and sensorineural deafness.
SY   Corneal endothelial dystrophy and perceptive deafness.
SY   Harboyan syndrome.
DR   MIM; 217400; phenotype.
DR   MedGen; C1857572.
DR   MeSH; D003317.
KW   KW-0209:Deafness.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Avellino type.
AC   DI-01264
AR   CDA.
DE   A corneal disease resulting in reduced visual acuity and characterized
DE   by gray, crumb-like granular deposits in the anterior third of the
DE   stroma in each corneal button. Fusiform amyloid deposits,
DE   histochemically and morphologically identical to those of lattice
DE   corneal dystrophy, are found in the deeper stroma. Additional features
DE   include recurrent corneal erosions, and glare and decreased night
DE   vision.
SY   ACD.
SY   Avellino corneal dystrophy.
SY   CGD2.
SY   Combined granular-lattice corneal dystrophy.
SY   Granular corneal dystrophy type II.
DR   MIM; 607541; phenotype.
DR   MedGen; C1275685.
DR   MeSH; D003317.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, congenital stromal.
AC   DI-01418
AR   CSCD.
DE   A corneal dystrophy characterized by congenital corneal opacification
DE   consisting of a large number of flakes and spots throughout all layers
DE   of the stroma. It results in progressive, painless visual loss.
DE   Corneal erosions and photophobia are absent.
DR   MIM; 610048; phenotype.
DR   MedGen; C1864738.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, epithelial basement membrane.
AC   DI-01535
AR   EBMD.
DE   A bilateral anterior corneal dystrophy characterized by grayish
DE   epithelial fingerprint lines, geographic map-like lines, and dots (or
DE   microcysts) on slit-lamp examination. Pathologic studies show
DE   abnormal, redundant basement membrane and intraepithelial lacunae
DE   filled with cellular debris.
SY   Anterior basement membrane corneal dystrophy.
SY   Cogan corneal dystrophy.
SY   Map-dot-fingerprint type corneal dystrophy.
SY   Microcystic corneal dystrophy.
DR   MIM; 121820; phenotype.
DR   MedGen; C0521723.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, fleck.
AC   DI-01431
AR   CFD.
DE   A form of stromal corneal dystrophy characterized by numerous small
DE   white flecks scattered in all levels of the stroma, with
DE   configurations varying from semicircular to wreath-like, curvilinear,
DE   or punctate. Although CFD may occasionally cause mild photophobia,
DE   patients are typically asymptomatic and have normal vision.
SY   Corneal dystrophy Francois-Neetens speckled or flecked.
SY   FCD.
SY   Fleck corneal dystrophy.
DR   MIM; 121850; phenotype.
DR   MedGen; C1562113.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Fuchs endothelial, 1.
AC   DI-01636
AR   FECD1.
DE   A corneal disease caused by loss of endothelium of the central cornea.
DE   It is characterized by focal wart-like guttata that arise from
DE   Descemet membrane and develop in the central cornea, epithelial
DE   blisters, reduced vision and pain. Descemet membrane is thickened by
DE   abnormal collagenous deposition.
SY   Corneal dystrophy Fuchs endothelial early-onset.
SY   Fuchs dystrophy.
DR   MIM; 136800; phenotype.
DR   MedGen; C1850959.
DR   MeSH; D005642.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Fuchs endothelial, 3.
AC   DI-04548
AR   FECD3.
DE   A late-onset form of Fuchs endothelial corneal dystrophy, a disease
DE   caused by loss of endothelium of the central cornea. It is
DE   characterized by focal wart-like guttata that arise from Descemet
DE   membrane and develop in the central cornea, epithelial blisters,
DE   reduced vision and pain. Descemet membrane is thickened by abnormal
DE   collagenous deposition.
SY   Fuchs endothelial corneal dystrophy, late-onset.
DR   MIM; 613267; phenotype.
DR   MedGen; C2750451.
DR   MeSH; D005642.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Fuchs endothelial, 4.
AC   DI-02765
AR   FECD4.
DE   A corneal disease caused by loss of endothelium of the central cornea.
DE   It is characterized by focal wart-like guttata that arise from
DE   Descemet membrane and develop in the central cornea, epithelial
DE   blisters, reduced vision and pain. Descemet membrane is thickened by
DE   abnormal collagenous deposition.
SY   Corneal dystrophy Fuchs endothelial late-onset.
SY   Fuchs dystrophy late-onset.
DR   MIM; 613268; phenotype.
DR   MedGen; C2750450.
DR   MeSH; D005642.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Fuchs endothelial, 6.
AC   DI-02766
AR   FECD6.
DE   A corneal disease caused by loss of endothelium of the central cornea.
DE   It is characterized by focal wart-like guttata that arise from
DE   Descemet membrane and develop in the central cornea, epithelial
DE   blisters, reduced vision and pain. Descemet membrane is thickened by
DE   abnormal collagenous deposition.
SY   Corneal dystrophy Fuchs endothelial late-onset.
SY   Fuchs dystrophy late-onset.
DR   MIM; 613270; phenotype.
DR   MedGen; C2750448.
DR   MeSH; D005642.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Fuchs endothelial, 8.
AC   DI-03947
AR   FECD8.
DE   A corneal disease caused by loss of endothelium of the central cornea.
DE   It is characterized by focal wart-like guttata that arise from
DE   Descemet membrane and develop in the central cornea, epithelial
DE   blisters, reduced vision and pain. Descemet membrane is thickened by
DE   abnormal collagenous deposition.
DR   MIM; 615523; phenotype.
DR   MedGen; C3809798.
DR   MedGen; CN181446.
DR   MeSH; D005642.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, gelatinous drop-like.
AC   DI-01651
AR   GDLD.
DE   A form of lattice corneal dystrophy, a class of inherited stromal
DE   amyloidoses characterized by pathognomonic branching lattice figures
DE   in the cornea. GDLD is an autosomal recessive disorder characterized
DE   by severe corneal amyloidosis leading to blindness. Clinical
DE   manifestations, which appear in the first decade of life, include
DE   blurred vision, photophobia, and foreign-body sensation. By the third
DE   decade, raised, yellowish-gray, gelatinous masses severely impair
DE   visual acuity.
SY   Amyloid corneal dystrophy Japanese type.
SY   CDGDL.
SY   Corneal amyloidosis.
SY   Lattice corneal dystrophy type III.
DR   MIM; 204870; phenotype.
DR   MedGen; C0339273.
DR   MeSH; D003317.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Groenouw type 1.
AC   DI-01427
AR   CDGG1.
DE   A rare form of stromal corneal dystrophy characterized by multiple
DE   small deposits in the superficial central corneal stroma, and
DE   progressive visual impairment.
SY   Corneal dystrophy Groenouw type I.
SY   GCD1.
SY   Granular corneal dystrophy type I.
SY   MeSH; D003317.
SY   Punctate or nodular corneal dystrophy.
DR   MIM; 121900; phenotype.
DR   MedGen; C1641846.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, lattice type 1.
AC   DI-01428
AR   CDL1.
DE   A form of lattice corneal dystrophy, a class of inherited stromal
DE   amyloidoses characterized by pathognomonic branching lattice figures
DE   in the cornea. CDL1 is characterized by progressive visual impairment,
DE   and the presence of delicate, double-contoured, interdigitating,
DE   elongated deposits that form a reticular pattern in the corneal
DE   stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration
DE   sometimes occurs.
SY   Corneal dystrophy lattice type I.
SY   Lattice corneal dystrophy type I.
SY   LCD.
SY   LCD1.
DR   MIM; 122200; phenotype.
DR   MedGen; C1690006.
DR   MeSH; D003317.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, lattice type 3A.
AC   DI-01882
AR   CDL3A.
DE   A form of lattice corneal dystrophy, a class of inherited stromal
DE   amyloidoses characterized by pathognomonic branching lattice figures
DE   in the cornea. CDL3A is characterized by decreased visual acuity, and
DE   the presence of thick, ropy branching lattice lines and accumulations
DE   of amyloid deposits in the corneal stroma. Systemic amyloidosis is
DE   absent. CDL3A clinically resembles to lattice corneal dystrophy type
DE   3, but differs in that its age of onset is 70 to 90 years. It has an
DE   autosomal dominant inheritance pattern.
SY   Lattice corneal dystrophy type IIIA.
DR   MIM; 608471; phenotype.
DR   MedGen; C1837974.
DR   MeSH; D003317.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Meesmann 1.
AC   DI-01959
AR   MECD1.
DE   A form of Meesmann corneal dystrophy, a corneal disease characterized
DE   by fragility of the anterior corneal epithelium. Histological
DE   examination shows a disorganized and thickened epithelium with
DE   widespread cytoplasmic vacuolation and numerous small, round, debris-
DE   laden intraepithelial cysts. Patients are usually asymptomatic until
DE   adulthood when rupture of the corneal microcysts may cause erosions,
DE   producing clinical symptoms such as photophobia, contact lens
DE   intolerance and intermittent diminution of visual acuity. Rarely,
DE   subepithelial scarring causes irregular corneal astigmatism and
DE   permanent visual impairment. MECD1 inheritance is autosomal dominant.
SY   Corneal dystrophy, Meesmann epithelial.
SY   Juvenile epithelial corneal dystrophy of Meesmann.
SY   MCD.
SY   MECD.
SY   Meesmann corneal dystrophy.
SY   Meesmann epithelial corneal dystrophy.
DR   MIM; 122100; phenotype.
DR   MedGen; C0339277.
DR   MeSH; D053559.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Meesmann 2.
AC   DI-05754
AR   MECD2.
DE   A form of Meesmann corneal dystrophy, a corneal disease characterized
DE   by fragility of the anterior corneal epithelium. Histological
DE   examination shows a disorganized and thickened epithelium with
DE   widespread cytoplasmic vacuolation and numerous small, round, debris-
DE   laden intraepithelial cysts. Patients are usually asymptomatic until
DE   adulthood when rupture of the corneal microcysts may cause erosions,
DE   producing clinical symptoms such as photophobia, contact lens
DE   intolerance and intermittent diminution of visual acuity. Rarely,
DE   subepithelial scarring causes irregular corneal astigmatism and
DE   permanent visual impairment. MECD2 inheritance is autosomal dominant.
DR   MIM; 618767; phenotype.
DR   MedGen; CN263246.
DR   MeSH; D053559.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, posterior polymorphous, 1.
AC   DI-02640
AR   PPCD1.
DE   A rare corneal disorder characterized by small aggregates of apparent
DE   vesicles bordered by a gray haze at the level of Descemet membrane, an
DE   altered corneal endothelial cell structure, and an unusual
DE   proliferation of endothelial cells. Symptoms can range from very
DE   aggressive to asymptomatic and non-progressive, even within the same
DE   family.
SY   CHED1.
SY   Corneal endothelial dystrophy 1, autosomal dominant.
SY   Hereditary polymorphous posterior corneal dystrophy.
SY   Maumenee corneal dystrophy.
SY   PPCD.
DR   MIM; 122000; phenotype.
DR   MedGen; C0339284.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, posterior polymorphous, 2.
AC   DI-02185
AR   PPCD2.
DE   A rare mild subtype of posterior corneal dystrophy characterized by
DE   alterations of Descemet membrane presenting as vesicles, opacities or
DE   band-like lesions on slit-lamp examination and specular microscopy.
DE   Affected patient typically are asymptomatic.
DR   MIM; 609140; phenotype.
DR   MedGen; C1852795.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, posterior polymorphous, 3.
AC   DI-02186
AR   PPCD3.
DE   A subtype of posterior corneal dystrophy, a disease characterized by
DE   alterations of Descemet membrane presenting as vesicles, opacities or
DE   band-like lesions on slit-lamp examination and specular microscopy.
DE   Affected patient typically are asymptomatic.
DR   MIM; 609141; phenotype.
DR   MedGen; C1836724.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, posterior polymorphous, 4.
AC   DI-05267
AR   PPCD4.
DE   A subtype of posterior corneal dystrophy, a disease characterized by
DE   alterations of Descemet membrane presenting as vesicles, opacities or
DE   band-like lesions on slit-lamp examination and specular microscopy. In
DE   severe cases, corneal endothelial failure may occur and corneal
DE   transplantation is required to restore vision. Secondary complications
DE   are common and include corneal edema, glaucoma, iris adherence to the
DE   cornea, and corectopia. PPCD4 transmission pattern is consistent with
DE   autosomal dominant inheritance.
DR   MIM; 618031; phenotype.
DR   MedGen; CN248531.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, punctiform and polychromatic pre-Descemet.
AC   DI-06421
AR   PPPCD.
DE   An autosomal dominant corneal dystrophy characterized by the presence
DE   of punctiform, multicolored opacities in the posterior stroma,
DE   immediately anterior to Descemet membrane. Affected individuals are
DE   typically asymptomatic.
DR   MIM; 619871; phenotype.
DR   MedGen; CN312029.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Reis-Bucklers type.
AC   DI-02252
AR   CDRB.
DE   A bilateral disorder of the cornea characterized by intermittent
DE   attacks of ocular irritation, recurrent painful corneal erosions
DE   starting in childhood, corneal opacities in a geographic pattern at
DE   the level of the Bowman layer, and a progressive decrease of visual
DE   acuity. The lesions are primarily in Bowman membrane with secondary
DE   involvement of the epithelium and superficial part of the stroma.
DE   Bowman membrane is almost completely replaced by pathologic materials
DE   including disoriented collagen fibrils.
SY   CDB1.
SY   Corneal dystrophy of Bowman layer type I.
SY   Geographic corneal dystrophy.
SY   Granular corneal dystrophy type III.
SY   RBCD.
SY   Reis-Bucklers corneal dystrophy.
DR   MIM; 608470; phenotype.
DR   MedGen; C0339278.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Schnyder type.
AC   DI-01457
AR   SCCD.
DE   A form of stromal corneal dystrophy characterized by corneal clouding,
DE   resulting from abnormal deposition of cholesterol and phospholipids,
DE   and decreased visual acuity. Typically, ring-shaped yellow-white
DE   opacities composed of innumerable fine needle-shaped crystals form in
DE   Bowman layer and the adjacent anterior stroma of the central cornea.
DE   The crystals usually remain in the anterior third of the cornea. The
DE   corneal epithelium and endothelium as well as Descemet membrane are
DE   spared.
SY   SCD.
SY   Schnyder corneal dystrophy.
SY   Schnyder crystalline corneal dystrophy.
DR   MIM; 121800; phenotype.
DR   MedGen; C0271287.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Thiel-Behnke type.
AC   DI-01429
AR   CDTB.
DE   A bilateral disorder of the cornea characterized by progressive
DE   honeycomb-like, subepithelial corneal opacities with recurrent
DE   erosions.
SY   CDB2.
SY   Corneal dystrophy of Bowman layer type II.
SY   Honeycomb-shaped corneal dystrophy.
SY   TBCD.
SY   Thiel-Behnke corneal dystrophy.
DR   MIM; 602082; phenotype.
DR   MedGen; C1562894.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal endothelial dystrophy.
AC   DI-01430
AR   CHED.
DE   A congenital corneal dystrophy characterized by thickening and
DE   opacification of the cornea, altered morphology of the endothelium,
DE   and secretion of an abnormal collagenous layer at the Descemet
DE   membrane.
SY   CHED2.
SY   Congenital hereditary endothelial corneal dystrophy.
SY   Congenital hereditary endothelial dystrophy of cornea.
SY   Corneal endothelial dystrophy 2, autosomal recessive.
SY   Maumenee corneal dystrophy.
DR   MIM; 217700; phenotype.
DR   MedGen; C1857569.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Cornelia de Lange syndrome 1.
AC   DI-00379
AR   CDLS1.
DE   A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE   developmental disorder associated with malformations affecting
DE   multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE   and feet, growth delay, cognitive retardation, hirsutism,
DE   gastroesophageal dysfunction and cardiac, ophthalmologic and
DE   genitourinary anomalies.
SY   Amstelodamensis typus degenerativus.
DR   MIM; 122470; phenotype.
DR   MedGen; C0270972.
DR   MedGen; CN029798.
DR   MeSH; D003635.
KW   KW-0991:Intellectual disability.
//
ID   Cornelia de Lange syndrome 2.
AC   DI-00380
AR   CDLS2.
DE   A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE   developmental disorder associated with malformations affecting
DE   multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE   and feet, growth delay, cognitive retardation, hirsutism,
DE   gastroesophageal dysfunction and cardiac, ophthalmologic and
DE   genitourinary anomalies.
SY   Cornelia de Lange syndrome X-linked.
DR   MIM; 300590; phenotype.
DR   MedGen; C1802395.
DR   MeSH; D003635.
KW   KW-0991:Intellectual disability.
//
ID   Cornelia de Lange syndrome 3 with or without midline brain defects.
AC   DI-01432
AR   CDLS3.
DE   A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE   developmental disorder associated with malformations affecting
DE   multiple systems. Characterized by facial dysmorphisms, abnormal hands
DE   and feet, growth delay, cognitive retardation, hirsutism,
DE   gastroesophageal dysfunction and cardiac, ophthalmologic and
DE   genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild
DE   form with absence of major structural anomalies. The phenotype in some
DE   instances approaches that of apparently non-syndromic intellectual
DE   disability.
DR   MIM; 610759; phenotype.
DR   MedGen; C1853099.
DR   MeSH; D003635.
KW   KW-0991:Intellectual disability.
//
ID   Cornelia de Lange syndrome 4 with or without midline brain defects.
AC   DI-03491
AR   CDLS4.
DE   A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE   developmental disorder associated with malformations affecting
DE   multiple systems. It is characterized by facial dysmorphisms, abnormal
DE   hands and feet, growth delay, cognitive retardation, hirsutism,
DE   gastroesophageal dysfunction and cardiac, ophthalmologic and
DE   genitourinary anomalies.
DR   MIM; 614701; phenotype.
DR   MedGen; C3553517.
DR   MedGen; CN130277.
DR   MeSH; D003635.
KW   KW-0991:Intellectual disability.
//
ID   Cornelia de Lange syndrome 5.
AC   DI-03541
AR   CDLS5.
DE   A form of Cornelia de Lange syndrome, a clinically heterogeneous
DE   developmental disorder associated with malformations affecting
DE   multiple systems. It is characterized by facial dysmorphisms, abnormal
DE   hands and feet, growth delay, cognitive retardation, hirsutism,
DE   gastroesophageal dysfunction and cardiac, ophthalmologic and
DE   genitourinary anomalies.
DR   MIM; 300882; phenotype.
DR   MedGen; C3550903.
DR   MedGen; CN159225.
DR   MeSH; D003635.
KW   KW-0991:Intellectual disability.
//
ID   Coronary artery disease.
AC   DI-04956
AR   CAD.
DE   A common heart disease characterized by reduced or absent blood flow
DE   in one or more of the arteries that encircle and supply the heart. Its
DE   most important complication is acute myocardial infarction.
SY   Coronary artery disease, severe.
DR   MIM; 617347; phenotype.
DR   MedGen; C0020479.
DR   MeSH; D003324.
//
ID   Coronary artery disease, autosomal dominant, 1.
AC   DI-01202
AR   ADCAD1.
DE   A common heart disease characterized by reduced or absent blood flow
DE   in one or more of the arteries that encircle and supply the heart. Its
DE   most important complication is acute myocardial infarction.
SY   Coronary artery disease with myocardial infarction.
DR   MIM; 608320; phenotype.
DR   MedGen; C1842247.
DR   MeSH; D003324.
//
ID   Coronary artery disease, autosomal dominant, 2.
AC   DI-01203
AR   ADCAD2.
DE   A common heart disease characterized by reduced or absent blood flow
DE   in one or more of the arteries that encircle and supply the heart. Its
DE   most important complication is acute myocardial infarction.
DR   MIM; 610947; phenotype.
DR   MedGen; C1970440.
DR   MeSH; D003324.
//
ID   Coronary heart disease 5.
AC   DI-02840
AR   CHDS5.
DE   A multifactorial disease characterized by an imbalance between
DE   myocardial functional requirements and the capacity of the coronary
DE   vessels to supply sufficient blood flow. Decreased capacity of the
DE   coronary vessels is often associated with thickening and loss of
DE   elasticity of the coronary arteries.
SY   Coronary artery disease early-onset.
DR   MIM; 608901; phenotype.
DR   MedGen; C1837173.
DR   MeSH; D003324.
//
ID   Coronary heart disease 6.
AC   DI-03346
AR   CHDS6.
DE   A multifactorial disease characterized by an imbalance between
DE   myocardial functional requirements and the capacity of the coronary
DE   vessels to supply sufficient blood flow. Decreased capacity of the
DE   coronary vessels is often associated with thickening and loss of
DE   elasticity of the coronary arteries.
DR   MIM; 614466; phenotype.
DR   MedGen; C3280913.
DR   MeSH; D003324.
//
ID   Coronary heart disease 7.
AC   DI-02841
AR   CHDS7.
DE   A multifactorial disease characterized by an imbalance between
DE   myocardial functional requirements and the capacity of the coronary
DE   vessels to supply sufficient blood flow. Decreased capacity of the
DE   coronary vessels is often associated with thickening and loss of
DE   elasticity of the coronary arteries.
DR   MIM; 610938; phenotype.
DR   MedGen; C1970441.
DR   MeSH; D003327.
//
ID   Cortical dysplasia, complex, with other brain malformations 1.
AC   DI-03150
AR   CDCBM1.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Affected individuals have mild to severe intellectual
DE   disability, strabismus, axial hypotonia, and spasticity. Brain imaging
DE   shows variable malformations of cortical development, including
DE   polymicrogyria, gyral disorganization, and fusion of the basal
DE   ganglia, as well as thin corpus callosum, hypoplastic brainstem, and
DE   dysplastic cerebellar vermis. Extraocular muscles are not involved.
DR   MIM; 614039; phenotype.
DR   MedGen; C3279670.
DR   MeSH; D054081.
KW   KW-0991:Intellectual disability.
//
ID   Cortical dysplasia, complex, with other brain malformations 10.
AC   DI-05688
AR   CDCBM10.
DE   An autosomal recessive disorder of aberrant neuronal migration during
DE   brain development. CDCBM10 is clinically characterized by onset in
DE   infancy of global developmental delay, impaired intellectual
DE   development, seizures, inability to ambulate, and absent language.
DE   Brain imaging shows lissencephaly, cortical dysplasia, subcortical
DE   heterotopia, and paucity of white matter.
DR   MIM; 618677; phenotype.
DR   MedGen; CN262902.
DR   MeSH; D054220.
KW   KW-0451:Lissencephaly.
KW   KW-0991:Intellectual disability.
//
ID   Cortical dysplasia, complex, with other brain malformations 11.
AC   DI-06564
AR   CDCBM11.
DE   An autosomal recessive disorder of aberrant neuronal migration during
DE   brain development. CDCBM11 is characterized by dilated ventricles and
DE   reduced white matter, and is associated with axonal developmental
DE   defects.
DR   MIM; 620156; phenotype.
DR   MedGen; CN322567.
DR   MeSH; D054220.
//
ID   Cortical dysplasia, complex, with other brain malformations 12.
AC   DI-06642
AR   CDCBM12.
DE   An autosomal recessive disorder of aberrant neuronal migration during
DE   brain development. CDCBM12 is characterized by severe to profound
DE   neurodevelopmental delay, microcephaly, cortical visual impairment,
DE   craniofacial dysmorphism, and seizures. Brain imaging shows
DE   lissencephaly, severe hypoplasia or absence of the corpus callosum,
DE   cerebellar hypodysplasia, and dysplasia of the basal ganglia,
DE   hippocampus and midbrain.
DR   MIM; 620316; phenotype.
DR   MedGen; CN324006.
DR   MeSH; D054220.
KW   KW-0451:Lissencephaly.
KW   KW-0991:Intellectual disability.
//
ID   Cortical dysplasia, complex, with other brain malformations 13.
AC   DI-03425
AR   CDCBM13.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay with impaired intellectual development. Some patients show signs
DE   of peripheral neuropathy, such as abnormal gait and hyporeflexia.
DE   CDCBM13 is associated with variable neuronal migration defects
DE   resulting in cortical malformations.
SY   Intellectual developmental disorder, autosomal dominant 13.
SY   MRD13.
DR   MIM; 614563; phenotype.
DR   MedGen; C3281202.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal).
AC   DI-01281
AR   CDCBM14A.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay with impaired intellectual development, motor delay, poor
DE   speech, cerebellar and pyramidal signs, truncal ataxia, and early-
DE   onset seizures. Brain imaging shows bilateral frontoparietal
DE   polymicrogyria, a malformation of the cortex in which the brain
DE   surface is irregular and characterized by an excessive number of small
DE   gyri with abnormal lamination. Polymicrogyria is considered to be the
DE   result of postmigratory abnormal cortical organization.
SY   BFPP.
SY   Cerebellar ataxia with neuronal migration defect.
SY   Polymicrogyria, bilateral frontoparietal.
DR   MIM; 606854; phenotype.
DR   MedGen; C1847352.
DR   MeSH; D054220.
//
ID   Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian).
AC   DI-04104
AR   CDCBM14B.
DE   An autosomal recessive disorder characterized by strikingly restricted
DE   polymicrogyria limited to the cortex surrounding the Sylvian fissure.
DE   Affected individuals have intellectual and language difficulty and
DE   seizures, but no motor disability. Polymicrogyria is a malformation of
DE   the cortex in which the brain surface is irregular and characterized
DE   by an excessive number of small gyri with abnormal lamination. It is
DE   considered to be the result of postmigratory abnormal cortical
DE   organization.
SY   BPPR.
SY   PMGR.
SY   Polymicrogyria, bilateral perisylvian, autosomal recessive.
DR   MIM; 615752; phenotype.
DR   MedGen; C3810405.
DR   MedGen; CN186195.
DR   MeSH; D054220.
//
ID   Cortical dysplasia, complex, with other brain malformations 15.
AC   DI-05737
AR   CDCBM15.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, variably impaired intellectual development, speech delay,
DE   facial dysmorphism, microcephaly, and varying degrees of cortical
DE   malformations including pachygyria, thin corpus callosum and
DE   subcortical band heterotopia. Most patients have generalized seizures.
SY   Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures.
SY   PAMDDFS.
DR   MIM; 618737; phenotype.
DR   MedGen; CN263169.
DR   MeSH; D008607.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Cortical dysplasia, complex, with other brain malformations 2.
AC   DI-03883
AR   CDCBM2.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Clinical features include intrauterine growth retardation,
DE   fetal akinesia, seizures, microcephaly, lack of psychomotor
DE   development, and arthrogryposis. Brain imaging shows malformations of
DE   cortical development, including polymicrogyria, gyral simplification,
DE   and thin corpus callosum.
DR   MIM; 615282; phenotype.
DR   MedGen; C3809013.
DR   MedGen; CN180044.
DR   MeSH; D054081.
//
ID   Cortical dysplasia, complex, with other brain malformations 3.
AC   DI-03884
AR   CDCBM3.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Clinical features include early-onset epilepsy, and various
DE   malformations of cortical development such as agyria, posterior or
DE   frontal pachygyria, subcortical band heterotopia, and thin corpus
DE   callosum.
DR   MIM; 615411; phenotype.
DR   MedGen; C3809414.
DR   MedGen; CN180045.
DR   MeSH; D054081.
KW   KW-0451:Lissencephaly.
//
ID   Cortical dysplasia, complex, with other brain malformations 4.
AC   DI-03885
AR   CDCBM4.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Clinical features include early-onset seizures,
DE   microcephaly, spastic tetraplegia, and various malformations of
DE   cortical development, such as agyria, posterior or frontal pachygyria,
DE   thick cortex, and subcortical band heterotopia and thin corpus
DE   callosum in some patients.
DR   MIM; 615412; phenotype.
DR   MedGen; C3809420.
DR   MedGen; CN180046.
DR   MeSH; D054081.
KW   KW-0451:Lissencephaly.
//
ID   Cortical dysplasia, complex, with other brain malformations 5.
AC   DI-04097
AR   CDCBM5.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Clinical features include seizures, global developmental
DE   delay, and various brain malformations such as a diffuse simplified
DE   gyral pattern with reduced volume of white matter, globular basal
DE   ganglia, thin and dysmorphic corpus callosum, mild brainstem
DE   hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and
DE   mildly enlarged posterior fossa.
DR   MIM; 615763; phenotype.
DR   MedGen; C3810407.
DR   MedGen; CN186201.
DR   MeSH; D054081.
//
ID   Cortical dysplasia, complex, with other brain malformations 6.
AC   DI-04083
AR   CDCBM6.
DE   A disorder of aberrant neuronal migration and disturbed axonal
DE   guidance. Affected individuals have microcephaly, ataxia, and severe
DE   delayed psychomotor development. Brain imaging shows variable
DE   malformations of cortical development, including white matter streaks,
DE   dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and
DE   cerebellar hypoplasia, cortical dysplasia, polymicrogyria.
DR   MIM; 615771; phenotype.
DR   MedGen; CN186681.
DR   MeSH; D054081.
//
ID   Cortical dysplasia, complex, with other brain malformations 7.
AC   DI-02622
AR   CDCBM7.
DE   A malformation of the cortex in which the brain surface is irregular
DE   and characterized by an excessive number of small gyri with abnormal
DE   lamination. Polymicrogyria is a heterogeneous disorder, considered to
DE   be the result of postmigratory abnormal cortical organization.
SY   PMGYSA.
SY   Polymicrogyria, symmetric or asymmetric.
DR   MIM; 610031; phenotype.
DR   MedGen; C2750247.
DR   MedGen; C3552236.
DR   MeSH; D054220.
//
ID   Cortical dysplasia, complex, with other brain malformations 9.
AC   DI-05375
AR   CDCBM9.
DE   An autosomal recessive disorder characterized by neurodevelopmental
DE   delay apparent from early infancy, acquired microcephaly, hypotonic
DE   cerebral palsy, inability to ambulate or speak, and intractable
DE   seizures. Brain imaging shows pachygyria with severe cortical gray
DE   matter thickening, paucity of gyri without an obvious posterior-
DE   anterior gradient or focal dysplasias, hypogenesis of the corpus
DE   callosum, and cerebellar hypoplasia.
DR   MIM; 618174; phenotype.
DR   MedGen; CN257774.
DR   MeSH; D054220.
KW   KW-0451:Lissencephaly.
//
ID   Cortical dysplasia-focal epilepsy syndrome.
AC   DI-00381
AR   CDFES.
DE   A disease characterized by cortical dysplasia, focal epilepsy,
DE   relative macrocephaly, and diminished deep-tendon reflexes.
DE   Intractable focal seizures begin in early childhood, after which
DE   language regression, hyperactivity, impulsive and aggressive behavior,
DE   and intellectual disability develop.
DR   MIM; 610042; phenotype.
DR   MedGen; C1864887.
DR   MeSH; D054220.
KW   KW-0887:Epilepsy.
//
ID   Cortical malformations occipital.
AC   DI-03207
AR   OCCM.
DE   A disease in which affected individuals develop seizures, sometimes
DE   associated with transient visual changes. Brain MRI shows both
DE   pachygyria and polymicrogyria restricted to the lateral occipital
DE   lobes.
DR   MIM; 614115; phenotype.
DR   MedGen; C3279875.
DR   MeSH; D054220.
//
ID   Corticosteroid-binding globulin deficiency.
AC   DI-01433
AR   CBG deficiency.
DE   Extremely rare hereditary disorder characterized by reduced
DE   corticosteroid-binding capacity with normal or low plasma
DE   corticosteroid-binding globulin concentration, and normal or low basal
DE   cortisol levels associated with hypo/hypertension and muscle fatigue.
DR   MIM; 611489; phenotype.
DR   MedGen; C1852529.
DR   MedGen; C1969107.
//
ID   Corticosterone methyloxidase 1 deficiency.
AC   DI-01434
AR   CMO-1 deficiency.
DE   Autosomal recessive disorder of aldosterone biosynthesis. There are
DE   two biochemically different forms of selective aldosterone deficiency
DE   be termed corticosterone methyloxidase (CMO) deficiency type 1 and
DE   type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma,
DE   while its immediate precursor, 18-hydroxycorticosterone, is low or
DE   normal.
SY   Aldosterone deficiency due to defect in 18-hydroxylase.
SY   Aldosterone deficiency I.
DR   MIM; 203400; phenotype.
DR   MedGen; CN074214.
//
ID   Corticosterone methyloxidase 2 deficiency.
AC   DI-01435
AR   CMO-2 deficiency.
DE   Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2
DE   deficiency, aldosterone can be low or normal, but at the expense of
DE   increased secretion of 18-hydroxycorticosterone. Consequently,
DE   patients have a greatly increased ratio of 18-hydroxycorticosterone to
DE   aldosterone and a low ratio of corticosterone to 18-
DE   hydroxycorticosterone in serum.
DR   MIM; 610600; phenotype.
DR   MedGen; C3463917.
DR   MedGen; CN074247.
//
ID   Cortisone reductase deficiency 1.
AC   DI-01436
AR   CORTRD1.
DE   An autosomal recessive error of cortisone metabolism characterized by
DE   a failure to regenerate cortisol from cortisone, resulting in
DE   increased cortisol clearance, activation of the hypothalamic-pituitary
DE   axis and ACTH-mediated adrenal androgen excess. Clinical features
DE   include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and
DE   infertility in females and premature pseudopuberty in males.
DR   MIM; 604931; phenotype.
DR   MedGen; C3551716.
DR   MeSH; D008661.
//
ID   Cortisone reductase deficiency 2.
AC   DI-05184
AR   CORTRD2.
DE   An autosomal dominant error of cortisone metabolism characterized by a
DE   failure to regenerate cortisol from cortisone, resulting in increased
DE   cortisol clearance, activation of the hypothalamic- pituitary axis and
DE   ACTH-mediated adrenal androgen excess. Clinical features include
DE   hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and
DE   infertility in females and premature pseudopuberty in males.
DR   MIM; 614662; phenotype.
DR   MedGen; C1291245.
DR   MeSH; D008661.
//
ID   Costello syndrome.
AC   DI-01437
AR   CSTLO.
DE   A rare condition characterized by prenatally increased growth,
DE   postnatal growth deficiency, intellectual disability, distinctive
DE   facial appearance, cardiovascular abnormalities (typically pulmonic
DE   stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia),
DE   tumor predisposition, skin and musculoskeletal abnormalities.
SY   Faciocutaneoskeletal syndrome.
SY   FCSS.
SY   FCS syndrome.
DR   MIM; 218040; phenotype.
DR   MedGen; C0587248.
DR   MeSH; D056685.
//
ID   Coumarin resistance.
AC   DI-01438
AR   CMRES.
DE   A condition characterized by partial or complete resistance to
DE   warfarin or other 4-hydroxycoumarin derivatives. These drugs are used
DE   as anti-coagulants for the prevention of thromboembolic diseases in
DE   subjects with deep vein thrombosis, atrial fibrillation, or mechanical
DE   heart valve replacement.
SY   Poor metabolism of coumarin.
SY   Warfarin resistance.
DR   MIM; 122700; phenotype.
DR   MedGen; C0750384.
DR   MedGen; C2608079.
DR   MedGen; C2675747.
DR   MedGen; CN078029.
DR   MeSH; D004351.
//
ID   Cousin syndrome.
AC   DI-01439
AR   COUSS.
DE   Defined as pelviscapular dysplasia with epiphyseal abnormalities,
DE   congenital dwarfism and facial dysmorphy (frontal bossing,
DE   hypertelorism, narrow palpebral fissures, deep set globes, strabismus,
DE   low-set posteriory rotated and unusually formed external ears,
DE   dysplasia of conchae, small chin, short neck with redundant skin
DE   folds, and a low hairline). Intelligence may vary from normal to
DE   moderately impaired. Radiographic features comprise aplasia of the
DE   body of the scapula, hypoplasia of the iliac bone, humeroradial
DE   synosthosis, dislocation of the femoral heads, and moderate
DE   brachydactyly.
SY   Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature.
DR   MIM; 260660; phenotype.
DR   MedGen; C1850040.
//
ID   Cowden syndrome 1.
AC   DI-01440
AR   CWS1.
DE   An autosomal dominant hamartomatous polyposis syndrome with age-
DE   related penetrance. Cowden syndrome is characterized by hamartomatous
DE   lesions affecting derivatives of ectodermal, mesodermal and endodermal
DE   layers, macrocephaly, facial trichilemmomas (benign tumors of the hair
DE   follicle infundibulum), acral keratoses, papillomatous papules, and
DE   elevated risk for development of several types of malignancy,
DE   particularly breast carcinoma in women and thyroid carcinoma in both
DE   men and women. Colon cancer and renal cell carcinoma have also been
DE   reported. Hamartomas can be found in virtually every organ, but most
DE   commonly in the skin, gastrointestinal tract, breast and thyroid.
SY   Bannayan-Riley-Ruvalcaba syndrome.
SY   Bannayan-Ruvalcaba-Riley syndrome.
SY   Bannayan-Zonana syndrome.
SY   BZS.
SY   CD.
SY   Cowden disease.
SY   CS.
SY   Macrocephaly multiple lipomas and hemangiomata.
SY   Macrocephaly pseudopapilledema and multiple hemangiomata.
SY   MHAM.
SY   Multiple hamartoma syndrome.
SY   PHTS.
SY   PTEN hamartoma tumor syndrome.
SY   Riley-Smith syndrome.
SY   RMSS.
SY   Ruvalcaba-Myhre-Smith syndrome.
DR   MIM; 158350; phenotype.
DR   MedGen; C0018553.
DR   MeSH; D006223.
//
ID   Cowden syndrome 4.
AC   DI-03695
AR   CWS4.
DE   A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE   age-related penetrance. Cowden syndrome is characterized by
DE   hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE   and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE   tumors of the hair follicle infundibulum), acral keratoses,
DE   papillomatous papules, and elevated risk for development of several
DE   types of malignancy, particularly breast carcinoma in women and
DE   thyroid carcinoma in both men and women. Colon cancer and renal cell
DE   carcinoma have also been reported. Hamartomas can be found in
DE   virtually every organ, but most commonly in the skin, gastrointestinal
DE   tract, breast and thyroid.
DR   MIM; 615107; phenotype.
DR   MedGen; C3554517.
DR   MedGen; CN166605.
DR   MeSH; D006223.
//
ID   Cowden syndrome 5.
AC   DI-03696
AR   CWS5.
DE   A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE   age-related penetrance. Cowden syndrome is characterized by
DE   hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE   and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE   tumors of the hair follicle infundibulum), acral keratoses,
DE   papillomatous papules, and elevated risk for development of several
DE   types of malignancy, particularly breast carcinoma in women and
DE   thyroid carcinoma in both men and women. Colon cancer and renal cell
DE   carcinoma have also been reported. Hamartomas can be found in
DE   virtually every organ, but most commonly in the skin, gastrointestinal
DE   tract, breast and thyroid.
DR   MIM; 615108; phenotype.
DR   MedGen; C3554518.
DR   MedGen; CN166606.
DR   MeSH; D006223.
//
ID   Cowden syndrome 6.
AC   DI-03697
AR   CWS6.
DE   A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE   age-related penetrance. Cowden syndrome is characterized by
DE   hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE   and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE   tumors of the hair follicle infundibulum), acral keratoses,
DE   papillomatous papules, and elevated risk for development of several
DE   types of malignancy, particularly breast carcinoma in women and
DE   thyroid carcinoma in both men and women. Colon cancer and renal cell
DE   carcinoma have also been reported. Hamartomas can be found in
DE   virtually every organ, but most commonly in the skin, gastrointestinal
DE   tract, breast and thyroid.
DR   MIM; 615109; phenotype.
DR   MedGen; C3554519.
DR   MedGen; CN166607.
DR   MeSH; D006223.
//
ID   Cowden syndrome 7.
AC   DI-04679
AR   CWS7.
DE   A form of Cowden syndrome, a hamartomatous polyposis syndrome with
DE   age-related penetrance. Cowden syndrome is characterized by
DE   hamartomatous lesions affecting derivatives of ectodermal, mesodermal
DE   and endodermal layers, macrocephaly, facial trichilemmomas (benign
DE   tumors of the hair follicle infundibulum), acral keratoses,
DE   papillomatous papules, and elevated risk for development of several
DE   types of malignancy, particularly breast carcinoma in women and
DE   thyroid carcinoma in both men and women. Colon cancer and renal cell
DE   carcinoma have also been reported. Hamartomas can be found in
DE   virtually every organ, but most commonly in the skin, gastrointestinal
DE   tract, breast and thyroid. CWS7 inheritance is autosomal dominant.
DR   MIM; 616858; phenotype.
DR   MedGen; CN235533.
DR   MeSH; D006223.
//
ID   Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay.
AC   DI-06742
AR   CCDDRD.
DE   An autosomal recessive form of congenital cranial dysinnervation
DE   disorder. This term defines a heterogeneous group of
DE   neurodevelopmental disorders caused by a primary disturbance of
DE   innervation due to deficient, absent, or misguided cranial nerves.
DE   CCDDRD is characterized by developmental delay, corneal opacity,
DE   absent corneal reflex, expressionless face with asymmetry,
DE   sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral
DE   agenesis or severe hypoplasia of the VIII nerve with marked atresia of
DE   the internal auditory canals and cochlear labyrinth malformation.
DE   Additional features include hypotonia, impaired intellectual
DE   development, and behavioral abnormalities.
DR   MIM; 620469; phenotype.
DR   MedGen; CN372703.
DR   MeSH; D000093922.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Craniodiaphyseal dysplasia autosomal dominant.
AC   DI-03135
AR   CDD.
DE   A severe bone dysplasia characterized by massive generalized
DE   hyperostosis and sclerosis, especially involving the skull and facial
DE   bones. The sclerosis is so severe that the resulting facial distortion
DE   is referred to as 'leontiasis ossea' (leonine faces) and the bone
DE   deposition results in progressive stenosis of craniofacial foramina.
DE   Respiratory obstruction due to choanal stenosis compromises the
DE   clinical outcomes of affected patients.
SY   Schaefer Stein Oshman syndrome.
DR   MIM; 122860; phenotype.
DR   MedGen; C2675746.
DR   MeSH; D000015.
DR   MeSH; D019465.
//
ID   Cranioectodermal dysplasia 1.
AC   DI-02715
AR   CED1.
DE   A disorder characterized by craniofacial, skeletal and ectodermal
DE   abnormalities. Clinical features include dolichocephaly (with or
DE   without sagittal suture synostosis), scaphocephaly, short stature,
DE   limb shortening, short ribs, narrow chest, brachydactyly, renal
DE   failure and hepatic fibrosis, small and abnormally shaped teeth,
DE   sparse hair, skin laxity and abnormal nails.
SY   Cranio-ectodermal dysplasia.
SY   Levin syndrome I.
SY   Sensenbrenner syndrome.
DR   MIM; 218330; phenotype.
DR   MedGen; C0432235.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
ID   Cranioectodermal dysplasia 2.
AC   DI-02916
AR   CED2.
DE   A disorder characterized by craniofacial, skeletal and ectodermal
DE   abnormalities. Clinical features include short stature,
DE   dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum,
DE   short limbs, brachydactyly, joint laxity, narrow palpebral fissures,
DE   telecanthus with hypertelorism, low-set simple ears, everted lower
DE   lip, and short neck. Teeth abnormalities include widely spaced,
DE   hypoplastic and fused teeth.
SY   Sensenbrenner syndrome 2.
DR   MIM; 613610; phenotype.
DR   MedGen; C3150874.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
ID   Cranioectodermal dysplasia 3.
AC   DI-03183
AR   CED3.
DE   A disorder primarily characterized by craniofacial, skeletal and
DE   ectodermal abnormalities. Clinical features include craniosynostosis,
DE   narrow rib cage, short limbs, brachydactyly, hypoplastic and widely
DE   spaced teeth, sparse hair, skin laxity and abnormal nails.
DE   Nephronophthisis leading to progressive renal failure, hepatic
DE   fibrosis, heart defects, and retinitis pigmentosa have also been
DE   described.
SY   Sensenbrenner syndrome 3.
DR   MIM; 614099; phenotype.
DR   MedGen; C3279807.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
ID   Cranioectodermal dysplasia 4.
AC   DI-03327
AR   CED4.
DE   A disorder primarily characterized by craniofacial, skeletal and
DE   ectodermal abnormalities. Clinical features include craniosynostosis,
DE   narrow rib cage, short limbs, brachydactyly, hypoplastic and widely
DE   spaced teeth, sparse hair, skin laxity and abnormal nails.
DE   Nephronophthisis leading to progressive renal failure, hepatic
DE   fibrosis, heart defects, and retinitis pigmentosa have also been
DE   described.
SY   Sensenbrenner syndrome 4.
DR   MIM; 614378; phenotype.
DR   MedGen; C3280616.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
ID   Craniofacial anomalies and anterior segment dysgenesis syndrome.
AC   DI-03261
AR   CAASDS.
DE   A disorder with extremely variable expressivity. Clinical features
DE   include wide interpupillary distance, abnormal corneal endothelium,
DE   unusual pinnae, partially to completely empty sella turcica, posterior
DE   fossa cyst, anterior encephalocele, and/or hydrocephalus.
DR   MIM; 614195; phenotype.
DR   MedGen; C1857964.
DR   MedGen; C3280099.
DR   MeSH; D019465.
//
ID   Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1.
AC   DI-03178
AR   CFSMR1.
DE   An autosomal recessive disorder characterized by craniofacial and
DE   skeletal anomalies, associated with intellectual disability. Typical
DE   craniofacial dysmorphism include brachycephaly, highly arched bushy
DE   eyebrows, synophrys, long eyelashes, low-set ears, microdontism of
DE   primary teeth, and generalized gingival hyperplasia, whereas Sprengel
DE   deformity of scapula, fusion of spine, rib abnormities, pectus
DE   excavatum, and pes planus represent skeletal anomalies.
SY   Cerebrofaciothoracic dysplasia.
SY   Cerebro-facio-thoracic dysplasia.
SY   TMCO1 defect syndrome.
DR   MIM; 213980; phenotype.
DR   MedGen; C1859252.
DR   MeSH; D008607.
DR   MeSH; D009139.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2.
AC   DI-06460
AR   CFSMR2.
DE   An autosomal recessive disorder characterized by flat face, low-set
DE   ears, and cleft lip and palate, as well as costovertebral anomalies
DE   including bifid and fused ribs, vertebral segmentation defects, and
DE   scoliosis. Intellectual delay can be severe, with absent speech.
DR   MIM; 616994; phenotype.
DR   MedGen; CN315814.
DR   MeSH; D008607.
DR   MeSH; D009139.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Craniofacial microsomia 1.
AC   DI-06354
AR   CFM1.
DE   A form of craniofacial microsomia, a disorder characterized by a
DE   spectrum of craniofacial malformations ranging from isolated microtia
DE   with or without aural atresia to underdevelopment of the mandible,
DE   maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an
DE   autosomal dominant form characterized by mandibular hypoplasia,
DE   microtia, facial and preauricular skin tags, epibulbar dermoids, and
DE   lateral oral clefts. Affected individuals also present skeletal and
DE   cardiac abnormalities.
SY   Facioauriculovertebral sequence.
SY   Facio-auriculo-vertebral spectrum.
SY   FAV sequence.
SY   Goldenhar syndrome.
SY   Hemifacial microsomia.
SY   HFM.
SY   OAV dysplasia.
SY   OAVS.
SY   Oculoauricular vertebral dysplasia.
SY   Oculoauriculovertebral spectrum.
SY   Oculo-auriculo-vertebral spectrum.
DR   MIM; 164210; phenotype.
DR   MedGen; C0265240.
DR   MeSH; D006053.
//
ID   Craniofacial microsomia 2.
AC   DI-06720
AR   CFM2.
DE   A form of craniofacial microsomia, a disorder characterized by a
DE   spectrum of craniofacial malformations ranging from isolated microtia
DE   with or without aural atresia to underdevelopment of the mandible,
DE   maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2
DE   patients exhibit isolated unilateral or bilateral grade II/III
DE   microtia, with or without atresia, although some patients show only
DE   minor external ear defects. Mandibular hypoplasia, micrognathia, and
DE   dental anomalies have also been observed. CFM2 inheritance can be
DE   autosomal dominant or autosomal recessive.
DR   MIM; 620444; phenotype.
DR   MedGen; CN372345.
DR   MeSH; D006053.
//
ID   Craniofacial-deafness-hand syndrome.
AC   DI-01442
AR   CDHS.
DE   Thought to be an autosomal dominant disease which comprises absence or
DE   hypoplasia of the nasal bones, hypoplastic maxilla, small and short
DE   nose with thin nares, limited movement of the wrist, short palpebral
DE   fissures, ulnar deviation of the fingers, hypertelorism and profound
DE   sensory-neural deafness.
DR   MIM; 122880; phenotype.
DR   MedGen; C1852510.
//
ID   Craniofrontonasal syndrome.
AC   DI-01443
AR   CFNS.
DE   X-linked inherited syndrome characterized by hypertelorism, coronal
DE   synostosis with brachycephaly, downslanting palpebral fissures,
DE   clefting of the nasal tip, joint anomalies, longitudinally grooved
DE   fingernails and other digital anomalies.
SY   CFND.
SY   Craniofrontonasal dysostosis.
SY   Craniofrontonasal dysplasia.
DR   MIM; 304110; phenotype.
DR   MedGen; C0220767.
DR   MeSH; D019465.
KW   KW-0989:Craniosynostosis.
//
ID   Craniolenticulosutural dysplasia.
AC   DI-01444
AR   CLSD.
DE   Autosomal recessive syndrome characterized by late-closing fontanels,
DE   sutural cataracts, facial dysmorphisms and skeletal defects.
SY   Boyadjiev-Jabs syndrome.
SY   Cranio-lenticulo-sutural dysplasia.
DR   MIM; 607812; phenotype.
DR   MedGen; C1843042.
DR   MeSH; D001848.
DR   MeSH; D019465.
//
ID   Craniometaphyseal dysplasia, autosomal dominant.
AC   DI-01445
AR   CMDD.
DE   An osteochondrodysplasia characterized by hyperostosis and sclerosis
DE   of the craniofacial bones associated with abnormal modeling of the
DE   metaphyses. Sclerosis of the skull may lead to asymmetry of the
DE   mandible, as well as to cranial nerve compression, that may finally
DE   result in hearing loss and facial palsy.
SY   CMDJ.
SY   Craniometaphyseal dysplasia Jackson type.
DR   MIM; 123000; phenotype.
DR   MedGen; C1852502.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Craniometaphyseal dysplasia, autosomal recessive.
AC   DI-03897
AR   CMDR.
DE   An osteochondrodysplasia characterized by hyperostosis and sclerosis
DE   of the craniofacial bones associated with abnormal modeling of the
DE   metaphyses. Sclerosis of the skull may lead to asymmetry of the
DE   mandible, as well as to cranial nerve compression, that may finally
DE   result in hearing loss and facial palsy.
DR   MIM; 218400; phenotype.
DR   MedGen; C2931244.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Cranioosteoarthropathy.
AC   DI-01446
AR   COA.
DE   A form of osteoarthropathy characterized by swelling of the joints,
DE   digital clubbing, hyperhidrosis, delayed closure of the fontanels,
DE   periostosis, and variable patent ductus arteriosus. Pachydermia is not
DE   a prominent feature.
DR   MIM; 259100; phenotype.
DR   MedGen; C2678439.
DR   MedGen; C2678440.
DR   MedGen; C2678441.
DR   MeSH; D010004.
//
ID   Craniosynostosis 1.
AC   DI-01447
AR   CRS1.
DE   A primary abnormality of skull growth involving premature fusion of
DE   one or more cranial sutures. The growth velocity of the skull often
DE   cannot match that of the developing brain resulting in an abnormal
DE   head shape and, in some cases, increased intracranial pressure, which
DE   must be treated promptly to avoid permanent neurodevelopmental
DE   disability.
SY   Craniostenosis.
SY   CRS.
DR   MIM; 123100; phenotype.
DR   MedGen; C0265534.
DR   MedGen; CN029978.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 2.
AC   DI-00382
AR   CRS2.
DE   A primary abnormality of skull growth involving premature fusion of
DE   one or more cranial sutures. The growth velocity of the skull often
DE   cannot match that of the developing brain resulting in an abnormal
DE   head shape and, in some cases, increased intracranial pressure, which
DE   must be treated promptly to avoid permanent neurodevelopmental
DE   disability. CRS2 is characterized by either fronto-orbital recession,
DE   or frontal bossing, or turribrachycephaly, or cloverleaf skull.
DE   Associated features include severe headache, high incidence of visual
DE   problems (myopia or hyperopia), and short first metatarsals.
DE   Intelligence is normal.
SY   Craniosynostosis Boston type.
SY   Craniosynostosis Boston-type.
SY   Craniosynostosis Warman type.
SY   Craniosynostosis Warman-type.
SY   CSB.
SY   Warman-Mulliken-Hayward syndrome.
DR   MIM; 604757; phenotype.
DR   MedGen; C1858160.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 3.
AC   DI-03808
AR   CRS3.
DE   A primary abnormality of skull growth involving premature fusion of
DE   one or more cranial sutures. The growth velocity of the skull often
DE   cannot match that of the developing brain resulting in an abnormal
DE   head shape and, in some cases, increased intracranial pressure, which
DE   must be treated promptly to avoid permanent neurodevelopmental
DE   disability.
DR   MIM; 615314; phenotype.
DR   MedGen; C3715051.
DR   MedGen; CN177972.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 4.
AC   DI-03809
AR   CRS4.
DE   A primary abnormality of skull growth involving premature fusion of
DE   one or more cranial sutures. The growth velocity of the skull often
DE   cannot match that of the developing brain resulting in an abnormal
DE   head shape and, in some cases, increased intracranial pressure, which
DE   must be treated promptly to avoid permanent neurodevelopmental
DE   disability.
DR   MIM; 600775; phenotype.
DR   MedGen; C1833340.
DR   MedGen; C3806917.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 5.
AC   DI-03953
AR   CRS5.
DE   A primary abnormality of skull growth involving premature fusion of
DE   one or more cranial sutures. The growth velocity of the skull often
DE   cannot match that of the developing brain resulting in an abnormal
DE   head shape and, in some cases, increased intracranial pressure, which
DE   must be treated promptly to avoid permanent neurodevelopmental
DE   disability.
DR   MIM; 615529; phenotype.
DR   MedGen; C3809819.
DR   MedGen; CN181759.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 6.
AC   DI-04561
AR   CRS6.
DE   A form of craniosynostosis, a primary abnormality of skull growth
DE   involving premature fusion of one or more cranial sutures. The growth
DE   velocity of the skull often cannot match that of the developing brain
DE   resulting in an abnormal head shape and, in some cases, increased
DE   intracranial pressure, which must be treated promptly to avoid
DE   permanent neurodevelopmental disability.
DR   MIM; 616602; phenotype.
DR   MedGen; CN233152.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis 7.
AC   DI-04994
AR   CRS7.
DE   A form of craniosynostosis, a primary abnormality of skull growth
DE   involving premature fusion of one or more cranial sutures. The growth
DE   velocity of the skull often cannot match that of the developing brain
DE   resulting in an abnormal head shape and, in some cases, increased
DE   intracranial pressure, which must be treated promptly to avoid
DE   permanent neurodevelopmental disability.
SY   Craniosynostosis 7, digenic.
DR   MIM; 617439; phenotype.
DR   MedGen; CN242220.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniosynostosis and dental anomalies.
AC   DI-03259
AR   CRSDA.
DE   A disorder characterized by craniosynostosis, maxillary hypoplasia,
DE   and dental anomalies, including malocclusion, delayed and ectopic
DE   tooth eruption, and/or supernumerary teeth. Some patients also display
DE   minor digit anomalies, such as syndactyly and/or clinodactyly.
SY   Kreiborg-Pakistani syndrome.
DR   MIM; 614188; phenotype.
DR   MedGen; C3280073.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Craniotubular dysplasia, Ikegawa type.
AC   DI-06325
AR   CTDI.
DE   An autosomal recessive, sclerosing bone disorder characterized by
DE   proportional or short-limbed short stature in association with
DE   macrocephaly, dolichocephaly, or prominent forehead. Radiography shows
DE   hyperostosis of the calvaria and skull base, with metadiaphyseal
DE   undermodeling of the long tubular bones and mild shortening and
DE   diaphyseal broadening of the short tubular bones. Affected individuals
DE   experience progressive vision loss in the first decade of life due to
DE   optic nerve compression, and deafness may develop in the second decade
DE   of life.
DR   MIM; 619727; phenotype.
DR   MedGen; CN306204.
DR   MeSH; D001847.
KW   KW-0242:Dwarfism.
//
ID   Creutzfeldt-Jakob disease.
AC   DI-01448
AR   CJD.
DE   Occurs primarily as a sporadic disorder (1 per million), while 10-15%
DE   are familial. Accidental transmission of CJD to humans appears to be
DE   iatrogenic (contaminated human growth hormone (HGH), corneal
DE   transplantation, electroencephalographic electrode implantation,
DE   etc.). Epidemiologic studies have failed to implicate the ingestion of
DE   infected animal meat in the pathogenesis of CJD in human. The triad of
DE   microscopic features that characterize the prion diseases consists of
DE   (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis
DE   that often appears to be out of proportion to the degree of nerve cell
DE   loss, and (3) amyloid plaque formation. CJD is characterized by
DE   progressive dementia and myoclonic seizures, affecting adults in mid-
DE   life. Some patients present sleep disorders, abnormalities of high
DE   cortical function, cerebellar and corticospinal disturbances. The
DE   disease ends in death after a 3-12 months illness.
DR   MIM; 123400; phenotype.
DR   MedGen; C0022336.
DR   MedGen; C0376329.
DR   MedGen; C0751254.
DR   MedGen; C1852467.
DR   MedGen; C1969957.
//
ID   Crigler-Najjar syndrome 1.
AC   DI-01449
AR   CN1.
DE   Patients have severe hyperbilirubinemia and usually die of kernicterus
DE   (bilirubin accumulation in the basal ganglia and brainstem nuclei)
DE   within the first year of life. CN1 inheritance is autosomal recessive.
SY   CN-I.
SY   Crigler-Najjar syndrome type I.
DR   MIM; 218800; phenotype.
DR   MedGen; C0010324.
//
ID   Crigler-Najjar syndrome 2.
AC   DI-01450
AR   CN2.
DE   Patients have less severe hyperbilirubinemia and usually survive into
DE   adulthood without neurologic damage. Phenobarbital, which induces the
DE   partially deficient glucuronyl transferase, can diminish the jaundice.
DE   CN2 inheritance is autosomal dominant.
SY   CN-II.
SY   Crigler-Najjar syndrome type II.
DR   MIM; 606785; phenotype.
DR   MedGen; C0268311.
DR   MedGen; C2931132.
//
ID   Crisponi/Cold-induced sweating syndrome 1.
AC   DI-01356
AR   CISS1.
DE   An autosomal recessive disorder characterized by profuse sweating
DE   induced by cool surroundings (temperatures of 7 to 18 degrees
DE   Celsius). Patients manifest, in the neonatal period, orofacial
DE   weakness with impaired sucking and swallowing, resulting in poor
DE   feeding. Affected infants show a tendency to startle, with
DE   contractions of the facial muscles in response to tactile stimuli or
DE   during crying, trismus, abundant salivation, and opisthotonus. These
DE   features are referred to as Crisponi syndrome and can result in early
DE   death in infancy. Patients who survive into childhood have
DE   hyperhidrosis, mainly of the upper body, in response to cold
DE   temperatures, and sweat very little with heat. Additional
DE   abnormalities include a high-arched palate, nasal voice, depressed
DE   nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
SY   Crisponi syndrome.
SY   Muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death.
SY   Sohar-Crisponi syndrome.
DR   MIM; 272430; phenotype.
DR   MedGen; C1832409.
DR   MedGen; C1848947.
DR   MeSH; D000015.
DR   MeSH; D006945.
//
ID   Crisponi/Cold-induced sweating syndrome 2.
AC   DI-01357
AR   CISS2.
DE   An autosomal recessive disorder characterized by profuse sweating
DE   induced by cool surroundings (temperatures of 7 to 18 degrees
DE   Celsius). Patients manifest, in the neonatal period, orofacial
DE   weakness with impaired sucking and swallowing, resulting in poor
DE   feeding. Affected infants show a tendency to startle, with
DE   contractions of the facial muscles in response to tactile stimuli or
DE   during crying, trismus, abundant salivation, and opisthotonus. These
DE   features are referred to as Crisponi syndrome and can result in early
DE   death in infancy. Patients who survive into childhood have
DE   hyperhidrosis, mainly of the upper body, in response to cold
DE   temperatures, and sweat very little with heat. Additional
DE   abnormalities include a high-arched palate, nasal voice, depressed
DE   nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
DR   MIM; 610313; phenotype.
DR   MedGen; C1853198.
DR   MeSH; D000015.
DR   MeSH; D006945.
//
ID   Crouzon syndrome.
AC   DI-00383
AR   CS.
DE   An autosomal dominant syndrome characterized by craniosynostosis,
DE   hypertelorism, exophthalmos and external strabismus, parrot-beaked
DE   nose, short upper lip, hypoplastic maxilla, and a relative mandibular
DE   prognathism.
SY   CFD1.
SY   Craniofacial dysostosis type I.
SY   Crouzon craniofacial dysostosis.
DR   MIM; 123500; phenotype.
DR   MedGen; C0010273.
DR   MedGen; C2931196.
DR   MeSH; D003394.
KW   KW-0989:Craniosynostosis.
//
ID   Crouzon syndrome with acanthosis nigricans.
AC   DI-01453
AR   CAN.
DE   Classic Crouzon disease which is caused by mutations in the FGFR2 gene
DE   is characterized by craniosynostosis (premature fusion of the skull
DE   sutures), and facial hypoplasia. Crouzon syndrome with acanthosis
DE   nigricans (a skin disorder characterized by pigmentation anomalies),
DE   CAN, is considered to be an independent disorder from classic Crouzon
DE   syndrome. CAN is characterized by additional more severe physical
DE   manifestation, such as Chiari malformation, hydrocephalus, and atresia
DE   or stenosis of the choanas, and is caused by a specific mutation (Ala-
DE   391 to Glu) in the transmembrane domain of FGFR3. It is proposed to
DE   have an autosomal dominant mode of inheritance.
DR   MIM; 612247; phenotype.
DR   MedGen; C2677099.
//
ID   Cryohydrocytosis.
AC   DI-04609
AR   CHC.
DE   An autosomal dominant disorder of red cell membrane permeability
DE   characterized by cold-induced changes in cell volume, resulting in
DE   cold-sensitive stomatocytosis, and increased erythrocyte osmotic
DE   fragility and autohemolysis at 4 degrees Celsius. Patients present
DE   with mild to moderate hemolytic anemia, splenomegaly, fatigue, and
DE   pseudohyperkalemia due to a potassium leak from the erythrocytes.
SY   Stomatocytosis, cold-sensitive.
DR   MIM; 185020; phenotype.
DR   MedGen; C1861453.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Cryptophthalmos, unilateral or bilateral, isolated.
AC   DI-05544
AR   CRYPTOP.
DE   An autosomal dominant, rare condition characterized by congenital
DE   eyelid malformation with an underlying malformed eye. It can be
DE   bilateral or unilateral and is classified into complete (typical),
DE   incomplete (atypical) and abortive (congenital symblepharon) forms.
DE   The skin of patients with complete cryptophthalmos extends
DE   uninterrupted from the forehead to the cheek, whereas incomplete
DE   cryptophthalmos exists when there is medial eyelid fusion, but
DE   coincident intact lateral structures. The symblepharon variety
DE   presents with fusion of the upper eyelid skin to the superior aspect
DE   of the globe. The complete variety is the most common form.
SY   Ankyloblepharon, simple.
SY   cryptophthalmos with microphthalmia and Peters anomaly.
DR   MIM; 123570; phenotype.
DR   MedGen; C1852453.
DR   MeSH; D005124.
DR   MeSH; D005141.
//
ID   Cryptorchidism.
AC   DI-01455
AR   CRYPTO.
DE   One of the most frequent congenital abnormalities in humans, involving
DE   2-5% of male births. Cryptorchidism is associated with increased risk
DE   of infertility and testicular cancer.
SY   Impaired testicular descent.
DR   MIM; 219050; phenotype.
DR   MedGen; C0010417.
//
ID   Culler-Jones syndrome.
AC   DI-04127
AR   CJS.
DE   An autosomal dominant disorder characterized by a wide range of
DE   clinical manifestations. Clinical features include hypothalamic
DE   hamartoma, pituitary dysfunction, central or postaxial polydactyly,
DE   and syndactyly. Malformations are frequent in the viscera, e.g. anal
DE   atresia, bifid uvula, congenital heart malformations, pulmonary or
DE   renal dysplasia.
SY   Pallister-Hall syndrome 2.
SY   PHS2.
DR   MIM; 615849; phenotype.
DR   MedGen; CN188939.
DR   MeSH; D054975.
//
ID   Currarino syndrome.
AC   DI-01458
AR   CURRAS.
DE   The triad of a presacral tumor, sacral agenesis and anorectal
DE   malformation constitutes the Currarino syndrome which is caused by
DE   dorsal-ventral patterning defects during embryonic development. The
DE   syndrome occurs in the majority of patients as an autosomal dominant
DE   trait.
DR   MIM; 176450; phenotype.
DR   MedGen; C1531773.
DR   MedGen; C1867774.
DR   MedGen; C1867775.
//
ID   Curry-Jones syndrome.
AC   DI-04790
AR   CRJS.
DE   A multisystem disorder characterized by patchy skin lesions,
DE   polysyndactyly, diverse cerebral malformations, unicoronal
DE   craniosynostosis, iris colobomas, microphthalmia, and intestinal
DE   malrotation with myofibromas or hamartomas.
SY   Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development.
SY   Curry Jones syndrome.
DR   MIM; 601707; phenotype.
DR   MedGen; C0795915.
DR   MeSH; D004065.
DR   MeSH; D012868.
DR   MeSH; D013576.
DR   MeSH; D019465.
//
ID   Cutaneous telangiectasia and cancer syndrome, familial.
AC   DI-03427
AR   FCTCS.
DE   A disease characterized by cutaneous telangiectases in infancy with
DE   patchy alopecia over areas of affected skin, thinning of the lateral
DE   eyebrows, and mild dental and nail anomalies. Affected individuals are
DE   at increased risk of developing oropharyngeal cancer, and other
DE   malignancies have been reported as well.
DR   MIM; 614564; phenotype.
DR   MedGen; C3281203.
DR   MeSH; D009386.
DR   MeSH; D013684.
//
ID   Cutis laxa, autosomal dominant, 1.
AC   DI-01204
AR   ADCL1.
DE   A connective tissue disorder characterized by loose, hyperextensible
DE   skin with decreased resilience and elasticity leading to a premature
DE   aged appearance. Face, hands, feet, joints, and torso may be
DE   differentially affected. Additional variable clinical features are
DE   gastrointestinal diverticula, hernia, and genital prolapse. Rare
DE   manifestations are pulmonary artery stenosis, aortic aneurysm,
DE   bronchiectasis, and emphysema.
DR   MIM; 123700; phenotype.
DR   MedGen; C0268350.
DR   MedGen; C3276539.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal dominant, 2.
AC   DI-03317
AR   ADCL2.
DE   A connective tissue disorder characterized by loose, hyperextensible
DE   skin with decreased resilience and elasticity leading to a premature
DE   aged appearance. Face, hands, feet, joints, and torso may be
DE   differentially affected. Additional variable clinical features are
DE   gastrointestinal diverticula, hernia, and genital prolapse. Rare
DE   manifestations are pulmonary artery stenosis, aortic aneurysm,
DE   bronchiectasis, and emphysema.
DR   MIM; 614434; phenotype.
DR   MedGen; C3280794.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal dominant, 3.
AC   DI-04558
AR   ADCL3.
DE   A form of cutis laxa, a connective tissue disorder characterized by
DE   loose, hyperextensible skin with decreased resilience and elasticity
DE   leading to a premature aged appearance. Face, hands, feet, joints, and
DE   torso may be differentially affected. Additional variable clinical
DE   features are gastrointestinal diverticula, hernia, and genital
DE   prolapse. Rare manifestations are pulmonary artery stenosis, aortic
DE   aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin
DE   skin with visible veins and wrinkles, cataract or corneal clouding,
DE   moderate intellectual disability, muscular hypotonia with brisk muscle
DE   reflexes, clenched fingers, and pre- and postnatal growth retardation.
DR   MIM; 616603; phenotype.
DR   MedGen; CN233153.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 1A.
AC   DI-01236
AR   ARCL1A.
DE   A connective tissue disorder characterized by loose, hyperextensible
DE   skin with decreased resilience and elasticity leading to a premature
DE   aged appearance. Face, hands, feet, joints, and torso may be
DE   differentially affected. The clinical spectrum of autosomal recessive
DE   cutis laxa is highly heterogeneous with respect to organ involvement
DE   and severity. Type I autosomal recessive cutis laxa is a specific,
DE   life-threatening disorder with organ involvement, lung atelectasis and
DE   emphysema, diverticula of the gastrointestinal and genitourinary
DE   systems, and vascular anomalies. Associated cranial anomalies, late
DE   closure of the fontanel, joint laxity, hip dislocation, and inguinal
DE   hernia have been observed but are uncommon.
SY   CL type I.
SY   Cutis laxa autosomal recessive type I.
SY   Cutis laxa autosomal recessive type IA.
DR   MIM; 219100; phenotype.
DR   MedGen; C0268351.
DR   MedGen; CN033664.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 1B.
AC   DI-03318
AR   ARCL1B.
DE   A connective tissue disorder characterized by loose, hyperextensible
DE   skin with decreased resilience and elasticity leading to a premature
DE   aged appearance. Face, hands, feet, joints, and torso may be
DE   differentially affected. The clinical spectrum of autosomal recessive
DE   cutis laxa is highly heterogeneous with respect to organ involvement
DE   and severity. ARCL1B features include emphysema, lethal pulmonary
DE   artery occlusion, aortic aneurysm, cardiopulmonary insufficiency,
DE   birth fractures, arachnodactyly, and fragility of blood vessels.
SY   Cutis laxa autosomal recessive type IB.
DR   MIM; 614437; phenotype.
DR   MedGen; C3280798.
DR   MedGen; CN120647.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 2A.
AC   DI-01461
AR   ARCL2A.
DE   A disorder characterized by an excessive congenital skin wrinkling, a
DE   large fontanelle with delayed closure, a typical facial appearance
DE   with downslanting palpebral fissures, a general connective tissue
DE   weakness, and varying degrees of growth and developmental delay and
DE   neurological abnormalities. Some affected individuals develop seizures
DE   and mental deterioration later in life, whereas the skin phenotype
DE   tends to become milder with age. At the molecular level, an abnormal
DE   glycosylation of serum proteins is observed in many cases.
SY   ARCL2.
SY   CL type IIA.
SY   Cutis laxa, Debre type.
SY   Cutis laxa autosomal recessive type IIA.
SY   Cutis laxa with bone dystrophy.
SY   Cutis laxa with congenital disorder of glycosylation.
SY   Cutis laxa with growth and developmental delay.
SY   Cutis laxa with joint laxity and retarded development.
DR   MIM; 219200; phenotype.
DR   MedGen; C0268355.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 2B.
AC   DI-01462
AR   ARCL2B.
DE   A disorder characterized by an excessive congenital skin wrinkling, a
DE   large fontanelle with delayed closure, a typical facial appearance
DE   with downslanting palpebral fissures, a general connective tissue
DE   weakness, and varying degrees of growth and developmental delay and
DE   neurological abnormalities. Patients do not manifest metabolic
DE   abnormalities.
SY   CL type IIB.
SY   Cutis laxa autosomal recessive type IIB.
SY   Cutis laxa with progeroid features.
DR   MIM; 612940; phenotype.
DR   MedGen; C2751987.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 2C.
AC   DI-04974
AR   ARCL2C.
DE   A form of cutis laxa, a disorder characterized by an excessive
DE   congenital skin wrinkling, a large fontanelle with delayed closure, a
DE   typical facial appearance with downslanting palpebral fissures, and a
DE   general connective tissue weakness. Most ARCL2C patients exhibit
DE   severe hypotonia as well as cardiovascular involvement.
SY   Cutis laxa autosomal recessive, type IIC.
DR   MIM; 617402; phenotype.
DR   MedGen; CN241832.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 2D.
AC   DI-04975
AR   ARCL2D.
DE   A form of cutis laxa, a disorder characterized by an excessive
DE   congenital skin wrinkling, a large fontanelle with delayed closure, a
DE   typical facial appearance with downslanting palpebral fissures, and a
DE   general connective tissue weakness. Most ARCL2D patients exhibit
DE   severe hypotonia as well as cardiovascular and neurologic involvement.
SY   Cutis laxa, autosomal recessive, type IID.
DR   MIM; 617403; phenotype.
DR   MedGen; CN241828.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 2E.
AC   DI-06173
AR   ARCL2E.
DE   A form of cutis laxa, a disorder characterized by an excessive
DE   congenital skin wrinkling, a large fontanelle with delayed closure, a
DE   typical facial appearance with downslanting palpebral fissures, and a
DE   general connective tissue weakness. ARCL2E patients present with cutis
DE   laxa, inguinal hernia, craniofacial dysmorphology, variable heart
DE   defects, and prominent skeletal features including craniosynostosis,
DE   short stature, brachydactyly, and syndactyly.
SY   Cutis laxa, autosomal recessive, type IIE.
DR   MIM; 619451; phenotype.
DR   MedGen; CN300064.
DR   MeSH; D003483.
//
ID   Cutis laxa, autosomal recessive, 3A.
AC   DI-03310
AR   ARCL3A.
DE   A syndrome characterized by facial dysmorphism with a progeroid
DE   appearance, large and late-closing fontanel, cutis laxa, joint
DE   hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal
DE   growth retardation, intellectual deficit, developmental delay, and
DE   ophthalmologic abnormalities.
SY   Cutis laxa autosomal recessive type IIIA.
SY   De Barsy syndrome.
SY   De Barsy syndrome A.
SY   Developmental delay-choreoathetosis-joint dislocation-lax skin.
SY   Neurocutaneous syndrome Bicknell type.
SY   Progeroid syndrome of De Barsy.
DR   MIM; 219150; phenotype.
DR   MedGen; C0268354.
DR   MeSH; D003318.
DR   MeSH; D003483.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Cutis laxa, autosomal recessive, 3B.
AC   DI-03319
AR   ARCL3B.
DE   A disorder characterized by an aged appearance with distinctive facial
DE   features, sparse hair, ophthalmologic abnormalities, intrauterine
DE   growth retardation, and cutis laxa.
SY   Cutis laxa autosomal recessive type IIIB.
SY   De Barsy syndrome B.
DR   MIM; 614438; phenotype.
DR   MedGen; C3280799.
DR   MedGen; CN120648.
DR   MeSH; D003483.
//
ID   Cyanosis transient neonatal.
AC   DI-03171
AR   TNCY.
DE   A disorder characterized by cyanosis in the fetus and neonate, due to
DE   a defect in the fetal hemoglobin chain which has reduced affinity for
DE   oxygen. Some patients develop anemia resulting from increased
DE   destruction of red cells containing abnormal or unstable hemoglobin.
DE   The cyanosis resolves spontaneously by 5 to 6 months of age or
DE   earlier, as the adult beta-globin chain is produced and replaces the
DE   fetal gamma-globin chain.
DR   MIM; 613977; phenotype.
DR   MedGen; C3151421.
DR   MeSH; D003490.
//
ID   Cyclic haematopoiesis.
AC   DI-01463
AR   CH.
DE   Autosomal dominant disease in which blood-cell production from the
DE   bone marrow oscillates with 21-day periodicity. Circulating
DE   neutrophils vary between almost normal numbers and zero. During
DE   intervals of neutropenia, affected individuals are at risk for
DE   opportunistic infection. Monocytes, platelets, lymphocytes and
DE   reticulocytes also cycle with the same frequency.
SY   Cyclic neutropenia.
DR   MIM; 162800; phenotype.
DR   MedGen; C0221023.
DR   MeSH; D009503.
//
ID   Cylindromatosis, familial.
AC   DI-01564
AR   FCYL.
DE   A disorder characterized by multiple skin tumors that develop from
DE   skin appendages, such as hair follicles and sweat glands. Affected
DE   individuals typically develop large numbers of tumors called
DE   cylindromas that arise predominantly in hairy parts of the body with
DE   approximately 90% on the head and neck. In severely affected
DE   individuals, cylindromas may combine into a confluent mass which may
DE   ulcerate or become infected (turban tumor syndrome). Individuals with
DE   familial cylindromatosis occasionally develop other types of tumors
DE   including spiradenomas that begin in sweat glands, and
DE   trichoepitheliomas arising from hair follicles.
SY   Ancell-Spiegler cylindromas.
SY   Dermal eccrine cylindromatosis.
SY   Turban tumor syndrome.
DR   MIM; 132700; phenotype.
DR   MedGen; C1305968.
DR   MedGen; C1851526.
DR   MeSH; D009386.
DR   MeSH; D012878.
//
ID   Cystathionine beta-synthase deficiency.
AC   DI-01464
AR   CBSD.
DE   An enzymatic deficiency resulting in altered sulfur metabolism and
DE   homocystinuria. The clinical features of untreated homocystinuria due
DE   to CBS deficiency include myopia, ectopia lentis, intellectual
DE   disability, skeletal anomalies resembling Marfan syndrome, and
DE   thromboembolic events. Light skin and hair can also be present.
DE   Biochemical features include increased urinary homocystine and
DE   methionine.
SY   CBS deficiency.
SY   Homocystinuria due to cystathionine beta-synthase deficiency.
SY   Homocystinuria with or without response to pyridoxine.
SY   Hyperhomocysteinemia thrombotic CBS-related.
DR   MIM; 236200; phenotype.
DR   MedGen; C3150344.
DR   MeSH; D006712.
//
ID   Cystathioninuria.
AC   DI-01465
AR   CSTNU.
DE   Autosomal recessive phenotype characterized by abnormal accumulation
DE   of plasma cystathionine, leading to increased urinary excretion.
SY   Cystathionase deficiency.
DR   MIM; 219500; phenotype.
DR   MedGen; C0220993.
DR   MedGen; C0268616.
DR   MedGen; C3495552.
DR   MeSH; D020138.
//
ID   Cystic fibrosis.
AC   DI-01466
AR   CF.
DE   A common generalized disorder of the exocrine glands which impairs
DE   clearance of secretions in a variety of organs. It is characterized by
DE   the triad of chronic bronchopulmonary disease (with recurrent
DE   respiratory infections), pancreatic insufficiency (which leads to
DE   malabsorption and growth retardation) and elevated sweat electrolytes.
DE   It is the most common genetic disease in Caucasians, with a prevalence
DE   of about 1 in 2'000 live births. Inheritance is autosomal recessive.
SY   Mucoviscidosis.
DR   MIM; 219700; phenotype.
DR   MedGen; C0010674.
DR   MeSH; D003550.
//
ID   Cystinosis, adult, non-nephropathic type.
AC   DI-02893
AR   CTNSANN.
DE   A form of cystinosis, a lysosomal storage disease due to defective
DE   transport of cystine across the lysosomal membrane. This results in
DE   cystine accumulation and crystallization in the cells causing
DE   widespread tissue damage. Cystinosis adult non-nephropathic type is
DE   characterized by ocular features and a benign course. Patients
DE   manifest mild photophobia due to conjunctival and corneal cystine
DE   crystals.
SY   Cystinosis adult nonnephropathic.
SY   Cystinosis benign nonnephropathic.
SY   Cystinosis ocular nonnephropathic.
DR   MIM; 219750; phenotype.
DR   MedGen; C1857413.
DR   MedGen; C2931013.
DR   MeSH; D003554.
//
ID   Cystinosis, late-onset juvenile or adolescent nephropathic type.
AC   DI-02894
AR   CTNSJAN.
DE   A form of cystinosis, a lysosomal storage disease due to defective
DE   transport of cystine across the lysosomal membrane. This results in
DE   cystine accumulation and crystallization in the cells causing
DE   widespread tissue damage. Late-onset juvenile or adolescent
DE   nephropathic cystinosis is an intermediated form, manifesting first at
DE   age 10 to 12 years with proteinuria due to glomerular damage rather
DE   than with the manifestations of tubular damage that occur first in
DE   infantile cystinosis. There is no excess amino aciduria and stature is
DE   normal. Photophobia, late development of pigmentary retinopathy, and
DE   chronic headaches are features.
SY   Cystinosis intermediate.
DR   MIM; 219900; phenotype.
DR   MedGen; C0268626.
DR   MeSH; D003554.
//
ID   Cystinosis, nephropathic type.
AC   DI-01467
AR   CTNS.
DE   A form of cystinosis, a lysosomal storage disease due to defective
DE   transport of cystine across the lysosomal membrane. This results in
DE   cystine accumulation and crystallization in the cells causing
DE   widespread tissue damage. The classical nephropathic form has onset in
DE   the first year of life and is characterized by a polyuro-polydipsic
DE   syndrome, marked height-weight growth delay, generalized impaired
DE   proximal tubular reabsorptive capacity, with severe fluid-electrolyte
DE   balance alterations, renal failure, ocular symptoms and other systemic
DE   complications.
SY   Cystinosis atypical nephropathic.
SY   Cystinosis infantile nephropathic.
SY   Defect of cystinosin.
SY   Defect of lysosomal cystine transport protein.
DR   MIM; 219800; phenotype.
DR   MedGen; C0010690.
DR   MedGen; C2749685.
DR   MedGen; C2931187.
DR   MedGen; C3537440.
DR   MeSH; D003554.
//
ID   Cystinuria.
AC   DI-01468
AR   CSNU.
DE   An autosomal disorder characterized by impaired epithelial cell
DE   transport of cystine and dibasic amino acids (lysine, ornithine, and
DE   arginine) in the proximal renal tubule and gastrointestinal tract. The
DE   impaired renal reabsorption of cystine and its low solubility causes
DE   the formation of calculi in the urinary tract, resulting in
DE   obstructive uropathy, pyelonephritis, and, rarely, renal failure.
SY   CSNU1.
SY   CSNU3.
SY   Cystinuria 1.
SY   Cystinuria type A.
SY   Cystinuria type A/B.
SY   Cystinuria type B.
SY   Cystinuria type I.
SY   Cystinuria type II.
SY   Cystinuria type III.
SY   Cystinuria type non-I.
DR   MIM; 220100; phenotype.
DR   MedGen; C0010691.
DR   MedGen; C1857388.
DR   MedGen; C1857389.
DR   MedGen; C1857390.
DR   MeSH; D003555.
KW   KW-0199:Cystinuria.
//
ID   Czech dysplasia.
AC   DI-03158
AR   CZECHD.
DE   A skeletal dysplasia characterized by early-onset, progressive
DE   pseudorheumatoid arthritis, platyspondyly, and short third and fourth
DE   toes.
SY   Czech dysplasia metatarsal type.
SY   Pseudorheumatoid dysplasia progressive with hypoplastic toes.
SY   Spondyloepiphyseal dysplasia with precocious osteoarthritis.
DR   MIM; 609162; phenotype.
DR   MedGen; C1836683.
DR   MeSH; D010009.
//
ID   D-2-hydroxyglutaric aciduria 1.
AC   DI-00384
AR   D2HGA1.
DE   A rare recessive neurometabolic disorder causing developmental delay,
DE   epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe
DE   phenotype exist. The severe phenotype is homogeneous and is
DE   characterized by early infantile-onset epileptic encephalopathy and
DE   cardiomyopathy. The mild phenotype has a more variable clinical
DE   presentation. Diagnosis is based on the presence of an excess of D-2-
DE   hydroxyglutaric acid in the urine.
SY   D2HA.
DR   MIM; 600721; phenotype.
DR   MedGen; C1833429.
DR   MedGen; C3152055.
DR   MeSH; D020739.
//
ID   D-2-hydroxyglutaric aciduria 2.
AC   DI-02980
AR   D2HGA2.
DE   A neurometabolic disorder causing developmental delay, epilepsy,
DE   hypotonia, and dysmorphic features. Both a mild and a severe phenotype
DE   exist. The severe phenotype is homogeneous and is characterized by
DE   early infantile-onset epileptic encephalopathy and cardiomyopathy. The
DE   mild phenotype has a more variable clinical presentation. Diagnosis is
DE   based on the presence of an excess of D-2-hydroxyglutaric acid in the
DE   urine.
DR   MIM; 613657; phenotype.
DR   MedGen; C3150909.
DR   MeSH; D020739.
//
ID   D-bifunctional protein deficiency.
AC   DI-01471
AR   DBPD.
DE   Disorder of peroxisomal fatty acid beta-oxidation.
DR   MIM; 261515; phenotype.
DR   MedGen; C0342870.
//
ID   D-glyceric aciduria.
AC   DI-03131
AR   D-GA.
DE   A rare metabolic disease characterized by chronic metabolic acidosis
DE   and a highly variable clinical phenotype. Clinical features range from
DE   an encephalopathic presentation with seizures, microcephaly, severe
DE   intellectual disability and early death, to milder manifestations with
DE   only speech delay or even normal development.
SY   D-glyceric acidemia.
SY   Glycerate kinase deficiency.
DR   MIM; 220120; phenotype.
DR   MedGen; C0342765.
DR   MedGen; C1291386.
DR   MeSH; D008661.
//
ID   D-lactic aciduria with gout.
AC   DI-05545
AR   DLACD.
DE   An autosomal recessive metabolic disorder characterized by D-lactic
DE   aciduria in the presence of normal plasma lactic acid.
DR   MIM; 245450; phenotype.
DR   MedGen; C1855552.
DR   MeSH; D008661.
//
ID   Danon disease.
AC   DI-00385
AR   DAND.
DE   DAND is a lysosomal glycogen storage disease characterized by the
DE   clinical triad of cardiomyopathy, vacuolar myopathy and intellectual
DE   disability. It is often associated with an accumulation of glycogen in
DE   muscle and lysosomes.
SY   Glycogen storage disease IIb.
SY   GSD2B.
SY   GSD-IIb.
SY   Lysosomal glycogen storage disease without acid maltase deficiency.
SY   Pseudoglycogenosis II.
SY   Vacuolar cardiomyopathy and myopathy X-linked.
DR   MIM; 300257; phenotype.
DR   MedGen; C0878677.
DR   MeSH; D052120.
KW   KW-0322:Glycogen storage disease.
//
ID   Darier disease.
AC   DI-01473
AR   DD.
DE   A skin disorder characterized by warty papules and plaques in
DE   seborrheic areas (central trunk, flexures, scalp and forehead),
DE   palmoplantar pits and distinctive nail abnormalities. It is due to
DE   loss of adhesion between epidermal cells (acantholysis) and abnormal
DE   keratinization. Patients with mild disease may have no more than a few
DE   scattered keratotic papules or subtle nail changes, whereas those with
DE   severe disease are handicapped by widespread malodorous keratotic
DE   plaques. Some patients present with hemorrhage into acantholytic
DE   vesicles on the palms and dorsal aspects of the fingers which gives
DE   rise to black macules. In a few families affected by Darier disease,
DE   neuropsychiatric abnormalities such as mild intellectual disability,
DE   schizophrenia, bipolar disorder and epilepsy have been reported.
DE   Stress, UV exposure, heat, sweat, friction and oral contraception
DE   exacerbate disease symptoms. Clinical variants of Darier disease
DE   include hypertrophic, vesicobullous, hypopigmented, cornifying,
DE   zosteriform or linear, acute and comedonal subtypes. Comedonal Darier
DE   disease is characterized by the coexistence of acne-like comedonal
DE   lesions with typical Darier hyperkeratotic papules on light-exposed
DE   areas. At histopathologic level, comedonal Darier disease differs from
DE   classic Darier disease in the prominent follicular involvement and the
DE   presence of greatly elongated dermal villi.
SY   DAR.
SY   Darier disease acral hemorrhagic type.
SY   Darier disease segmental.
SY   Darier-White disease.
SY   Keratosis follicularis.
DR   MIM; 124200; phenotype.
DR   MedGen; C0022595.
DR   MedGen; C1852296.
DR   MedGen; C1852297.
DR   MeSH; D007644.
//
ID   De Sanctis-Cacchione syndrome.
AC   DI-00389
AR   DSC.
DE   An autosomal recessive syndrome consisting of xeroderma pigmentosum
DE   associated with severe neurological and developmental involvement. In
DE   addition to the clinical signs of xeroderma pigmentosum, patients
DE   present with intellectual disability, dwarfism, gonadal hypoplasia,
DE   microcephaly and various neurologic complications of early onset.
SY   Xerodermic idiocy.
SY   Xerodermic idiocy of de Sanctis and Cacchione.
DR   MIM; 278800; phenotype.
DR   MedGen; C0265201.
DR   MeSH; D008607.
DR   MeSH; D014983.
KW   KW-0242:Dwarfism.
KW   KW-0857:Xeroderma pigmentosum.
KW   KW-0991:Intellectual disability.
//
ID   Deafness and myopia.
AC   DI-03969
AR   DFNMYP.
DE   An autosomal recessive disorder characterized by prelingual
DE   sensorineural hearing loss associated with high myopia.
DR   MIM; 221200; phenotype.
DR   MedGen; C1857342.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
//
ID   Deafness with labyrinthine aplasia, microtia and microdontia.
AC   DI-01475
AR   LAMM.
DE   Unique autosomal recessive syndrome characterized by type I microtia,
DE   microdontia, and profound congenital deafness associated with a
DE   complete absence of inner ear structures (Michel aplasia).
SY   Congenital deafness with inner ear agenesis, microtia and microdontia.
DR   MIM; 610706; phenotype.
DR   MedGen; C1853144.
//
ID   Deafness, aminoglycoside-induced.
AC   DI-05233
AR   DFNI.
DE   A form of sensorineural deafness characterized by moderate-to-profound
DE   hearing loss and mitochondrial inheritance. It is induced by exposure
DE   to aminoglycosides.
SY   Deafness, streptomycin-induced.
SY   Streptomycin ototoxicity.
DR   MIM; 580000; phenotype.
DR   MedGen; C1838854.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant 1, with or without thrombocytopenia.
AC   DI-00831
AR   DFNA1.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. Patients may have mild thrombocytopenia
DE   and enlarged platelets, although most of DFNA1 affected individuals do
DE   not have significant bleeding tendencies.
SY   Hereditary low-frequency hearing loss.
SY   Hereditary low-frequency sensorineural hearing loss.
SY   Konigsmark syndrome.
SY   LFHL1.
SY   LFSNHL1.
SY   Non-syndromic neurosensory deafness autosomal dominant type 1.
SY   Non-syndromic sensorineural deafness autosomal dominant type 1.
DR   MIM; 124900; phenotype.
DR   MedGen; C1852282.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.
AC   DI-01013
AR   DFNHCM.
DE   An autosomal dominant sensorineural deafness associated with
DE   hypertrophic cardiomyopathy.
DR   MIM; 606346; phenotype.
DR   MedGen; C3149009.
DR   MeSH; D002312.
DR   MeSH; D006319.
KW   KW-0122:Cardiomyopathy.
KW   KW-0209:Deafness.
//
ID   Deafness, autosomal dominant, 10.
AC   DI-00840
AR   DFNA10.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 10.
SY   Non-syndromic sensorineural deafness autosomal dominant type 10.
DR   MIM; 601316; phenotype.
DR   MedGen; C1832476.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 11.
AC   DI-00841
AR   DFNA11.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA11 is characterized by onset after
DE   complete speech acquisition and subsequent gradual progression.
SY   Non-syndromic sensorineural deafness autosomal dominant type 11.
DR   MIM; 601317; phenotype.
DR   MedGen; C1832475.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 12.
AC   DI-00842
AR   DFNA12.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness autosomal dominant 8.
SY   DFNA8.
SY   Non-syndromic sensorineural deafness autosomal dominant type 12.
DR   MIM; 601543; phenotype.
DR   MedGen; C1832187.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 13.
AC   DI-00843
AR   DFNA13.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 13.
SY   Non-syndromic sensorineural deafness autosomal dominant type 13.
DR   MIM; 601868; phenotype.
DR   MedGen; C1866095.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 15.
AC   DI-00844
AR   DFNA15.
DE   A form of non-syndromic hearing loss with variable phenotype in terms
DE   of age at onset, levels of progression, and shape of audiograms.
DR   MIM; 602459; phenotype.
DR   MedGen; C1865366.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 17.
AC   DI-00845
AR   DFNA17.
DE   A form of deafness characterized by progressive high frequency hearing
DE   impairment and cochleosaccular degeneration.
SY   cochleosaccular degeneration.
DR   MIM; 603622; phenotype.
DR   MedGen; C1863659.
DR   MedGen; C1863660.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 20.
AC   DI-00846
AR   DFNA20.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness autosomal dominant 26.
SY   DFNA26.
SY   Non-syndromic neurosensory deafness autosomal dominant type 20.
SY   Non-syndromic sensorineural deafness autosomal dominant type 20.
DR   MIM; 604717; phenotype.
DR   MedGen; C1858172.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 21.
AC   DI-06409
AR   DFNA21.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA21 is an autosomal dominant,
DE   progressive form with incomplete penetrance. Age at onset ranges from
DE   infancy to late adulthood.
DR   MIM; 607017; phenotype.
DR   MedGen; C1846922.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 22.
AC   DI-00847
AR   DFNA22.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA22 is progressive and postlingual,
DE   with onset during childhood. By the age of approximately 50 years,
DE   affected individuals invariably have profound sensorineural deafness.
SY   Non-syndromic neurosensory deafness autosomal dominant type 22.
SY   Non-syndromic sensorineural deafness autosomal dominant type 22.
DR   MIM; 606346; phenotype.
DR   MedGen; C1853441.
DR   MedGen; C2931767.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 23.
AC   DI-01205
AR   DFNA23.
DE   A form of non-syndromic deafness characterized by prelingual,
DE   bilateral, symmetric hearing loss with a conductive component present
DE   in some but not all patients.
DR   MIM; 605192; phenotype.
DR   MedGen; C1854594.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 25.
AC   DI-00848
AR   DFNA25.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA25 expression is variable in terms of
DE   onset and rate of progression, with an age-dependent penetrance
DE   resembling an early-onset presbycusis, or senile deafness, a
DE   progressive bilateral loss of hearing that occurs in the aged.
SY   Non-syndromic neurosensory deafness autosomal dominant type 25.
SY   Non-syndromic sensorineural deafness autosomal dominant type 25.
DR   MIM; 605583; phenotype.
DR   MedGen; C1854158.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 27.
AC   DI-05689
AR   DFNA27.
DE   A form of non-syndromic deafness characterized by postlingual,
DE   progressive, moderate to profound sensorineural hearing loss.
DR   MIM; 612431; phenotype.
DR   MedGen; C3887929.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 28.
AC   DI-00849
AR   DFNA28.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA28 is characterized by mild to
DE   moderate hearing loss across most frequencies that progresses to
DE   severe loss in the higher frequencies by the fifth decade.
SY   Non-syndromic neurosensory deafness autosomal dominant type 28.
SY   Non-syndromic sensorineural deafness autosomal dominant type 28.
DR   MIM; 608641; phenotype.
DR   MedGen; C1837640.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 2A.
AC   DI-00832
AR   DFNA2A.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 2A.
SY   Non-syndromic sensorineural deafness autosomal dominant type 2A.
DR   MIM; 600101; phenotype.
DR   MedGen; C2677637.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 2B.
AC   DI-00833
AR   DFNA2B.
DE   A form of non-syndromic sensorineural deafness characterized by
DE   progressive high frequency hearing loss in adulthood, with milder
DE   expression in females.
DR   MIM; 612644; phenotype.
DR   MedGen; C2675236.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 34, with or without inflammation.
AC   DI-05146
AR   DFNA34.
DE   A form of sensorineural hearing loss. Sensorineural deafness results
DE   from damage to the neural receptors of the inner ear, the nerve
DE   pathways to the brain, or the area of the brain that receives sound
DE   information. DFNA34 is a postlingual, slowly progressive form with
DE   variable severity and variable additional features. Some DFNA34
DE   patients have autoinflammatory manifestations.
DR   MIM; 617772; phenotype.
DR   MedGen; CN653906.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 36.
AC   DI-00850
AR   DFNA36.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA36 is a bilateral hearing loss, and
DE   begins at 5-10 years of age. It progresses to profound deafness within
DE   10-15 years.
SY   Non-syndromic neurosensory deafness autosomal dominant type 36.
SY   Non-syndromic sensorineural deafness autosomal dominant type 36.
DR   MIM; 606705; phenotype.
DR   MedGen; C1847626.
DR   MedGen; C3502293.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 37.
AC   DI-05635
AR   DFNA37.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA37 is a slowly progressive,
DE   postlingual form.
DR   MIM; 618533; phenotype.
DR   MedGen; CN262182.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1.
AC   DI-01206
AR   DFNA39/DGI1.
DE   A disorder characterized by the association of progressive
DE   sensorineural high-frequency hearing loss with dentinogenesis
DE   imperfecta.
SY   DFNA39/dentinogenesis imperfecta 1 syndrome.
SY   DFNA39/DGI1 syndrome.
SY   DGI1/DFNA39 syndrome.
DR   MIM; 605594; phenotype.
DR   MedGen; C1854146.
DR   MeSH; D003811.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
//
ID   Deafness, autosomal dominant, 3A.
AC   DI-00834
AR   DFNA3A.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 3A.
SY   Non-syndromic sensorineural deafness autosomal dominant type 3A.
DR   MIM; 601544; phenotype.
DR   MedGen; C2675750.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 3B.
AC   DI-00835
AR   DFNA3B.
DE   A form of non-syndromic sensorineural hearing loss characterized by a
DE   variable phenotype, ranging from bilateral middle to high frequency
DE   hearing loss to profound sensorineural deafness. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 3B.
SY   Non-syndromic sensorineural deafness autosomal dominant type 3B.
DR   MIM; 612643; phenotype.
DR   MedGen; C2675237.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 40.
AC   DI-04417
AR   DFNA40.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 616357; phenotype.
DR   MedGen; CN230313.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 41.
AC   DI-03966
AR   DFNA41.
DE   A form of non-syndromic deafness characterized by onset of progressive
DE   sensorineural hearing loss usually in the second decade. The hearing
DE   loss is severe and ultimately affects all frequencies. Exposure to
DE   noise exacerbates the hearing loss, particularly at high frequencies.
DR   MIM; 608224; phenotype.
DR   MedGen; C1842371.
DR   MeSH; D003638.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 44.
AC   DI-01220
AR   DFNA44.
DE   A form of non-syndromic deafness characterized by initially moderate
DE   hearing loss that affects mainly low to mid frequencies. Later, it
DE   progresses to involve all the frequencies and leads to a profound
DE   hearing loss by the 6th decade.
DR   MIM; 607453; phenotype.
DR   MedGen; C1843895.
DR   MeSH; D003638.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 48.
AC   DI-00851
AR   DFNA48.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness autosomal dominant due to mutation in MYO1A.
SY   Non-syndromic neurosensory deafness autosomal dominant type 48.
SY   Non-syndromic sensorineural deafness autosomal dominant type 48.
DR   MIM; 607841; phenotype.
DR   MedGen; C1842939.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 4A.
AC   DI-00836
AR   DFNA4A.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness autosomal dominant 4.
SY   DFNA4.
SY   Non-syndromic neurosensory deafness autosomal dominant type 4.
SY   Non-syndromic sensorineural deafness autosomal dominant type 4.
DR   MIM; 600652; phenotype.
DR   MedGen; C1833503.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 4B.
AC   DI-03419
AR   DFNA4B.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 614614; phenotype.
DR   MedGen; C3281297.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 5.
AC   DI-00837
AR   DFNA5.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 5.
SY   Non-syndromic sensorineural deafness autosomal dominant type 5.
DR   MIM; 600994; phenotype.
DR   MedGen; C1832932.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 56.
AC   DI-04030
AR   DFNA56.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA56 is characterized by progressive
DE   hearing impairment with postlingual onset.
DR   MIM; 615629; phenotype.
DR   MedGen; C3810170.
DR   MedGen; CN184361.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 6.
AC   DI-00838
AR   DFNA6.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA6 is a low-frequency hearing loss in
DE   which frequencies of 2000 Hz and below are predominantly affected.
DE   Many patients have tinnitus, but there are otherwise no associated
DE   features such as vertigo. Because high-frequency hearing is generally
DE   preserved, patients retain excellent understanding of speech, although
DE   presbycusis or noise exposure may cause high-frequency loss later in
DE   life. DFNA6 worsens over time without progressing to profound
DE   deafness.
SY   Deafness autosomal dominant 14.
SY   Deafness autosomal dominant 38.
SY   DFNA14.
SY   DFNA38.
SY   Non-syndromic neurosensory deafness autosomal dominant type 6.
SY   Non-syndromic sensorineural deafness autosomal dominant type 6.
DR   MIM; 600965; phenotype.
DR   MedGen; C1833021.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 64.
AC   DI-03231
AR   DFNA64.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal dominant type 64.
SY   Non-syndromic sensorineural deafness autosomal dominant type 64.
DR   MIM; 614152; phenotype.
DR   MedGen; C3279948.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 65.
AC   DI-04244
AR   DFNA65.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA65 is characterized by postlingual
DE   onset of slowly progressive hearing loss in the third decade.
DE   Initially affecting the high frequencies, the hearing loss eventually
DE   affects all frequencies and results in severe to profound deafness in
DE   the seventh decade. Vestibular function is normal.
DR   MIM; 616044; phenotype.
DR   MedGen; CN220131.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 66.
AC   DI-04729
AR   DFNA66.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 616969; phenotype.
DR   MedGen; CN236722.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 67.
AC   DI-04416
AR   DFNA67.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 616340; phenotype.
DR   MedGen; CN230132.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 68.
AC   DI-04600
AR   DFNA68.
DE   A form of non-syndromic sensorineural hearing loss with postlingual
DE   onset. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
DR   MIM; 616707; phenotype.
DR   MedGen; CN234588.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 7.
AC   DI-05774
AR   DFNA7.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA7 is a progressive form with highly
DE   variable age at onset and severity, even within families. The age at
DE   onset ranges from congenital to mid-adulthood.
DR   MIM; 601412; phenotype.
DR   MedGen; C1832379.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 70.
AC   DI-04728
AR   DFNA70.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA70 is characterized by slowly
DE   progressive, postlingual hearing impairment.
DR   MIM; 616968; phenotype.
DR   MedGen; CN236721.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 71.
AC   DI-05058
AR   DFNA71.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA71 is characterized by bilateral mild
DE   to moderate hearing loss before age 20 years, which gradually
DE   progresses to severe to profound hearing loss.
DR   MIM; 617605; phenotype.
DR   MedGen; CN381219.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 72.
AC   DI-05059
AR   DFNA72.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA72 primarily affects the middle
DE   frequencies. It gradually progresses to whole-frequency hearing loss.
DR   MIM; 617606; phenotype.
DR   MedGen; CN381220.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 73.
AC   DI-05089
AR   DFNA73.
DE   A form of non-syndromic hearing loss characterized by mild to severe
DE   bilateral symptoms with variable age of onset from early childhood to
DE   the third decade.
DR   MIM; 617663; phenotype.
DR   MedGen; CN461628.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 74.
AC   DI-05344
AR   DFNA74.
DE   A form of non-syndromic deafness characterized by progressive,
DE   postlingual hearing loss with onset in the third decade of life.
SY   Deafness, autosomal dominant 74.
DR   MIM; 618140; phenotype.
DR   MedGen; CN257925.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 75.
AC   DI-05761
AR   DFNA75.
DE   A form of non-syndromic deafness characterized by late-onset hearing
DE   loss that involves mid and high frequencies, and progresses to
DE   encompass all frequencies.
DR   MIM; 618778; phenotype.
DR   MedGen; CN263282.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 76.
AC   DI-05762
AR   DFNA76.
DE   A form of non-syndromic deafness characterized by mild to profound
DE   sensorineural hearing loss and variable age at onset. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 618787; phenotype.
DR   MedGen; CN263293.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 77.
AC   DI-05859
AR   DFNA77.
DE   A form of non-syndromic deafness characterized by adult onset of
DE   bilateral, postlingual, mild-to-severe sensorineural hearing loss.
DE   Sensorineural hearing loss results from damage to the neural receptors
DE   of the inner ear, the nerve pathways to the brain, or the area of the
DE   brain that receives sound information.
DR   MIM; 618915; phenotype.
DR   MedGen; CN282602.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 78.
AC   DI-05957
AR   DFNA78.
DE   A form of non-syndromic deafness characterized by congenital, profound
DE   bilateral sensorineural hearing loss affecting all frequencies. Some
DE   patients may have mild motor delay early in life due to vestibular
DE   dysfunction. Sensorineural hearing loss results from damage to the
DE   neural receptors of the inner ear, the nerve pathways to the brain, or
DE   the area of the brain that receives sound information.
DR   MIM; 619081; phenotype.
DR   MedGen; CN293443.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 79.
AC   DI-05958
AR   DFNA79.
DE   A form of non-syndromic, progressive sensorineural hearing loss.
DE   Sensorineural hearing loss results from damage to the neural receptors
DE   of the inner ear, the nerve pathways to the brain, or the area of the
DE   brain that receives sound information. DFNA79 affected females appear
DE   to have milder hearing loss than males.
DR   MIM; 619086; phenotype.
DR   MedGen; CN293445.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 80.
AC   DI-06082
AR   DFNA80.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA80 is characterized by severe inner
DE   ear malformations, bilateral cochlear aplasia and absent eighth
DE   cranial nerve.
DR   MIM; 619274; phenotype.
DR   MedGen; CN296336.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 81.
AC   DI-06210
AR   DFNA81.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DNFA81 is characterized by postlingual
DE   onset of slowly progressive deafness.
DR   MIM; 619500; phenotype.
DR   MedGen; CN300360.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 82.
AC   DI-06372
AR   DFNA82.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DNFA82 is characterized by onset of
DE   rapidly progressive bilateral sensorineural hearing loss usually early
DE   in the first decade.
DR   MIM; 619804; phenotype.
DR   MedGen; CN307254.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 83.
AC   DI-06384
AR   DFNA83.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DNFA83 is characterized by progressive,
DE   mild to profound hearing loss.
DR   MIM; 619808; phenotype.
DR   MedGen; CN307961.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 84.
AC   DI-06385
AR   DFNA84.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA84 is characterized by slowly
DE   progressive, postlingual hearing loss.
DR   MIM; 619810; phenotype.
DR   MedGen; CN307959.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 85.
AC   DI-06578
AR   DFNA85.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA85 is characterized by progressive
DE   hearing loss, with onset in childhood or young adulthood.
DR   MIM; 620227; phenotype.
DR   MedGen; CN323173.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 86.
AC   DI-06614
AR   DFNA86.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA86 is characterized by progressive,
DE   bilateral hearing loss that is most predominant in the high
DE   frequencies, begins mildly during the fourth decade and gradually
DE   progresses to severe-to-profound deafness in the seventh and eighth
DE   decades. Affected subjects have tinnitus, while vestibular dysfunction
DE   or other clinical abnormalities are not present.
DR   MIM; 620280; phenotype.
DR   MedGen; CN323707.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 87.
AC   DI-06615
AR   DFNA87.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA87 is characterized by prelingual,
DE   profound sensorineural hearing loss with inner ear anomalies,
DE   including cochlear maldevelopment, absence of the osseous spiral
DE   lamina, and/or an enlarged vestibular aqueduct.
DR   MIM; 620281; phenotype.
DR   MedGen; CN323708.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 88.
AC   DI-06616
AR   DFNA88.
DE   A form of non-syndromic, sensorineural hearing loss. Sensorineural
DE   hearing loss results from damage to the neural receptors of the inner
DE   ear, the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNA88 is characterized by postlingual,
DE   progressive and severe hearing loss with tinnitus.
DR   MIM; 620283; phenotype.
DR   MedGen; CN323709.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 89.
AC   DI-06625
AR   DFNA89.
DE   An autosomal dominant form of non-syndromic deafness characterized by
DE   progressive hearing loss, with onset at birth or early childhood.
DR   MIM; 620284; phenotype.
DR   MedGen; CN323706.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, 9.
AC   DI-00839
AR   DFNA9.
DE   A form of non-syndromic hearing loss characterized by onset in the
DE   fourth or fifth decade of life and initially involves the high
DE   frequencies. Hearing loss is progressive and usually complete by the
DE   sixth decade. In addition to cochlear involvement, DFNA9 patients also
DE   exhibit a spectrum of vestibular dysfunctions. Penetrance of the
DE   vestibular symptoms is often incomplete, and some patients are
DE   minimally affected, whereas others suffer from severe balance
DE   disturbances and episodes of vertigo. Affected individuals have
DE   mucopolysaccharide depositions in the channels of the cochlear and
DE   vestibular nerves. These depositions apparently cause strangulation
DE   and degeneration of dendritic fibers.
DR   MIM; 601369; phenotype.
DR   MedGen; C1832425.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal dominant, without vestibular involvement.
AC   DI-02065
AR   DFNAWVI.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 609006; phenotype.
DR   MedGen; C3149566.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 100.
AC   DI-05551
AR   DFNB100.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   prelingual hearing impairment. Sensorineural deafness results from
DE   damage to the neural receptors of the inner ear, the nerve pathways to
DE   the brain, or the area of the brain that receives sound information.
DR   MIM; 618422; phenotype.
DR   MedGen; CN258377.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 101.
AC   DI-04121
AR   DFNB101.
DE   A form of non-syndromic deafness characterized by bilateral, moderate
DE   to severe hearing loss. Vestibular function is unaffected.
DR   MIM; 615837; phenotype.
DR   MedGen; CN188273.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 102.
AC   DI-04190
AR   DFNB102.
DE   A form of non-syndromic deafness characterized by profound hearing
DE   loss affecting all frequencies. Vestibular function is unaffected.
DR   MIM; 615974; phenotype.
DR   MedGen; CN219004.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 103.
AC   DI-04268
AR   DFNB103.
DE   A form of sensorineural deafness with onset in early childhood.
DE   Hearing impairment progresses from mild to severe or even profound
DE   before the second decade, and is accompanied by vestibular areflexia.
DR   MIM; 616042; phenotype.
DR   MedGen; CN221349.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 104.
AC   DI-04500
AR   DFNB104.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 616515; phenotype.
DR   MedGen; CN232324.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 106.
AC   DI-05056
AR   DFNB106.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 617637; phenotype.
DR   MedGen; CN414511.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 107.
AC   DI-05057
AR   DFNB107.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 617639; phenotype.
DR   MedGen; CN417138.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 108.
AC   DI-05055
AR   DFNB108.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 617654; phenotype.
DR   MedGen; CN427418.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 109.
AC   DI-05261
AR   DFNB109.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   bilateral, congenital, severe to profound hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNB109 affected individuals additionally
DE   exhibit vestibular dysplasia, although they do not manifest problems
DE   with balance or movement.
DR   MIM; 618013; phenotype.
DR   MedGen; CN248519.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 110.
AC   DI-05316
AR   DFNB110.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   prelingual hearing loss. Sensorineural deafness results from damage to
DE   the neural receptors of the inner ear, the nerve pathways to the
DE   brain, or the area of the brain that receives sound information.
DE   DFNB110 affected individuals additionally exhibit mild, age-dependent
DE   vestibular dysfunction.
DR   MIM; 618094; phenotype.
DR   MedGen; CN253427.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 111.
AC   DI-05349
AR   DFNB111.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   early-onset, moderate to severe hearing loss with no vestibular
DE   involvement. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
DR   MIM; 618145; phenotype.
DR   MedGen; CN257732.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 112.
AC   DI-05438
AR   DFNB112.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   postlingual progressive hearing impairment. Sensorineural deafness
DE   results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 618257; phenotype.
DR   MedGen; CN257532.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 113.
AC   DI-05550
AR   DFNB113.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   postlingual progressive hearing impairment. Sensorineural deafness
DE   results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 618410; phenotype.
DR   MedGen; CN258343.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 114.
AC   DI-05583
AR   DFNB114.
DE   A form of non-syndromic deafness characterized by congenital profound
DE   sensorineural hearing loss. Sensorineural deafness results from damage
DE   to the neural receptors of the inner ear, the nerve pathways to the
DE   brain, or the area of the brain that receives sound information.
DR   MIM; 618456; phenotype.
DR   MedGen; CN258818.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 115.
AC   DI-05584
AR   DFNB115.
DE   A form of non-syndromic deafness characterized by severe sensorineural
DE   hearing impairment in early childhood. Sensorineural deafness results
DE   from damage to the neural receptors of the inner ear, the nerve
DE   pathways to the brain, or the area of the brain that receives sound
DE   information.
DR   MIM; 618457; phenotype.
DR   MedGen; CN258819.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 116.
AC   DI-05964
AR   DFNB116.
DE   A form of non-syndromic deafness characterized by slowly progressive,
DE   moderate to profound sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 619093; phenotype.
DR   MedGen; CN293454.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 117.
AC   DI-06028
AR   DFNB117.
DE   A form of non-syndromic deafness characterized by prelingual,
DE   moderate-to-profound sensorineural hearing loss. Sensorineural hearing
DE   loss results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 619174; phenotype.
DR   MedGen; CN295244.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 118, with cochlear aplasia.
AC   DI-06233
AR   DFNB118.
DE   A form of non-syndromic deafness characterized by congenital profound
DE   sensorineural hearing loss and cochlear aplasia. Sensorineural hearing
DE   loss results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 619553; phenotype.
DR   MedGen; CN300600.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 119.
AC   DI-06271
AR   DFNB119.
DE   A form of non-syndromic deafness characterized by mild to profound
DE   sensorineural hearing loss. Sensorineural hearing loss results from
DE   damage to the neural receptors of the inner ear, the nerve pathways to
DE   the brain, or the area of the brain that receives sound information.
DR   MIM; 619615; phenotype.
DR   MedGen; CN304366.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 12.
AC   DI-00862
AR   DFNB12.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Congenital neurosensory deafness autosomal recessive 12.
SY   Non-syndromic neurosensory deafness autosomal recessive type 12.
SY   Non-syndromic sensorineural deafness autosomal recessive type 12.
DR   MIM; 601386; phenotype.
DR   MedGen; C1832394.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 120.
AC   DI-06605
AR   DFNB120.
DE   A form of non-syndromic deafness characterized by congenital or
DE   prelingual onset of severe to profound sensorineural hearing loss.
DE   Sensorineural hearing loss results from damage to the neural receptors
DE   of the inner ear, the nerve pathways to the brain, or the area of the
DE   brain that receives sound information.
DR   MIM; 620238; phenotype.
DR   MedGen; CN323203.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 15.
AC   DI-03190
AR   DFNB15.
DE   A form of non-syndromic sensorineural hearing loss with prelingual
DE   onset. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
SY   Deafness autosomal recessive 72.
SY   Deafness autosomal recessive 95.
SY   DFNB72.
SY   DFNB95.
SY   Non-syndromic neurosensory deafness autosomal recessive type 15.
SY   Non-syndromic sensorineural deafness autosomal recessive type 15.
DR   MIM; 601869; phenotype.
DR   MedGen; C1866094.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 16.
AC   DI-00863
AR   DFNB16.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 16.
SY   Non-syndromic sensorineural deafness autosomal recessive type 16.
DR   MIM; 603720; phenotype.
DR   MedGen; C1863561.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 18A.
AC   DI-00864
AR   DFNB18A.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 18.
SY   Non-syndromic sensorineural deafness autosomal recessive type 18.
DR   MIM; 602092; phenotype.
DR   MedGen; C1865870.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 18B.
AC   DI-03621
AR   DFNB18B.
DE   A form of non-syndromic deafness characterized by a moderate hearing
DE   impairment, which can be associated with vestibular dysfunction, and a
DE   flat to shallow 'U' or slightly downsloping shaped audiograms.
DR   MIM; 614945; phenotype.
DR   MedGen; C3554163.
DR   MeSH; D034381.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 1A.
AC   DI-00852
AR   DFNB1A.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness digenic GJB2/GJB3.
SY   Deafness digenic GJB2/GJB6.
SY   Deafness neurosensory autosomal recessive 1.
SY   Non-syndromic neurosensory deafness autosomal recessive type 1.
SY   Non-syndromic sensorineural deafness autosomal recessive type 1.
SY   NSRD1.
DR   MIM; 220290; phenotype.
DR   MedGen; C2673759.
DR   MedGen; C2673760.
DR   MedGen; C2673761.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 1B.
AC   DI-00853
AR   DFNB1B.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness digenic GJB2/GJB6.
SY   Deafness neurosensory autosomal recessive 1.
SY   Non-syndromic neurosensory deafness autosomal recessive type 1.
SY   Non-syndromic sensorineural deafness autosomal recessive type 1.
SY   NSRD1.
DR   MIM; 612645; phenotype.
DR   MedGen; C2675235.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 2.
AC   DI-00854
AR   DFNB2.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness neurosensory autosomal recessive 2.
SY   Neurosensory nonsyndromic recessive deafness 2.
SY   Non-syndromic neurosensory deafness autosomal recessive type 2.
SY   Non-syndromic sensorineural deafness autosomal recessive type 2.
SY   NSRD2.
DR   MIM; 600060; phenotype.
DR   MedGen; C1838701.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 21.
AC   DI-00865
AR   DFNB21.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 21.
SY   Non-syndromic sensorineural deafness autosomal recessive type 21.
DR   MIM; 603629; phenotype.
DR   MedGen; C1863655.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 22.
AC   DI-00866
AR   DFNB22.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 22.
SY   Non-syndromic sensorineural deafness autosomal recessive type 22.
DR   MIM; 607039; phenotype.
DR   MedGen; C1846896.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 23.
AC   DI-00867
AR   DFNB23.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 23.
SY   Non-syndromic sensorineural deafness autosomal recessive type 23.
DR   MIM; 609533; phenotype.
DR   MedGen; C1836027.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 24.
AC   DI-02066
AR   DFNB24.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 611022; phenotype.
DR   MedGen; C1970239.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 25.
AC   DI-02537
AR   DFNB25.
DE   A form of non-syndromic sensorineural deafness characterized by
DE   moderate to severe or profound hearing loss which is progressive in
DE   some individuals but not in others. Speech development is impaired in
DE   some but not all affected individuals, and vestibular dysfunction is
DE   observed in some affected individuals. Sensorineural deafness results
DE   from damage to the neural receptors of the inner ear, the nerve
DE   pathways to the brain, or the area of the brain that receives sound
DE   information.
DR   MIM; 613285; phenotype.
DR   MedGen; C1414017.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 26.
AC   DI-05262
AR   DFNB26.
DE   A form of non-syndromic sensorineural deafness characterized by
DE   prelingual, severe to profound hearing loss. Sensorineural deafness
DE   results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 605428; phenotype.
DR   MedGen; C1854275.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 28.
AC   DI-00868
AR   DFNB28.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 28.
SY   Non-syndromic sensorineural deafness autosomal recessive type 28.
DR   MIM; 609823; phenotype.
DR   MedGen; C1853276.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 29.
AC   DI-00869
AR   DFNB29.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 29.
SY   Non-syndromic sensorineural deafness autosomal recessive type 29.
DR   MIM; 614035; phenotype.
DR   MedGen; C3279660.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 3.
AC   DI-00855
AR   DFNB3.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness neurosensory autosomal recessive 3.
SY   Neurosensory nonsyndromic recessive deafness 3.
SY   Non-syndromic neurosensory deafness autosomal recessive type 3.
SY   Non-syndromic sensorineural deafness autosomal recessive type 3.
SY   NSRD3.
DR   MIM; 600316; phenotype.
DR   MedGen; C1838263.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 30.
AC   DI-00870
AR   DFNB30.
DE   A form of non-syndromic deafness characterized by bilateral
DE   progressive hearing loss, which first affects the high frequencies.
DE   Hearing loss begins in the second decade, and by age 50 is severe in
DE   high and middle frequencies and moderate at low frequencies.
DR   MIM; 607101; phenotype.
DR   MedGen; C1846784.
DR   MeSH; D003638.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 31.
AC   DI-00871
AR   DFNB31.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 31.
SY   Non-syndromic sensorineural deafness autosomal recessive type 31.
DR   MIM; 607084; phenotype.
DR   MedGen; C1846839.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 32, with or without immotile sperm.
AC   DI-05341
AR   DFNB32.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNB32 is characterized by prelingual,
DE   progressive, moderate to profound sensorineural deafness. Some
DE   affected men are infertile.
SY   Deafness, autosomal recessive 105.
SY   Hearing impairment and infertile male syndrome.
SY   HIIMS.
DR   MIM; 608653; phenotype.
DR   MedGen; C1837608.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 35.
AC   DI-00872
AR   DFNB35.
DE   A form of non-syndromic deafness characterized by non-progressive,
DE   prelingual hearing loss.
DR   MIM; 608565; phenotype.
DR   MedGen; C1837857.
DR   MeSH; D003638.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 36, with or without vestibular involvement.
AC   DI-00873
AR   DFNB36.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNB36 is characterized by prelingual,
DE   profound hearing loss, and vestibular areflexia in some patients.
SY   Non-syndromic neurosensory deafness autosomal recessive type 36.
SY   Non-syndromic sensorineural deafness autosomal recessive type 36.
DR   MIM; 609006; phenotype.
DR   MedGen; C1837007.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 37.
AC   DI-00874
AR   DFNB37.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Congenital neurosensory deafness autosomal recessive 37.
SY   Non-syndromic neurosensory deafness autosomal recessive type 37.
SY   Non-syndromic sensorineural deafness autosomal recessive type 37.
DR   MIM; 607821; phenotype.
DR   MedGen; C1843028.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 39.
AC   DI-02477
AR   DFNB39.
DE   A form of profound prelingual sensorineural hearing loss.
DE   Sensorineural deafness results from damage to the neural receptors of
DE   the inner ear, the nerve pathways to the brain, or the area of the
DE   brain that receives sound information.
SY   Congenital neurosensory deafness autosomal recessive 39.
SY   Non-syndromic neurosensory deafness autosomal recessive type 39.
SY   Non-syndromic sensorineural deafness autosomal recessive type 39.
DR   MIM; 608265; phenotype.
DR   MedGen; C1842342.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 4.
AC   DI-00856
AR   DFNB4.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNB4 is associated with an enlarged
DE   vestibular aqueduct.
SY   Deafness neurosensory autosomal recessive 4.
SY   Enlarged vestibular aqueduct.
SY   EVA.
SY   Neurosensory nonsyndromic recessive deafness 4.
SY   Non-syndromic neurosensory deafness autosomal recessive type 4.
SY   Non-syndromic sensorineural deafness autosomal recessive type 4.
SY   NSRD4.
DR   MIM; 600791; phenotype.
DR   MedGen; C1863752.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 42.
AC   DI-03029
AR   DFNB42.
DE   A prelingual, non-progressive form of non-syndromic sensorineural
DE   hearing loss. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
SY   Congenital neurosensory deafness autosomal recessive 42.
SY   Non-syndromic neurosensory deafness autosomal recessive type 42.
SY   Non-syndromic sensorineural deafness autosomal recessive type 42.
DR   MIM; 609646; phenotype.
DR   MedGen; C1864818.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 44.
AC   DI-04170
AR   DFNB44.
DE   A form of non-syndromic deafness characterized by prelingual profound
DE   hearing loss affecting all frequencies.
DR   MIM; 610154; phenotype.
DR   MedGen; C1857809.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 48.
AC   DI-03551
AR   DFNB48.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNB48 patients have prelingual onset of
DE   severe to profound sensorineural hearing loss affecting all
DE   frequencies.
SY   Non-syndromic neurosensory deafness autosomal recessive type 48.
SY   Non-syndromic sensorineural deafness autosomal recessive type 48.
DR   MIM; 609439; phenotype.
DR   MedGen; C1836199.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 49.
AC   DI-00875
AR   DFNB49.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 49.
SY   Non-syndromic sensorineural deafness autosomal recessive type 49.
DR   MIM; 610153; phenotype.
DR   MedGen; C1857811.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 53.
AC   DI-00876
AR   DFNB53.
DE   A form of non-syndromic sensorineural deafness characterized by
DE   prelingual, profound, non-progressive hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 53.
SY   Non-syndromic sensorineural deafness autosomal recessive type 53.
DR   MIM; 609706; phenotype.
DR   MedGen; C1864746.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 57.
AC   DI-05260
AR   DFNB57.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   symmetric, bilateral hearing loss with onset in early childhood.
DE   Vestibular function is preserved. Sensorineural deafness results from
DE   damage to the neural receptors of the inner ear, the nerve pathways to
DE   the brain, or the area of the brain that receives sound information.
DE   DFNB57 severity ranges from moderate to severe.
DR   MIM; 618003; phenotype.
DR   MedGen; CN248511.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 59.
AC   DI-00877
AR   DFNB59.
DE   A form of sensorineural hearing impairment with absent or severely
DE   abnormal auditory brainstem response but normal otoacoustic emissions
DE   (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies
DE   result from a lesion in the area including the inner hair cells,
DE   connections between the inner hair cells and the cochlear branch of
DE   the auditory nerve, the auditory nerve itself and auditory pathways of
DE   the brainstem.
SY   DFNB59 auditory neuropathy.
DR   MIM; 610220; phenotype.
DR   MedGen; C1857744.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 6.
AC   DI-00857
AR   DFNB6.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness neurosensory autosomal recessive 6.
SY   Neurosensory nonsyndromic recessive deafness 6.
SY   Non-syndromic neurosensory deafness autosomal recessive type 6.
SY   Non-syndromic sensorineural deafness autosomal recessive type 6.
SY   NSRD6.
DR   MIM; 600971; phenotype.
DR   MedGen; C1832992.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 61.
AC   DI-02548
AR   DFNB61.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 61.
SY   Non-syndromic sensorineural deafness autosomal recessive type 61.
DR   MIM; 613865; phenotype.
DR   MedGen; C3151230.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 63.
AC   DI-00878
AR   DFNB63.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Non-syndromic neurosensory deafness autosomal recessive type 63.
SY   Non-syndromic sensorineural deafness autosomal recessive type 63.
DR   MIM; 611451; phenotype.
DR   MedGen; C1969621.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 66.
AC   DI-04549
AR   DFNB66.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 610212; phenotype.
DR   MedGen; C1857750.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 67.
AC   DI-02067
AR   DFNB67.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 610265; phenotype.
DR   MedGen; C1853223.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 68.
AC   DI-04685
AR   DFNB68.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 610419; phenotype.
DR   MedGen; C1835854.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 7.
AC   DI-00858
AR   DFNB7.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness neurosensory autosomal recessive 11.
SY   Deafness neurosensory autosomal recessive 7.
SY   DFNB11.
SY   Non-syndromic neurosensory deafness autosomal recessive type 7.
SY   Non-syndromic sensorineural deafness autosomal recessive type 7.
DR   MIM; 600974; phenotype.
DR   MedGen; C1832978.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration.
AC   DI-03614
AR   DFNB70.
DE   A form of non-syndromic deafness characterized by severe, bilateral
DE   hearing impairment with prelingual onset, resulting in inability to
DE   acquire normal speech. Affected individuals may develop a
DE   neurodegenerative disease in adulthood, including ataxia with loss of
DE   ambulation, optic atrophy, dystonia or spasticity, and cognitive
DE   decline with psychiatric features.
DR   MIM; 614934; phenotype.
DR   MedGen; CN160615.
DR   MeSH; D003638.
KW   KW-0523:Neurodegeneration.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 74.
AC   DI-02958
AR   DFNB74.
DE   A form of non-syndromic sensorineural deafness characterized by
DE   prelingual, bilateral, profound hearing loss. Sensorineural deafness
DE   results from damage to the neural receptors of the inner ear, the
DE   nerve pathways to the brain, or the area of the brain that receives
DE   sound information.
DR   MIM; 613718; phenotype.
DR   MedGen; C2239351.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 76.
AC   DI-03957
AR   DFNB76.
DE   A form of non-syndromic sensorineural deafness, a disorder resulting
DE   from damage to the neural receptors of the inner ear, the nerve
DE   pathways to the brain, or the area of the brain that receives sound
DE   information. DFNB76 affected individuals have onset of progressive
DE   high frequency hearing impairment between birth and 6 years of age.
DE   The hearing loss is severe at high frequencies by adulthood.
DR   MIM; 615540; phenotype.
DR   MedGen; CN181763.
DR   MeSH; D006316.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 77.
AC   DI-02528
AR   DFNB77.
DE   A form of non-syndromic deafness characterized by preserved low-
DE   frequency hearing, and a trend toward mild to moderate mid-frequency
DE   and high-frequency hearing loss during childhood and adolescence.
DE   Hearing loss progresses to become moderate to severe at mid and high
DE   frequencies during adulthood.
SY   Non-syndromic neurosensory deafness autosomal recessive type 77.
DR   MIM; 613079; phenotype.
DR   MedGen; C2746083.
DR   MeSH; D003638.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 79.
AC   DI-02596
AR   DFNB79.
DE   A form of non-syndromic deafness characterized by progressive and
DE   severe sensorineural hearing loss. There are no symptoms of vestibular
DE   dysfunction.
SY   Non-syndromic neurosensory deafness autosomal recessive type 79.
DR   MIM; 613307; phenotype.
DR   MedGen; C2750082.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 8.
AC   DI-00859
AR   DFNB8.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Childhood-onset neurosensory deafness autosomal recessive 8.
SY   Deafness autosomal recessive 10.
SY   Deafness autosomal recessive 8/10.
SY   Deafness neurosensory autosomal recessive 8.
SY   DFNB10.
SY   Neurosensory nonsyndromic recessive deafness 8.
SY   Non-syndromic neurosensory deafness autosomal recessive type 8.
SY   Non-syndromic sensorineural deafness autosomal recessive type 8.
SY   NSRD8.
DR   MIM; 601072; phenotype.
DR   MedGen; C1832827.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 84A.
AC   DI-02691
AR   DFNB84A.
DE   A form of non-syndromic deafness characterized by progressive,
DE   sensorineural hearing loss and vestibular dysfunction.
SY   Deafness autosomal recessive 84.
SY   Deafness autosomal recessive 84A with vestibular dysfunction.
SY   Non-syndromic neurosensory deafness autosomal recessive type 84.
DR   MIM; 613391; phenotype.
DR   MedGen; C3150654.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 84B.
AC   DI-03565
AR   DFNB84B.
DE   A form of non-syndromic deafness characterized by congenital, non-
DE   progressive, sensorineural, symmetric hearing loss. Vestibular
DE   hypofunction is rarely observed.
DR   MIM; 614944; phenotype.
DR   MedGen; C3554159.
DR   MedGen; CN161006.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 86.
AC   DI-04026
AR   DFNB86.
DE   A form of non-syndromic deafness characterized by prelingual onset of
DE   profound sensorineural hearing loss affecting all frequencies.
DR   MIM; 614617; phenotype.
DR   MedGen; CN124880.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 88.
AC   DI-03888
AR   DFNB88.
DE   A form of non-syndromic deafness characterized by prelingual onset of
DE   severe to profound mixed conductive and sensorineural hearing loss.
DR   MIM; 615429; phenotype.
DR   MedGen; CN180160.
DR   MeSH; D046089.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 89.
AC   DI-03865
AR   DFNB89.
DE   A form of non-syndromic deafness characterized by bilateral,
DE   prelingual, moderate to severe hearing loss affecting all frequencies.
DR   MIM; 613916; phenotype.
DR   MedGen; C3151351.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 9.
AC   DI-00860
AR   DFNB9.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
SY   Deafness neurosensory autosomal recessive 9.
SY   Neurosensory nonsyndromic recessive deafness 9.
SY   Non-syndromic neurosensory deafness autosomal recessive type 9.
SY   Non-syndromic recessive hearing loss 9.
SY   NSRD9.
DR   MIM; 601071; phenotype.
DR   MedGen; C1832828.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 91.
AC   DI-02706
AR   DFNB91.
DE   A form of non-syndromic deafness characterized by progressive and age-
DE   dependent sensorineural hearing loss. Vestibular function is normal.
SY   Non-syndromic neurosensory deafness autosomal recessive type 91.
DR   MIM; 613453; phenotype.
DR   MedGen; C3150704.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 93.
AC   DI-03553
AR   DFNB93.
DE   A form of non-syndromic deafness characterized by stable, bilateral,
DE   symmetric, prelingual moderate to severe deafness. Hearing impairment
DE   is slightly more pronounced in the mid-frequencies, resulting in a
DE   distinctive shallow U-shaped audiogram.
SY   Non-syndromic neurosensory deafness autosomal recessive type 93.
DR   MIM; 614899; phenotype.
DR   MedGen; CN159249.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 94.
AC   DI-05552
AR   DFNB94.
DE   A form of non-syndromic, sensorineural deafness characterized by
DE   prelingual, profound, bilateral hearing impairment. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information.
DR   MIM; 618434; phenotype.
DR   MedGen; CN258813.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 97.
AC   DI-04599
AR   DFNB97.
DE   A form of non-syndromic sensorineural hearing loss with prelingual
DE   onset. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
DR   MIM; 616705; phenotype.
DR   MedGen; CN234587.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 98.
AC   DI-03535
AR   DFNB98.
DE   A form of non-syndromic sensorineural hearing loss with prelingual
DE   onset. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
DR   MIM; 614861; phenotype.
DR   MedGen; C3553932.
DR   MedGen; CN158714.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 99.
AC   DI-05585
AR   DFNB99.
DE   A form of non-syndromic deafness characterized by prelingual,
DE   bilateral, severe-to-profound sensorineural hearing loss.
DE   Sensorineural deafness results from damage to the neural receptors of
DE   the inner ear, the nerve pathways to the brain, or the area of the
DE   brain that receives sound information.
DR   MIM; 618481; phenotype.
DR   MedGen; CN260175.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, cataract, impaired intellectual development, and polyneuropathy.
AC   DI-06133
AR   DCIDP.
DE   An autosomal recessive disease characterized by early onset of
DE   deafness, cataract, severe developmental delay, and severely impaired
DE   intellectual development. Patients later develop polyneuropathy of the
DE   lower extremities, associated with depigmentation of the hair in that
DE   area.
DR   MIM; 619354; phenotype.
DR   MedGen; CN296938.
DR   MeSH; D009422.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Deafness, congenital heart defects, and posterior embryotoxon.
AC   DI-05252
AR   DCHE.
DE   An autosomal dominant disease characterized by mild to severe combined
DE   hearing loss, congenital heart defects, and posterior embryotoxon, a
DE   corneal abnormality consisting of a central collagen core surrounded
DE   by a thin layer of Descemets membrane and separated from the anterior
DE   chamber by a layer of endothelium. Congenital heart defects include
DE   tetralogy of Fallot, ventricular septal defect, or isolated peripheral
DE   pulmonic stenosis.
DR   MIM; 617992; phenotype.
DR   MedGen; C1866053.
DR   MeSH; D000013.
KW   KW-0209:Deafness.
//
ID   Deafness, congenital, and adult-onset progressive leukoencephalopathy.
AC   DI-06032
AR   DEAPLE.
DE   An autosomal recessive, complex neurodegenerative disorder
DE   characterized by congenital sensorineural deafness, and progressive
DE   motor and cognitive decline apparent in young adulthood. Brain imaging
DE   shows diffuse white matter abnormalities affecting various brain
DE   regions, consistent with a progressive leukoencephalopathy. More
DE   variable additional features may include visual impairment and axonal
DE   peripheral neuropathy. Premature death may occurr in some patients.
DR   MIM; 619196; phenotype.
DR   MedGen; CN295785.
DR   MeSH; D056784.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
//
ID   Deafness, congenital, unilateral or asymmetric.
AC   DI-04598
AR   DCUA.
DE   An autosomal dominant form of non-syndromic, sensorineural deafness
DE   characterized by inability to hear affecting one ear. Some patients
DE   suffers from asymmetric, bilateral hearing loss.
DR   MIM; 616697; phenotype.
DR   MedGen; CN234669.
DR   MeSH; D006319.
DR   MeSH; D046088.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, congenital, with onychodystrophy, autosomal dominant.
AC   DI-04735
AR   DDOD.
DE   An autosomal dominant syndrome characterized mainly by congenital
DE   sensorineural hearing loss accompanied by dystrophic or absent nails.
DE   Coniform teeth, selective tooth agenesis, and hands and feet
DE   abnormalities are present in some patients.
SY   DDOD  syndrome.
DR   MIM; 124480; phenotype.
DR   MedGen; C2675730.
DR   MeSH; D003638.
DR   MeSH; D009264.
DR   MeSH; D014071.
KW   KW-0209:Deafness.
//
ID   Deafness, dystonia, and cerebral hypomyelination.
AC   DI-03930
AR   DDCH.
DE   An X-linked recessive syndrome characterized by sensorineural
DE   deafness, intellectual disability, dysmorphic facial features,
DE   dystonia, pyramidal signs, almost no psychomotor development, and
DE   hypomyelination on brain imaging.
DR   MIM; 300475; phenotype.
DR   MedGen; C1845408.
DR   MeSH; D004421.
DR   MeSH; D006319.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.
AC   DI-03992
AR   DOORS.
DE   A syndrome characterized by sensorineural deafness, intellectual
DE   disability, hypoplastic or absent nails, small or absent distal
DE   phalanges of hands and feet. Additional features include coarse
DE   facies, a large nose with wide nasal bridge, bulbous tip and
DE   anteverted nares, a long prominent philtrum and downturned corners of
DE   the mouth. Progressive neurological manifestations include seizures
DE   from infancy, optic atrophy, and peripheral polyneuropathy.
SY   Brachydactyly due to absence of distal phalanges.
SY   Digitorenocerebral syndrome.
SY   DOOR syndrome.
SY   DRC syndrome.
SY   Eronen syndrome.
DR   MIM; 220500; phenotype.
DR   MedGen; C0795934.
DR   MedGen; C1857345.
DR   MeSH; D006319.
DR   MeSH; D008607.
DR   MeSH; D009260.
DR   MeSH; D012640.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0209:Deafness.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Deafness, sensorineural, mitochondrial.
AC   DI-02887
AR   DFNM.
DE   A form of non-syndromic deafness with maternal inheritance. Affected
DE   individuals manifest progressive, postlingual, sensorineural hearing
DE   loss involving high frequencies.
DR   MIM; 500008; phenotype.
DR   MedGen; C3151897.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, X-linked, 1.
AC   DI-02690
AR   DFNX1.
DE   A form of deafness characterized by progressive, severe-to-profound
DE   sensorineural hearing loss in males. Females manifest mild to moderate
DE   hearing loss.
SY   Congenital sensorineural deafness X-linked 2.
SY   DFN2.
DR   MIM; 304500; phenotype.
DR   MedGen; C1844677.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, X-linked, 2.
AC   DI-02441
AR   DFNX2.
DE   A form of deafness characterized by both conductive hearing loss
DE   resulting from stapes (perilymphatic gusher) fixation, and progressive
DE   sensorineural deafness.
SY   Deafness 3 conductive with stapes fixation.
SY   Deafness conductive with stapes fixation.
SY   Deafness mixed with perilymphatic gusher.
SY   Deafness mixed with perilymph Gusher X-linked.
SY   DFN3.
SY   Nance deafness.
SY   Perilymphatic gusher-deafness syndrome.
SY   X-linked mixed conductive and neurosensory deafness.
SY   X-linked mixed conductive and sensorineural deafness.
DR   MIM; 304400; phenotype.
DR   MedGen; C2677850.
DR   MeSH; D046089.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, X-linked, 4.
AC   DI-03162
AR   DFNX4.
DE   A non-syndromic form of sensorineural, progressive hearing loss with
DE   postlingual onset. In affected males, the auditory impairment affects
DE   initially high-frequency hearing. It later evolves to become severe to
DE   profound and affects all frequencies. Carrier females manifest
DE   moderate hearing impairment in the high frequencies.
SY   Deafness nonsyndromic sensorineural progressive 6.
SY   Deafness X-linked 6 progressive.
SY   DFN6.
DR   MIM; 300066; phenotype.
DR   MedGen; C1848204.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, X-linked, 5, with peripheral neuropathy.
AC   DI-04610
AR   DFNX5.
DE   A form of hearing loss characterized by absent or severely abnormal
DE   auditory brainstem response, abnormal middle ear reflexes, abnormal
DE   speech discrimination, loss of outer hair cell function, and cochlear
DE   nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with
DE   childhood onset, associated with distal sensory impairment affecting
DE   the peripheral nervous system.
SY   Auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy.
SY   AUNX1.
DR   MIM; 300614; phenotype.
DR   MedGen; C1845095.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
//
ID   Deafness, X-linked, 6.
AC   DI-04012
AR   DFNX6.
DE   A non-syndromic form of sensorineural hearing loss with prelingual
DE   onset. Sensorineural deafness results from damage to the neural
DE   receptors of the inner ear, the nerve pathways to the brain, or the
DE   area of the brain that receives sound information.
DR   MIM; 300914; phenotype.
DR   MedGen; C3806737.
DR   MedGen; CN184127.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, X-linked, 7.
AC   DI-05369
AR   DFNX7.
DE   A congenital form of bilateral mixed or conductive hearing loss, which
DE   is progressive in some patients. Additional clinical features include
DE   ear anomalies and facial dysmorphism with bilateral ptosis.
DR   MIM; 301018; phenotype.
DR   MedGen; CN257788.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
//
ID   Deafness, Y-linked 2.
AC   DI-05525
AR   DFNY2.
DE   A form of non-syndromic sensorineural hearing loss. Sensorineural
DE   deafness results from damage to the neural receptors of the inner ear,
DE   the nerve pathways to the brain, or the area of the brain that
DE   receives sound information. DFNY2 patients show bilateral symmetric
DE   hearing loss ranging from mild to severe, with onset in the third to
DE   fifth decades of life.
DR   MIM; 400047; phenotype.
DR   MedGen; CN258289.
DR   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness-infertility syndrome.
AC   DI-01474
AR   DIS.
DE   Characterized by deafness and infertility and is caused by large
DE   contiguous gene deletions at 15q15.3 that removes both STRC and
DE   CATSPER2 genes.
SY   Chromosome 15q15.3 deletion syndrome.
SY   Deafness, sensorineural, and male infertility.
DR   MIM; 611102; phenotype.
DR   MedGen; C1970187.
//
ID   DEEAH syndrome.
AC   DI-05908
AR   DEEAH.
DE   An autosomal recessive disorder characterized by moderate to severe
DE   global developmental delay, impaired intellectual development, poor or
DE   absent speech, and endocrine, pancreatic exocrine and autonomic
DE   dysfunction, as well as hematologic abnormalities. Additional features
DE   include facial dysmorphism, seizures, undescended testes, and distal
DE   skeletal anomalies. Death in early childhood may occur.
SY   Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities.
DR   MIM; 619004; phenotype.
DR   MedGen; CN283361.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   DEGCAGS syndrome.
AC   DI-06209
AR   DEGCAGS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, coarse facial features, and abnormalities
DE   of the cardiovascular, gastrointestinal, genitourinary and skeletal
DE   system. Other common features included anemia or pancytopenia,
DE   immunodeficiency and recurrent infections, and sensorineural hearing
DE   impairment. Death in childhood may occur.
SY   Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
DR   MIM; 619488; phenotype.
DR   MedGen; CN300351.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.
AC   DI-03801
AR   DHS1.
DE   An autosomal dominant hemolytic anemia characterized by primary
DE   erythrocyte dehydration. DHS erythrocytes exhibit decreased total
DE   cation and potassium content that are not accompanied by a
DE   proportional net gain of sodium and water. DHS patients typically
DE   exhibit mild to moderate compensated hemolytic anemia, with an
DE   increased erythrocyte mean corpuscular hemoglobin concentration and a
DE   decreased osmotic fragility, both of which reflect cellular
DE   dehydration. Patients may also show perinatal edema and
DE   pseudohyperkalemia due to loss of potassium from red cells stored at
DE   room temperature. A minor proportion of red cells appear as
DE   stomatocytes on blood films. Complications such as splenomegaly and
DE   cholelithiasis, resulting from increased red cell trapping in the
DE   spleen and elevated bilirubin levels, respectively, may occur. The
DE   course of DHS is frequently associated with iron overload, which may
DE   lead to hepatosiderosis.
SY   Dehydrated hereditary stomatocytosis.
SY   DHS.
SY   Familial pseudohyperkalemia 1 due to red cell leak.
SY   Hereditary desiccytosis.
SY   Hereditary xerocytosis.
SY   Pseudohyperkalemia Edinburgh.
SY   PSHK1.
DR   MIM; 194380; phenotype.
DR   MedGen; C0272051.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Dehydrated hereditary stomatocytosis 2.
AC   DI-04597
AR   DHS2.
DE   An autosomal dominant hemolytic anemia characterized by primary
DE   erythrocyte dehydration. Erythrocytes exhibit decreased total cation
DE   and potassium content that are not accompanied by a proportional net
DE   gain of sodium and water. Affected individuals typically manifest mild
DE   to moderate compensated hemolytic anemia, with an increased
DE   erythrocyte mean corpuscular hemoglobin concentration and a decreased
DE   osmotic fragility, both of which reflect cellular dehydration. Their
DE   red cells exhibit a panel of various shape abnormalities such as
DE   elliptocytes, hemighosts, schizocytes, and very rare stomatocytic
DE   cells. Complications such as splenomegaly and cholelithiasis,
DE   resulting from increased red cell trapping in the spleen and elevated
DE   bilirubin levels, respectively, may occur.
SY   Desiccytosis Gardos.
SY   Xerocytosis Gardos.
DR   MIM; 616689; phenotype.
DR   MedGen; CN233380.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Dejerine-Sottas syndrome.
AC   DI-00387
AR   DSS.
DE   A severe degenerating neuropathy of the demyelinating Charcot-Marie-
DE   Tooth disease category, with onset by age 2 years. Characterized by
DE   motor and sensory neuropathy with very slow nerve conduction
DE   velocities, increased cerebrospinal fluid protein concentrations,
DE   hypertrophic nerve changes, delayed age of walking as well as
DE   areflexia. There are both autosomal dominant and autosomal recessive
DE   forms of Dejerine-Sottas syndrome.
SY   Charcot-Marie-Tooth disease demyelinating type 4F.
SY   Charcot-Marie-Tooth disease type 3.
SY   Charcot-Marie-Tooth disease type 4F.
SY   Charcot-Marie-Tooth neuropathy type 4F.
SY   CMT4F.
SY   Hereditary motor and sensory neuropathy III.
SY   HMSN3.
SY   HMSN III.
SY   Hypertrophic neuropathy of Dejerine-Sottas.
DR   MIM; 145900; phenotype.
DR   MedGen; C0011195.
DR   MedGen; CN069172.
DR   MedGen; CN069174.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0213:Dejerine-Sottas syndrome.
KW   KW-0523:Neurodegeneration.
//
ID   Delayed puberty, self-limited.
AC   DI-06269
AR   DPSL.
DE   A condition defined as the absence of testicular enlargement in boys
DE   or breast development in girls at an age that is 2-2.5 SD later than
DE   the population mean. DPSL is often familial and is highly heritable,
DE   most commonly seen with an autosomal dominant inheritance pattern.
SY   Constitutional delay of puberty.
DR   MIM; 619613; phenotype.
DR   MedGen; CN301235.
DR   MeSH; D011628.
//
ID   Delayed sleep phase syndrome.
AC   DI-03211
AR   DSPS.
DE   A circadian rhythm sleep disorder characterized by sleep-onset
DE   insomnia and difficulty in awakening at the desired time. Patients
DE   with DSPS have chronic difficulty in adjusting their sleep-onset and
DE   wake-up times to occupational, school, and social activities.
DR   MIM; 614163; phenotype.
DR   MedGen; C0393770.
DR   MedGen; C3279991.
DR   MeSH; D020178.
//
ID   Delpire-McNeill syndrome.
AC   DI-05959
AR   DELMNES.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia with delayed or absent walking,
DE   bilateral sensorineural deafness, poor or absent speech, and mild to
DE   severe intellectual disability. Additional variable features may
DE   include spasticity or minor involvement of other organ systems, such
DE   as hip dislocation or ventricular septal defect.
DR   MIM; 619083; phenotype.
DR   MedGen; CN293444.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Dementia, Lewy body.
AC   DI-01901
AR   DLB.
DE   A neurodegenerative disorder characterized by mental impairment
DE   leading to dementia, parkinsonism, fluctuating cognitive function,
DE   visual hallucinations, falls, syncopal episodes, and sensitivity to
DE   neuroleptic medication. Brainstem or cortical intraneuronal
DE   accumulations of aggregated proteins (Lewy bodies) are the only
DE   essential pathologic features. Patients may also have hippocampal and
DE   neocortical senile plaques, sometimes in sufficient number to fulfill
DE   the diagnostic criteria for Alzheimer disease.
SY   Cortical Lewy body disease.
SY   Diffuse Lewy body disease.
SY   Diffuse Lewy body disease with gaze palsy.
SY   Dysphasic dementia hereditary.
SY   Lewy body dementia.
SY   Lewy body type senile dementia.
SY   Lewy body variant of Alzheimer disease.
DR   MIM; 127750; phenotype.
DR   MedGen; C0752347.
DR   MedGen; C1851957.
DR   MedGen; C1851958.
DR   MeSH; D020961.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
//
ID   Den Hoed-de Boer-Voisin syndrome.
AC   DI-06058
AR   DHDBV.
DE   A disorder characterized by global developmental delay, moderately to
DE   severely impaired intellectual development, poor or absent speech,
DE   delayed motor skills, and early-onset epilepsy in many patients. Most
DE   affected individuals have feeding difficulties, poor overall growth,
DE   dysmorphic facial features, and significant dental anomalies
DE   resembling amelogenesis imperfecta. More variable features include
DE   visual defects, behavioral abnormalities, and non-specific involvement
DE   of other organ systems. DHDBV transmission pattern is consistent with
DE   autosomal dominant inheritance with incomplete penetrance and variable
DE   expressivity.
SY   Kohlschutter-Tonz syndrome-like.
SY   KTZSL.
DR   MIM; 619229; phenotype.
DR   MedGen; CN295864.
DR   MeSH; D014071.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Dent disease 1.
AC   DI-00802
AR   DENT1.
DE   An X-linked recessive renal disease belonging to the 'Dent disease
DE   complex', a group of disorders characterized by proximal renal tubular
DE   defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE   spectrum of phenotypic features is remarkably similar in the various
DE   disorders, except for differences in the severity of bone deformities
DE   and renal impairment. DENT1 patients manifest hypercalciuria,
DE   hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis,
DE   renal insufficiency leading to renal failure in adulthood, rickets
DE   (33% of patients) and osteomalacia.
SY   Nephrolithiasis 2.
SY   Nephrolithiasis-hypercalciuria X-linked recessive.
SY   NPHL2.
SY   Urolithiasis, hypercalciuric, X-linked.
DR   MIM; 300009; phenotype.
DR   MedGen; C1848336.
DR   MeSH; D053040.
//
ID   Dent disease 2.
AC   DI-00386
AR   DENT2.
DE   An X-linked renal disease belonging to the 'Dent disease complex', a
DE   group of disorders characterized by proximal renal tubular defect,
DE   hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE   spectrum of phenotypic features is remarkably similar in the various
DE   disorders, except for differences in the severity of bone deformities
DE   and renal impairment. Characteristic abnormalities include low-
DE   molecular-weight proteinuria and other features of Fanconi syndrome,
DE   such as glycosuria, aminoaciduria, and phosphaturia, but typically do
DE   not include proximal renal tubular acidosis. Progressive renal failure
DE   is common, as are nephrocalcinosis and kidney stones.
DR   MIM; 300555; phenotype.
DR   MedGen; C1845167.
DR   MeSH; D015499.
//
ID   Dental anomalies and short stature.
AC   DI-02717
AR   DASS.
DE   A disorder characterized by hypoplastic amelogenesis imperfecta,
DE   significant short stature, brachyolmia-like anomalies including
DE   platyspondyly with short pedicles, narrow intervertebral and
DE   interpedicular distances, rectangular-shaped vertebrae with posterior
DE   scalloping and herniation of the nuclei, and broad femoral necks.
DE   Dental anomalies include widely spaced, small, yellow teeth,
DE   oligodontia, and severely reduced to absent enamel.
SY   Brachyolmia-amelogenesis imperfecta syndrome.
SY   Platyspondyly with amelogenesis imperfecta.
SY   STHAG6.
SY   Tooth agenesis, selective, 6.
SY   VBS.
SY   Verloes Bourguignon syndrome.
DR   MIM; 601216; phenotype.
DR   MedGen; C1832594.
DR   MeSH; D000567.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Dentatorubral-pallidoluysian atrophy.
AC   DI-01476
AR   DRPLA.
DE   Autosomal dominant neurodegenerative disorder characterized by a loss
DE   of neurons in the dentate nucleus, rubrum, glogus pallidus and
DE   Luys'body. Clinical features are myoclonus epilepsy, dementia, and
DE   cerebellar ataxia. Onset of the disease occurs usually in the second
DE   decade of life and death in the fourth.
DR   MIM; 125370; phenotype.
DR   MedGen; C0751781.
DR   MedGen; C2931846.
//
ID   Dentici-Novelli neurodevelopmental syndrome.
AC   DI-06425
AR   DENNED.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay and impaired intellectual development apparent from infancy.
DE   Disease severity is variable. More severely affected individuals have
DE   profound intellectual disability, axial hypotonia, peripheral
DE   spasticity, prenatal and postnatal microcephaly, early-onset seizures,
DE   brain imaging abnormalities, and are unable to walk or speak. Patients
DE   with a less severe phenotype may achieve some developmental goals and
DE   show less severe intellectual disability.
DR   MIM; 619877; phenotype.
DR   MedGen; CN312177.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Dentin dysplasia 1.
AC   DI-03347
AR   DTDP1.
DE   A dental defect in which both primary and secondary dentitions are
DE   affected. The clinical crowns of both permanent and deciduous teeth
DE   are of normal shape, form and color in most cases, although they may
DE   be slightly opalescent and blue or brown. Teeth may be very mobile and
DE   exfoliate spontaneously because of inadequate root formation. On
DE   radiographs, the roots are short and may be more pointed than normal.
DE   Pulp chambers are usually absent except for a chevron-shaped remnant
DE   in the crown. Root canals are usually absent.
SY   Dentin dysplasia Shields type I.
SY   Radicular dentin dysplasia.
SY   Rootless teeth.
DR   MIM; 125400; phenotype.
DR   MedGen; C0399379.
DR   MeSH; D003784.
DR   MeSH; D003805.
//
ID   Dentin dysplasia 1, with extreme microdontia and misshapen teeth.
AC   DI-03348
AR   DTDP1-MMT.
DE   A complex dental malformation characterized by extreme microdontia,
DE   oligodontia, dental shape anomalies affecting both primary and
DE   permanent teeth, double permanent-tooth formation, thin enamel, and
DE   very short roots with a thin associated alveolar bone, as seen in the
DE   spectrum of dentin dysplasia type 1.
SY   Dentin dysplasia Shields type I.
SY   Radicular dentin dysplasia.
SY   Rootless teeth.
DR   MIM; 125400; phenotype.
DR   MedGen; C3276551.
DR   MeSH; D003805.
//
ID   Dentin dysplasia 2.
AC   DI-01477
AR   DTDP2.
DE   A dental defect in which the deciduous teeth are opalescent. The
DE   permanent teeth are of normal shape, form, and color in most cases.
DE   The root length is normal. On radiographs, the pulp chambers of
DE   permanent teeth are obliterated, have a thistle-tube deformity and
DE   contain pulp stones.
SY   Anomalous dysplasia of dentin.
SY   Coronal dentin dysplasia.
SY   Dentin dysplasia Shields type II.
SY   Pulpal dysplasia.
SY   Pulp stones.
DR   MIM; 125420; phenotype.
DR   MedGen; C0399380.
DR   MedGen; C1527284.
DR   MeSH; D003784.
DR   MeSH; D003805.
//
ID   Dentinogenesis imperfecta, Shields type 2.
AC   DI-01479
AR   DGI2.
DE   A form of dentinogenesis imperfecta, an autosomal dominant dentin
DE   disorder characterized by amber-brown, opalescent teeth that fracture
DE   and shed their enamel during mastication, thereby exposing the dentin
DE   to rapid wear. Radiographically, the crown appears bulbous and pulpal
DE   obliteration is common. The pulp chambers are initially larger than
DE   normal prior and immediately after tooth eruption, and then
DE   progressively close down to become almost obliterated by abnormal
DE   dentin formation. Roots are short and thin. Both primary and permanent
DE   teeth are affected. DGI2 is not associated with osteogenesis
DE   imperfecta.
SY   Capdepont teeth.
SY   Dentinogenesis imperfecta 1.
SY   Dentinogenesis imperfecta Shields type II.
SY   Dentinogenesis imperfecta without osteogenesis imperfecta.
SY   DGI1.
SY   DGI-II.
SY   Non-syndromic dentinogenesis imperfecta.
SY   Non-syndromic DGI.
SY   Opalescent dentin.
SY   Opalescent teeth without osteogenesis imperfecta.
DR   MIM; 125490; phenotype.
DR   MedGen; C0205730.
DR   MedGen; C2973527.
DR   MeSH; D003811.
//
ID   Dentinogenesis imperfecta, Shields type 3.
AC   DI-01478
AR   DGI3.
DE   A form of dentinogenesis imperfecta, an autosomal dominant dentin
DE   disorder characterized by amber-brown, opalescent teeth that fracture
DE   and shed their enamel during mastication, thereby exposing the dentin
DE   to rapid wear. Radiographically, the crown appears bulbous and pulpal
DE   obliteration is common. The pulp chambers are initially larger than
DE   normal prior and immediately after tooth eruption, and then
DE   progressively close down to become almost obliterated by abnormal
DE   dentin formation. Roots are short and thin. Both primary and permanent
DE   teeth are affected. DGI3 teeth typically manifest multiple periapical
DE   radiolucencies. DGI3 is not associated with osteogenesis imperfecta.
SY   Brandywine type dentinogenesis imperfecta.
DR   MIM; 125500; phenotype.
DR   MedGen; C0399378.
DR   MeSH; D003811.
//
ID   Denys-Drash syndrome.
AC   DI-01480
AR   DDS.
DE   Typical nephropathy characterized by diffuse mesangial sclerosis,
DE   genital abnormalities, and/or Wilms tumor. There is phenotypic overlap
DE   with WAGR syndrome and Frasier syndrome. Inheritance is autosomal
DE   dominant, but most cases are sporadic.
DR   MIM; 194080; phenotype.
DR   MedGen; C0950121.
//
ID   Dermatitis atopic 2.
AC   DI-01194
AR   ATOD2.
DE   Atopic dermatitis is a complex, inflammatory disease with multiple
DE   alleles at several loci thought to be involved in the pathogenesis. It
DE   commonly begins in infancy or early childhood and is characterized by
DE   a chronic relapsing form of skin inflammation, a disturbance of
DE   epidermal barrier function that culminates in dry skin, and IgE-
DE   mediated sensitization to food and environmental allergens. It is
DE   manifested by lichenification, excoriation, and crusting, mainly on
DE   the flexural surfaces of the elbow and knee.
SY   Atopic eczema.
DR   MIM; 605803; phenotype.
DR   MedGen; C1853965.
DR   MeSH; D003876.
//
ID   Dermatopathia pigmentosa reticularis.
AC   DI-00388
AR   DPR.
DE   A rare ectodermal dysplasia characterized by lifelong persistent
DE   reticulate hyperpigmentation, non-cicatricial alopecia, and nail
DE   dystrophy. Variable features include adermatoglyphia, hypohidrosis or
DE   hyperhidrosis, and palmoplantar hyperkeratosis.
DR   MIM; 125595; phenotype.
DR   MedGen; C0406778.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   DeSanto-Shinawi syndrome.
AC   DI-04620
AR   DESSH.
DE   An autosomal dominant syndrome characterized by developmental delay,
DE   hypotonia, behavioral problems, eye abnormalities, constipation,
DE   feeding difficulties, seizures and sleep problems. Patients exhibit
DE   dysmorphic features, including broad/prominent forehead, synophrys
DE   and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip.
DE   Additional variable features are posteriorly rotated ears, hirsutism,
DE   deep-set eyes, thin upper lip, inverted nipples, hearing loss and
DE   branchial cleft anomalies.
DR   MIM; 616708; phenotype.
DR   MedGen; CN234870.
DR   MeSH; D000015.
//
ID   Desbuquois dysplasia 1.
AC   DI-02521
AR   DBQD1.
DE   A chondrodysplasia characterized by severe prenatal and postnatal
DE   growth retardation (less than -5 SD), joint laxity, short extremities,
DE   progressive scoliosis, round face, midface hypoplasia, prominent
DE   bulging eyes. The main radiologic features are short long bones with
DE   metaphyseal splay, a 'Swedish key' appearance of the proximal femur
DE   (exaggerated trochanter), and advance carpal and tarsal bone age. Two
DE   forms of Desbuquois dysplasia are distinguished on the basis of the
DE   presence or absence of characteristic hand anomalies: an extra
DE   ossification center distal to the second metacarpal, delta phalanx,
DE   bifid distal thumb phalanx, and phalangeal dislocations.
SY   Desbuquois syndrome.
SY   Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification.
DR   MIM; 251450; phenotype.
DR   MedGen; C0432242.
DR   MedGen; C3278482.
DR   MeSH; D004392.
DR   MeSH; D007593.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Desbuquois dysplasia 2.
AC   DI-04114
AR   DBQD2.
DE   A chondrodysplasia characterized by severe prenatal and postnatal
DE   growth retardation (less than -5 SD), joint laxity, short extremities,
DE   progressive scoliosis, round face, midface hypoplasia, prominent
DE   bulging eyes. The main radiologic features are short long bones with
DE   metaphyseal splay, a 'Swedish key' appearance of the proximal femur
DE   (exaggerated trochanter), and advance carpal and tarsal bone age. Two
DE   forms of Desbuquois dysplasia are distinguished on the basis of the
DE   presence or absence of characteristic hand anomalies: an extra
DE   ossification center distal to the second metacarpal, delta phalanx,
DE   bifid distal thumb phalanx, and phalangeal dislocations.
SY   Baratela-Scott syndrome.
DR   MIM; 615777; phenotype.
DR   MedGen; CN186922.
DR   MeSH; D004392.
DR   MeSH; D007593.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Desmoid disease, hereditary.
AC   DI-01711
AR   DESMD.
DE   An autosomal dominant disease characterized by multifocal fibromatosis
DE   of the abdominal wall and mesentery. Desmoid tumors can also affect
DE   paraspinal muscles, breast, occiput, arms, and lower ribs.
SY   Familial infiltrative fibromatosis.
SY   FIF.
DR   MIM; 135290; phenotype.
DR   MedGen; C1851124.
DR   MedGen; C2675440.
DR   MeSH; D000008.
DR   MeSH; D018222.
//
ID   Desmosterolosis.
AC   DI-01482
AR   DESMOS.
DE   Rare autosomal recessive disorder characterized by multiple congenital
DE   anomalies and elevated levels of the cholesterol precursor desmosterol
DE   in plasma, tissue, and cultured cells.
DR   MIM; 602398; phenotype.
DR   MedGen; C1865596.
//
ID   Developmental and epileptic encephalopathy 1.
AC   DI-00471
AR   DEE1.
DE   A severe form of epilepsy characterized by frequent tonic seizures or
DE   spasms beginning in infancy with a specific EEG finding of
DE   suppression-burst patterns, characterized by high-voltage bursts
DE   alternating with almost flat suppression phases. Patients may progress
DE   to West syndrome, which is characterized by tonic spasms with
DE   clustering, arrest of psychomotor development, and hypsarrhythmia on
DE   EEG.
SY   EIEE1.
SY   Epileptic encephalopathy, early infantile, 1.
SY   Infantile epileptic-dyskinetic encephalopathy.
SY   Infantile spasm syndrome X-linked 1.
SY   ISSX1.
SY   Myoclonic epilepsy X-linked with intellectual disability and spasticity.
SY   Ohtahara syndrome X-linked.
SY   West syndrome X-linked.
SY   XMESID.
DR   MIM; 308350; phenotype.
DR   MedGen; C0037769.
DR   MedGen; C2931919.
DR   MedGen; C3463992.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 100.
AC   DI-06361
AR   DEE100.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE100 is an autosomal dominant, severe form
DE   characterized by global developmental delay and onset of variable
DE   types of seizures in the first months or years of life.
DR   MIM; 619777; phenotype.
DR   MedGen; CN307030.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 101.
AC   DI-06373
AR   DEE101.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE101 is an autosomal recessive, severe form
DE   characterized by onset of seizures in early infancy. Death in infancy
DE   may occur.
DR   MIM; 619814; phenotype.
DR   MedGen; CN307272.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 102.
AC   DI-06430
AR   DEE102.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE102 is an autosomal recessive form characterized
DE   by onset of variable types of seizures in infancy.
DR   MIM; 619881; phenotype.
DR   MedGen; CN312435.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 103.
AC   DI-06431
AR   DEE103.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE103 is an autosomal dominant form characterized by
DE   onset of various types of seizures in the first year of life.
DR   MIM; 619913; phenotype.
DR   MedGen; CN315596.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 104.
AC   DI-06457
AR   DEE104.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE104 is an autosomal dominant form characterized by
DE   onset of developmental delay and drug-resistant focal and generalized
DE   tonic-clonic seizures in the first few months of life.
DR   MIM; 619970; phenotype.
DR   MedGen; CN315820.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 105 with hypopituitarism.
AC   DI-06474
AR   DEE105.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE105 is an autosomal recessive form characterized
DE   by onset of seizures in the first weeks or months of life. Affected
DE   individuals have hypopituitarism in association with profoundly
DE   impaired development with almost no acquisition of skills, brain
DE   atrophy, thin corpus callosum, and small pituitary gland.
DR   MIM; 619983; phenotype.
DR   MedGen; CN315914.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 106.
AC   DI-06501
AR   DEE106.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE106 is an autosomal recessive form characterized
DE   by onset of seizures in the first year of life. Affected individuals
DE   have profound global developmental delay, limited ability to move, and
DE   severely impaired intellectual development with absent speech. Non-
DE   specific brain abnormalities may be observed on MRI.
DR   MIM; 620028; phenotype.
DR   MedGen; CN318219.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 107.
AC   DI-06502
AR   DEE107.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE107 is an autosomal recessive form characterized
DE   by onset of seizures in the first months of life. Affected individuals
DE   have severe global developmental delay, profound intellectual
DE   disability, progressive microcephaly, and hypotonia.
DR   MIM; 620033; phenotype.
DR   MedGen; CN320153.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 108.
AC   DI-06547
AR   DEE108.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE108 is an autosomal dominant form characterized by
DE   the onset of multiple types of seizures in the first 2 years of life.
DR   MIM; 620115; phenotype.
DR   MedGen; CN322463.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 109.
AC   DI-06557
AR   DEE109.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE109 is an autosomal dominant form characterized by
DE   the onset of various types of seizures in the first months or years of
DE   life.
DR   MIM; 620145; phenotype.
DR   MedGen; CN322562.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 11.
AC   DI-02993
AR   DEE11.
DE   An autosomal dominant seizure disorder characterized by neonatal or
DE   infantile onset of refractory seizures with resultant delayed
DE   neurologic development and persistent neurologic abnormalities.
DE   Patients may progress to West syndrome, which is characterized by
DE   tonic spasms with clustering, arrest of psychomotor development, and
DE   hypsarrhythmia on EEG.
SY   EIEE11.
SY   Epileptic encephalopathy, early infantile, 11.
DR   MIM; 613721; phenotype.
DR   MedGen; C3150987.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 110.
AC   DI-06558
AR   DEE110.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE110 is an autosomal recessive form characterized
DE   by profound global developmental delay and hypotonia apparent in
DE   infancy followed by onset of seizures in the first months or years of
DE   life.
DR   MIM; 620149; phenotype.
DR   MedGen; CN322563.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 111.
AC   DI-06760
AR   DEE111.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE111 is an autosomal recessive form characterized
DE   by the onset of seizures in the first days, months, or years of life.
DE   Brain imaging shows frontal, parietal, and perisylvian polymicrogyria,
DE   dysmorphic basal ganglia and corpus callosum, and hypoplastic pons.
DE   Death in early childhood may occur.
DR   MIM; 620504; phenotype.
DR   MedGen; CN375466.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 12.
AC   DI-02994
AR   DEE12.
DE   A form of epilepsy characterized by frequent tonic seizures or spasms
DE   beginning in infancy with a specific EEG finding of suppression-burst
DE   patterns, characterized by high-voltage bursts alternating with almost
DE   flat suppression phases. Patients may progress to West syndrome, which
DE   is characterized by tonic spasms with clustering, arrest of
DE   psychomotor development, and hypsarrhythmia on EEG.
SY   EIEE12.
SY   Epileptic encephalopathy, early infantile, 12.
DR   MIM; 613722; phenotype.
DR   MedGen; C3150988.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 13.
AC   DI-03398
AR   DEE13.
DE   A form of epilepsy characterized by frequent tonic seizures or spasms
DE   beginning in infancy with a specific EEG finding of suppression-burst
DE   patterns, characterized by high-voltage bursts alternating with almost
DE   flat suppression phases. Patients may progress to West syndrome, which
DE   is characterized by tonic spasms with clustering, arrest of
DE   psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe
DE   form consisting of early-onset seizures, features of autism,
DE   intellectual disability, ataxia, and sudden unexplained death in
DE   epilepsy.
SY   EIEE13.
SY   Epileptic encephalopathy, early infantile, 13.
DR   MIM; 614558; phenotype.
DR   MedGen; C3281191.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 14.
AC   DI-03632
AR   DEE14.
DE   A rare epileptic encephalopathy of infancy that combines
DE   pharmacoresistant seizures with developmental delay. This severe
DE   neurologic disorder is characterized by onset in the first 6 months of
DE   life of refractory focal seizures and arrest of psychomotor
DE   development. Ictal EEG shows discharges that arise randomly from
DE   various areas of both hemispheres and migrate from one brain region to
DE   another.
SY   EIEE14.
SY   Epileptic encephalopathy, early infantile, 14.
SY   Malignant migrating partial seizures of infancy.
SY   MMPSI.
DR   MIM; 614959; phenotype.
DR   MedGen; C3554195.
DR   MedGen; CN162969.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 15.
AC   DI-03664
AR   DEE15.
DE   A form of epilepsy that manifests in the neonatal or the early
DE   infantile period as severely impaired cognitive and motor development,
DE   due to recurrent clinical seizures or prominent interictal
DE   epileptiform discharges. Patients develop infantile spasms, mainly of
DE   the flexor type, between 3 and 7 months of age, which are accompanied
DE   by hypsarrhythmia on EEG. Other features include poor eye contact,
DE   hypotonia, primitive reflexes, and irritability. Seizures evolve
DE   clinically to Lennox-Gastaut syndrome.
SY   EIEE15.
SY   Epileptic encephalopathy, early infantile, 15.
DR   MIM; 615006; phenotype.
DR   MedGen; C3554316.
DR   MedGen; CN164259.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 16.
AC   DI-03823
AR   DEE16.
DE   A severe autosomal recessive neurologic disorder characterized by
DE   onset of seizures in the first weeks or months of life. Seizures can
DE   be of various types, are unresponsive to medication, last for long
DE   periods of time, and occur frequently. Affected infants show
DE   psychomotor regression or lack of psychomotor development, as well as
DE   other neurologic features such as extrapyramidal signs and hypotonia.
DE   Most die in childhood.
SY   EIEE16.
SY   Epileptic encephalopathy, early infantile, 16.
DR   MIM; 615338; phenotype.
DR   MedGen; C3809173.
DR   MedGen; CN178082.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 17.
AC   DI-03922
AR   DEE17.
DE   A severe neurologic disorder characterized by onset of intractable
DE   seizures in the first weeks or months of life and usually associated
DE   with EEG abnormalities. Affected infants have very poor psychomotor
DE   development and may have brain abnormalities, such as cerebral atrophy
DE   or thin corpus callosum. Some patients may show involuntary movements.
SY   EIEE17.
SY   Epileptic encephalopathy, early infantile, 17.
DR   MIM; 615473; phenotype.
DR   MedGen; C3809606.
DR   MedGen; CN180194.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 18.
AC   DI-03918
AR   DEE18.
DE   A severe autosomal recessive neurologic disorder characterized by lack
DE   of psychomotor development apparent from birth, dysmorphic facial
DE   features, early onset of refractory seizures, and thick corpus
DE   callosum and persistent cavum septum pellucidum on brain imaging.
SY   EIEE18.
SY   Epileptic encephalopathy, early infantile, 18.
DR   MIM; 615476; phenotype.
DR   MedGen; C3809624.
DR   MedGen; CN180198.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 19.
AC   DI-04092
AR   DEE19.
DE   A severe neurologic disorder characterized by onset of seizures in the
DE   first months of life and usually associated with EEG abnormalities.
DE   Affected infants have convulsive seizures (hemiclonic or generalized)
DE   that are often prolonged and triggered by fever. Other seizure types
DE   include focal, myoclonic, absence seizures, and drop attacks.
DE   Development is normal in the first year of life with later slowing and
DE   intellectual disability.
SY   EIEE19.
SY   Epileptic encephalopathy, early infantile, 19.
DR   MIM; 615744; phenotype.
DR   MedGen; C3810400.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 2.
AC   DI-00472
AR   DEE2.
DE   A severe form of epilepsy characterized by seizures or spasms
DE   beginning in infancy. Patients with epileptic encephalopathy early
DE   infantile type 2 manifest features resembling Rett syndrome such as
DE   microcephaly, lack of speech development, stereotypic hand movements.
DE   However, DEE2 and Rett syndrome are considered two distinct entities.
SY   Atypical Rett syndrome CDKL5-related.
SY   Atypical Rett syndrome Hanefeld variant.
SY   EIEE2.
SY   Epileptic encephalopathy, early infantile, 2.
SY   Infantile spasm syndrome X-linked 2.
SY   ISSX2.
SY   Rett syndrome early-onset seizure variant.
SY   Rett syndrome variant with infantile spasms.
DR   MIM; 300672; phenotype.
DR   MedGen; C1839333.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 21.
AC   DI-04123
AR   DEE21.
DE   A severe disease characterized by intractable seizures, profound
DE   global developmental delay, and persistent severe axial hypotonia as
DE   well as appendicular hypertonia.
SY   EIEE21.
SY   Epileptic encephalopathy, early infantile, 21.
DR   MIM; 615833; phenotype.
DR   MedGen; CN188266.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 23.
AC   DI-04135
AR   DEE23.
DE   A severe disease characterized by early-onset intractable epilepsy,
DE   dysmorphic features, intellectual disability, and cortical blindness.
DE   Brain imaging shows an abnormally marked pontobulbar sulcus with mild
DE   pontine hypoplasia, white matter abnormalities, and atrophy in the
DE   occipital lobe.
SY   EIEE23.
SY   Epileptic encephalopathy, early infantile, 23.
DR   MIM; 615859; phenotype.
DR   MedGen; CN189147.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 24.
AC   DI-04145
AR   DEE24.
DE   A disease characterized by early-onset seizures, intellectual
DE   disability of varying degrees, and behavioral disturbances or autistic
DE   features in most individuals.
SY   EIEE24.
SY   Epileptic encephalopathy, early infantile, 24.
DR   MIM; 615871; phenotype.
DR   MedGen; CN189553.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta.
AC   DI-04176
AR   DEE25.
DE   An autosomal recessive disease characterized by subclinical seizures
DE   appearing in the first days of life, evolving to severe epileptic
DE   disease. Affected individuals have profound or severe delayed
DE   development with lack of speech, and most patients do not acquire the
DE   ability to sit. Additional variable features include axial hypotonia,
DE   peripheral hypertonia, and abnormal involuntary movements such as
DE   dystonia and choreoathetosis. Dental abnormalities, including delayed
DE   eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin
DE   enamel, and enamel chipping are observed in most patients.
SY   EIEE25.
SY   Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.
DR   MIM; 615905; phenotype.
DR   MedGen; CN197173.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Developmental and epileptic encephalopathy 26.
AC   DI-04249
AR   DEE26.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE26 patients manifest multiple types of seizures,
DE   delayed psychomotor development, poor or absent speech, hypotonia,
DE   hypsarrhythmia.
SY   EIEE26.
SY   Epileptic encephalopathy, early infantile, 26.
DR   MIM; 616056; phenotype.
DR   MedGen; CN220386.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 27.
AC   DI-04289
AR   DEE27.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE27.
SY   Epileptic encephalopathy, early infantile, 27.
DR   MIM; 616139; phenotype.
DR   MedGen; CN224183.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 28.
AC   DI-04325
AR   DEE28.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE28.
SY   Epileptic encephalopathy, early infantile, 28.
DR   MIM; 616211; phenotype.
DR   MedGen; CN225654.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 29.
AC   DI-04412
AR   DEE29.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE29 patients manifest severe infantile epileptic
DE   encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal
DE   symptoms, and persistently deficient myelination.
SY   EIEE29.
SY   Epileptic encephalopathy, early infantile, 29.
DR   MIM; 616339; phenotype.
DR   MedGen; CN230131.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 3.
AC   DI-00473
AR   DEE3.
DE   A severe form of epilepsy characterized by frequent tonic seizures or
DE   spasms beginning in infancy with a specific EEG finding of
DE   suppression-burst patterns, characterized by high-voltage bursts
DE   alternating with almost flat suppression phases. DEE3 is characterized
DE   by a very early onset, erratic and fragmentary myoclonus, massive
DE   myoclonus, partial motor seizures and late tonic spasms. The prognosis
DE   is poor, with no effective treatment, and children with the condition
DE   either die within 1 to 2 years after birth or survive in a persistent
DE   vegetative state.
SY   Early myoclonic encephalopathy.
SY   EIEE3.
SY   EME.
SY   Epileptic encephalopathy, early infantile, 3.
SY   Neonatal epilepsy with suppression-burst pattern.
DR   MIM; 609304; phenotype.
DR   MedGen; C0270855.
DR   MeSH; D004831.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 30.
AC   DI-04413
AR   DEE30.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE30.
SY   Epileptic encephalopathy, early infantile, 30.
DR   MIM; 616341; phenotype.
DR   MedGen; CN230133.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 31A.
AC   DI-04414
AR   DEE31A.
DE   An autosomal dominant epileptic encephalopathy, a heterogeneous group
DE   of severe early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   DEE31.
SY   Developmental and epileptic encephalopathy 31.
SY   EIEE31.
SY   Epileptic encephalopathy, early infantile, 31.
DR   MIM; 616346; phenotype.
DR   MedGen; CN230178.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 31B.
AC   DI-06666
AR   DEE31B.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE31B is an autosomal recessive form with onset in
DE   the first months of life.
DR   MIM; 620352; phenotype.
DR   MedGen; CN327029.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 32.
AC   DI-04415
AR   DEE32.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE32 inheritance is autosomal dominant.
SY   EIEE32.
SY   Epileptic encephalopathy, early infantile, 32.
DR   MIM; 616366; phenotype.
DR   MedGen; CN230321.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 33.
AC   DI-04447
AR   DEE33.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE33.
SY   Epileptic encephalopathy, early infantile, 33.
DR   MIM; 616409; phenotype.
DR   MedGen; CN231149.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 34.
AC   DI-04577
AR   DEE34.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE34 is characterized by onset of refractory
DE   migrating focal seizures in infancy. Affected children show
DE   developmental regression and are severely impaired globally.
SY   EIEE34.
SY   Epileptic encephalopathy, early infantile, 34.
DR   MIM; 616645; phenotype.
DR   MedGen; CN233362.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 35.
AC   DI-04578
AR   DEE35.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE35 is characterized by onset of seizures in the
DE   first months of life associated with essentially no normal
DE   development. Many patients die in early childhood.
SY   EIEE35.
SY   Epileptic encephalopathy, early infantile, 35.
DR   MIM; 616647; phenotype.
DR   MedGen; CN233260.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 36.
AC   DI-03606
AR   DEE36.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. Some DEE36 patients may present with an abnormal
DE   isoelectric focusing of serum transferrin, consistent with a
DE   diagnostic classification of congenital disorder of glycosylation type
DE   I. Congenital disorders of glycosylation result in a wide variety of
DE   clinical features, such as defects in the nervous system development,
DE   psychomotor retardation, dysmorphic features, hypotonia, coagulation
DE   disorders, and immunodeficiency. The broad spectrum of features
DE   reflects the critical role of N-glycoproteins during embryonic
DE   development, differentiation, and maintenance of cell functions.
SY   CDG1S.
SY   CDGIs.
SY   CDG Is.
SY   CDG-Is.
SY   Congenital disorder of glycosylation 1s.
SY   Congenital disorder of glycosylation type Is.
SY   EIEE36.
SY   Epileptic encephalopathy, early infantile, 36.
DR   MIM; 300884; phenotype.
DR   MedGen; C3550904.
DR   MedGen; CN160488.
DR   MeSH; D013036.
DR   MeSH; D018981.
KW   KW-0887:Epilepsy.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Developmental and epileptic encephalopathy 37.
AC   DI-04748
AR   DEE37.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE37 is an autosomal recessive, severe form
DE   manifesting in the first years of life. Affected individuals show
DE   hyperkinetic movement disorder with choreoathetosis, spasticity,
DE   rigidity, intellectual disability, absent speech, and impaired
DE   volitional movements.
SY   EIEE37.
SY   Epileptic encephalopathy, early infantile, 37.
DR   MIM; 616981; phenotype.
DR   MedGen; CN236795.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 38.
AC   DI-04755
AR   DEE38.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE38 inheritance is autosomal recessive.
SY   EIEE38.
SY   Epileptic encephalopathy, early infantile, 38.
DR   MIM; 617020; phenotype.
DR   MedGen; CN237399.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 39 with leukodystrophy.
AC   DI-02562
AR   DEE39.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE39 is characterized by global hypomyelination of
DE   the central nervous system, with the gray matter appearing relatively
DE   unaffected. Inheritance is autosomal recessive.
SY   AGC1 deficiency.
SY   Aspartate-glutamate carrier 1 deficiency.
SY   EIEE39.
SY   Epileptic encephalopathy, early infantile, 39.
SY   Global cerebral hypomyelination.
SY   Hypomyelination, global cerebral.
DR   MIM; 612949; phenotype.
DR   MedGen; C2751855.
DR   MeSH; D013036.
DR   MeSH; D020279.
//
ID   Developmental and epileptic encephalopathy 4.
AC   DI-00474
AR   DEE4.
DE   A severe form of epilepsy characterized by frequent tonic seizures or
DE   spasms beginning in infancy with a specific EEG finding of
DE   suppression-burst patterns, characterized by high-voltage bursts
DE   alternating with almost flat suppression phases. Affected individuals
DE   have neonatal or infantile onset of seizures, profound intellectual
DE   disability, and MRI evidence of brain hypomyelination.
SY   Early myoclonic encephalopathy.
SY   EIEE4.
SY   EME.
SY   Epileptic encephalopathy, early infantile, 4.
SY   Neonatal epilepsy with suppression-burst pattern.
DR   MIM; 612164; phenotype.
DR   MedGen; C2677326.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 40.
AC   DI-04793
AR   DEE40.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE40 inheritance is autosomal recessive.
SY   EIEE40.
SY   Epileptic encephalopathy, early infantile, 40.
DR   MIM; 617065; phenotype.
DR   MedGen; CN237799.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 41.
AC   DI-04837
AR   DEE41.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE41 inheritance is autosomal dominant.
SY   EIEE41.
SY   Epileptic encephalopathy, early infantile, 41.
DR   MIM; 617105; phenotype.
DR   MedGen; CN238497.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 42.
AC   DI-04836
AR   DEE42.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE42 inheritance is autosomal dominant.
SY   EIEE42.
SY   Epileptic encephalopathy, early infantile, 42.
DR   MIM; 617106; phenotype.
DR   MedGen; CN238498.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 43.
AC   DI-04835
AR   DEE43.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE43 inheritance is autosomal dominant.
SY   EIEE43.
SY   Epileptic encephalopathy, early infantile, 43.
DR   MIM; 617113; phenotype.
DR   MedGen; CN238499.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 44.
AC   DI-04843
AR   DEE44.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE44 transmission pattern is consistent with
DE   autosomal recessive inheritance.
SY   EIEE44.
SY   Epileptic encephalopathy, early infantile, 44.
DR   MIM; 617132; phenotype.
DR   MedGen; CN238683.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 45.
AC   DI-04844
AR   DEE45.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE45.
SY   Epileptic encephalopathy, early infantile, 45.
DR   MIM; 617153; phenotype.
DR   MedGen; CN238694.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 46.
AC   DI-04845
AR   DEE46.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE46.
SY   Epileptic encephalopathy, early infantile, 46.
DR   MIM; 617162; phenotype.
DR   MedGen; CN238793.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 47.
AC   DI-04846
AR   DEE47.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE47.
SY   Epileptic encephalopathy, early infantile, 47.
DR   MIM; 617166; phenotype.
DR   MedGen; CN238825.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 48.
AC   DI-04937
AR   DEE48.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE48 is an autosomal recessive form characterized by
DE   onset of seizures in the first year of life. Affected individuals
DE   manifest global developmental delay, intellectual disability, absent
DE   speech, and poor, if any, motor development.
SY   EIEE48.
SY   Epileptic encephalopathy, early infantile, 48.
DR   MIM; 617276; phenotype.
DR   MedGen; CN239937.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 49.
AC   DI-04919
AR   DEE49.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE49 is a severe autosomal recessive form
DE   characterized by onset of seizures in the neonatal period, global
DE   developmental delay, intellectual disability, and additionally
DE   cerebral calcifications and coarse facial features.
SY   EIEE49.
SY   Epileptic encephalopathy, early infantile, 49.
DR   MIM; 617281; phenotype.
DR   MedGen; CN239940.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 5.
AC   DI-02791
AR   DEE5.
DE   A disorder characterized by seizures associated with hypsarrhythmia,
DE   profound intellectual disability with lack of visual attention and
DE   speech development, as well as spastic quadriplegia.
SY   EIEE5.
SY   Epileptic encephalopathy, early infantile, 5.
DR   MIM; 613477; phenotype.
DR   MedGen; C3150731.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 50.
AC   DI-04479
AR   DEE50.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE50 is an autosomal recessive, progressive disease
DE   with onset in infancy and favorable response to treatment with oral
DE   uridine.
SY   CDG1Z.
SY   Congenital disorder of glycosylation 1Z.
SY   EIEE50.
SY   Epileptic encephalopathy, early infantile, 50.
DR   MIM; 616457; phenotype.
DR   MedGen; CN231447.
DR   MeSH; D013036.
DR   MeSH; D018981.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 51.
AC   DI-04943
AR   DEE51.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE51 is an autosomal recessive form characterized by
DE   onset of intractable seizures and hypotonia in the first days or weeks
DE   of life, and severely delayed psychomotor development.
SY   EIEE51.
SY   Epileptic encephalopathy, early infantile, 51.
DR   MIM; 617339; phenotype.
DR   MedGen; CN240510.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 52.
AC   DI-04944
AR   DEE52.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE52 inheritance is autosomal recessive.
SY   EIEE52.
SY   Epileptic encephalopathy, early infantile, 52.
DR   MIM; 617350; phenotype.
DR   MedGen; CN240662.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 53.
AC   DI-04961
AR   DEE53.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE53 inheritance is autosomal recessive.
SY   EIEE53.
SY   Epileptic encephalopathy, early infantile, 53.
DR   MIM; 617389; phenotype.
DR   MedGen; CN240908.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 54.
AC   DI-04962
AR   DEE54.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent.
SY   EIEE54.
SY   Epileptic encephalopathy, early infantile, 54.
DR   MIM; 617391; phenotype.
DR   MedGen; CN240910.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 55.
AC   DI-05060
AR   DEE55.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE55 is an autosomal recessive condition.
SY   EIEE55.
SY   Epileptic encephalopathy, early infantile, 55.
SY   Glycosylphosphatidylinositol biosynthesis defect 14.
SY   GPIBD14.
DR   MIM; 617599; phenotype.
DR   MedGen; CN368511.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 56.
AC   DI-05090
AR   DEE56.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE56 is an autosomal dominant condition.
SY   EIEE56.
SY   Epileptic encephalopathy, early infantile, 56.
DR   MIM; 617665; phenotype.
DR   MedGen; CN477042.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 57.
AC   DI-05145
AR   DEE57.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE57 is an autosomal dominant condition.
SY   EIEE57.
SY   Epileptic encephalopathy, early infantile, 57.
DR   MIM; 617771; phenotype.
DR   MedGen; CN633295.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 58.
AC   DI-05170
AR   DEE58.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE58 is an autosomal dominant condition
DE   characterized by onset of refractory seizures in the first days or
DE   months of life.
SY   EIEE58.
SY   Epileptic encephalopathy, early infantile, 58.
DR   MIM; 617830; phenotype.
DR   MedGen; CN757795.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 59.
AC   DI-05214
AR   DEE59.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE59 is an autosomal dominant condition
DE   characterized by onset of refractory seizures in early infancy.
SY   EIEE59.
SY   Epileptic encephalopathy, early infantile, 59.
DR   MIM; 617904; phenotype.
DR   MedGen; CN870853.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 60.
AC   DI-05226
AR   DEE60.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE60 is an autosomal recessive condition
DE   characterized by onset of seizures in the first months of life.
SY   EIEE60.
SY   Epileptic encephalopathy, early infantile, 60.
DR   MIM; 617929; phenotype.
DR   MedGen; CN244549.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 61.
AC   DI-05227
AR   DEE61.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE61 is an autosomal recessive condition
DE   characterized by onset of seizures in infancy.
SY   EIEE61.
SY   Epileptic encephalopathy, early infantile, 61.
DR   MIM; 617933; phenotype.
DR   MedGen; CN244550.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 62.
AC   DI-05228
AR   DEE62.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE62 is characterized by onset of seizures in the
DE   first year of life.
SY   EIEE62.
SY   Epileptic encephalopathy, early infantile, 62.
DR   MIM; 617938; phenotype.
DR   MedGen; CN244551.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 63.
AC   DI-05248
AR   DEE63.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE63 is an autosomal recessive disease with onset in
DE   infancy.
SY   EIEE63.
SY   Epileptic encephalopathy, early infantile, 63.
DR   MIM; 617976; phenotype.
DR   MedGen; CN244926.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 64.
AC   DI-05265
AR   DEE64.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE64 is an autosomal dominant form characterized by
DE   onset of seizures usually in the first year of life. Seizure types are
DE   variable and include focal dyscognitive and generalized tonic-clonic
DE   seizures, as well as febrile seizures in the mildest affected
DE   individuals. Seizures tend to respond to medical treatment.
SY   EIEE64.
SY   Epileptic encephalopathy, early infantile, 64.
DR   MIM; 618004; phenotype.
DR   MedGen; CN248512.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 65.
AC   DI-05270
AR   DEE65.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE65 is an autosomal dominant form characterized by
DE   onset of intractable seizures usually in the first 6 months of life
DE   and severe to profound psychomotor developmental delay.
SY   EIEE65.
SY   Epileptic encephalopathy, early infantile, 65.
DR   MIM; 618008; phenotype.
DR   MedGen; CN248516.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 66.
AC   DI-05304
AR   DEE66.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE66 is an autosomal dominant form characterized by
DE   onset of seizures in first days or weeks of life.
SY   EIEE66.
SY   Epileptic encephalopathy, early infantile, 66.
DR   MIM; 618067; phenotype.
DR   MedGen; CN252658.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 67.
AC   DI-05345
AR   DEE67.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE67 is an autosomal dominant form characterized by
DE   onset of seizures in infancy. Later onset of seizures in childhood may
DE   occur in some patients.
SY   EIEE67.
SY   Epileptic encephalopathy, early infantile, 67.
DR   MIM; 618141; phenotype.
DR   MedGen; CN257927.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 68.
AC   DI-05395
AR   DEE68.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE68 is an autosomal recessive form characterized by
DE   onset of twitching and/or myoclonic jerks in infancy. The disorder
DE   progresses to refractory generalized tonic-clonic seizures, often
DE   resulting in status epilepticus, loss of developmental milestones, and
DE   early death. Other features include delayed development, axial
DE   hypotonia, spasticity of the limbs, and clonus.
SY   EIEE68.
SY   Epileptic encephalopathy, early infantile, 68.
DR   MIM; 618201; phenotype.
DR   MedGen; CN257487.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 69.
AC   DI-05449
AR   DEE69.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE69 is an autosomal dominant form characterized by
DE   refractory seizures, hypotonia, and profoundly impaired development
DE   often associated with macrocephaly, hyperkinetic movements, and
DE   contractures. The disorder can sometimes result in early death. Some
DE   patients may have a favorable seizure response to topiramate
DE   medication.
SY   EIEE69.
SY   Epileptic encephalopathy, early infantile, 69.
DR   MIM; 618285; phenotype.
DR   MedGen; CN258122.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 6B.
AC   DI-06102
AR   DEE6B.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE6B is an autosomal dominant condition
DE   characterized by onset of seizures in early infancy, profoundly
DE   impaired intellectual development, and a hyperkinetic movement
DE   disorder.
SY   Developmental and epileptic encephalopathy 6B, non-Dravet.
DR   MIM; 619317; phenotype.
DR   MedGen; CN296778.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 7.
AC   DI-02992
AR   DEE7.
DE   An autosomal dominant seizure disorder characterized by infantile
DE   onset of refractory seizures with resultant delayed neurologic
DE   development and persistent neurologic abnormalities.
SY   EIEE7.
SY   Epileptic encephalopathy, early infantile, 7.
SY   Ohtahara syndrome.
DR   MIM; 613720; phenotype.
DR   MedGen; C3150986.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 70.
AC   DI-05450
AR   DEE70.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE70 is an autosomal dominant form with onset in
DE   first months of life and variable severity.
SY   EIEE70.
SY   Epileptic encephalopathy, early infantile, 70.
DR   MIM; 618298; phenotype.
DR   MedGen; CN258149.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 71.
AC   DI-05482
AR   DEE71.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE71 is an autosomal recessive form with onset at
DE   birth. Death occurs in first weeks of life.
SY   EIEE71.
SY   Epileptic encephalopathy, early infantile, 71.
SY   Glutaminase deficiency with neonatal epileptic encephalopathy.
DR   MIM; 618328; phenotype.
DR   MedGen; CN258210.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 72.
AC   DI-05526
AR   DEE72.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE72 is an autosomal dominant form with variable
DE   severity and onset in infancy.
SY   EIEE72.
SY   Epileptic encephalopathy, early infantile, 72.
DR   MIM; 618374; phenotype.
DR   MedGen; CN258271.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 73.
AC   DI-05527
AR   DEE73.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE73 is an autosomal dominant form with onset at
DE   birth.
SY   EIEE73.
SY   Epileptic encephalopathy, early infantile, 73.
DR   MIM; 618379; phenotype.
DR   MedGen; CN258273.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 74.
AC   DI-05528
AR   DEE74.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE74 is an autosomal dominant form with onset in the
DE   first year of life.
SY   EIEE74.
SY   Epileptic encephalopathy, early infantile, 74.
DR   MIM; 618396; phenotype.
DR   MedGen; CN258293.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 75.
AC   DI-05571
AR   DEE75.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE75 is an autosomal recessive form characterized by
DE   onset of severe refractory seizures in the first months of life.
SY   EIEE75.
SY   Epileptic encephalopathy, early infantile, 75.
DR   MIM; 618437; phenotype.
DR   MedGen; CN258814.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 76.
AC   DI-05592
AR   DEE76.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE76 is an autosomal recessive form that may result
DE   in death in childhood.
SY   EIEE76.
SY   Epileptic encephalopathy, early infantile, 76.
DR   MIM; 618468; phenotype.
DR   MedGen; CN260164.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 78.
AC   DI-05652
AR   DEE78.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE78 is an autosomal dominant form characterized by
DE   onset of refractory seizures in the first days or months of life.
DE   Clinical features include severe developmental delay, hypotonia,
DE   microcephaly, cortical visual impairment and profound intellectual
DE   disability. Some patients manifest a less severe phenotype
DE   characterized by pharmacoresponsive epilepsy, autism spectrum disorder
DE   and moderate intellectual disability.
SY   EIEE78.
SY   Epileptic encephalopathy, early infantile, 78.
DR   MIM; 618557; phenotype.
DR   MedGen; CN262228.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 79.
AC   DI-05653
AR   DEE79.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE79 is an autosomal dominant form characterized by
DE   onset of refractory seizures in the first months of life. Brain
DE   imaging may show hypomyelination, cerebral atrophy and thinning of the
DE   corpus callosum.
SY   EIEE79.
SY   Epileptic encephalopathy, early infantile, 79.
DR   MIM; 618559; phenotype.
DR   MedGen; CN262226.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 8.
AC   DI-01088
AR   DEE8.
DE   A disorder characterized by hyperekplexia and early infantile
DE   epileptic encephalopathy. Neurologic features include exaggerated
DE   startle response, seizures, impaired psychomotor development, and
DE   intellectual disability. Seizures can be provoked by tactile
DE   stimulation or extreme emotion.
SY   EIEE8.
SY   Epileptic encephalopathy, early infantile, 8.
SY   Hyperekplexia with epilepsy.
SY   Startle disease with epilepsy.
DR   MIM; 300607; phenotype.
DR   MedGen; C1845102.
DR   MeSH; D013036.
DR   MeSH; D013216.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 80.
AC   DI-05661
AR   DEE80.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE80 is an autosomal recessive form characterized by
DE   onset of refractory seizures in the first year of life, severe global
DE   developmental delay and/or intellectual disability. Additional
DE   variable features include polyneuropathy, hearing loss, visual
DE   impairment, dysmorphic or coarse facial features, and distal skeletal
DE   abnormalities.
SY   EIEE80.
SY   Epileptic encephalopathy, early infantile, 80.
SY   Glycosylphosphatidylinositol biosynthesis defect 20.
SY   GPIBD20.
DR   MIM; 618580; phenotype.
DR   MedGen; CN262313.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 81.
AC   DI-05696
AR   DEE81.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE81 is an autosomal recessive form characterized by
DE   onset soon after birth, little developmental progress with no eye
DE   contact and no motor or cognitive development. Other features may
DE   include facial dysmorphism, such as hypotonic facies and epicanthal
DE   folds, as well as sensorineural hearing loss and peripheral
DE   neuropathy.
SY   EIEE81.
SY   Epileptic encephalopathy, early infantile, 81.
DR   MIM; 618663; phenotype.
DR   MedGen; CN262871.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 82.
AC   DI-05722
AR   DEE82.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE82 is an autosomal recessive metabolic
DE   encephalopathy characterized by epilepsy from the first year of life,
DE   global developmental delay, hypotonia and feeding difficulties
DE   apparent soon after birth, and intellectual and motor disabilities.
DE   Other features include poor overall growth, progressive microcephaly
DE   and biochemical abnormalities, including increased serum lactate and
DE   ammonia.
SY   Deficiency of mitochondrial glutamate oxaloacetate transaminase.
SY   EIEE82.
SY   Epileptic encephalopathy, early infantile, 82.
SY   GOT2 deficiency.
DR   MIM; 618721; phenotype.
DR   MedGen; CN263109.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 83.
AC   DI-05738
AR   DEE83.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE83 is an autosomal recessive form characterized by
DE   onset of frequent, intractable seizures in the first days to months of
DE   life. Affected individuals have profound developmental delay with no
DE   motor or language skill acquisition, and poor or absent visual
DE   tracking. Many patients die in the first years of life.
SY   Barakat-Perenthaler syndrome.
SY   EIEE83.
SY   Epileptic encephalopathy, early infantile, 83.
DR   MIM; 618744; phenotype.
DR   MedGen; CN263209.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 84.
AC   DI-05769
AR   DEE84.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE84 is an autosomal recessive form characterized by
DE   onset of refractory seizures in the first months of life.
SY   EIEE84.
SY   Epileptic encephalopathy, early infantile, 84.
SY   Jamuar syndrome.
DR   MIM; 618792; phenotype.
DR   MedGen; CN263317.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 85 with or without midline brain defects.
AC   DI-05802
AR   DEE85.
DE   An X-linked form of epileptic encephalopathy, a heterogeneous group of
DE   severe early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE85 is characterized by onset of severe refractory
DE   seizures in the first year of life, global developmental delay with
DE   impaired intellectual development and poor or absent speech, and
DE   dysmorphic facial features. Many patients have midline brain defects
DE   on brain imaging.
SY   EIEE85.
SY   Epileptic encephalopathy, early infantile, 85, with or without midline brain defects.
DR   MIM; 301044; phenotype.
DR   MedGen; CN272932.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 86.
AC   DI-05854
AR   DEE86.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE86 inheritance is autosomal recessive.
SY   EIEE86.
SY   Epileptic encephalopathy, early infantile, 86.
DR   MIM; 618910; phenotype.
DR   MedGen; CN282591.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 87.
AC   DI-05860
AR   DEE87.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   early-onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE87 inheritance is autosomal dominant.
SY   EIEE87.
SY   Epileptic encephalopathy, early infantile, 87.
DR   MIM; 618916; phenotype.
DR   MedGen; CN283238.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 88.
AC   DI-05883
AR   DEE88.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE88 is an autosomal recessive severe form
DE   characterized by global developmental delay, epilepsy, and progressive
DE   microcephaly.
SY   EIEE88.
SY   Epileptic encephalopathy, early infantile, 88.
DR   MIM; 618959; phenotype.
DR   MedGen; CN283282.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 89.
AC   DI-05990
AR   DEE89.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE89 is an autosomal recessive severe form
DE   characterized by profound global developmental delay with impaired
DE   intellectual development, absent speech, inability to sit or walk due
DE   to axial hypotonia and spastic quadriparesis, and onset of seizures in
DE   the first days or months of life.
DR   MIM; 619124; phenotype.
DR   MedGen; CN293592.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 9.
AC   DI-01533
AR   DEE9.
DE   A condition characterized by seizure with onset in infancy or early
DE   childhood, cognitive impairment, and delayed development of variable
DE   severity in some patients. Additional features include autistic signs
DE   and psychosis. The disorder is sex-limited, with the phenotype being
DE   restricted to females.
SY   EFMR.
SY   EIEE9.
SY   Epileptic encephalopathy, early infantile, 9.
DR   MIM; 300088; phenotype.
DR   MedGen; C1848137.
DR   MeSH; D008607.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 90.
AC   DI-06025
AR   DEE90.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE90 is an X-linked form characterized by onset of
DE   refractory seizures in the first days or months of life.
DR   MIM; 301058; phenotype.
DR   MedGen; CN295287.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 94.
AC   DI-03857
AR   DEE94.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE94 is an autosomal dominant, severe form
DE   characterized by onset of multiple seizure types in the first few
DE   years of life.
SY   EEOC.
SY   Epileptic encephalopathy, childhood-onset.
DR   MIM; 615369; phenotype.
DR   MedGen; C3809278.
DR   MedGen; CN178848.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Developmental and epileptic encephalopathy 96.
AC   DI-06117
AR   DEE96.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE96 is an autosomal dominant form characterized by
DE   onset of seizures in the first days or weeks of life. Affected infants
DE   also have hypotonia with respiratory insufficiency that may result in
DE   premature death.
DR   MIM; 619340; phenotype.
DR   MedGen; CN296895.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 97.
AC   DI-06248
AR   DEE97.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE97 is an autosomal dominant form.
DR   MIM; 619561; phenotype.
DR   MedGen; CN300807.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 98.
AC   DI-06264
AR   DEE98.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE98 is an autosomal dominant form characterized by
DE   onset of seizures in the first decade.
DR   MIM; 619605; phenotype.
DR   MedGen; CN301232.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental and epileptic encephalopathy 99.
AC   DI-06265
AR   DEE99.
DE   A form of epileptic encephalopathy, a heterogeneous group of early-
DE   onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. DEE99 is an autosomal dominant form characterized by
DE   onset of seizures in early childhood.
DR   MIM; 619606; phenotype.
DR   MedGen; CN301233.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay and seizures with or without movement abnormalities.
AC   DI-05179
AR   DEDSM.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, variable intellectual disability, and
DE   early-onset seizures with a myoclonic component. Most patients have
DE   delayed motor development and show abnormal movements, including
DE   ataxia, dystonia, and tremor.
DR   MIM; 617836; phenotype.
DR   MedGen; CN769090.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with dysmorphic facies and dental anomalies.
AC   DI-06057
AR   DEFDA.
DE   A disorder characterized by mild global developmental delay, impaired
DE   intellectual development, walking by 2 to 3 years, and slow language
DE   acquisition.The severity of the disorder ranges from moderate
DE   cognitive deficits to mild learning difficulties or behavioral
DE   abnormalities. Most patients have dysmorphic facial features, abnormal
DE   dentition and non-specific visual defects. DEFDA transmission pattern
DE   is consistent with autosomal dominant inheritance with incomplete
DE   penetrance and variable expressivity.
DR   MIM; 619228; phenotype.
DR   MedGen; CN295863.
DR   MeSH; D014071.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with hypotonia, myopathy, and brain abnormalities.
AC   DI-06607
AR   DEDHMB.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay and muscle weakness apparent in infancy,
DE   microcephaly, seizures, central hypotonia, and skeletal muscle
DE   myopathy. Brain imaging shows cerebral atrophy, thinning of the corpus
DE   callosum, and delayed myelination.
DR   MIM; 620240; phenotype.
DR   MedGen; CN323357.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with or without dysmorphic facies and autism.
AC   DI-05586
AR   DEDDFA.
DE   An autosomal dominant neurodevelopmental disorder apparent from
DE   infancy or early childhood. Some patients present with intellectual
DE   disability and renal, cardiac, genitourinary systems, as well as
DE   structural brain abnormalities. In some cases, the phenotype is less
DE   severe, has no systemic involvement and is characterized by autism
DE   spectrum disorder and/or intellectual disability, sometimes associated
DE   with epilepsy. Affected individuals manifest variable dysmorphic
DE   features.
DR   MIM; 618454; phenotype.
DR   MedGen; CN259075.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Developmental delay with or without intellectual impairment or behavioral abnormalities.
AC   DI-06244
AR   DDIB.
DE   An autosomal dominant disorder characterized by a highly variable
DE   phenotype of developmental delay, intellectual disability, learning or
DE   behavioral problems, muscular hypotonia, and neonatal feeding
DE   difficulties.
DR   MIM; 619575; phenotype.
DR   MedGen; CN301040.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with short stature, dysmorphic facial features, and sparse hair 1.
AC   DI-04703
AR   DEDSSH1.
DE   An autosomal recessive syndrome characterized by intellectual
DE   disability, short stature, and craniofacial and ectodermal anomalies
DE   including scaphocephaly with or without craniosynostosis, prominent
DE   forehead, sparse eyebrows and hair, hypoplastic toenails and, in some
DE   cases, dental anomalies.
SY   Diphthamide deficiency syndrome 1.
SY   Loucks-Innes syndrome.
DR   MIM; 616901; phenotype.
DR   MedGen; CN236358.
DR   MeSH; D001848.
DR   MeSH; D004476.
DR   MeSH; D008607.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Developmental delay with short stature, dysmorphic facial features, and sparse hair 2.
AC   DI-06516
AR   DEDSSH2.
DE   An autosomal recessive syndrome characterized by developmental delay
DE   with variably impaired intellectual development and speech delay,
DE   short stature, abnormal head circumference, dysmorphic facial
DE   features, and sparse scalp hair. Affected individuals may have other
DE   abnormalities, including congenital cardiac defects and distal
DE   skeletal anomalies.
SY   Diphthamide deficiency syndrome 2.
DR   MIM; 620062; phenotype.
DR   MedGen; CN322057.
DR   MeSH; D001848.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Developmental delay with variable intellectual disability and dysmorphic facies.
AC   DI-06542
AR   DIDDF.
DE   An autosomal dominant disorder characterized by various degrees of
DE   developmental delay, mild to moderate intellectual disability,
DE   learning difficulties, hypotonia, autistic features, behavior
DE   abnormalities, and dysmorphic facial features apparent from infancy or
DE   early childhood.
DR   MIM; 620098; phenotype.
DR   MedGen; CN322372.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with variable intellectual impairment and behavioral abnormalities.
AC   DI-05566
AR   DDVIBA.
DE   An autosomal dominant disorder characterized by impaired intellectual
DE   development with speech difficulties, dysmorphic features, and
DE   behavioral abnormalities including autism spectrum disorder, attention
DE   deficit and hyperactivity. Additional variable features may include
DE   hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal
DE   anomalies, sleep disturbances, movement disorders, and
DE   gastrointestinal issues, such as constipation.
DR   MIM; 618430; phenotype.
DR   MedGen; CN258437.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay with variable neurologic and brain abnormalities.
AC   DI-06311
AR   DENBA.
DE   An autosomal dominant disorder characterized by onset of motor and
DE   speech delay in early childhood. Disease severity and clinical
DE   manifestations are highly variable. Most patients have delayed walking
DE   and variably impaired intellectual development. Additional features
DE   may include seizures, spasticity, and ocular abnormalities. Brain
DE   imaging often shows thin corpus callosum and may show white matter
DE   atrophy, myelination abnormalities, or enlarged ventricles.
DR   MIM; 619694; phenotype.
DR   MedGen; CN305919.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay, behavioral abnormalities, and neuropsychiatric disorders.
AC   DI-06517
AR   DEDBANP.
DE   An autosomal dominant disorder characterized by mild global
DE   developmental delay, normal or variably impaired intellectual
DE   development, and behavioral or neuropsychiatric disorders, including
DE   autism spectrum disorder, attention deficit-hyperactivity disorder,
DE   and executive functioning deficits. Additional features may include
DE   speech delay, dysmorphic features, hypotonia, sleep disturbances, and
DE   seizures.
DR   MIM; 620065; phenotype.
DR   MedGen; CN322275.
DR   MeSH; D001848.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Developmental delay, hypotonia, and impaired language.
AC   DI-06489
AR   DEDHIL.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, borderline to severe intellectual
DE   disability, language difficulties, hypotonia, and gastrointestinal
DE   problems. Brain imaging shows variable structural abnormalities
DE   affecting the cerebellum, corpus collosum, and white matter.
DR   MIM; 620012; phenotype.
DR   MedGen; CN315965.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities.
AC   DI-06262
AR   DEHMBA.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   speech delay, mild to severe intellectual disability, hypotonia,
DE   musculoskeletal features, and behavioral abnormalities including
DE   autistic features. Skeletal anomalies include joint hypermobility,
DE   chronic musculoskeletal pain, scoliosis, and pectus defects. Affected
DE   individuals also have non-specific and variable dysmorphic facial
DE   features.
DR   MIM; 619595; phenotype.
DR   MedGen; CN301221.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy.
AC   DI-06005
AR   DIGFAN.
DE   An autosomal dominant disease characterized by developmental delay,
DE   intellectual disability, hypotonia, poor growth, short stature,
DE   microcephaly, and variable craniofacial dysmorphism. Patients often
DE   present weakness, hyporeflexia, and electrophysiologic abnormalities
DE   consistent with an axonal sensorimotor peripheral neuropathy.
DE   Additional features may include hearing loss, pigmentary retinopathy,
DE   and abnormalities on brain imaging, including cerebral or cerebellar
DE   atrophy, hypomyelination, and lesions in the basal ganglia or
DE   brainstem. Disease severity is highly variable.
DR   MIM; 619090; phenotype.
DR   MedGen; CN293638.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0622:Neuropathy.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay, impaired speech, and behavioral abnormalities.
AC   DI-06193
AR   DDISBA.
DE   An autosomal dominant disorder characterized by developmental delay
DE   with speech impairment, mild to severe intellectual disability, and
DE   behavioral abnormalities including autistic features. Additional
DE   variable manifestations may include dysmorphic facial features,
DE   seizures, hypotonia, motor abnormalities, and hearing loss.
DR   MIM; 619475; phenotype.
DR   MedGen; CN300333.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures.
AC   DI-06472
AR   DEDISB.
DE   An autosomal dominant disorder characterized by mild to moderately
DE   impaired intellectual development, language delay, motor deficits, and
DE   behavioral abnormalities including aggression, hyperactivity, and
DE   autism spectrum disorder. About half of individuals develop various
DE   types of seizures. More variable features include dysmorphic facial
DE   features, mild ocular anomalies, and non-specific findings on brain
DE   imaging.
DR   MIM; 619964; phenotype.
DR   MedGen; CN315959.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Developmental delay, language impairment, and ocular abnormalities.
AC   DI-06554
AR   DEVLO.
DE   An autosomal dominant disorder characterized by mild motor delay,
DE   mildly impaired intellectual development, and significant speech
DE   impairment. Most affected individuals have microcephaly and may have
DE   mild dysmorphic features. Variable ocular anomalies include
DE   strabismus, cataracts, and cortical visual impairment.
DR   MIM; 620141; phenotype.
DR   MedGen; CN322497.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Diabetes insipidus, nephrogenic, 1, X-linked.
AC   DI-00391
AR   NDI1.
DE   A disorder caused by the inability of the renal collecting ducts to
DE   absorb water in response to arginine vasopressin. Characterized by
DE   excessive water drinking (polydipsia), excessive urine excretion
DE   (polyuria), persistent hypotonic urine, and hypokalemia.
SY   Diabetes insipidus nephrogenic type 1.
SY   NDI.
DR   MIM; 304800; phenotype.
DR   MedGen; C1563705.
DR   MeSH; D018500.
KW   KW-0218:Diabetes insipidus.
//
ID   Diabetes insipidus, nephrogenic, 2, autosomal.
AC   DI-00390
AR   NDI2.
DE   A disorder caused by the inability of the renal collecting ducts to
DE   absorb water in response to arginine vasopressin. Characterized by
DE   excessive water drinking (polydipsia), excessive urine excretion
DE   (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance
DE   can be autosomal dominant or recessive.
SY   Diabetes insipidus nephrogenic type 2.
DR   MIM; 125800; phenotype.
DR   MedGen; C1563706.
DR   MeSH; D018500.
KW   KW-0218:Diabetes insipidus.
//
ID   Diabetes insipidus, neurohypophyseal.
AC   DI-01217
AR   NDI.
DE   A disease characterized by persistent thirst, polydipsia and polyuria.
DE   Affected individuals are apparently normal at birth, but
DE   characteristically develop symptoms of vasopressin deficiency during
DE   childhood.
SY   CDI.
SY   Diabetes insipidus cranial type.
SY   Neurogenic diabetes insipidus.
SY   Primary central diabetes insipidus.
DR   MIM; 125700; phenotype.
DR   MedGen; C0687720.
DR   MeSH; D020790.
KW   KW-0218:Diabetes insipidus.
//
ID   Diabetes mellitus, ketosis-prone.
AC   DI-02784
AR   KPD.
DE   An atypical form of diabetes mellitus characterized by an acute
DE   initial presentation with severe hyperglycemia and ketosis, as seen in
DE   classic type 1 diabetes, but after initiation of insulin therapy,
DE   prolonged remission is often possible with cessation of insulin
DE   therapy and maintenance of appropriate metabolic control. Metabolic
DE   studies show a markedly blunted insulin secretory response to glucose,
DE   partially reversible with the improvement of blood glucose control.
DE   Variable levels of insulin resistance are observed, especially in
DE   obese patients. Pancreatic beta-cell autoimmunity is a rare finding.
DR   MIM; 612227; phenotype.
DR   MedGen; C0743110.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, neonatal, with congenital hypothyroidism.
AC   DI-02031
AR   NDH.
DE   A syndrome of neonatal diabetes syndrome associated with congenital
DE   hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic
DE   kidneys.
SY   NDH syndrome.
DR   MIM; 610199; phenotype.
DR   MedGen; C1857775.
DR   MeSH; D003409.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Diabetes mellitus, permanent neonatal, 1.
AC   DI-02152
AR   PNDM1.
DE   An autosomal recessive form of permanent neonatal diabetes mellitus, a
DE   type of diabetes characterized by onset of persistent hyperglycemia
DE   within the first six months of life. Initial clinical manifestations
DE   include intrauterine growth retardation, hyperglycemia, glycosuria,
DE   osmotic polyuria, severe dehydration, and failure to thrive.
SY   DEND.
SY   Developmental delay epilepsy and neonatal diabetes.
SY   Diabetes mellitus permanent neonatal with neurologic features.
SY   PDMI.
SY   Permanent diabetes mellitus of infancy.
DR   MIM; 606176; phenotype.
DR   MedGen; C1833102.
DR   MedGen; C1833104.
DR   MedGen; C1853564.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, permanent neonatal, 2.
AC   DI-05823
AR   PNDM2.
DE   A form of permanent neonatal diabetes mellitus, a type of diabetes
DE   characterized by onset of persistent hyperglycemia within the first
DE   six months of life. Initial clinical manifestations include
DE   intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE   polyuria, severe dehydration, and failure to thrive. Some PNDM2
DE   patients may also have developmental delay, muscle weakness, epilepsy
DE   and dysmorphic features. PNDM2 transmission pattern is consistent with
DE   autosomal dominant inheritance.
SY   DEND1.
SY   Developmental delay, epilepsy, and neonatal diabetes 1.
SY   Diabetes, permanent neonatal 2, with or without neurologic features.
DR   MIM; 618856; phenotype.
DR   MedGen; CN280868.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, permanent neonatal, 3.
AC   DI-05824
AR   PNDM3.
DE   A form of permanent neonatal diabetes mellitus, a type of diabetes
DE   characterized by onset of persistent hyperglycemia within the first
DE   six months of life. Initial clinical manifestations include
DE   intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE   polyuria, severe dehydration, and failure to thrive. Some PNDM3
DE   patients may also have developmental delay, muscle weakness, and
DE   epilepsy. PNDM3 transmission pattern is consistent with autosomal
DE   dominant or autosomal recessive inheritance.
SY   DEND2.
SY   Developmental delay, epilepsy, and neonatal diabetes 2.
SY   Diabetes, permanent neonatal 3, with or without neurologic features.
DR   MIM; 618857; phenotype.
DR   MedGen; CN280869.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, permanent neonatal, 4.
AC   DI-05825
AR   PNDM4.
DE   A form of permanent neonatal diabetes mellitus, a type of diabetes
DE   characterized by onset of persistent hyperglycemia within the first
DE   six months of life. Initial clinical manifestations include
DE   intrauterine growth retardation, hyperglycemia, glycosuria, osmotic
DE   polyuria, severe dehydration, and failure to thrive. PNDM4
DE   transmission pattern is consistent with autosomal dominant or
DE   autosomal recessive inheritance.
DR   MIM; 618858; phenotype.
DR   MedGen; CN280870.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, transient neonatal, 1.
AC   DI-02380
AR   TNDM1.
DE   An autosomal dominant form of diabetes mellitus defined by the onset
DE   of mild-to-severe hyperglycemia within the first month of life. In
DE   about half of the neonates, diabetes is transient and resolves at a
DE   median age of 3 months, whereas the rest have a permanent form of
DE   diabetes.
SY   6q24-related diabetes mellitus.
DR   MIM; 601410; phenotype.
DR   MedGen; C1832386.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Diamond-Blackfan anemia 1.
AC   DI-00392
AR   DBA1.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of developing
DE   leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE   short stature and congenital anomalies, the most frequent being
DE   craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE   urogenital anomalies.
SY   Aase-Smith syndrome II.
SY   Aase syndrome.
SY   BDS.
SY   Blackfan-Diamond syndrome.
SY   Chronic congenital aregenerative anemia.
SY   Congenital erythroid hypoplastic anemia.
SY   Congenital hypoplastic anemia of Blackfan and Diamond.
SY   DBA.
SY   Erythrogenesis imperfecta.
SY   Pure hereditary red cell aplasia.
DR   MIM; 105650; phenotype.
DR   MedGen; C1260899.
DR   MedGen; C2676137.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 10.
AC   DI-02685
AR   DBA10.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 613309; phenotype.
DR   MedGen; C2750080.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 11.
AC   DI-03608
AR   DBA11.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 614900; phenotype.
DR   MedGen; C3554042.
DR   MedGen; CN160292.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 12.
AC   DI-03972
AR   DBA12.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 615550; phenotype.
DR   MedGen; C3809888.
DR   MedGen; CN182206.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 13.
AC   DI-04161
AR   DBA13.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 615909; phenotype.
DR   MedGen; CN197014.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 14, with mandibulofacial dysostosis.
AC   DI-04366
AR   DBA14.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 300946; phenotype.
DR   MedGen; CN228774.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 15, with mandibulofacial dysostosis.
AC   DI-04370
AR   DBA15.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
SY   Diamond-Blackfan anemia with microtia and cleft palate.
DR   MIM; 606164; phenotype.
DR   MedGen; C1853576.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 16.
AC   DI-04958
AR   DBA16.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 617408; phenotype.
DR   MedGen; CN241838.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 17.
AC   DI-04959
AR   DBA17.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 617409; phenotype.
DR   MedGen; CN241839.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 18.
AC   DI-05472
AR   DBA18.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE   DBA18 inheritance is autosomal dominant.
DR   MIM; 618310; phenotype.
DR   MedGen; CN258194.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 19.
AC   DI-05473
AR   DBA19.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE   DBA19 inheritance is autosomal dominant.
DR   MIM; 618312; phenotype.
DR   MedGen; CN258195.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 20.
AC   DI-05474
AR   DBA20.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DE   DBA20 inheritance is autosomal dominant.
DR   MIM; 618313; phenotype.
DR   MedGen; CN258196.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 21.
AC   DI-06526
AR   DBA21.
DE   An autosomal recessive form of Diamond-Blackfan anemia, a congenital
DE   non-regenerative hypoplastic anemia that usually presents early in
DE   infancy. Diamond-Blackfan anemia is characterized by a moderate to
DE   severe macrocytic anemia, erythroblastopenia, and an increased risk of
DE   malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with
DE   short stature and congenital anomalies, the most frequent being
DE   craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE   urogenital anomalies. DBA21 patients manifest bone marrow failure,
DE   short stature, facial and acromelic dysmorphic features, and
DE   intellectual disability.
DR   MIM; 620072; phenotype.
DR   MedGen; CN322290.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 3.
AC   DI-00393
AR   DBA3.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of developing
DE   leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE   short stature and congenital anomalies, the most frequent being
DE   craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE   urogenital anomalies.
DR   MIM; 610629; phenotype.
DR   MedGen; C1857719.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 4.
AC   DI-00394
AR   DBA4.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of developing
DE   leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with
DE   short stature and congenital anomalies, the most frequent being
DE   craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
DE   urogenital anomalies.
DR   MIM; 612527; phenotype.
DR   MedGen; C2675860.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 5.
AC   DI-00395
AR   DBA5.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 612528; phenotype.
DR   MedGen; C2675859.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 6.
AC   DI-00396
AR   DBA6.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
SY   Aase-Smith syndrome II.
SY   Aase syndrome.
DR   MIM; 612561; phenotype.
DR   MedGen; C0265265.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 7.
AC   DI-00397
AR   DBA7.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 612562; phenotype.
DR   MedGen; C2675512.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 8.
AC   DI-00398
AR   DBA8.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 612563; phenotype.
DR   MedGen; C2675511.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia 9.
AC   DI-02684
AR   DBA9.
DE   A form of Diamond-Blackfan anemia, a congenital non-regenerative
DE   hypoplastic anemia that usually presents early in infancy. Diamond-
DE   Blackfan anemia is characterized by a moderate to severe macrocytic
DE   anemia, erythroblastopenia, and an increased risk of malignancy. 30 to
DE   40% of Diamond-Blackfan anemia patients present with short stature and
DE   congenital anomalies, the most frequent being craniofacial (Pierre-
DE   Robin syndrome and cleft palate), thumb and urogenital anomalies.
DR   MIM; 613308; phenotype.
DR   MedGen; C2750081.
DR   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
ID   Diamond-Blackfan anemia-like.
AC   DI-05222
AR   DBAL.
DE   An autosomal recessive hematologic disease characterized by severe red
DE   cell hypoplastic anemia, selective absence of red cell precursors and
DE   progenitors seen on bone marrow biopsy, and increased serum
DE   erythropoietin.
DR   MIM; 617911; phenotype.
DR   MedGen; CN873436.
DR   MeSH; D029503.
//
ID   Diaphanospondylodysostosis.
AC   DI-03157
AR   DSD.
DE   A rare, recessively inherited, perinatal lethal skeletal disorder. The
DE   primary skeletal characteristics of the phenotype include a small
DE   chest, abnormal vertebral segmentation, and posterior rib gaps
DE   containing incompletely differentiated mesenchymal tissue. Consistent
DE   craniofacial features include ocular hypertelorism, epicanthal folds,
DE   a depressed nasal bridge with a short nose, and low-set ears. The most
DE   commonly described extraskeletal finding is nephroblastomatosis with
DE   cystic kidneys, but other visceral findings have been described in
DE   some cases.
SY   Defect in vertebral ossification with nephrogenic rests.
DR   MIM; 608022; phenotype.
DR   MedGen; C1842691.
DR   MeSH; D004413.
//
ID   Diaphragmatic hernia 3.
AC   DI-01485
AR   DIH3.
DE   A form of congenital diaphragmatic hernia, a posterolateral defect of
DE   the diaphragm, generally located on the left side, that permits the
DE   herniation of abdominal viscera into the thorax. The lungs are
DE   hypoplastic and have abnormal vessels that cause respiratory
DE   insufficiency and persistent pulmonary hypertension with high
DE   mortality. About one third of cases have cardiovascular malformations
DE   and lesser proportions have skeletal, neural, genitourinary,
DE   gastrointestinal or other defects.
DR   MIM; 610187; phenotype.
DR   MedGen; C1857781.
DR   MeSH; D065630.
//
ID   Diaphragmatic hernia 4, with cardiovascular defects.
AC   DI-06500
AR   DIH4.
DE   An autosomal recessive form of congenital diaphragmatic hernia, a
DE   posterolateral defect of the diaphragm, generally located on the left
DE   side, that permits the herniation of abdominal viscera into the
DE   thorax. The lungs are hypoplastic and have abnormal vessels that cause
DE   respiratory insufficiency and persistent pulmonary hypertension with
DE   high mortality. About one third of cases have cardiovascular
DE   malformations and lesser proportions have skeletal, neural,
DE   genitourinary, gastrointestinal or other defects.
DR   MIM; 620025; phenotype.
DR   MedGen; CN316037.
DR   MeSH; D065630.
//
ID   Diaphyseal medullary stenosis with malignant fibrous histiocytoma.
AC   DI-03464
AR   DMSMFH.
DE   An autosomal dominant bone dysplasia characterized by pathologic
DE   fractures due to abnormal cortical growth and diaphyseal medullary
DE   stenosis. The fractures heal poorly, and there is progressive bowing
DE   of the lower extremities. Some patients show a limb-girdle myopathy,
DE   with muscle weakness and atrophy. Approximately 35% of affected
DE   individuals develop an aggressive form of bone sarcoma consistent with
DE   malignant fibrous histiocytoma or osteosarcoma.
SY   BDMF.
SY   Bone dysplasia with malignant fibrous histiocytoma.
SY   Bone dysplasia with medullary fibrosarcoma.
SY   DMS-MFH.
SY   Limb-girdle myopathy with bone fragility.
DR   MIM; 112250; phenotype.
DR   MedGen; C1862177.
DR   MeSH; D001848.
DR   MeSH; D051677.
//
ID   Diarrhea 1, secretory chloride, congenital.
AC   DI-01395
AR   DIAR1.
DE   A disease characterized by voluminous watery stools containing an
DE   excess of chloride. The children with this disease are often
DE   premature.
SY   Chloridorrhea congenital.
SY   CLD.
SY   Congenital chloride diarrhea Finnish type.
SY   Diarrhea 1 secretory chloride congenital.
DR   MIM; 214700; phenotype.
DR   MedGen; C0267662.
DR   MeSH; D003968.
//
ID   Diarrhea 10, protein-losing enteropathy type.
AC   DI-05384
AR   DIAR10.
DE   An autosomal recessive, congenital diarrheal disorder characterized by
DE   intractable secretory diarrhea with massive protein loss due to leaky
DE   fenestrated capillaries, severe hypoalbuminemia,
DE   hypogammaglobulinemia, hypertriglyceridemia, and electrolyte
DE   abnormalities. Disease severity is variable and death in infancy may
DE   occur in severe cases. Some patients show facial dysmorphic features,
DE   and cardiac and renal abnormalities.
DR   MIM; 618183; phenotype.
DR   MedGen; CN257782.
DR   MeSH; D003968.
//
ID   Diarrhea 11, malabsorptive, congenital.
AC   DI-05692
AR   DIAR11.
DE   A disease characterized by severe, life-threatening watery diarrhea
DE   associated with generalized malabsorption and a paucity of
DE   enteroendocrine cells. DIAR11 is characterized by onset of intractable
DE   diarrhea within the first few weeks of life.
SY   IDIS.
SY   Intractable diarrhea of infancy syndrome.
DR   MIM; 618662; phenotype.
DR   MedGen; CN262701.
DR   MeSH; D003968.
//
ID   Diarrhea 12, with microvillus atrophy.
AC   DI-06171
AR   DIAR12.
DE   An autosomal recessive congenital enteropathy characterized by
DE   intractable secretory diarrhea, resulting in severe dehydration and
DE   metabolic acidosis. DIAR12 can be diagnosed based on variable loss of
DE   brush-border microvilli, microvillus inclusions, and accumulation of
DE   subapical vesicles in villus enterocytes.
SY   Microvillus inclusion disease 2.
SY   MVID2.
DR   MIM; 619445; phenotype.
DR   MedGen; CN300062.
DR   MeSH; D003968.
DR   MeSH; D008286.
//
ID   Diarrhea 13.
AC   DI-06658
AR   DIAR13.
DE   An autosomal recessive disorder characterized by neonatal onset of
DE   recurrent vomiting and diarrhea, leading to severe failure to thrive.
DR   MIM; 620357; phenotype.
DR   MedGen; CN327033.
DR   MeSH; D003968.
//
ID   Diarrhea 2, with microvillus atrophy, with or without cholestasis.
AC   DI-01979
AR   DIAR2.
DE   A disease characterized by onset of intractable life-threatening
DE   watery diarrhea during infancy. Two forms are recognized: early-onset
DE   microvillus inclusion disease with diarrhea beginning in the neonatal
DE   period, and late-onset, with first symptoms appearing after 3 or 4
DE   months of life.
SY   Congenital familial protracted diarrhea with enterocyte brush-border abnormalities.
SY   Davidson disease.
SY   Intractable diarrhea of infancy.
SY   Microvillus atrophy congenital.
SY   Microvillus inclusion disease 1.
SY   MVID1.
DR   MIM; 251850; phenotype.
DR   MedGen; C0341306.
DR   MeSH; D003968.
//
ID   Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.
AC   DI-01417
AR   DIAR3.
DE   A disease characterized by life-threatening secretory diarrhea, severe
DE   metabolic acidosis and hyponatremia. Hyponatremia is secondary to
DE   extraordinarily high fecal sodium loss, with low or normal excretion
DE   of urinary sodium, in the absence of infectious, autoimmune and
DE   endocrine causes.
SY   Congenital sodium diarrhea.
SY   CSD.
SY   Diarrhea 3, secretory sodium, congenital, syndromic.
DR   MIM; 270420; phenotype.
DR   MedGen; C0267663.
DR   MedGen; C2678346.
DR   MeSH; D003968.
//
ID   Diarrhea 4, malabsorptive, congenital.
AC   DI-01408
AR   DIAR4.
DE   A disease characterized by severe, life-threatening watery diarrhea
DE   associated with generalized malabsorption and a paucity of
DE   enteroendocrine cells.
SY   Enteric anendocrinosis.
DR   MIM; 610370; phenotype.
DR   MedGen; C1835888.
DR   MeSH; D003968.
//
ID   Diarrhea 5, with tufting enteropathy, congenital.
AC   DI-02845
AR   DIAR5.
DE   An intractable diarrhea of infancy characterized by villous atrophy
DE   and absence of inflammation, with intestinal epithelial cell dysplasia
DE   manifesting as focal epithelial tufts in the duodenum and jejunum.
SY   Congenital tufting enteropathy.
SY   CTE.
SY   Intestinal epithelial cell dysplasia.
DR   MIM; 613217; phenotype.
DR   MedGen; C2750737.
DR   MeSH; D003968.
//
ID   Diarrhea 6.
AC   DI-03451
AR   DIAR6.
DE   A relatively mild, early-onset chronic diarrhea that may be associated
DE   with increased susceptibility to inflammatory bowel disease, small
DE   bowel obstruction, and esophagitis.
DR   MIM; 614616; phenotype.
DR   MedGen; C3553270.
DR   MedGen; CN123925.
DR   MeSH; D003967.
//
ID   Diarrhea 7, protein-losing enteropathy type.
AC   DI-04130
AR   DIAR7.
DE   A life-threatening disease characterized by severe, intractable,
DE   watery diarrhea.
DR   MIM; 615863; phenotype.
DR   MedGen; C4014516.
DR   MeSH; D003968.
//
ID   Diarrhea 8, secretory sodium, congenital.
AC   DI-04683
AR   DIAR8.
DE   A disease characterized by watery secretory diarrhea with prenatal
DE   onset, prominent abdominal distension after birth due to dilated
DE   fluid-filled loops of intestine, elevated fecal sodium concentrations
DE   and low urinary sodium concentrations.
DR   MIM; 616868; phenotype.
DR   MedGen; CN235609.
DR   MeSH; D003968.
//
ID   Diarrhea 9.
AC   DI-05373
AR   DIAR9.
DE   An autosomal recessive form of chronic diarrhea characterized by
DE   neonatal-onset of osmotic diarrhea that is not substrate specific,
DE   abnormal crypt and villus architecture, and significant fat
DE   malabsorption evidenced by high levels of fecal fat.
DR   MIM; 618168; phenotype.
DR   MedGen; CN257757.
DR   MeSH; D003968.
//
ID   Diastrophic dysplasia.
AC   DI-00399
AR   DTD.
DE   An autosomal recessive disease characterized by osteochondrodysplasia
DE   with clinical features including dwarfism, spinal deformation, and
DE   specific joint abnormalities.
SY   DD.
SY   Diastrophic dwarfism.
DR   MIM; 222600; phenotype.
DR   MedGen; C0220726.
DR   MedGen; C1857255.
DR   MeSH; D004392.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Dicarboxylic aminoaciduria.
AC   DI-04231
AR   DCBXA.
DE   An autosomal recessive disorder characterized by abnormal excretion of
DE   urinary glutamate and aspartate, resulting from the incomplete
DE   reabsorption of anionic amino acids from the glomerular filtrate in
DE   the kidney. It can be associated with intellectual disability.
SY   Glutamate-aspartate transport defect.
DR   MIM; 222730; phenotype.
DR   MedGen; C1857253.
DR   MeSH; D000608.
DR   MeSH; D008607.
//
ID   Diencephalic-mesencephalic junction dysplasia syndrome 1.
AC   DI-05123
AR   DMJDS1.
DE   An autosomal recessive syndrome characterized by severe global
DE   developmental delay with profound intellectual disability, spasticity
DE   or dystonia, and congenital microcephaly. Brain imaging shows
DE   hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia,
DE   and intracerebral calcifications.
SY   Microcephaly, seizures, spasticity, and brain calcifications.
SY   Microcephaly with spastic quadriplegia.
SY   MISSBC.
DR   MIM; 251280; phenotype.
DR   MedGen; C1855055.
DR   MeSH; D008831.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Diencephalic-mesencephalic junction dysplasia syndrome 2.
AC   DI-05683
AR   DMJDS2.
DE   An autosomal recessive neurodevelopmental disorder with onset at
DE   birth, characterized by severe global developmental delay, hypotonia,
DE   spastic tetraparesis, generalized dystonia and severe intellectual
DE   impairment. Brain imaging shows a unique brain malformation
DE   characterized by agenesis of putamina and globi pallidi, dysgenesis of
DE   the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the
DE   diencephalic-mesencephalic junction with abnormal corticospinal tract
DE   course.
SY   Spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia.
DR   MIM; 618646; phenotype.
DR   MedGen; CN262579.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Diets-Jongmans syndrome.
AC   DI-05814
AR   DIJOS.
DE   An autosomal dominant disorder characterized by varying degrees of
DE   intellectual disability, developmental delay, short stature, and
DE   characteristic facial features such as a wide mouth, a pointed chin,
DE   long ears and a low columella.
SY   IDDFD.
SY   Intellectual developmental disorder with distinctive facial dysmorphism.
DR   MIM; 618846; phenotype.
DR   MedGen; CN272931.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Diffuse gastric and lobular breast cancer syndrome.
AC   DI-01645
AR   DGLBC.
DE   A cancer predisposition syndrome with increased susceptibility to
DE   diffuse gastric cancer. Diffuse gastric cancer is a malignant disease
DE   characterized by poorly differentiated infiltrating lesions resulting
DE   in thickening of the stomach. Malignant tumors start in the stomach,
DE   can spread to the esophagus or the small intestine, and can extend
DE   through the stomach wall to nearby lymph nodes and organs. It also can
DE   metastasize to other parts of the body. In addition to gastric cancer,
DE   most female mutation carriers develop lobular carcinoma of the breast.
SY   Gastric cancer familial diffuse.
SY   Gastric cancer familial diffuse and cleft lip with or without cleft palate.
SY   HDGC.
SY   Hereditary diffuse gastric cancer.
DR   MIM; 137215; phenotype.
DR   MedGen; C3149287.
DR   MeSH; D013274.
//
ID   DiGeorge syndrome.
AC   DI-01487
AR   DGS.
DE   A congenital syndrome characterized by a wide spectrum of
DE   characteristics including parathyroid hypoplasia resulting in
DE   hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency,
DE   defects in the outflow tract of the heart, and craniofacial anomalies.
DE   Disturbance of cervical neural crest migration into the derivatives of
DE   the pharyngeal arches and pouches can account for the phenotype.
SY   Chromosome 22q11.2 deletion syndrome.
SY   Hypoplasia of thymus and parathyroids.
SY   Third and fourth pharyngeal pouch syndrome.
DR   MIM; 188400; phenotype.
DR   MedGen; C0012236.
DR   MedGen; C1861129.
DR   MeSH; D004062.
//
ID   Digital arthropathy-brachydactyly, familial.
AC   DI-03486
AR   FDAB.
DE   A disorder characterized by irregularities in the proximal articular
DE   surfaces of the distal interphalangeal joints of the hand. Individuals
DE   appear normal at birth, with no clinical or radiographic evidence of a
DE   developmental skeletal dysplasia. The earliest changes appear during
DE   the first decade of life. By adulthood, all interphalangeal,
DE   metacarpophalangeal, and metatarsophalangeal joints are affected by a
DE   deforming, painful osteoarthritis. The remainder of the skeleton is
DE   clinically and radiographically unaffected.
DR   MIM; 606835; phenotype.
DR   MedGen; C1847406.
DR   MeSH; D006226.
DR   MeSH; D059327.
//
ID   Digital clubbing, isolated congenital.
AC   DI-02474
AR   DIGC.
DE   A rare genodermatosis characterized by enlargement of the nail plate
DE   and terminal segments of the fingers and toes, resulting from
DE   proliferation of the connective tissues between the nail matrix and
DE   the distal phalanx. It is usually symmetrical and bilateral (in some
DE   cases unilateral). In nail clubbing usually the distal end of the nail
DE   matrix is relatively high compared to the proximal end, while the nail
DE   plate is complete but its dimensions and diameter more or less vary in
DE   comparison to normal. There may be different fingers and toes involved
DE   to varying degrees. Some fingers or toes are spared, but the thumbs
DE   are almost always involved.
SY   Clubbing of digits.
SY   Hereditary acropachy.
DR   MIM; 119900; phenotype.
DR   MedGen; C1861514.
DR   MeSH; D009260.
//
ID   Dihydrolipoamide dehydrogenase deficiency.
AC   DI-03698
AR   DLDD.
DE   An autosomal recessive metabolic disorder characterized biochemically
DE   by a combined deficiency of the branched-chain alpha-keto acid
DE   dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC),
DE   and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically,
DE   affected individuals have lactic acidosis and neurologic deterioration
DE   due to sensitivity of the central nervous system to defects in
DE   oxidative metabolism.
SY   DLD deficiency.
SY   E3 deficiency.
SY   Lactic acidosis due to lipoamide dehydrogenase deficiency.
SY   Maple syrup urine disease type III.
SY   MSUD type III.
DR   MIM; 246900; phenotype.
DR   MedGen; C3492932.
DR   MedGen; C3495355.
DR   MedGen; CN043137.
DR   MeSH; D000140.
DR   MeSH; D008375.
//
ID   Dihydropyrimidinase deficiency.
AC   DI-01483
AR   DPYSD.
DE   An autosomal recessive disorder of pyrimidine metabolism characterized
DE   by dihydropyrimidinuria. It is associated with a variable clinical
DE   phenotype characterized by epileptic or convulsive attacks, dysmorphic
DE   features and severe developmental delay, and congenital microvillous
DE   atrophy. Most patients are, however, asymptomatic.
SY   Dihydropyrimidinuria due to DPYS deficiency.
SY   DPH deficiency.
SY   DPYS deficiency.
DR   MIM; 222748; phenotype.
DR   MedGen; C0342803.
DR   MedGen; C3495551.
DR   MeSH; D011686.
//
ID   Dihydropyrimidine dehydrogenase deficiency.
AC   DI-01488
AR   DPYDD.
DE   A metabolic disorder with large phenotypic variability, ranging from
DE   no symptoms to a convulsive disorder with motor and intellectual
DE   disability. It is characterized by persistent urinary excretion of
DE   excessive amounts of uracil, thymine and 5-hydroxymethyluracil.
DE   Patients suffering from this disease show a severe reaction to the
DE   anticancer drug 5-fluorouracil.
SY   Dihydropyrimidinuria.
SY   DPD deficiency.
SY   DPYD deficiency.
SY   Familial pyrimidinemia.
SY   Hereditary thymine-uraciluria.
DR   MIM; 274270; phenotype.
DR   MedGen; C1959620.
DR   MedGen; C2720286.
DR   MeSH; D054067.
//
ID   Disabling pansclerotic morphea of childhood.
AC   DI-06718
AR   DPMC.
DE   An autosomal dominant, severe systemic inflammatory disorder that is
DE   part of the juvenile localized scleroderma spectrum. DPMC is
DE   characterized by poor wound healing with rapidly progressive deep
DE   fibrosis involving the mucous membranes, dermis, subcutaneous fat,
DE   fascia, muscles, and bone, leading to contractures, musculoskeletal
DE   atrophy, and articular ankylosis. Systemic manifestations include
DE   cytopenias and hypogammaglobulinemia, but scleroderma-associated
DE   autoantibodies are usually not present. The disorder is associated
DE   with high morbidity and mortality due to squamous-cell carcinoma,
DE   restrictive pulmonary disease, sepsis, and gangrene.
SY   Scleroderma, juvenile localized.
DR   MIM; 620443; phenotype.
DR   MedGen; CN372343.
DR   MeSH; D012594.
//
ID   Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency.
AC   DI-00601
AR   DISPORD.
DE   A disorder resulting in a rare variant of congenital adrenal
DE   hyperplasia, with apparent combined P450C17 and P450C21 deficiency and
DE   accumulation of steroid metabolites. Affected girls are born with
DE   ambiguous genitalia, but their circulating androgens are low and
DE   virilization does not progress. Conversely, affected boys are
DE   sometimes born undermasculinized. Boys and girls can present with bone
DE   malformations, in some cases resembling the pattern seen in patients
DE   with Antley-Bixler syndrome.
SY   Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency.
SY   Congenital adrenal hyperplasia due to apparent combined P450C17 and P450C21 deficiency.
SY   Cytochrome P450 oxidoreductase deficiency.
SY   Disordered steroidogenesis due to POR deficiency.
SY   POR deficiency.
DR   MIM; 613571; phenotype.
DR   MedGen; C2673964.
DR   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Distal myopathy with anterior tibial onset.
AC   DI-01494
AR   DMAT.
DE   Onset of the disorder is between 14 and 28 years of age and the
DE   anterior tibial muscles are the first muscle group to be involved.
DE   Inheritance is autosomal recessive.
DR   MIM; 606768; phenotype.
DR   MedGen; C1847532.
//
ID   DMGDH deficiency.
AC   DI-01497
AR   DMGDHD.
DE   Disorder characterized by fish odor, muscle fatigue with increased
DE   serum creatine kinase. Biochemically it is characterized by an
DE   increase of N,N-dimethylglycine (DMG) in serum and urine.
DR   MIM; 605850; phenotype.
DR   MedGen; C1853892.
//
ID   Dominant nonimmune chronic idiopathic neutropenia of adults.
AC   DI-01499
AR   NI-CINA.
DE   Relatively mild form of neutropenia diagnosed in adults, but
DE   predisposing to leukemia in a subset of patients.
DR   MIM; 607847; phenotype.
DR   MedGen; C1842930.
//
ID   Dominant optic atrophy plus syndrome.
AC   DI-02096
AR   DOA+.
DE   A neurologic disorder characterized most commonly by an insidious
DE   onset of visual loss and sensorineural hearing loss in childhood with
DE   variable presentation of other clinical manifestations including
DE   progressive external ophthalmoplegia, muscle cramps, hyperreflexia,
DE   and ataxia. There appears to be a wide range of intermediate
DE   phenotypes.
SY   Optic atrophy with or without deafness ophthalmoplegia myopathy ataxia and neuropathy.
DR   MIM; 125250; phenotype.
DR   MedGen; C1852267.
DR   MedGen; C3276549.
DR   MeSH; D002493.
DR   MeSH; D029241.
//
ID   Dominantly inherited venous malformations.
AC   DI-01500
AR   VMCM.
DE   An error of vascular morphogenesis characterized by dilated,
DE   serpiginous channels.
DR   MIM; 600195; phenotype.
DR   MedGen; C1838437.
//
ID   Donnai-Barrow syndrome.
AC   DI-01501
AR   DBS.
DE   An autosomal recessive syndrome characterized by complete or partial
DE   agenesis of the corpus callosum, congenital diaphragmatic hernia,
DE   facial dysmorphology, ocular anomalies, sensorineural hearing loss,
DE   developmental delay, and proteinuria. There is variability in the
DE   expression of some features, such as diaphragmatic hernia, corpus
DE   callosum anomalies and proteinuria.
SY   DBS/FOAR syndrome.
SY   Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.
SY   Faciooculoacousticorenal syndrome.
SY   Facio-oculo-acoustico-renal syndrome.
SY   FOAR syndrome.
DR   MIM; 222448; phenotype.
DR   MedGen; C1857277.
DR   MeSH; D006319.
DR   MeSH; D015499.
DR   MeSH; D061085.
DR   MeSH; D065630.
KW   KW-0209:Deafness.
//
ID   Dowling-Degos disease 1.
AC   DI-01503
AR   DDD1.
DE   An autosomal dominant genodermatosis. Affected individuals develop a
DE   postpubertal reticulate hyperpigmentation that is progressive and
DE   disfiguring, and small hyperkeratotic dark brown papules that affect
DE   mainly the flexures and great skin folds. Patients usually show no
DE   abnormalities of the hair or nails.
SY   DDD.
SY   Reticular pigment anomaly of flexures.
DR   MIM; 179850; phenotype.
DR   MedGen; C0406811.
DR   MeSH; D017444.
DR   MeSH; D017495.
//
ID   Dowling-Degos disease 2.
AC   DI-03821
AR   DDD2.
DE   An autosomal dominant genodermatosis. Affected individuals develop a
DE   postpubertal reticulate hyperpigmentation that is progressive and
DE   disfiguring, and small hyperkeratotic dark brown papules that affect
DE   mainly the flexures and great skin folds. Patients usually show no
DE   abnormalities of the hair or nails.
DR   MIM; 615327; phenotype.
DR   MedGen; C3809147.
DR   MedGen; CN178067.
DR   MeSH; D017444.
DR   MeSH; D017495.
//
ID   Dowling-Degos disease 4.
AC   DI-04044
AR   DDD4.
DE   A form of Dowling-Degos disease, a genodermatosis manifesting with
DE   postpubertal reticulate hyperpigmentation that is progressive and
DE   disfiguring, and small hyperkeratotic dark brown papules that affect
DE   mainly the flexures and great skin folds. Patients usually show no
DE   abnormalities of the hair or nails. DDD4 is characterized by prominent
DE   involvement of non-flexural skin areas.
DR   MIM; 615696; phenotype.
DR   MedGen; C3810313.
DR   MedGen; CN185282.
DR   MeSH; D017444.
DR   MeSH; D017495.
//
ID   Doyne honeycomb retinal dystrophy.
AC   DI-01504
AR   DHRD.
DE   Autosomal dominant disease characterized by yellow-white deposits
DE   known as drusen that accumulate beneath the retinal pigment
DE   epithelium.
SY   Malattia leventinese.
SY   ML.
SY   MLVT.
DR   MIM; 126600; phenotype.
DR   MedGen; C1832174.
DR   MedGen; C1852020.
DR   MedGen; C1852021.
//
ID   Dravet syndrome.
AC   DI-01023
AR   DRVT.
DE   A severe form of epileptic encephalopathy characterized by generalized
DE   tonic, clonic, and tonic-clonic seizures that are initially induced by
DE   fever and begin during the first year of life. Later, patients also
DE   manifest other seizure types, including absence, myoclonic, and simple
DE   and complex partial seizures. Psychomotor development delay is
DE   observed around the second year of life. Some patients manifest a
DE   borderline disease phenotype and do not necessarily fulfill all
DE   diagnostic criteria for core DRVT. DRVT is considered to be the most
DE   severe phenotype within the spectrum of generalized epilepsies with
DE   febrile seizures-plus.
SY   Borderline SMEI.
SY   DEE6A.
SY   Developmental and epileptic encephalopathy 6A.
SY   EIEE6.
SY   Epileptic encephalopathy, early infantile, 6.
SY   Severe myoclonic epilepsy in infancy.
SY   SMEB.
SY   SMEB-M.
SY   SMEB-O.
SY   SMEB-SW.
SY   SMEI.
SY   SMEI-borderland.
SY   SMEI-borderland more than one feature.
SY   SMEI-borderland-myoclonic seizures.
SY   SMEI-borderland-spike wave.
DR   MIM; 607208; phenotype.
DR   MedGen; C0751122.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Duane retraction syndrome 2.
AC   DI-01506
AR   DURS2.
DE   A form of Duane retraction syndrome, a congenital eye movement
DE   disorder characterized by a failure of cranial nerve VI (the abducens
DE   nerve) to develop normally, resulting in restriction or absence of
DE   abduction, adduction or both, narrowing of the palpebral fissure, and
DE   retraction of the globe on attempted adduction. Undiagnosed in
DE   children, it can lead to amblyopia, a permanent uncorrectable loss of
DE   vision.
DR   MIM; 604356; phenotype.
DR   MedGen; C0751083.
DR   MeSH; D004370.
//
ID   Duane retraction syndrome 3 with or without deafness.
AC   DI-04764
AR   DURS3.
DE   A form of Duane retraction syndrome, a congenital eye movement
DE   disorder characterized by a failure of cranial nerve VI (the abducens
DE   nerve) to develop normally, resulting in restriction or absence of
DE   abduction, adduction or both, narrowing of the palpebral fissure, and
DE   retraction of the globe on attempted adduction. Undiagnosed in
DE   children, it can lead to amblyopia, a permanent uncorrectable loss of
DE   vision. Some DURS3 patients manifest sensorineural hearing loss.
DR   MIM; 617041; phenotype.
DR   MedGen; CN237403.
DR   MeSH; D004370.
//
ID   Duane-radial ray syndrome.
AC   DI-01507
AR   DRRS.
DE   Disorder characterized by the association of forearm malformations
DE   with Duane retraction syndrome.
SY   Okihiro syndrome.
DR   MIM; 607323; phenotype.
DR   MedGen; C1623209.
//
ID   Dubin-Johnson syndrome.
AC   DI-01508
AR   DJS.
DE   Autosomal recessive disorder characterized by conjugated
DE   hyperbilirubinemia, an increase in the urinary excretion of
DE   coproporphyrin isomer I, deposition of melanin-like pigment in
DE   hepatocytes, and prolonged retention of sulfobromophthalein, but
DE   otherwise normal liver function.
DR   MIM; 237500; phenotype.
DR   MedGen; C0022350.
//
ID   Duchenne muscular dystrophy.
AC   DI-01509
AR   DMD.
DE   Most common form of muscular dystrophy; a sex-linked recessive
DE   disorder. It typically presents in boys aged 3 to 7 year as proximal
DE   muscle weakness causing waddling gait, toe-walking, lordosis, frequent
DE   falls, and difficulty in standing up and climbing up stairs. The
DE   pelvic girdle is affected first, then the shoulder girdle. Progression
DE   is steady and most patients are confined to a wheelchair by age of 10
DE   or 12. Flexion contractures and scoliosis ultimately occur. About 50%
DE   of patients have a lower IQ than their genetic expectations would
DE   suggest. There is no treatment.
DR   MIM; 310200; phenotype.
DR   MedGen; C0013264.
//
ID   Dursun syndrome.
AC   DI-02930
AR   DURSS.
DE   A disease characterized by pulmonary arterial hypertension, cardiac
DE   abnormalities including secundum-type atrial septal defect,
DE   intermittent neutropenia, lymphopenia, monocytosis and anemia.
SY   Pulmonary arterial hypertension leukopenia and atrial septal defect.
DR   MIM; 612541; phenotype.
DR   MedGen; C2751630.
DR   MeSH; D009503.
//
ID   Dworschak-Punetha neurodevelopmental syndrome.
AC   DI-06469
AR   DWOPNED.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, mildly impaired intellectual development, speech delay, and
DE   behavioral abnormalities including autism spectrum disorder and
DE   hyperactivity. Additional variable additional features include optic
DE   disk hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, non-
DE   specific facial dysmorphism, and abnormalities of the ventricles or
DE   corpus callosum seen on brain imaging.
DR   MIM; 619955; phenotype.
DR   MedGen; CN315809.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Dyggve-Melchior-Clausen syndrome.
AC   DI-00406
AR   DMC.
DE   A rare autosomal recessive disorder belonging to the group of
DE   spondyloepimetaphyseal dysplasias. DMC is characterized by progressive
DE   short stature with short trunk dwarfism, microcephaly, protruding
DE   sternum, and psychomotor retardation. Radiological features include a
DE   platyspondyly with double vertebral humps, an epiphyso-metaphyseal
DE   dysplasia and lacy pelvis iliac crests.
DR   MIM; 223800; phenotype.
DR   MedGen; C0265286.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Dyschromatosis symmetrica hereditaria.
AC   DI-01510
AR   DSH.
DE   An autosomal dominant pigmentary genodermatosis characterized by a
DE   mixture of hyperpigmented and hypopigmented macules distributed on the
DE   face and the dorsal parts of the hands and feet, that appear in
DE   infancy or early childhood.
SY   DSH1.
SY   Dyschromatosis symmetrica hereditaria 1.
SY   Reticulate acropigmentation of Dohi.
SY   Symmetric dyschromatosis of the extremities.
DR   MIM; 127400; phenotype.
DR   MedGen; C0406775.
DR   MeSH; D010859.
//
ID   Dyschromatosis universalis hereditaria 1.
AC   DI-05519
AR   DUH1.
DE   A form of dyschromatosis universalis, an autosomal dominant pigmentary
DE   genodermatosis characterized by a mixture of hyperpigmented and
DE   hypopigmented macules distributed randomly over the body, that appear
DE   in infancy or early childhood. The trunk and extremities are the
DE   dominant sites of abnormal pigmentation. Facial lesions can be seen in
DE   50% of affected individuals, but involvement of palms and soles is
DE   unusual. Abnormalities of hair and nails have also been reported.
DE   Dyschromatosis universalis hereditaria may be associated with
DE   abnormalities of dermal connective tissue, nerve tissue, or other
DE   systemic complications.
DR   MIM; 127500; phenotype.
DR   MedGen; C2675711.
DR   MeSH; D010859.
//
ID   Dyschromatosis universalis hereditaria 3.
AC   DI-03880
AR   DUH3.
DE   An autosomal dominant pigmentary genodermatosis characterized by a
DE   mixture of hyperpigmented and hypopigmented macules distributed
DE   randomly over the body, that appear in infancy or early childhood. The
DE   trunk and extremities are the dominant sites of abnormal pigmentation.
DE   Facial lesions can be seen in 50% of affected individuals, but
DE   involvement of palms and soles is unusual. Abnormalities of hair and
DE   nails have also been reported. Dyschromatosis universalis hereditaria
DE   may be associated with abnormalities of dermal connective tissue,
DE   nerve tissue, or other systemic complications.
SY   DSH.
SY   Dyschromatosis symmetrica hereditaria.
SY   Reticulate acropigmentation of Dohi.
SY   Symmetric dyschromatosis of the extremities.
DR   MIM; 615402; phenotype.
DR   MedGen; C3809394.
DR   MedGen; CN179951.
DR   MeSH; D010859.
//
ID   Dysfibrinogenemia, congenital.
AC   DI-04218
AR   DYSFIBRIN.
DE   A disorder characterized by qualitative abnormalities
DE   (dysfibrinogenemia) of the circulating fibrinogen. Affected
DE   individuals are frequently asymptomatic, but some patients have
DE   bleeding diathesis, thromboembolic complications, or both. In some
DE   cases, dysfibrinogenemia is associated with low circulating fibrinogen
DE   levels (hypodysfibrinogenemia).
SY   Hypodysfibrinogenemia, congenital.
DR   MIM; 616004; phenotype.
DR   MedGen; C0272350.
DR   MeSH; D025861.
//
ID   Dyskeratosis congenita, autosomal dominant, 2.
AC   DI-00407
AR   DKCA2.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
SY   Dyskeratosis congenita Scoggins type.
DR   MIM; 613989; phenotype.
DR   MedGen; C3151443.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal dominant, 3.
AC   DI-03165
AR   DKCA3.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
DR   MIM; 613990; phenotype.
DR   MedGen; C3151445.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal dominant, 4.
AC   DI-03889
AR   DKCA4.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
DR   MIM; 615190; phenotype.
DR   MedGen; C3808802.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal dominant, 5.
AC   DI-00998
AR   DKCA5.
DE   A disease characterized by bone marrow hypoplasia, nail dystrophy,
DE   fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia,
DE   bilateral exudative retinopathy, cerebellar hypoplasia, and growth
DE   retardation.
SY   Exudative retinopathy with bone marrow failure.
SY   Revesz Debuse syndrome.
SY   Revesz syndrome.
DR   MIM; 268130; phenotype.
DR   MedGen; C1327916.
DR   MeSH; D012164.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal dominant, 6.
AC   DI-04521
AR   DKCA6.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy.
DR   MIM; 616553; phenotype.
DR   MedGen; CN232698.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 1.
AC   DI-00408
AR   DKCB1.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
DR   MIM; 224230; phenotype.
DR   MedGen; C1857144.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 2.
AC   DI-03167
AR   DKCB2.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
DR   MIM; 613987; phenotype.
DR   MedGen; C3151441.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 3.
AC   DI-03168
AR   DKCB3.
DE   A rare multisystem disorder caused by defective telomere maintenance.
DE   It is characterized by progressive bone marrow failure, and the
DE   clinical triad of reticulated skin hyperpigmentation, nail dystrophy,
DE   and mucosal leukoplakia. Common but variable features include
DE   premature graying, aplastic anemia, low platelets, osteoporosis,
DE   pulmonary fibrosis, and liver fibrosis among others. Early mortality
DE   is often associated with bone marrow failure, infections, fatal
DE   pulmonary complications, or malignancy.
DR   MIM; 613988; phenotype.
DR   MedGen; C3151442.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 4.
AC   DI-03166
AR   DKCB4.
DE   A severe form of dyskeratosis congenita, a rare multisystem disorder
DE   caused by defective telomere maintenance. It is characterized by
DE   progressive bone marrow failure, and the clinical triad of reticulated
DE   skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia.
DE   Common but variable features include premature graying, aplastic
DE   anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver
DE   fibrosis among others. Early mortality is often associated with bone
DE   marrow failure, infections, fatal pulmonary complications, or
DE   malignancy.
SY   Dyskeratosis congenita Scoggins type.
DR   MIM; 613989; phenotype.
DR   MedGen; C3151444.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 5.
AC   DI-03755
AR   DKCB5.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy. DKCB5 is
DE   characterized by onset of bone marrow failure and immunodeficiency in
DE   early childhood. Most patients also have growth and developmental
DE   delay and cerebellar hypoplasia, consistent with a clinical diagnosis
DE   of Hoyeraal-Hreidarsson syndrome.
DR   MIM; 615190; phenotype.
DR   MedGen; C3554656.
DR   MedGen; CN169266.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 6.
AC   DI-04424
AR   DKCB6.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy.
DR   MIM; 616353; phenotype.
DR   MedGen; CN230311.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 7.
AC   DI-04522
AR   DKCB7.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy.
DR   MIM; 616553; phenotype.
DR   MedGen; CN232699.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, autosomal recessive, 8.
AC   DI-06549
AR   DKCB8.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy. Additional
DE   DKCB8 features include microcephaly, intrauterine growth retardation,
DE   and developmental anomalies in some patients. DKCB8 patients exhibit
DE   normal global telemore length, although there is evidence of telomere
DE   instability.
DR   MIM; 620133; phenotype.
DR   MedGen; CN322494.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, digenic.
AC   DI-06506
AR   DKCD.
DE   A form of dyskeratosis congenita, a rare multisystem disorder caused
DE   by defective telomere maintenance. It is characterized by progressive
DE   bone marrow failure, and the clinical triad of reticulated skin
DE   hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but
DE   variable features include premature graying, aplastic anemia, low
DE   platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
DE   others. Early mortality is often associated with bone marrow failure,
DE   infections, fatal pulmonary complications, or malignancy. DKCD
DE   transmission pattern is consistent with digenic inheritance.
DR   MIM; 620040; phenotype.
DR   MedGen; CN322046.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskeratosis congenita, X-linked.
AC   DI-00409
AR   DKCX.
DE   A rare, progressive bone marrow failure syndrome characterized by the
DE   triad of reticulated skin hyperpigmentation, nail dystrophy, and
DE   mucosal leukoplakia. Early mortality is often associated with bone
DE   marrow failure, infections, fatal pulmonary complications, or
DE   malignancy.
SY   Zinsser-Cole-Engman syndrome.
DR   MIM; 305000; phenotype.
DR   MedGen; C1148551.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   Dyskinesia with orofacial involvement, autosomal recessive.
AC   DI-06289
AR   DSKOR.
DE   An autosomal recessive disorder characterized by abnormal involuntary
DE   movements mainly affecting the limbs and causing walking difficulties,
DE   oro-facial dyskinesia, and speech delay. Some patients develop
DE   neuropsychiatric features. Cardiomyopathy has rarely been described
DE   and may be a manifestation of the disorder.
DR   MIM; 619647; phenotype.
DR   MedGen; CN305151.
DR   MeSH; D020820.
//
ID   Dyskinesia, familial, with facial myokymia.
AC   DI-03514
AR   FDFM.
DE   A disorder characterized by predominantly perioral and periorbital
DE   myokymia, and face, neck and upper limb dystonic/choreic movements.
DE   Initially paroxysmal and worsened by stress, the dyskinetic episodes
DE   become nearly constant by the end of the third decade of life, but in
DE   some individuals, they may diminish in frequency and severity at older
DE   ages.
DR   MIM; 606703; phenotype.
DR   MedGen; C1847627.
DR   MeSH; D020385.
DR   MeSH; D020820.
//
ID   Dyskinesia, limb and orofacial, infantile-onset.
AC   DI-04707
AR   IOLOD.
DE   An autosomal recessive, early-onset hyperkinetic movement disorder
DE   characterized by axial hypotonia, dyskinesia of the limbs and trunk,
DE   orofacial dyskinesia, drooling, and dysarthria. The severity of the
DE   hyperkinesis is variable.
DR   MIM; 616921; phenotype.
DR   MedGen; CN236398.
DR   MeSH; D020820.
//
ID   Dyslexia 1.
AC   DI-02608
AR   DYX1.
DE   A relatively common, complex cognitive disorder characterized by an
DE   impairment of reading performance despite adequate motivational,
DE   educational and intellectual opportunities. It is a multifactorial
DE   trait, with evidence for familial clustering and heritability.
SY   Congenital word-blindness.
SY   Dyslexia 4.
SY   Dyslexia 7.
SY   DYX4.
SY   DYX7.
SY   Specific reading disability type 1.
DR   MIM; 127700; phenotype.
DR   MedGen; C1851967.
DR   MedGen; C1851968.
DR   MedGen; C1851969.
//
ID   Dyslexia 2.
AC   DI-01511
AR   DYX2.
DE   A relatively common, complex cognitive disorder characterized by an
DE   impairment of reading performance despite adequate motivational,
DE   educational and intellectual opportunities. It is a multifactorial
DE   trait, with evidence for familial clustering and heritability.
SY   Specific reading disability type 2.
DR   MIM; 600202; phenotype.
DR   MedGen; C1838436.
//
ID   Dysostosis multiplex, Ain-Naz type.
AC   DI-06118
AR   DMAN.
DE   An autosomal recessive, severe skeletal disease characterized by
DE   features of dysostosis multiplex, severe short stature, coarse facies
DE   with broad nose and prominent lips, protruding abdomens, and
DE   progressive skeletal changes causing gradual mobility loss. Death in
DE   childhood or early adulthood may occur.
DR   MIM; 619345; phenotype.
DR   MedGen; CN296810.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Dyssegmental dysplasia Silverman-Handmaker type.
AC   DI-01512
AR   DDSH.
DE   The dyssegmental dysplasias are rare, autosomal recessive skeletal
DE   dysplasias with anisospondyly and micromelia. There are two recognized
DE   types: the severe, lethal DDSH and the milder Rolland-Desbuquois form.
DE   Individuals with DDSH also have a flat face, micrognathia, cleft
DE   palate and reduced joint mobility, and frequently have an
DE   encephalocoele. The endochondral growth plate is short, the
DE   calcospherites (which are spherical calcium-phosphorus crystals
DE   produced by hypertrophic chondrocytes) are unfused, and there is
DE   mucoid degeneration of the resting cartilage.
DR   MIM; 224410; phenotype.
DR   MedGen; C0432208.
DR   MedGen; C1857100.
//
ID   Dystonia 1, torsion, autosomal dominant.
AC   DI-00413
AR   DYT1.
DE   A primary torsion dystonia, and the most common and severe form.
DE   Dystonia is defined by the presence of sustained involuntary muscle
DE   contractions, often leading to abnormal postures. Dystonia type 1 is
DE   characterized by involuntary, repetitive, sustained muscle
DE   contractions or postures involving one or more sites of the body, in
DE   the absence of other neurological symptoms. Typically, symptoms
DE   develop first in an arm or leg in middle to late childhood and
DE   progress in approximately 30% of patients to other body regions
DE   (generalized dystonia) within about five years. 'Torsion' refers to
DE   the twisting nature of body movements observed in DYT1, often
DE   affecting the trunk. Distribution and severity of symptoms vary widely
DE   between affected individuals, ranging from mild focal dystonia to
DE   severe generalized dystonia, even within families.
SY   Autosomal dominant torsion dystonia 1.
SY   Dystonia-1.
SY   Dystonia musculorum deformans 1.
SY   Early-onset torsion dystonia.
SY   EOTD.
SY   Oppenheim's dystonia.
SY   Oppenheim-Ziehen disease.
DR   MIM; 128100; phenotype.
DR   MedGen; C1851945.
DR   MeSH; D004422.
KW   KW-1023:Dystonia.
//
ID   Dystonia 11, myoclonic.
AC   DI-00418
AR   DYT11.
DE   A myoclonic dystonia. Dystonia is defined by the presence of sustained
DE   involuntary muscle contractions, often leading to abnormal postures.
DE   DYT11 is characterized by involuntary lightning jerks and dystonic
DE   movements and postures alleviated by alcohol. Inheritance is autosomal
DE   dominant. The age of onset, pattern of body involvement, presence of
DE   myoclonus and response to alcohol are all variable.
SY   Alcohol-responsive dystonia.
SY   Dystonia-11.
SY   Myoclonic dystonia.
SY   Myoclonus-dystonia syndrome.
DR   MIM; 159900; phenotype.
DR   MedGen; C1834570.
DR   MeSH; D004421.
DR   MeSH; D009207.
KW   KW-1023:Dystonia.
//
ID   Dystonia 12.
AC   DI-00419
AR   DYT12.
DE   An autosomal dominant dystonia-parkinsonism disorder. Dystonia is
DE   defined by the presence of sustained involuntary muscle contractions,
DE   often leading to abnormal postures. DYT12 patients develop dystonia
DE   and parkinsonism between 15 and 45 years of age. The disease is
DE   characterized by an unusually rapid evolution of signs and symptoms.
DE   The sudden onset of symptoms over hours to a few weeks, often
DE   associated with physical or emotional stress, suggests a trigger
DE   initiating a nervous system insult resulting in permanent neurologic
DE   disability.
SY   Dystonia-12.
SY   Rapid-onset dystonia-parkinsonism.
SY   RDP.
DR   MIM; 128235; phenotype.
DR   MedGen; C1868681.
DR   MeSH; D004421.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Dystonia 16.
AC   DI-00420
AR   DYT16.
DE   An early-onset dystonia-parkinsonism disorder. Dystonia is defined by
DE   the presence of sustained involuntary muscle contraction, often
DE   leading to abnormal postures. DYT16 patients have progressive,
DE   generalized dystonia with axial muscle involvement, oro-mandibular
DE   (sardonic smile) and laryngeal dystonia and, in some cases,
DE   parkinsonian features.
SY   Dystonia-16.
DR   MIM; 612067; phenotype.
DR   MedGen; C2677567.
DR   MeSH; D004421.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Dystonia 2, torsion, autosomal recessive.
AC   DI-04436
AR   DYT2.
DE   A form of torsion dystonia, a disease defined by the presence of
DE   sustained involuntary muscle contractions, often leading to abnormal
DE   postures. 'Torsion' refers to the twisting nature of body movements,
DE   often affecting the trunk. DYT2 is a slowly progressive form that
DE   first affects distal limbs and later involves the neck, orofacial, and
DE   craniocervical regions.
SY   Dystonia musculorum deformans 2.
SY   Torsion dystonia 2.
DR   MIM; 224500; phenotype.
DR   MedGen; C1857093.
DR   MeSH; D004422.
KW   KW-1023:Dystonia.
//
ID   Dystonia 22, adult-onset.
AC   DI-06727
AR   DYT22AO.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT22AO is an autosomal recessive form characterized by focal dystonia
DE   or tremor and mild cognitive impairment.
DR   MIM; 620456; phenotype.
DR   MedGen; CN372449.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 22, juvenile-onset.
AC   DI-06726
AR   DYT22JO.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT22JO is an autosomal recessive form characterized by progressive,
DE   generalized dystonia associated with intellectual disability,
DE   cognitive decline, and cerebellar atrophy.
DR   MIM; 620453; phenotype.
DR   MedGen; CN372450.
DR   MeSH; D004421.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Dystonia 23.
AC   DI-04376
AR   DYT23.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT23 is an autosomal dominant dystonia affecting the face, neck,
DE   limbs. Some DYT23 patients manifest generalized myoclonus in addition
DE   to progressive action-induced multifocal dystonia.
DR   MIM; 614860; phenotype.
DR   MedGen; C3538999.
DR   MedGen; CN159223.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 24.
AC   DI-03682
AR   DYT24.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT24 is an autosomal dominant focal dystonia affecting the neck,
DE   laryngeal muscles, and muscles of the upper limbs.
SY   Dystonia-24.
DR   MIM; 615034; phenotype.
DR   MedGen; C3554374.
DR   MedGen; CN164729.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 25.
AC   DI-03651
AR   DYT25.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT25 is an autosomal dominant neurologic disorder characterized by
DE   adult onset of focal dystonia, usually involving the neck. The
DE   dystonia most often progresses to involve other regions, particularly
DE   the face and laryngeal muscles, and less commonly the trunk and limbs.
SY   Dystonia-25.
DR   MIM; 615073; phenotype.
DR   MedGen; C3554447.
DR   MedGen; CN165617.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 26, myoclonic.
AC   DI-04408
AR   DYT26.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT26 is an autosomal dominant, progressive disorder characterized by
DE   a combination of non-epileptic myoclonic jerks and dystonia. Affected
DE   individuals manifest myoclonic jerks in the upper limbs during the
DE   first or second decade of life, and later develop dystonia with
DE   predominant involvement of the craniocervical regions and sometimes
DE   the trunk and/or lower limbs.
DR   MIM; 616398; phenotype.
DR   MedGen; CN230764.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 27.
AC   DI-04449
AR   DYT27.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT27 is an autosomal recessive form characterized by segmental
DE   isolated dystonia involving the face, neck, bulbar muscles, and upper
DE   limbs.
DR   MIM; 616411; phenotype.
DR   MedGen; CN231151.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 28, childhood-onset.
AC   DI-04935
AR   DYT28.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT28 is an autosomal dominant, progressive form characterized by
DE   onset in the first decade of life and variable severity. Dystonia
DE   begins focally in the lower limbs, resulting in gait difficulties,
DE   with later progression to other body regions, including the upper
DE   limbs, neck, and orofacial region.
DR   MIM; 617284; phenotype.
DR   MedGen; CN239941.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 3, torsion, X-linked.
AC   DI-00414
AR   DYT3.
DE   An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the
DE   presence of sustained involuntary muscle contractions, often leading
DE   to abnormal postures. DYT3 is characterized by severe progressive
DE   torsion dystonia followed by parkinsonism. It has a well-defined
DE   pathology of extensive neuronal loss and mosaic gliosis in the
DE   striatum (caudate nucleus and putamen) which appears to resemble that
DE   in Huntington disease.
SY   Dystonia-3.
SY   Lubag.
SY   Torsion dystonia-parkinsonism Filipino type.
SY   XDP.
SY   X-linked dystonia-parkinsonism.
SY   X-linked torsion dystonia 3.
DR   MIM; 314250; phenotype.
DR   MedGen; C1839130.
DR   MeSH; D004421.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Dystonia 30.
AC   DI-06091
AR   DYT30.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT30 is characterized by early onset and predominantly cervical,
DE   bulbar, orofacial, and upper limb involvement. Some patients have a
DE   more complex phenotype with neurocognitive impairment, including mild
DE   intellectual disability or psychiatric manifestations. Loss of
DE   ambulation is observed in some cases. DYT30 inheritance is autosomal
DE   dominant with incomplete penetrance.
DR   MIM; 619291; phenotype.
DR   MedGen; CN296513.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 31.
AC   DI-06261
AR   DYT31.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT31 is an autosomal recessive, progressive form with onset from
DE   childhood to young adulthood. Involuntary muscle twisting movements
DE   and postural abnormalities affect the upper and lower limbs, neck,
DE   face, and trunk. Some patients may have orofacial dyskinesia resulting
DE   in articulation and swallowing difficulties.
SY   Zech-Boesch syndrome.
DR   MIM; 619565; phenotype.
DR   MedGen; CN301208.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 32.
AC   DI-06279
AR   DYT32.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT32 is an autosomal recessive, slowly progressive form with onset in
DE   adulthood and generalized involvement of the limbs, trunk, neck, and
DE   larynx, resulting in dysarthria and dysphagia. Brain imaging may show
DE   abnormalities in the basal ganglia.
DR   MIM; 619637; phenotype.
DR   MedGen; CN304979.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 33.
AC   DI-06304
AR   DYT33.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT33 is a slowly progressive form characterized by onset of focal or
DE   generalized dystonia in the first decades of life. Disease
DE   manifestations are variable. Some patients show ambulation
DE   difficulties, dysarthria, or dysphagia. Some affected individuals may
DE   manifest motor delay, lower limb spasticity, and mild developmental
DE   delay with intellectual disability. DYT33 penetrance is incomplete.
DE   Inheritance can be autosomal dominant or recessive.
DR   MIM; 619687; phenotype.
DR   MedGen; CN305744.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 34, myoclonic.
AC   DI-06323
AR   DYT34.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT34 is an autosomal dominant form characterized by childhood-onset
DE   dystonia predominantly affecting hands and neck, with a fast tremor
DE   with superimposed myoclonus and, in some individuals, subtle
DE   cerebellar signs.
DR   MIM; 619724; phenotype.
DR   MedGen; CN306202.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 35, childhood-onset.
AC   DI-06446
AR   DYT35.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT35 is an autosomal recessive form characterized by the onset of a
DE   dystonic movement disorder in the first year of life.
DR   MIM; 619921; phenotype.
DR   MedGen; CN315593.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 37, early-onset, with striatal lesions.
AC   DI-06706
AR   DYT37.
DE   A form of dystonia, a disorder defined by the presence of sustained
DE   involuntary muscle contraction, often leading to abnormal postures.
DE   DYT37 is an autosomal recessive form characterized by the onset of
DE   progressive dystonia, dysphagia, and choreoathetosis in the first
DE   months or years of life. Affected individuals show delayed motor
DE   development and may have impaired intellectual development.
DR   MIM; 620427; phenotype.
DR   MedGen; CN372239.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 4, torsion, autosomal dominant.
AC   DI-03777
AR   DYT4.
DE   A form of torsion dystonia, a disease defined by the presence of
DE   sustained involuntary muscle contractions, often leading to abnormal
DE   postures. 'Torsion' refers to the twisting nature of body movements,
DE   often affecting the trunk. DYT4 is characterized by onset in the
DE   second to third decade of progressive laryngeal dysphonia followed by
DE   the involvement of other muscles, such as the neck or limbs. Some
DE   patients develop an ataxic gait.
SY   Dystonia-4.
SY   Dystonia musculorum deformans 4.
SY   Hereditary whispering dysphonia.
DR   MIM; 128101; phenotype.
DR   MedGen; C1851943.
DR   MeSH; D004422.
KW   KW-1023:Dystonia.
//
ID   Dystonia 6, torsion.
AC   DI-00416
AR   DYT6.
DE   A primary torsion dystonia. Dystonia is defined by the presence of
DE   sustained involuntary muscle contractions, often leading to abnormal
DE   postures. Dystonia type 6 is characterized by onset in early
DE   adulthood, cranial or cervical involvement in about half of the cases,
DE   and frequent progression to involve multiple body regions.
SY   Adult-onset torsion dystonia mixed type.
SY   Autosomal dominant torsion dystonia 6.
SY   Dystonia-6.
SY   Torsion dystonia type 6.
DR   MIM; 602629; phenotype.
DR   MedGen; C1414216.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 8.
AC   DI-00417
AR   DYT8.
DE   A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined
DE   by the presence of sustained involuntary muscle contractions, often
DE   leading to abnormal postures. Dystonia type 8 is characterized by
DE   attacks of involuntary movements brought on by stress, alcohol,
DE   fatigue or caffeine. The attacks generally last between a few seconds
DE   and four hours or longer. The attacks may begin in one limb and spread
DE   throughout the body, including the face.
SY   Choreoathetosis nonkinesigenic.
SY   Dystonia-8.
SY   Familial paroxysmal choreoathetosis.
SY   FPD1.
SY   Mount-Reback syndrome.
SY   Paroxysmal dystonic choreoathetosis.
SY   Paroxysmal nonkinesigenic dyskinesia 1.
SY   PDC.
SY   PNKD1.
DR   MIM; 118800; phenotype.
DR   MedGen; C1869117.
DR   MeSH; D002819.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 9.
AC   DI-03550
AR   DYT9.
DE   An autosomal dominant neurologic disorder characterized by childhood
DE   onset of paroxysmal choreoathetosis and progressive spastic
DE   paraplegia. Most patients show some degree of cognitive impairment.
DE   Other variable features may include seizures, migraine headaches, and
DE   ataxia.
SY   CSE.
SY   Dystonia-9.
SY   Episodic choreoathetosis/spasticity.
SY   Kinesigenic choreoathetosis with episodic ataxia and spasticity.
SY   Paroxysmal choreoathetosis with episodic ataxia.
DR   MIM; 601042; phenotype.
DR   MedGen; C1832855.
DR   MeSH; D002819.
DR   MeSH; D009128.
KW   KW-1023:Dystonia.
//
ID   Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.
AC   DI-04936
AR   DYTOABG.
DE   An autosomal recessive neurologic disorder characterized by childhood-
DE   onset dystonia, basal ganglia degeneration and optic atrophy with
DE   decreased visual acuity. Dystonia is defined by the presence of
DE   sustained involuntary muscle contraction, often leading to abnormal
DE   postures. DYTOABG severity is variable, and some patients lose
DE   independent ambulation.
SY   Dystonia 29, childhood-onset.
SY   DYT29.
SY   MEPAN syndrome.
DR   MIM; 617282; phenotype.
DR   MedGen; CN239942.
DR   MeSH; D001480.
DR   MeSH; D009896.
DR   MeSH; D020821.
KW   KW-1023:Dystonia.
//
ID   Dystonia, dopa-responsive.
AC   DI-00415
AR   DRD.
DE   A form of dystonia that responds to L-DOPA treatment without side
DE   effects. Dystonia is defined by the presence of sustained involuntary
DE   muscle contractions, often leading to abnormal postures. DRD typically
DE   presents in childhood with walking problems due to dystonia of the
DE   lower limbs and worsening of the dystonia towards the evening. It is
DE   characterized by postural and motor disturbances showing marked
DE   diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are
DE   alleviated after sleep and aggravated by fatigue and exercise.
SY   Autosomal dominant dopa-responsive dystonia.
SY   Autosomal dominant Segawa syndrome.
SY   DRD.
SY   Dystonia 5.
SY   Dystonia-5.
SY   Dystonia-parkinsonism with diurnal fluctuation.
SY   DYT5.
SY   Progressive dystonia with diurnal fluctuation.
DR   MIM; 128230; phenotype.
DR   MedGen; C1851920.
DR   MeSH; D004421.
DR   MeSH; D020821.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency.
AC   DI-00411
AR   DRDSPRD.
DE   A form of DOPA-responsive dystonia. In the majority of cases, patients
DE   manifest progressive psychomotor retardation, dystonia and spasticity.
DE   Cognitive anomalies are also often present. The disease is due to
DE   severe dopamine and serotonin deficiencies in the central nervous
DE   system caused by a defect in BH4 synthesis. Dystonia is defined by the
DE   presence of sustained involuntary muscle contractions, often leading
DE   to abnormal postures.
SY   Motor and cognitive disorder due to sepiapterin reductase deficiency.
SY   Sepiapterin reductase deficiency.
SY   SPR deficiency.
DR   MIM; 612716; phenotype.
DR   MedGen; C0268468.
DR   MeSH; D004421.
DR   MeSH; D011596.
KW   KW-1023:Dystonia.
//
ID   Dystonia, early-onset, and/or spastic paraplegia.
AC   DI-06301
AR   DYTSPG.
DE   An autosomal dominant, highly penetrant movement disorder
DE   characterized by spastic paraplegia and/or dystonia to varying degrees
DE   in affected individuals. Cognition is not affected. There is high
DE   intra- and interfamilial variability in phenotype and age of onset.
DE   Some patients have onset of progressive focal or generalized dystonia
DE   in the first decade, whereas others develop progressive spastic
DE   paraplegia as adults. Some affected individuals have manifestations of
DE   both disorders.
DR   MIM; 619681; phenotype.
DR   MedGen; CN305735.
DR   MeSH; D015419.
DR   MeSH; D020821.
KW   KW-0890:Hereditary spastic paraplegia.
KW   KW-1023:Dystonia.
//
ID   Dystonia-deafness syndrome 1.
AC   DI-00412
AR   DDS1.
DE   An autosomal dominant form of dystonia with juvenile onset, associated
DE   with congenital or childhood-onset sensorineural deafness. Dystonia is
DE   defined by the presence of sustained involuntary muscle contraction,
DE   often leading to abnormal postures. Some DDS1 patients have dysmorphic
DE   features, skeletal anomalies, and/or mild developmental delay with
DE   impaired intellectual development.
SY   DJO.
SY   Dystonia, juvenile-onset.
DR   MIM; 607371; phenotype.
DR   MedGen; C1846331.
DR   MeSH; D004421.
KW   KW-0209:Deafness.
KW   KW-1023:Dystonia.
//
ID   Dystrophia myotonica 1.
AC   DI-02023
AR   DM1.
DE   A muscular disorder characterized by myotonia, muscle wasting in the
DE   distal extremities, cataract, hypogonadism, defective endocrine
DE   functions, male baldness and cardiac arrhythmias.
SY   DM.
SY   Dystrophia myotonica.
SY   Myotonic dystrophy 1.
SY   Steinert disease.
SY   Steinert myotonic dystrophy.
DR   MIM; 160900; phenotype.
DR   MedGen; C0027126.
DR   MedGen; C2931688.
DR   MeSH; D009223.
//
ID   Dystrophia myotonica 2.
AC   DI-02024
AR   DM2.
DE   A multisystem disease characterized by the association of proximal
DE   muscle weakness with myotonia, cardiac manifestations and cataract.
DE   Additional features can include hyperhidrosis, testicular atrophy,
DE   insulin resistance and diabetes and central nervous system anomalies
DE   in rare cases.
SY   Myotonic dystrophy 2.
SY   PROMM.
SY   Proximal myotonic myopathy.
SY   Ricker syndrome.
DR   MIM; 602668; phenotype.
DR   MedGen; C0752354.
DR   MedGen; C2931689.
DR   MeSH; D009223.
DR   MeSH; D020967.
//
ID   Early-onset hypertension with severe exacerbation in pregnancy.
AC   DI-01513
AR   EOHSEP.
DE   Inheritance is autosomal dominant. The disease is characterized by the
DE   onset of severe hypertension before the age of 20, and by suppression
DE   of aldosterone secretion.
DR   MIM; 605115; phenotype.
DR   MedGen; C1854631.
DR   MeSH; D006973.
//
ID   Ectodermal dysplasia 1, hypohidrotic, X-linked.
AC   DI-00430
AR   XHED.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures.
DE   Characterized by sparse hair (atrichosis or hypotrichosis), abnormal
DE   or missing teeth and the inability to sweat due to the absence of
DE   sweat glands. It is the most common form of over 150 clinically
DE   distinct ectodermal dysplasias.
SY   Christ-Siemens-Touraine syndrome.
SY   CST syndrome.
SY   ECTD1.
SY   Ectodermal dysplasia 1.
SY   Ectodermal dysplasia 1 hypohidrotic/hair/tooth type X-linked.
SY   Ectodermal dysplasia anhidrotic.
SY   ED1.
SY   EDA.
SY   EDA1.
SY   XLHED.
DR   MIM; 305100; phenotype.
DR   MedGen; C0162359.
DR   MeSH; D053358.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.
AC   DI-00432
AR   ECTD10A.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. It is an
DE   autosomal dominant condition characterized by hypotrichosis, abnormal
DE   or missing teeth, and hypohidrosis due to the absence of sweat glands.
SY   Ectodermal dysplasia 3.
SY   Ectodermal dysplasia hypohidrotic autosomal dominant.
SY   ED3.
SY   EDA3.
SY   HED.
DR   MIM; 129490; phenotype.
DR   MedGen; C1720965.
DR   MeSH; D053359.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.
AC   DI-00422
AR   ECTD10B.
DE   A disorder due to abnormal development of two or more ectodermal
DE   structures, and characterized by sparse hair (atrichosis or
DE   hypotrichosis), abnormal or missing teeth and the inability to sweat
DE   due to the absence of sweat glands.
SY   Ectodermal dysplasia anhidrotic.
SY   Ectodermal dysplasia hypohidrotic autosomal recessive.
SY   EDA.
SY   HED.
DR   MIM; 224900; phenotype.
DR   MedGen; C0406702.
DR   MeSH; D004476.
DR   MeSH; D053360.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant.
AC   DI-03617
AR   ECTD11A.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. It is an
DE   autosomal dominant condition characterized by hypotrichosis, abnormal
DE   or missing teeth, and hypohidrosis due to the absence of sweat glands.
SY   Ectodermal dysplasia hypohidrotic autosomal dominant.
SY   HED.
DR   MIM; 614940; phenotype.
DR   MedGen; C3541517.
DR   MedGen; CN160753.
DR   MeSH; D053359.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.
AC   DI-03618
AR   ECTD11B.
DE   A disorder due to abnormal development of two or more ectodermal
DE   structures, and characterized by sparse hair (atrichosis or
DE   hypotrichosis), abnormal or missing teeth and the inability to sweat
DE   due to the absence of sweat glands.
SY   Ectodermal dysplasia anhidrotic.
SY   Ectodermal dysplasia hypohidrotic autosomal recessive.
SY   EDA.
SY   HED.
DR   MIM; 614941; phenotype.
DR   MedGen; C3539920.
DR   MedGen; CN160754.
DR   MeSH; D004476.
DR   MeSH; D053360.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.
AC   DI-04948
AR   ECTD12.
DE   A form of ectodermal dysplasia, a disorder due to abnormal development
DE   of two or more ectodermal structures. ECTD12 is an autosomal dominant,
DE   hypohidrotic form characterized by sparse hair (atrichosis or
DE   hypotrichosis), abnormal or missing teeth, and the inability to sweat
DE   due to defective development of sweat glands.
DR   MIM; 617337; phenotype.
DR   MedGen; CN240497.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 13, hair/tooth type.
AC   DI-04968
AR   ECTD13.
DE   A form of ectodermal dysplasia, a disorder due to abnormal development
DE   of two or more ectodermal structures. ECTD13 is an autosomal recessive
DE   form characterized by severe oligodontia accompanied by anomalies of
DE   hair and skin.
DR   MIM; 617392; phenotype.
DR   MedGen; CN240911.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.
AC   DI-05382
AR   ECTD14.
DE   A form of ectodermal dysplasia, a disorder due to abnormal development
DE   of two or more ectodermal structures. ECTD14 is an autosomal recessive
DE   form characterized by scalp hypotrichosis, hypodontia, and mild facial
DE   dysmorphism. Some patients have decreased sweating.
DR   MIM; 618180; phenotype.
DR   MedGen; CN257776.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 15, hypohidrotic/hair type.
AC   DI-05636
AR   ECTD15.
DE   A form of ectodermal dysplasia, a disorder due to abnormal development
DE   of two or more ectodermal structures. ECTD15 is an autosomal recessive
DE   form characterized by hypotrichosis and absence of sweating except
DE   with extreme exercise. Skin is dry from birth and eczematous lesions
DE   may develop in adulthood. Other features include blepharitis and
DE   photophobia.
DR   MIM; 618535; phenotype.
DR   MedGen; CN262183.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 2, Clouston type.
AC   DI-00431
AR   ECTD2.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures such as
DE   hair, teeth, nails and sweat glands, with or without any additional
DE   clinical sign. Each combination of clinical features represents a
DE   different type of ectodermal dysplasia. ECTD2 is an autosomal dominant
DE   condition characterized by atrichosis, nail hypoplasia and
DE   deformities, hyperpigmentation of the skin, normal teeth, normal sweat
DE   and sebaceous gland function. Palmoplantar hyperkeratosis is a
DE   frequent feature. Hearing impairment has been detected in few cases.
SY   Clouston syndrome.
SY   Ectodermal dysplasia 2 hidrotic.
SY   Ectodermal dysplasia hidrotic autosomal dominant.
SY   ED2.
SY   HED2.
DR   MIM; 129500; phenotype.
DR   MedGen; C0162361.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Ectodermal dysplasia 3, Witkop type.
AC   DI-01148
AR   ECTD3.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures such as
DE   hair, teeth, nails and sweat glands, with or without any additional
DE   clinical sign. Each combination of clinical features represents a
DE   different type of ectodermal dysplasia. ECTD3 is characterized by
DE   abnormalities largely limited largely to teeth (some of which are
DE   missing) and nails (which are poorly formed early in life, especially
DE   toenails). This condition is distinguished from anhidrotic ectodermal
DE   dysplasia by autosomal dominant inheritance and little involvement of
DE   hair and sweat glands. The teeth are not as severely affected.
SY   Dysplasia of nails with hypodontia.
SY   Ectodermal dysplasia 3, tooth/nail type.
SY   Hypodontia-nail dysgenesis.
SY   TNS.
SY   Tooth-and-nail syndrome.
SY   Witkop syndrome.
DR   MIM; 189500; phenotype.
DR   MedGen; C0406735.
DR   MeSH; D000848.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia 4, hair/nail type.
AC   DI-00427
AR   ECTD4.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures such as
DE   hair, teeth, nails and sweat glands, with or without any additional
DE   clinical sign. Each combination of clinical features represents a
DE   different type of ectodermal dysplasia. ECTD4 is characterized by
DE   complete alopecia, hypotricosis and nail dystrophy in all digits.
DE   There is no evidence of any other abnormality. Inheritance can be
DE   autosomal dominant or recessive.
SY   Ectodermal dysplasia pure hair-nail type.
DR   MIM; 602032; phenotype.
DR   MedGen; C1865951.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1063:Hypotrichosis.
//
ID   Ectodermal dysplasia 7, hair/nail type.
AC   DI-04166
AR   ECTD7.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures such as
DE   hair, teeth, nails and sweat glands, with or without any additional
DE   clinical sign. Each combination of clinical features represents a
DE   different type of ectodermal dysplasia. Ectodermal dysplasia of the
DE   hair/nail type is characterized by hypotrichosis and nail dystrophy
DE   without non-ectodermal or other ectodermal manifestations.
DR   MIM; 614929; phenotype.
DR   MedGen; C3554117.
DR   MedGen; CN160609.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1063:Hypotrichosis.
//
ID   Ectodermal dysplasia 9, hair/nail type.
AC   DI-03620
AR   ECTD9.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures such as
DE   hair, teeth, nails and sweat glands, with or without any additional
DE   clinical sign. Each combination of clinical features represents a
DE   different type of ectodermal dysplasia. ECTD9 is characterized by
DE   hypotrichosis and nail dystrophy without non-ectodermal or other
DE   ectodermal manifestations. Hypotrichosis usually occurs after birth
DE   with varying degrees of severity, ranging from mild hair loss to
DE   complete atrichia, including the loss of scalp hair, beard, eyebrows,
DE   eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all
DE   20 digits by causing short fragile nails or spoon nails (koilonychia).
DR   MIM; 614931; phenotype.
DR   MedGen; C3554127.
DR   MedGen; CN160610.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia and immunodeficiency 1.
AC   DI-00424
AR   EDAID1.
DE   A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. EDAID1
DE   is an X-linked recessive disorder characterized by absence of sweat
DE   glands, sparse scalp hair, rare conical teeth and immunological
DE   abnormalities resulting in severe infectious diseases. Severely
DE   affected individuals may also show lymphedema, osteopetrosis, and,
DE   rarely, hematologic abnormalities. The phenotype is highly variable,
DE   and may be fatal in childhood.
SY   Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema.
SY   Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked.
SY   Ectodermal dysplasia anhidrotic with immune deficiency.
SY   Ectodermal dysplasia hypohidrotic with immunodeficiency.
SY   EDA-ID.
SY   HED-ID.
SY   Hyper-IgM immunodeficiency X-linked with ectodermal dysplasia hypohidrotic.
SY   NEMO deficiency.
SY   OLEDAID.
SY   XHM-ED.
DR   MIM; 300291; phenotype.
DR   MedGen; C1846006.
DR   MedGen; C1846007.
DR   MedGen; C1846008.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia and immunodeficiency 2.
AC   DI-00425
AR   EDAID2.
DE   A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. This
DE   form of ectodermal dysplasia is associated with decreased production
DE   of pro-inflammatory cytokines and certain interferons, rendering
DE   patients susceptible to infection. EDAID2 inheritance is autosomal
DE   dominant.
SY   Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant.
SY   Ectodermal dysplasia hypohidrotic with immunodeficiency.
SY   HED-ID.
DR   MIM; 612132; phenotype.
DR   MedGen; C2677481.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies.
AC   DI-05728
AR   EDFAOB.
DE   A neuroectodermal syndrome characterized by linear hypopigmentation,
DE   alopecia, apparently asymptomatic leukoencephalopathy, and facial,
DE   ocular, dental and acral anomalies. Patients show no intellectual or
DE   neurologic impairment.
DR   MIM; 618727; phenotype.
DR   MedGen; CN263104.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.
AC   DI-00433
AR   EEMS.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. It is an
DE   autosomal recessive condition characterized by features of ectodermal
DE   dysplasia such as sparse eyebrows and scalp hair, and selective tooth
DE   agenesis associated with macular dystrophy and ectrodactyly.
SY   Albrectsen-Svendsen syndrome.
SY   EEM syndrome.
SY   Ohdo-Hirayama-Terawaki syndrome.
DR   MIM; 225280; phenotype.
DR   MedGen; C1857041.
DR   MeSH; D004476.
DR   MeSH; D008268.
DR   MeSH; D017880.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, Margarita Island type.
AC   DI-00426
AR   EDMI.
DE   An autosomal recessive form of ectodermal dysplasia, a heterogeneous
DE   group of disorders due to abnormal development of two or more
DE   ectodermal structures. It is a syndrome characterized by the
DE   association of cleft lip/palate, ectodermal dysplasia (sparse short
DE   and dry scalp hair, sparse eyebrows and eyelashes), and partial
DE   syndactyly of the fingers and/or toes. Two thirds of the patients do
DE   not manifest oral cleft but present with abnormal teeth and nails.
SY   Cleft lip/palate-ectodermal dysplasia syndrome.
SY   CLPED1.
SY   Ectodermal dysplasia Margarita type.
SY   Ectodermal dysplasia type 4.
SY   ED4.
SY   Margarita Island ectodermal dysplasia.
SY   Syndactyly-ectodermal dysplasia-cleft lip/palate.
SY   Zlotogora-Ogur syndrome.
DR   MIM; 225060; phenotype.
DR   MedGen; C2931488.
DR   MedGen; CN074253.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia-skin fragility syndrome.
AC   DI-00429
AR   EDSFS.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures.
DE   Characterized by features of both cutaneous fragility and congenital
DE   ectodermal dysplasia affecting skin, hair and nails. There is no
DE   evidence of significant abnormalities in other epithelia or tissues.
DE   Desmosomes in the skin are small and poorly formed with widening of
DE   keratinocyte intercellular spaces and perturbed desmosome/keratin
DE   intermediate filament interactions.
SY   Ectodermal dysplasia/skin fragility syndrome.
SY   McGrath syndrome.
DR   MIM; 604536; phenotype.
DR   MedGen; C1858302.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia-syndactyly syndrome 1.
AC   DI-02899
AR   EDSS1.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. EDSS1 is
DE   characterized by the association of hair and teeth abnormalities with
DE   cutaneous syndactyly of the hands and/or feet. Hair morphologic
DE   abnormalities include twists at irregular intervals (pilli torti) and
DE   swelling along the shafts, particularly associated with areas of
DE   breakage. Dental findings consist of abnormally widely spaced teeth,
DE   with peg-shaped and conical crowns. Patients have normal sweating.
DR   MIM; 613573; phenotype.
DR   MedGen; C3150807.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia/short stature syndrome.
AC   DI-04239
AR   ECTDS.
DE   An autosomal recessive ectodermal dysplasia syndrome characterized by
DE   nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation,
DE   abnormal dentition, keratoderma affecting the margins of the palms and
DE   soles, focal hyperkeratosis of the dorsal aspects of the hands and
DE   feet, and short stature.
DR   MIM; 616029; phenotype.
DR   MedGen; CN219576.
DR   MeSH; D004392.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0242:Dwarfism.
//
ID   Ectopia lentis 1, isolated, autosomal dominant.
AC   DI-01839
AR   ECTOL1.
DE   An ocular abnormality characterized by partial or complete
DE   displacement of the lens from its space resulting from defective
DE   zonule formation.
DR   MIM; 129600; phenotype.
DR   MedGen; C1851286.
DR   MedGen; C2746069.
DR   MedGen; C3149104.
DR   MedGen; C3541518.
DR   MeSH; D004479.
//
ID   Ectopia lentis 2, isolated, autosomal recessive.
AC   DI-01244
AR   ECTOL2.
DE   An ocular abnormality characterized by partial or complete
DE   displacement of the lens from its space resulting from defective
DE   zonule formation.
DR   MIM; 225100; phenotype.
DR   MedGen; C2673634.
DR   MeSH; D004479.
//
ID   Ectopia lentis et pupillae.
AC   DI-03690
AR   ECTOLP.
DE   An ocular abnormality characterized by displacement of the lenses and
DE   the pupils, associated with other ocular anomalies, but without
DE   systemic manifestations. The condition is usually bilateral, with the
DE   lenses and pupils displaced in opposite directions. Additional signs
DE   include enlarged corneal diameter, increased corneal astigmatism,
DE   increased anterior chamber depth, thinning and flattening of the iris
DE   with loss of crypts, angle malformation caused by enlarged iris
DE   processes, persistent pupillary membrane, loss of zonular fibers,
DE   tilted disk, and increased axial length. Secondary manifestations
DE   include refractive errors, glaucoma, early cataract development, and
DE   retinal detachment. Membrane formation on the posterior aspect of the
DE   iris has been observed both in histologic sections and on ultrasound
DE   biomicroscopy.
DR   MIM; 225200; phenotype.
DR   MedGen; C1644196.
DR   MeSH; D004479.
DR   MeSH; D011681.
//
ID   Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.
AC   DI-00434
AR   EEC3.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures. It is an
DE   autosomal dominant syndrome characterized by ectrodactyly of hands and
DE   feet, ectodermal dysplasia and facial clefting.
DR   MIM; 604292; phenotype.
DR   MedGen; C1858562.
DR   MeSH; D002972.
DR   MeSH; D004476.
DR   MeSH; D017880.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ehlers-Danlos syndrome, arthrochalasia type, 1.
AC   DI-00442
AR   EDSARTH1.
DE   A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE   characterized by hyperextensible skin, atrophic cutaneous scars due to
DE   tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal
DE   dominant form characterized by frequent congenital hip dislocation and
DE   extreme joint laxity with recurrent joint subluxations and minimal
DE   skin involvement.
SY   Arthrochalasis multiplex congenita.
SY   EDS7A.
SY   EDS VIIA.
SY   EDS VII mutant procollagen type.
SY   Ehlers-Danlos syndrome 7A.
SY   Ehlers-Danlos syndrome arthrochalasic type.
SY   Ehlers-Danlos syndrome type VIIA, autosomal dominant.
DR   MIM; 130060; phenotype.
DR   MedGen; CN071434.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, arthrochalasia type, 2.
AC   DI-05166
AR   EDSARTH2.
DE   A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE   characterized by hyperextensible skin, atrophic cutaneous scars due to
DE   tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal
DE   dominant condition characterized by frequent congenital hip
DE   dislocation and extreme joint laxity with recurrent joint subluxations
DE   and minimal skin involvement.
SY   EDS7B.
SY   EDS VIIB.
SY   Ehlers-Danlos syndrome, type VIIB, autosomal dominant.
SY   Ehlers-Danlos syndrome 7B.
DR   MIM; 617821; phenotype.
DR   MedGen; CN706304.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, cardiac valvular type.
AC   DI-01317
AR   EDSCV.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSCV is an autosomal recessive
DE   disease characterized by mitral valve prolapse and insufficiency,
DE   mitral regurgitation, and aortic insufficiency, in addition to joint
DE   laxity, skin hyperextensibility and friability, and abnormal scar
DE   formation.
SY   Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.
DR   MIM; 225320; phenotype.
DR   MedGen; C1857034.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, classic type, 1.
AC   DI-00436
AR   EDSCL1.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. The main features of classic
DE   Ehlers-Danlos syndrome are joint hypermobility and dislocation, and
DE   fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant.
SY   EDS1.
SY   EDS I.
SY   Ehlers-Danlos syndrome, gravis type.
SY   Ehlers-Danlos syndrome, severe classic type.
SY   Ehlers-Danlos syndrome, type I.
SY   Ehlers-Danlos syndrome 1.
DR   MIM; 130000; phenotype.
DR   MedGen; C0268335.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, classic type, 2.
AC   DI-00437
AR   EDSCL2.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. The main features of classic
DE   Ehlers-Danlos syndrome are joint hypermobility and dislocation, and
DE   fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant.
SY   EDS2.
SY   EDS II.
SY   Ehlers-Danlos syndrome, type II.
SY   Ehlers-Danlos syndrome 2.
SY   Ehlers-Danlos syndrome mild classic type.
SY   Ehlers-Danlos syndrome mitis type.
DR   MIM; 130010; phenotype.
DR   MedGen; C0268336.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, classic-like.
AC   DI-01097
AR   EDSCLL.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSCLL patients lack atrophic
DE   scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome.
DE   Delayed wound healing is only present in a subset of patients. EDSCLL
DE   inheritance is autosomal recessive.
SY   EDS due to TNX deficiency.
SY   Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency.
SY   Ehlers-Danlos syndrome due to tenascin X deficiency.
SY   Tenascin-X deficiency.
SY   TNX deficiency.
DR   MIM; 606408; phenotype.
DR   MedGen; C1848029.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, classic-like, 2.
AC   DI-05255
AR   EDSCLL2.
DE   A variant form of Ehlers-Danlos syndrome, a connective tissue
DE   disorder. EDSCLL2 patients show severe joint and skin laxity,
DE   osteoporosis affecting the hips and spine, osteoarthritis, soft
DE   redundant skin that can be acrogeria-like, delayed wound healing with
DE   abnormal atrophic scarring, and shoulder, hip, knee, and ankle
DE   dislocations. Additional variable features include gastrointestinal
DE   and genitourinary manifestations (bowel rupture, gut dysmotility,
DE   cryptorchidism, and hernias), vascular complications (mitral valve
DE   prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2
DE   inheritance is autosomal recessive.
DR   MIM; 618000; phenotype.
DR   MedGen; CN248508.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, dermatosparaxis type.
AC   DI-00444
AR   EDSDERMS.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSDERMS is an autosomal
DE   recessive form characterized by extreme skin fragility and easy
DE   bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia,
DE   umbilical hernia, and short fingers. Joint hypermobility becomes more
DE   important with age.
SY   Dermatosparaxis.
SY   EDS7C.
SY   EDS VIIC.
SY   Ehlers-Danlos syndrome, type VII, autosomal recessive.
SY   Ehlers-Danlos syndrome 7C.
DR   MIM; 225410; phenotype.
DR   MedGen; C2700425.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-danlos syndrome, hypermobility type.
AC   DI-00438
AR   EDSHMB.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by
DE   marked joint hyperextensibility without skeletal deformity.
SY   Benign hypermobility syndrome.
SY   EDS III.
SY   Ehlers-Danlos syndrome, hypermobility type.
SY   Ehlers-Danlos syndrome, type III.
DR   MIM; 130020; phenotype.
DR   MedGen; C0268337.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, kyphoscoliotic type, 1.
AC   DI-00440
AR   EDSKSCL1.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSKSCL1 is an autosomal
DE   recessive form characterized by severe muscle hypotonia at birth,
DE   generalized joint laxity, scoliosis at birth, and scleral fragility
DE   and rupture of the ocular globe.
SY   EDS6.
SY   EDS6A.
SY   EDS VI.
SY   EDS VIA.
SY   Ehlers-Danlos syndrome 6.
SY   Ehlers-Danlos syndrome kyphoscoliotic type.
SY   Ehlers-Danlos syndrome oculoscoliotic type.
SY   Nevo syndrome.
DR   MIM; 225400; phenotype.
DR   MedGen; C0268342.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, kyphoscoliotic type, 2.
AC   DI-03408
AR   EDSKSCL2.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSKSCL2 is an autosomal
DE   recessive form characterized by severe generalized hypotonia at birth,
DE   myopathy, early-onset progressive kyphoscoliosis, joint hypermobility
DE   without contractures, hyperelastic skin with follicular
DE   hyperkeratosis, easy bruising, and occasional abnormal scarring,
DE   sensorineural hearing impairment, and normal pyridinoline excretion in
DE   urine.
SY   EDSKMH.
SY   Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.
DR   MIM; 614557; phenotype.
DR   MedGen; C3281160.
DR   MeSH; D004535.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, musculocontractural type 1.
AC   DI-02810
AR   EDSMC1.
DE   A form of Ehlers-Danlos syndrome characterized by distinctive
DE   craniofacial dysmorphism, congenital contractures of thumbs and
DE   fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia,
DE   hyperextensible thin skin with easy bruisability and atrophic
DE   scarring, wrinkled palms, joint hypermobility, and ocular involvement.
SY   Adducted thumb-clubfoot syndrome.
SY   Adducted thumbs-arthrogryposis Dundar type.
SY   Arthrogryposis distal with peculiar facies and hydronephrosis.
SY   ATCS.
SY   Dundar syndrome.
SY   EDS6B formerly.
SY   EDSMC.
SY   Ehlers-Danlos syndrome type VIB formerly.
DR   MIM; 601776; phenotype.
DR   MedGen; C1866294.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, musculocontractural type 2.
AC   DI-03960
AR   EDSMC2.
DE   A form of Ehlers-Danlos syndrome characterized by progressive
DE   multisystem manifestations, including joint dislocations and
DE   deformities, skin hyperextensibility, skin bruisability and fragility
DE   with recurrent large subcutaneous hematomas, cardiac valvular,
DE   respiratory, gastrointestinal, and ophthalmologic complications. Motor
DE   developmental delay is associated with muscle hypoplasia, muscle
DE   weakness, and an abnormal muscle fiber pattern in histology in
DE   adulthood.
DR   MIM; 615539; phenotype.
DR   MedGen; C3809845.
DR   MedGen; CN181762.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, periodontal type, 1.
AC   DI-04848
AR   EDSPD1.
DE   A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE   characterized by hyperextensible skin, atrophic cutaneous scars due to
DE   tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the
DE   association of typical features of Ehlers-Danlos syndrome with
DE   gingival recession and severe early-onset periodontal disease, leading
DE   to premature loss of permanent teeth. EDSPD1 inheritance is autosomal
DE   dominant.
SY   EDS8.
SY   EDS VIII.
SY   Ehlers-Danlos syndrome, periodontitis type.
SY   Ehlers-Danlos syndrome, periodontosis type.
SY   Ehlers-Danlos syndrome, type VIII.
DR   MIM; 130080; phenotype.
DR   MedGen; C0268347.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, periodontal type, 2.
AC   DI-04849
AR   EDSPD2.
DE   A form of Ehlers-Danlos syndrome, a connective tissue disorder
DE   characterized by hyperextensible skin, atrophic cutaneous scars due to
DE   tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the
DE   association of typical features of Ehlers-Danlos syndrome with
DE   gingival recession and severe early-onset periodontal disease, leading
DE   to premature loss of permanent teeth. EDSPD2 transmission pattern is
DE   consistent with autosomal dominant inheritance.
DR   MIM; 617174; phenotype.
DR   MedGen; CN238849.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, spondylodysplastic type, 1.
AC   DI-00435
AR   EDSSPD1.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive
DE   form characterized by short stature, developmental anomalies of the
DE   forearm bones and elbow, and bowing of extremities, in addition to the
DE   classic features of Ehlers-Danlos syndrome.
SY   Defective biosynthesis of PDS.
SY   Defective biosynthesis of proteodermatan sulfate.
SY   EDSP1.
SY   EDSSLA.
SY   Ehlers-Danlos syndrome, progeroid type, 1.
SY   Ehlers-Danlos syndrome with short stature and limb anomalies.
SY   Galactosyltransferase I deficiency.
SY   XGPT deficiency.
SY   Xylosylprotein 4-beta-galactosyltransferase deficiency.
DR   MIM; 130070; phenotype.
DR   MedGen; C1869122.
DR   MeSH; D004535.
KW   KW-0242:Dwarfism.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, spondylodysplastic type, 2.
AC   DI-03844
AR   EDSSPD2.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive
DE   form characterized by an aged appearance, developmental delay, short
DE   stature, craniofacial disproportion, generalized osteopenia, defective
DE   wound healing, hypermobile joints, hypotonic muscles, and loose but
DE   elastic skin.
SY   EDSP2.
SY   Ehlers-Danlos syndrome, progeroid type, 2.
DR   MIM; 615349; phenotype.
DR   MedGen; C3809210.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, spondylodysplastic type, 3.
AC   DI-01517
AR   EDSSPD3.
DE   A form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive
DE   form characterized by a generalized skeletal dysplasia involving
DE   mainly the spine and striking clinical abnormalities of the hands, in
DE   addition to classic features of Ehlers-Danlos syndrome. Clinical
DE   features include postnatal growth retardation, moderate short stature,
DE   protuberant eyes with bluish sclerae, hands with finely wrinkled
DE   palms, atrophy of the thenar muscles, and tapering fingers. Radiologic
DE   features include mild to moderate platyspondyly, mild to moderate
DE   osteopenia of the spine, small ileum, flat proximal femoral epiphyses,
DE   short, wide femoral necks, and broad metaphyses (elbows, knees,
DE   wrists, and interphalangeal joints).
SY   Ehlers-Danlos syndrome-like spondylocheirodysplasia.
SY   SCD-EDS.
DR   MIM; 612350; phenotype.
DR   MedGen; C2676510.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, vascular type.
AC   DI-00439
AR   EDSVASC.
DE   A severe form of Ehlers-Danlos syndrome, a group of connective tissue
DE   disorders characterized by skin hyperextensibility, articular
DE   hypermobility, and tissue fragility. EDSVASC is an autosomal dominant
DE   disease characterized by joint and dermal manifestations as in other
DE   forms of the syndrome, and by proneness to spontaneous rupture of
DE   bowel and large arteries. The vascular complications may affect all
DE   anatomical areas.
SY   EDS4.
SY   EDS IV.
SY   Ehlers-Danlos syndrome, type IV, autosomal dominant.
SY   Ehlers-Danlos syndrome 4.
SY   Ehlers-Danlos syndrome arterial type.
SY   Ehlers-Danlos syndrome ecchymotic type.
SY   Sack-Barabas syndrome.
DR   MIM; 130050; phenotype.
DR   MedGen; C0268338.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Eiken syndrome.
AC   DI-01518
AR   EKNS.
DE   An autosomal recessive skeletal dysplasia characterized by severely
DE   retarded ossification, principally of the epiphyses, pelvis, hands and
DE   feet, as well as by abnormal modeling of the bones in hands and feet,
DE   abnormal persistence of cartilage in the pelvis and mild growth
DE   retardation.
SY   Bone modeling defect of hands and feet.
SY   Eiken skeletal dysplasia.
DR   MIM; 600002; phenotype.
DR   MedGen; C1838779.
DR   MeSH; D010009.
//
ID   Elejalde syndrome.
AC   DI-01519
AR   ELEJAS.
DE   Autosomal recessive condition characterized by skin hypopigmentation,
DE   the presence of large clumps of pigment in hair shafts, silvery-gray
DE   hair, accumulation of melanosomes in melanocytes and primary
DE   neurological abnormalities. Elejalde syndrome may be the same entity
DE   as Griscelli syndrome type I.
SY   Elejalde disease.
SY   Neuroectodermal melanolysosomal disease.
DR   MIM; 256710; phenotype.
DR   MedGen; C1850466.
DR   MeSH; D010859.
DR   MeSH; D020752.
//
ID   Elliptocytosis 1.
AC   DI-00445
AR   EL1.
DE   A Rhesus-linked form of hereditary elliptocytosis, a genetically
DE   heterogeneous, autosomal dominant hematologic disorder. It is
DE   characterized by variable hemolytic anemia and elliptical or oval red
DE   cell shape.
SY   Elliptocytosis Rhesus-linked type.
SY   Ovalocytosis.
DR   MIM; 611804; phenotype.
DR   MedGen; C2678497.
DR   MeSH; D004612.
KW   KW-0250:Elliptocytosis.
//
ID   Elliptocytosis 2.
AC   DI-00446
AR   EL2.
DE   A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
DE   heterogeneous, autosomal dominant hematologic disorder. It is
DE   characterized by variable hemolytic anemia and elliptical or oval red
DE   cell shape.
SY   Elliptocytosis Rhesus-unlinked type.
SY   Ovalocytosis.
DR   MIM; 130600; phenotype.
DR   MedGen; C1851741.
DR   MeSH; D004612.
KW   KW-0250:Elliptocytosis.
//
ID   Elliptocytosis 3.
AC   DI-00447
AR   EL3.
DE   A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
DE   heterogeneous hematologic disorder characterized by variable hemolytic
DE   anemia and elliptical or oval red cell shape. Inheritance can be
DE   autosomal dominant or autosomal recessive.
SY   Elliptocytosis Rhesus-unlinked type.
SY   Ovalocytosis.
DR   MIM; 617948; phenotype.
DR   MedGen; C1866810.
DR   MeSH; D004612.
KW   KW-0250:Elliptocytosis.
//
ID   Ellis-van Creveld syndrome.
AC   DI-00449
AR   EVC.
DE   An autosomal recessive condition characterized by the clinical tetrad
DE   of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac
DE   anomalies. Patients manifest short-limb dwarfism, short ribs,
DE   postaxial polydactyly, and dysplastic nails and teeth. Congenital
DE   heart defects, most commonly an atrioventricular septal defect, are
DE   observed in 60% of affected individuals.
SY   Chondroectodermal dysplasia.
SY   Mesoectodermal dysplasia.
DR   MIM; 225500; phenotype.
DR   MedGen; C0013903.
DR   MeSH; D004613.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
ID   Elsahy-Waters syndrome.
AC   DI-05231
AR   ESWS.
DE   An autosomal recessive syndrome characterized by moderate intellectual
DE   disability, hypospadias and characteristic craniofacial morphology,
DE   which includes brachycephaly, facial asymmetry, exotropia,
DE   hypertelorism, telechantus, broad nose, concave nasal ridge,
DE   underdeveloped mid-face, prognathism, and radicular dentin dysplasia.
SY   Brachioskeletogenital syndrome.
SY   BSG syndrome.
SY   Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss.
DR   MIM; 211380; phenotype.
DR   MedGen; C0809936.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Emery-Dreifuss muscular dystrophy 1, X-linked.
AC   DI-02444
AR   EDMD1.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   EMD1.
SY   Humeroperoneal neuromuscular disease.
SY   Muscular dystrophy tardive Dreifuss-Emery type with contractures.
SY   Scapuloperoneal syndrome X-linked.
SY   X-EDMD.
SY   X-linked Emery-Dreifuss muscular dystrophy.
DR   MIM; 310300; phenotype.
DR   MedGen; C0751337.
DR   MedGen; C2931858.
DR   MedGen; CN069573.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 2, autosomal dominant.
AC   DI-01520
AR   EDMD2.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   Autosomal dominant Emery-Dreifuss muscular dystrophy.
SY   Cardiomyopathy, dilated, with quadriceps myopathy.
SY   EMD2.
SY   Hauptmann-Thannhauser muscular dystrophy.
SY   LGMD1B.
SY   Limb-girdle muscular dystrophy 1B.
SY   Muscular dystrophy, limb-girdle, type 1B.
SY   Muscular dystrophy, proximal, type 1B.
SY   Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant.
SY   Scapuloilioperoneal atrophy with cardiopathy.
DR   MIM; 181350; phenotype.
DR   MedGen; C0410190.
DR   MeSH; D020389.
KW   KW-0122:Cardiomyopathy.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 3, autosomal recessive.
AC   DI-03418
AR   EDMD3.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   Emery-Dreifuss muscular dystrophy atypical autosomal recessive.
DR   MIM; 616516; phenotype.
DR   MedGen; C2750034.
DR   MedGen; C2750035.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 4, autosomal dominant.
AC   DI-02519
AR   EDMD4.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   EMD4.
SY   Emery-Dreifuss muscular dystrophy 4 with variable features.
DR   MIM; 612998; phenotype.
DR   MedGen; C2751807.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 5, autosomal dominant.
AC   DI-02520
AR   EDMD5.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   EMD5.
DR   MIM; 612999; phenotype.
DR   MedGen; C2751805.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 6, X-linked.
AC   DI-03833
AR   EDMD6.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   EMD6.
DR   MIM; 300696; phenotype.
DR   MedGen; C2749106.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Emery-Dreifuss muscular dystrophy 7, autosomal dominant.
AC   DI-03705
AR   EDMD7.
DE   A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy
DE   characterized by weakness and atrophy of muscle without involvement of
DE   the nervous system, early contractures of the elbows, Achilles tendons
DE   and spine, and cardiomyopathy associated with cardiac conduction
DE   defects.
SY   EMD7.
DR   MIM; 614302; phenotype.
DR   MedGen; C3553060.
DR   MedGen; CN168055.
DR   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
ID   Encephalitis, acute, infection (viral)-induced, 11.
AC   DI-06170
AR   IIAE11.
DE   An autosomal recessive disorder characterized by increased
DE   susceptibility to viral encephalitis affecting the brainstem and
DE   induced by neurotropic viruses, such as herpes simplex virus-1,
DE   influenza B virus or norovirus.
DR   MIM; 619441; phenotype.
DR   MedGen; CN300067.
DR   MeSH; D018792.
//
ID   Encephalitis, acute, infection-induced, 12.
AC   DI-06739
AR   IIAE12.
DE   An autosomal recessive disorder apparent in infancy or early
DE   childhood, and characterized by acute encephalopathy triggered by
DE   viral infections and febrile illness. Neurologic features of the acute
DE   episodes include seizures, hemiplegia, decreased consciousness,
DE   hypotonia, abnormal posturing, feeding problems, and respiratory
DE   insufficiency. Disease severity is variable, ranging from death to
DE   normal neurologic outcomes.
SY   ANE2.
SY   Encephalopathy, acute, infection-induced, 12.
SY   Encephalopathy, acute necrotizing 2.
DR   MIM; 620461; phenotype.
DR   MedGen; CN372695.
DR   MeSH; D018792.
//
ID   Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.
AC   DI-05330
AR   MMERV.
DE   An autosomal dominant disease characterized by episodes of acute
DE   encephalitis associated with impaired consciousness, delirious
DE   behavior, seizures, and reversible splenial lesions observed on
DE   diffusion magnetic resonance imaging. Most patients completely recover
DE   and there are no neurologic sequelae. MMERV occurs in children and is
DE   frequently associated with a trigger, such as a febrile illness.
DR   MIM; 618113; phenotype.
DR   MedGen; CN253827.
DR   MeSH; D004660.
//
ID   Encephalocraniocutaneous lipomatosis.
AC   DI-04665
AR   ECCL.
DE   A sporadically occurring, neurocutaneous disorder characterized by
DE   ocular anomalies, skin lesions, and central nervous system anomalies.
DE   Clinical features include a well-demarcated hairless fatty nevus on
DE   the scalp, benign ocular tumors, intracranial and intraspinal lipomas,
DE   and congenital abnormalities of the meninges. Seizures, spasticity,
DE   and intellectual disability can be present.
DR   MIM; 613001; phenotype.
DR   MedGen; C0406612.
DR   MeSH; D008068.
DR   MeSH; D020752.
//
ID   Encephalopathy due to defective mitochondrial and peroxisomal fission 1.
AC   DI-03357
AR   EMPF1.
DE   A rare autosomal dominant systemic disorder resulting in lack of
DE   neurologic development and death in infancy. After birth, infants
DE   present in the first week of life with poor feeding and neurologic
DE   impairment, including hypotonia, little spontaneous movement, no
DE   tendon reflexes, no response to light stimulation, and poor visual
DE   fixation. Other features include mildly elevated plasma concentration
DE   of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-
DE   set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern
DE   in both frontal lobes associated with dysmyelination.
SY   EMPF.
SY   Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission.
SY   Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1.
DR   MIM; 614388; phenotype.
DR   MedGen; C3280660.
DR   MeSH; D000015.
//
ID   Encephalopathy due to defective mitochondrial and peroxisomal fission 2.
AC   DI-04810
AR   EMPF2.
DE   An autosomal recessive disorder characterized by delayed psychomotor
DE   development, severe hypotonia with inability to walk, microcephaly,
DE   and abnormal signals in the basal ganglia. More variable features
DE   include early-onset seizures, optic atrophy, and peripheral
DE   neuropathy.
DR   MIM; 617086; phenotype.
DR   MedGen; CN238093.
DR   MeSH; D000015.
//
ID   Encephalopathy, acute, infection-induced, 1, herpes-specific.
AC   DI-02573
AR   IIAE1.
DE   A rare complication of human herpesvirus 1 (HHV-1) infection,
DE   occurring in only a small minority of HHV-1 infected individuals. It
DE   is characterized by hemorrhagic necrosis of parts of the temporal and
DE   frontal lobes. Onset is over several days and involves fever,
DE   headache, seizures, stupor, and often coma, frequently with a fatal
DE   outcome.
SY   Encephalopathy, acute, infection-induced, 1.
SY   Herpes simplex encephalitis 1.
SY   HSE1.
SY   Infection-induced acute encephalopathy 1.
DR   MIM; 610551; phenotype.
DR   MedGen; C2750180.
DR   MeSH; D020803.
//
ID   Encephalopathy, acute, infection-induced, 3.
AC   DI-01172
AR   IIAE3.
DE   A rapidly progressive encephalopathy manifesting in susceptible
DE   individuals with seizures and coma. It can occur within days in
DE   otherwise healthy children after common viral infections such as
DE   influenza and parainfluenza, without evidence of viral infection of
DE   the brain or inflammatory cell infiltration. Brain T2-weighted
DE   magnetic resonance imaging reveals characteristic symmetric lesions
DE   present in the thalami, pons and brainstem.
SY   ANE1.
SY   Encephalopathy, acute necrotizing, 1.
SY   Encephalopathy acute infection-induced 3.
DR   MIM; 608033; phenotype.
DR   MedGen; C2675556.
DR   MeSH; D004684.
//
ID   Encephalopathy, acute, infection-induced, 4.
AC   DI-03272
AR   IIAE4.
DE   A severe neurologic complication of an infection. It manifests within
DE   days in otherwise healthy children after common viral infections,
DE   without evidence of viral infection of the brain or inflammatory cell
DE   infiltration. In affected children, high-grade fever is accompanied
DE   within 12 to 48 hours by febrile convulsions, often leading to coma,
DE   multiple-organ failure, brain edema, and high morbidity and mortality.
DE   The infections are usually viral, particularly influenza, although
DE   other viruses and even mycoplasma have been found to cause the
DE   disorder.
SY   Encephalopathy acute infection-induced 4.
DR   MIM; 614212; phenotype.
DR   MedGen; C3280160.
DR   MeSH; D018792.
//
ID   Encephalopathy, acute, infection-induced, 5, herpes-specific.
AC   DI-03543
AR   IIAE5.
DE   A rare complication of human herpesvirus 1 (HHV-1) infection,
DE   occurring in only a small minority of HHV-1 infected individuals. It
DE   is characterized by hemorrhagic necrosis of parts of the temporal and
DE   frontal lobes. Onset is over several days and involves fever,
DE   headache, seizures, stupor, and often coma, frequently with a fatal
DE   outcome.
SY   Encephalopathy, acute, infection-induced, 5.
SY   Herpes simplex encephalitis 3.
SY   HSE3.
SY   Infection-induced acute encephalopathy 5.
DR   MIM; 614849; phenotype.
DR   MedGen; C3553868.
DR   MeSH; D020803.
//
ID   Encephalopathy, acute, infection-induced, 6, herpes-specific.
AC   DI-03544
AR   IIAE6.
DE   A rare complication of human herpesvirus 1 (HHV-1) infection,
DE   occurring in only a small minority of HHV-1 infected individuals. It
DE   is characterized by hemorrhagic necrosis of parts of the temporal and
DE   frontal lobes. Onset is over several days and involves fever,
DE   headache, seizures, stupor, and often coma, frequently with a fatal
DE   outcome.
SY   Encephalopathy, acute, infection-induced, 6.
SY   Herpes simplex encephalitis 4.
SY   HSE4.
DR   MIM; 614850; phenotype.
DR   MedGen; C3553869.
DR   MeSH; D020803.
//
ID   Encephalopathy, acute, infection-induced, 7, herpes-specific.
AC   DI-04529
AR   IIAE7.
DE   A rare complication of human herpesvirus 1 (HHV-1) infection,
DE   occurring in only a small minority of HHV-1 infected individuals. It
DE   is characterized by hemorrhagic necrosis of parts of the temporal and
DE   frontal lobes. Onset is over several days and involves fever,
DE   headache, seizures, stupor, and often coma, frequently with a fatal
DE   outcome.
SY   Encephalopathy, acute, infection-induced, 7.
SY   Herpes simplex encephalitis 7.
SY   HSE7.
SY   Infection-induced acute encephalopathy 7.
DR   MIM; 616532; phenotype.
DR   MedGen; C4225294.
DR   MeSH; D020803.
//
ID   Encephalopathy, acute, infection-induced, 8, herpes-specific.
AC   DI-05212
AR   IIAE8.
DE   A rare, often fatal complication of herpes simplex infection, caused
DE   by virus spreading in the central nervous system. Disease
DE   manifestations include low-grade fever, severe headache, nausea,
DE   vomiting, and lethargy. Neurological features include confusion, acute
DE   memory disturbances, disorientation, behavioral changes, hemiparesis
DE   and seizures.
SY   Herpes simplex encephalitis 6.
DR   MIM; 617900; phenotype.
DR   MedGen; CN865669.
DR   MeSH; D018792.
//
ID   Encephalopathy, acute, infection-induced, 9.
AC   DI-05581
AR   IIAE9.
DE   An autosomal recessive disorder characterized by infancy-onset of
DE   episodic neurodevelopmental regression in association with infection-
DE   induced febrile illness. Clinical features include poor overall
DE   growth, seizures, myoclonic jerks, microcephaly, ataxia, and
DE   cerebellar atrophy.
DR   MIM; 618426; phenotype.
DR   MedGen; CN260095.
DR   MeSH; D004684.
//
ID   Encephalopathy, familial, with neuroserpin inclusion bodies.
AC   DI-01567
AR   FENIB.
DE   A neurodegenerative disease clinically characterized by dementia.
DE   Additional features include intellectual decline, psychic seizures,
DE   progressive myoclonic epilepsy, and cerebral atrophy. Histologically,
DE   it is characterized by the presence of eosinophilic inclusion bodies
DE   (called Collins bodies) throughout the deeper layers of the cerebral
DE   cortex, leading to neuronal death.
SY   Familial encephalopathy with Collins bodies.
DR   MIM; 604218; phenotype.
DR   MedGen; C1858680.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, neonatal severe, due to MECP2 mutations.
AC   DI-02038
AR   ENS-MECP2.
DE   A neurodevelopmental disorder characterized by severe neonatal
DE   encephalopathy, developmental delay, intellectual disability,
DE   microcephaly, seizures. Additional features include respiratory
DE   insufficiency and central hypoventilation, gastroesophageal reflux,
DE   axial hypotonia, hyperreflexia and dyskinetic movements.
DR   MIM; 300673; phenotype.
DR   MedGen; C1968556.
DR   MeSH; D001927.
//
ID   Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.
AC   DI-05082
AR   NELABA.
DE   An autosomal recessive disorder characterized by severe encephalopathy
DE   with neonatal onset, metabolic features including lactic acidosis,
DE   little or no psychomotor development, and brain abnormalities
DE   including cerebral atrophy, cysts, and white matter abnormalities.
SY   Lipoyltransferase 2 deficiency.
SY   LIPT2D.
DR   MIM; 617668; phenotype.
DR   MedGen; CN469328.
DR   MeSH; D020739.
//
ID   Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.
AC   DI-05100
AR   PEBAS.
DE   An autosomal recessive, progressive encephalopathy characterized by
DE   central nervous system atrophy and dysfunction, spasticity,
DE   microcephaly, global developmental delay, and hearing loss.
DR   MIM; 617669; phenotype.
DR   MedGen; CN474476.
DR   MeSH; D001927.
KW   KW-0209:Deafness.
//
ID   Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum.
AC   DI-04876
AR   PEBAT.
DE   An autosomal recessive disease with neurodevelopmental and
DE   neurodegenerative features. PEBAT is characterized by early-onset
DE   cortical atrophy, hypomyelination, microcephaly, thin corpus callosum,
DE   delayed psychomotor development, developmental regression,
DE   intellectual disability, seizures, optic atrophy, muscle weakness and
DE   atrophy, spastic quadriplegia, and respiratory insufficiency due to
DE   hypotonia.
DR   MIM; 617193; phenotype.
DR   MedGen; CN239091.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.
AC   DI-04879
AR   PEBEL1.
DE   An autosomal recessive severe neurometabolic disorder characterized by
DE   severe leukoencephalopathy usually associated with a trivial febrile
DE   illness. Affected infants tend to show normal early development
DE   followed by acute psychomotor regression with ataxia, hypotonia,
DE   respiratory insufficiency, and seizures. Disease course is rapidly
DE   progressive, leading to coma, global brain atrophy, and death in the
DE   first years of life. Brain imaging shows multiple abnormalities,
DE   including brain edema and signal abnormalities in the cortical and
DE   subcortical regions.
DR   MIM; 617186; phenotype.
DR   MedGen; CN239055.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
AC   DI-05478
AR   PEBEL2.
DE   An autosomal recessive severe neurometabolic disorder characterized by
DE   severe leukoencephalopathy usually associated with a trivial febrile
DE   illness. Affected infants tend to show normal early development
DE   followed by acute psychomotor regression with ataxia, hypotonia,
DE   respiratory insufficiency, and seizures. Disease course is rapidly
DE   progressive, leading to coma, global brain atrophy, and death in the
DE   first years of life. Brain imaging shows multiple abnormalities,
DE   including brain edema and signal abnormalities in the cortical and
DE   subcortical regions.
DR   MIM; 618321; phenotype.
DR   MedGen; CN258203.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
AC   DI-05486
AR   PEERB.
DE   An autosomal recessive disease characterized by progressive
DE   encephalopathy exacerbated by febrile illness and associated with
DE   severe neurodevelopmental delay, episodes of rhabdomyolysis,
DE   developmental regression, epilepsy and tetraplegia.
DR   MIM; 618331; phenotype.
DR   MedGen; CN258216.
DR   MeSH; D004827.
DR   MeSH; D012206.
KW   KW-0887:Epilepsy.
//
ID   Encephalopathy, progressive, with amyotrophy and optic atrophy.
AC   DI-04873
AR   PEAMO.
DE   An autosomal recessive, progressive, neurodegenerative encephalopathy
DE   with onset in infancy. Affected individuals manifest delayed
DE   psychomotor development, severe hypotonia, motor regression, spinal
DE   muscular atrophy, distal amyotrophy and weakness of all limbs, and
DE   intellectual disability of variable severity. Additional features
DE   include optic atrophy, thin corpus callosum, and cerebellar atrophy.
DR   MIM; 617207; phenotype.
DR   MedGen; CN239146.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, progressive, with or without lipodystrophy.
AC   DI-04174
AR   PELD.
DE   A neurodegenerative disease characterized by developmental regression
DE   of motor and cognitive skills in the first years of life, often
DE   leading to death in the first decade, hyperactive behavior, seizures,
DE   tremor and ataxic gait. Patients may show a mild or typical
DE   lipodystrophic appearance.
DR   MIM; 615924; phenotype.
DR   MedGen; CN207619.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Enchondromatosis multiple.
AC   DI-01524
AR   ENCHOM.
DE   A condition characterized by multiple formation of enchondromas,
DE   benign neoplasms derived from mesodermal cells that form cartilage.
DE   Enchondromas remain within the substance of a cartilage or bone.
DE   Clinical problems caused by enchondromas include skeletal deformity
DE   and the potential for malignant change to osteosarcoma.
SY   Maffucci disease.
SY   Ollier disease.
SY   Osteochondromatosis.
DR   MIM; 166000; phenotype.
DR   MedGen; C0013366.
DR   MedGen; C0014084.
DR   MedGen; C0206641.
DR   MedGen; C3463923.
DR   MeSH; D018210.
//
ID   Endocrine-cerebroosteodysplasia.
AC   DI-01525
AR   ECO.
DE   Previously unidentified neonatal lethal recessive disorder with
DE   multiple anomalies involving the endocrine, cerebral, and skeletal
DE   systems.
DR   MIM; 612651; phenotype.
DR   MedGen; C2675227.
//
ID   Endometrial cancer.
AC   DI-01526
AR   ENDMC.
DE   A malignancy of endometrium, the mucous lining of the uterus. Most
DE   endometrial cancers are adenocarcinomas, cancers that begin in cells
DE   that make and release mucus and other fluids.
DR   MIM; 608089; phenotype.
DR   MedGen; C0476089.
DR   MeSH; D016889.
//
ID   Endosteal hyperostosis, Worth type.
AC   DI-00450
AR   WENHY.
DE   An autosomal dominant sclerosing bone dysplasia clinically
DE   characterized by elongation of the mandible, increased gonial angle,
DE   flattened forehead, and the presence of a slowly enlarging osseous
DE   prominence of the hard palate (torus palatinus). Serum calcium,
DE   phosphorus and alkaline phosphatase levels are normal. Radiologically,
DE   it is characterized by early thickening of the endosteum of long
DE   bones, the skull and of the mandible. With advancing age, the
DE   trabeculae of the metaphysis become thickened. WENHY becomes
DE   clinically and radiologically evident by adolescence, does not cause
DE   deformity except in the skull and mandible, and is not associated with
DE   bone pain or fracture. Affected patients have normal height,
DE   proportion, intelligence and longevity.
SY   Endosteal hyperostosis autosomal dominant.
SY   Hyperostosis corticalis generalisata benign form of Worth with torus palatinus.
SY   Osteosclerosis autosomal dominant.
SY   Worth syndrome.
DR   MIM; 144750; phenotype.
DR   MedGen; C0432273.
DR   MeSH; D010009.
//
ID   ENDOVE syndrome, limb-brain type.
AC   DI-06037
AR   ENDOVESLB.
DE   An autosomal recessive disorder characterized by marked mesomelic
DE   shortening of the lower limbs, severe hypoplasia of the tibia and
DE   fibula, absent talus, and rudimentary and short foot bones. Hands show
DE   short and malformed fingers with a missing digit, and nails are absent
DE   on some fingers. Affected individuals manifest neurologic symptoms
DE   including seizures and generalized hypotonia. Brain imaging reveals
DE   absence of the cerebellum and hypoplasia of the brain stem.
SY   Mesomelia of lower extremities with hand, foot, and brain anomalies.
SY   MLEHFB.
DR   MIM; 619218; phenotype.
DR   MedGen; CN295792.
DR   MeSH; D001848.
DR   MeSH; D001927.
KW   KW-0242:Dwarfism.
//
ID   ENDOVE syndrome, limb-only type.
AC   DI-06036
AR   ENDOVESL.
DE   An autosomal recessive disorder characterized by severe shortening and
DE   deformation of the legs and feet, 3/4 syndactyly of the hands, and
DE   toenails partially displaced to plantar surface. Radiographs show
DE   normal femora but severely shortened tibiae, triangular fibulae and
DE   malformed or absent bones in the feet. In addition, genitourinary
DE   anomalies have been observed.
SY   Mesomelia of lower extremities with hand and foot anomalies.
SY   MLEHF.
DR   MIM; 619217; phenotype.
DR   MedGen; CN295791.
DR   MeSH; D001848.
DR   MeSH; D013576.
KW   KW-0242:Dwarfism.
//
ID   Enhanced S cone syndrome.
AC   DI-01527
AR   ESCS.
DE   Autosomal recessive retinopathy in which patients have increased
DE   sensitivity to blue light; perception of blue light is mediated by
DE   what is normally the least populous cone photoreceptor subtype, the S
DE   (short wavelength, blue) cones. ESCS is also associated with visual
DE   loss, with night blindness occurring from early in life, varying
DE   degrees of L (long, red)- and M (middle, green)-cone vision, and
DE   retinal degeneration.
DR   MIM; 268100; phenotype.
DR   MedGen; C0339541.
DR   MedGen; C1849394.
//
ID   Enterokinase deficiency.
AC   DI-01528
AR   ENTKD.
DE   Life-threatening intestinal malabsorption disorder characterized by
DE   diarrhea and failure to thrive.
SY   Enteropeptidase deficiency.
DR   MIM; 226200; phenotype.
DR   MedGen; C0268416.
//
ID   Eosinophil peroxidase deficiency.
AC   DI-01529
AR   EPXD.
DE   A rare abnormality without clinical symptoms characterized by
DE   decreased or absent peroxidase activity and decreased volume of the
DE   granule matrix in eosinophils.
SY   Partial eosinophil peroxidase deficiency.
SY   Peroxidase and phospholipid deficiency in eosinophils.
SY   Presentey anomaly.
DR   MIM; 261500; phenotype.
DR   MedGen; C1850000.
DR   MeSH; D007960.
//
ID   Epidermodysplasia verruciformis 1.
AC   DI-01531
AR   EV1.
DE   A form of epidermodysplasia verruciformis, a rare genodermatosis
DE   associated with a high risk of skin carcinoma that results from an
DE   abnormal susceptibility to infection by specific human
DE   papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE   early development of disseminated flat wart-like and pityriasis
DE   versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE   invasive squamous cell carcinomas develop in about half of the
DE   patients, mainly on sun-exposed skin areas. EV1 inheritance is
DE   autosomal recessive.
DR   MIM; 226400; phenotype.
DR   MedGen; C0014522.
DR   MeSH; D004819.
//
ID   Epidermodysplasia verruciformis 2.
AC   DI-05436
AR   EV2.
DE   A form of epidermodysplasia verruciformis, a rare genodermatosis
DE   associated with a high risk of skin carcinoma that results from an
DE   abnormal susceptibility to infection by specific human
DE   papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE   early development of disseminated flat wart-like and pityriasis
DE   versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE   invasive squamous cell carcinomas develop in about half of the
DE   patients, mainly on sun-exposed skin areas. EV2 inheritance is
DE   autosomal recessive.
DR   MIM; 618231; phenotype.
DR   MedGen; CN257497.
DR   MeSH; D004819.
//
ID   Epidermodysplasia verruciformis 3.
AC   DI-05446
AR   EV3.
DE   A form of epidermodysplasia verruciformis, a rare genodermatosis
DE   associated with a high risk of skin carcinoma that results from an
DE   abnormal susceptibility to infection by specific human
DE   papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE   early development of disseminated flat wart-like and pityriasis
DE   versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE   invasive squamous cell carcinomas develop in about half of the
DE   patients, mainly on sun-exposed skin areas. EV3 inheritance is
DE   autosomal recessive.
DR   MIM; 618267; phenotype.
DR   MedGen; CN257949.
DR   MeSH; D004819.
//
ID   Epidermodysplasia verruciformis 4.
AC   DI-05470
AR   EV4.
DE   A form of epidermodysplasia verruciformis, a rare genodermatosis
DE   associated with a high risk of skin carcinoma that results from an
DE   abnormal susceptibility to infection by specific human
DE   papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE   early development of disseminated flat wart-like and pityriasis
DE   versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE   invasive squamous cell carcinomas develop in about half of the
DE   patients, mainly on sun-exposed skin areas. EV4 patients have
DE   decreased number of naive T cells, increased memory and effector T
DE   cells, and impaired T-cell receptor signaling. EV4 inheritance is
DE   autosomal recessive.
DR   MIM; 618307; phenotype.
DR   MedGen; CN258177.
DR   MeSH; D004819.
//
ID   Epidermodysplasia verruciformis 5.
AC   DI-05471
AR   EV5.
DE   A form of epidermodysplasia verruciformis, a rare genodermatosis
DE   associated with a high risk of skin carcinoma that results from an
DE   abnormal susceptibility to infection by specific human
DE   papillomaviruses, including the oncogenic HPV5. Infection leads to the
DE   early development of disseminated flat wart-like and pityriasis
DE   versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and
DE   invasive squamous cell carcinomas develop in about half of the
DE   patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell
DE   lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is
DE   autosomal recessive.
DR   MIM; 618309; phenotype.
DR   MedGen; CN258178.
DR   MeSH; D004819.
//
ID   Epidermolysis bullosa dystrophica, autosomal dominant.
AC   DI-00451
AR   DDEB.
DE   A group of autosomal dominant blistering skin diseases characterized
DE   by tissue separation which occurs below the dermal-epidermal basement
DE   membrane at the level of the anchoring fibrils. Various clinical types
DE   with different severity are recognized, ranging from severe mutilating
DE   forms to mild forms with limited and localized scarring, and less
DE   frequent extracutaneous manifestations.
SY   Albopapuloid dominant dystrophic epidermolysis bullosa.
SY   Autosomal dominant dystrophic epidermolysis bullosa.
SY   EBDCT.
SY   EBDD.
SY   Epidermolysis bullosa dystrophica, Cockayne-Touraine type.
SY   Epidermolysis bullosa dystrophica, Pasini type.
DR   MIM; 131750; phenotype.
DR   MedGen; C0432322.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, autosomal recessive.
AC   DI-03090
AR   RDEB.
DE   A group of autosomal recessive blistering skin diseases characterized
DE   by tissue separation which occurs below the dermal-epidermal basement
DE   membrane at the level of the anchoring fibrils. Various clinical types
DE   with different severity are recognized, ranging from severe mutilating
DE   forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens
DE   type, to mild forms with limited localized scarring and less frequent
DE   extracutaneous manifestations. Mild forms include epidermolysis
DE   bullosa mitis and epidermolysis bullosa localisata.
SY   Autosomal recessive dystrophic epidermolysis bullosa.
SY   EBR1.
SY   Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive.
SY   Epidermolysis bullosa dystrophica, Hallopeau-Siemens type.
DR   MIM; 226600; phenotype.
DR   MedGen; C0079474.
DR   MedGen; C2673611.
DR   MedGen; C2673612.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, Bart type.
AC   DI-00452
AR   B-DEB.
DE   An autosomal dominant form of dystrophic epidermolysis bullosa
DE   characterized by congenital localized absence of skin, skin fragility
DE   and deformity of nails.
SY   Epidermolysis bullosa with congenital localized absence of skin and deformity of nails.
DR   MIM; 132000; phenotype.
DR   MedGen; C0268371.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, pretibial type.
AC   DI-00455
AR   PR-DEB.
DE   A form of dystrophic epidermolysis bullosa characterized by pretibial
DE   blisters that develop into prurigo-like hyperkeratotic lesions. It
DE   predominantly affects the pretibial areas, sparing the knees and other
DE   parts of the skin. Other clinical features include nail dystrophy,
DE   albopapuloid skin lesions, and hypertrophic scars without pretibial
DE   predominance. The phenotype shows considerable interindividual
DE   variability. Inheritance is autosomal dominant.
DR   MIM; 131850; phenotype.
DR   MedGen; C0432321.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, with subcorneal cleavage.
AC   DI-00456
AR   EBDSC.
DE   A bullous skin disorder with variable sized clefts just beneath the
DE   level of the stratum corneum. Clinical features include blisters,
DE   milia, atrophic scarring, nail dystrophy, and oral and conjunctival
DE   involvement, as seen in dystrophic epidermolysis bullosa.
DR   MIM; 131750; phenotype.
DR   MedGen; C2675683.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa pruriginosa.
AC   DI-00460
AR   EBP.
DE   A distinct clinical subtype of epidermolysis bullosa dystrophica. It
DE   is characterized by skin fragility, blistering, scar formation,
DE   intense pruritus and excoriated prurigo nodules. Onset is in early
DE   childhood, but in some cases is delayed until the second or third
DE   decade of life. Inheritance can be autosomal dominant or recessive.
DR   MIM; 604129; phenotype.
DR   MedGen; C1275114.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 1A, generalized severe.
AC   DI-00462
AR   EBS1A.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS1A is an autosomal dominant form
DE   characterized by generalized intraepidermal skin blistering that
DE   begins and is very prominent at birth. EBS1A may be life-threatening
DE   in the first year of life. Tendency to blistering diminishes in
DE   adolescence.
SY   DM-EBS.
SY   EBS-DM.
SY   Epidermolysis bullosa herpetiformis, Dowling-Meara type.
SY   Epidermolysis bullosa simplex, Dowling-Meara type.
SY   Epidermolysis bullosa simplex, generalized severe.
DR   MIM; 131760; phenotype.
DR   MedGen; C0079295.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 1B, generalized intermediate.
AC   DI-00463
AR   EBS1B.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS1B is an autosomal dominant form
DE   characterized by generalized intraepidermal blistering beginning at
DE   birth. The tendency to blistering diminishes in adolescence, when it
DE   may become localized to hands and feet.
SY   EBS2.
SY   EBS generalized.
SY   Epidermolysis bullosa simplex, Koebner type.
SY   Epidermolysis bullosa simplex 2.
SY   K-EBS.
DR   MIM; 131900; phenotype.
DR   MedGen; C0079299.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 1C, localized.
AC   DI-00465
AR   EBS1C.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS1C is an autosomal dominant form
DE   with intraepidermal blistering mainly restricted to hands and feet
DE   beginning in infancy. Nails may be thick and dystrophic.
SY   EBS, acral form.
SY   Epidermolysis bullosa of hands and feet.
SY   Epidermolysis bullosa simplex, localized.
SY   Epidermolysis bullosa simplex, Weber-Cockayne type.
SY   WC-EBS.
DR   MIM; 131800; phenotype.
DR   MedGen; C0080333.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive.
AC   DI-00461
AR   EBS1D.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS1D is an autosomal recessive form
DE   characterized by blistering beginning at birth or early childhood. In
DE   some patients hands and feet are primarily affected, and in others
DE   blistering anywhere on the body may occur. In some patients the
DE   condition improves with age.
SY   EBSB1.
SY   Epidermolysis bullosa simplex, autosomal recessive 1.
DR   MIM; 601001; phenotype.
DR   MedGen; C1832926.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2A, generalized severe.
AC   DI-06251
AR   EBS2A.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2A is an autosomal dominant,
DE   severe form characterized by extensive intraepidermal blistering from
DE   the time of birth with herpetiform marginal spreading and central
DE   healing. Oral mucosal involvement, nail dystrophy, onychogryposis,
DE   formation of milia, and palmoplantar hyperkeratosis are common
DE   features.
SY   Epidermolysis bullosa simplex 2a, Dowling-Meara type.
DR   MIM; 619555; phenotype.
DR   MedGen; CN301077.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2B, generalized intermediate.
AC   DI-06252
AR   EBS2B.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2B is an autosomal dominant form
DE   characterized by generalized blistering manifesting at birth. The
DE   tendency to blistering diminishes in adolescence, when it may become
DE   localized to hands and feet.
SY   Epidermolysis bullosa simplex 2B, Koebner type.
DR   MIM; 619588; phenotype.
DR   MedGen; CN301100.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2C, localized.
AC   DI-06253
AR   EBS2C.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2C is an autosomal dominant form
DE   with intraepidermal blistering mainly restricted to hands and feet
DE   beginning in infancy. Nails may be thick and dystrophic.
SY   Epidermolysis bullosa simplex 2C, Weber-Cockayne type.
DR   MIM; 619594; phenotype.
DR   MedGen; CN301101.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive.
AC   DI-06254
AR   EBS2D.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2D is an autosomal recessive form
DE   characterized by widespread intraepidermal skin blistering and
DE   erosions from birth. Death may occur in the neonatal period.
DR   MIM; 619599; phenotype.
DR   MedGen; CN301099.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2E, with migratory circinate erythema.
AC   DI-00466
AR   EBS2E.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2E is an autosomal dominant form
DE   in which multiple vesicles are present from birth onward and acquire
DE   over time a typical migratory circinate pattern on an erythematous
DE   background. Postinflammatory hyperpigmentation develops gradually and
DE   may have a mottled pattern.
SY   Epidermolysis bullosa simplex, with migratory circinate erythema.
DR   MIM; 609352; phenotype.
DR   MedGen; C1836284.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 2F, with mottled pigmentation.
AC   DI-00467
AR   EBS2F.
DE   A form of epidermolysis bullosa simplex, a group of skin fragility
DE   disorders characterized by skin blistering due to cleavage within the
DE   basal layer of keratinocytes, and erosions caused by minor mechanical
DE   trauma. There is a broad spectrum of clinical severity ranging from
DE   minor blistering on the feet, to subtypes with extracutaneous
DE   involvement and a lethal outcome. EBS2F is an autosomal dominant form
DE   characterized by generalized skin blistering of intermediate severity
DE   beginning at birth, with mottled or reticulate pigmentation developing
DE   gradually. Focal keratoses of palms and soles and dystrophic,
DE   thickened nails develop over time.
SY   EBSMP.
SY   Epidermolysis bullosa simplex, with mottled pigmentation.
SY   Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.
DR   MIM; 131960; phenotype.
DR   MedGen; C0432316.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency.
AC   DI-03906
AR   EBS3.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS3 is an autosomal
DE   recessive disorder characterized by skin blistering mainly occurring
DE   on the feet and ankles. Ultrastructural analysis of skin biopsy shows
DE   abnormal hemidesmosomes with poorly formed inner plaques.
SY   EBSB2.
SY   Epidermolysis bullosa simplex, autosomal recessive 2.
DR   MIM; 615425; phenotype.
DR   MedGen; C3809470.
DR   MedGen; CN180173.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive.
AC   DI-03676
AR   EBS4.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS4 is an autosomal
DE   recessive disorder characterized by mild skin fragility with onset at
DE   birth or in early childhood, associated with acral blistering with
DE   hemorrhagic crusts. Skin fragility improves with age in most patients,
DE   although mottled pigmentation may later develop on the trunk and
DE   proximal limbs.
DR   MIM; 615028; phenotype.
DR   MedGen; C3554367.
DR   MedGen; CN164584.
DR   MeSH; D004820.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 5A, Ogna type.
AC   DI-00464
AR   EBS5A.
DE   An autosomal dominant form of epidermolysis bullosa, a genodermatosis
DE   characterized by recurrent blistering, fragility of the skin and
DE   mucosal epithelia, and erosions caused by minor mechanical trauma.
DE   EBS5A patients manifest generalized skin bruising, skin fragility with
DE   non-scarring blistering and small hemorrhagic blisters on hands. At
DE   the ultrastructural level, EBS5A is differentiated from classical
DE   epidermolysis bullosa simplex, by the occurrence of blisters
DE   originating in basal cells above hemidesmosomes, and abnormal
DE   hemidesmosome intracellular attachment plates.
SY   EBS1.
SY   EBSO.
SY   Epidermolysis bullosa simplex, Ogna type.
SY   Epidermolysis bullosa simplex 1.
SY   O-EBS.
DR   MIM; 131950; phenotype.
DR   MedGen; C0432317.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 5B, with muscular dystrophy.
AC   DI-00468
AR   EBS5B.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS5B is an autosomal
DE   recessive disorder characterized by progressive muscular dystrophy
DE   associated with generalized skin blistering.
SY   EBSMD.
SY   Epidermolysis bullosa simplex and limb-girdle muscular dystrophy.
SY   Epidermolysis bullosa simplex with muscular dystrophy.
SY   MD-EBS.
DR   MIM; 226670; phenotype.
DR   MedGen; C1856936.
DR   MedGen; C2931072.
DR   MeSH; D004820.
DR   MeSH; D049288.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 5C, with pyloric atresia.
AC   DI-01532
AR   EBS5C.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS5C is an autosomal
DE   recessive disorder characterized by severe skin blistering at birth
DE   and congenital pyloric atresia. Death usually occurs in infancy.
SY   Epidermolysis bullosa simplex with pyloric atresia.
DR   MIM; 612138; phenotype.
DR   MedGen; C2677349.
DR   MeSH; D004820.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive.
AC   DI-04492
AR   EBS5D.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS5D patients have
DE   generalized skin blistering that heals with scarring and
DE   hyperpigmentation, and severe nail dystrophy. Mucous membranes, heart,
DE   and muscle are spared.
SY   EBSND.
SY   Epidermolysis bullosa simplex with nail dystrophy.
DR   MIM; 616487; phenotype.
DR   MedGen; CN231724.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy.
AC   DI-04933
AR   EBS6.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS6 is an autosomal
DE   dominant disorder presenting at birth with extensive skin defects on
DE   the extremities, leaving behind hypopigmentation and atrophy with a
DE   whirled pattern. Cutaneous fragility and generalized blistering
DE   persist during childhood and decrease in adulthood. Adult patients
DE   have dyspigmentation and atrophy of the skin, scars, follicular
DE   atrophoderma, sparse body hair, progressive diffuse alopecia of the
DE   scalp, diffuse palmoplantar keratoderma, and nail changes.
SY   EBSSH.
SY   Epidermolysis bullosa simplex, generalized, with scarring and hair loss.
SY   Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, with or without cardiomyopathy.
DR   MIM; 617294; phenotype.
DR   MedGen; CN239946.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex 7, with nephropathy and deafness.
AC   DI-00808
AR   EBS7.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. EBS7 is an autosomal
DE   recessive disorder characterized by the association of skin
DE   blistering, hereditary nephritis, sensorineural deafness, and beta-
DE   thalassemia minor. Skin blistering is present at birth, particularly
DE   in the tibial area but also scattered on other parts of the body.
SY   Nephropathy with pretibial epidermolysis bullosa and deafness.
SY   NPEBD.
DR   MIM; 609057; phenotype.
DR   MedGen; C1836823.
DR   MeSH; D003638.
DR   MeSH; D007674.
DR   MeSH; D016108.
KW   KW-0209:Deafness.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 1A, intermediate.
AC   DI-00502
AR   JEB1A.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. Junctional epidermolysis
DE   bullosa is characterized by blistering that occurs at the level of the
DE   lamina lucida in the skin basement membrane. JEB1A is an autosomal
DE   recessive, non-lethal, adult form characterized by life-long
DE   blistering of the skin, associated with hair and tooth abnormalities.
SY   Epidermolysis bullosa atrophicans generalisata mitis.
SY   Epidermolysis bullosa junctionalis Disentis type.
SY   Epidermolysis bullosa junctionalis progressive.
SY   Epidermolysis bullosa junctionalis severe non-lethal.
SY   GABEB.
SY   Generalized atrophic benign epidermolysis bullosa.
SY   Generalized junctional epidermolysis bullosa mitis.
SY   Non-Herlitz junctional epidermolysis bullosa.
DR   MIM; 226650; phenotype.
DR   MedGen; C0079297.
DR   MedGen; C0079301.
DR   MedGen; C0268374.
DR   MedGen; C2608084.
DR   MedGen; C2673609.
DR   MedGen; C2673610.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 1B, severe.
AC   DI-00457
AR   JEB1B.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. Junctional epidermolysis
DE   bullosa is characterized by blistering that occurs at the level of the
DE   lamina lucida in the skin basement membrane. JEB1B is an autosomal
DE   recessive, severe form characterized by bullous lesions appearing at
DE   birth, and extensive denudation of skin and mucous membranes that may
DE   be hemorrhagic. Death occurs usually within the first six months of
DE   life. Occasionally, children survive to teens.
SY   Epidermolysis bullosa, junctional, Herlitz type.
SY   Epidermolysis letalis.
SY   Junctional epidermolysis bullosa gravis.
SY   Junctional epidermolysis bullosa Herlitz-Pearson type.
DR   MIM; 226700; phenotype.
DR   MedGen; C0079683.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 2A, intermediate.
AC   DI-06337
AR   JEB2A.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB2A is an autosomal
DE   recessive, intermediate form in which blistering lesions occur between
DE   the epidermis and the dermis at the lamina lucida level of the
DE   basement membrane zone. In intermediate forms of junctional
DE   epidermolysis bullosa, blistering does not lead to the formation of
DE   chronic granulation tissue and does not affect the lifespan of
DE   affected individuals. Nail dystrophy and dental enamel defects are
DE   present. Scarring or non-scarring alopecia and diffuse hair loss may
DE   occur.
SY   Epidermolysis bullosa, junctional 2A, generalized intermediate.
SY   Epidermolysis bullosa, junctional 2A, non-Herlitz type.
DR   MIM; 619783; phenotype.
DR   MedGen; CN307699.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 2B, severe.
AC   DI-06338
AR   JEB2B.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB2B is an autosomal
DE   recessive form in which blistering lesions occur between the epidermis
DE   and the dermis at the lamina lucida level of the basement membrane
DE   zone. It belongs to the severe spectrum of junctional epidermolysis
DE   bullosa (previously known as generalized severe or Herlitz type),
DE   characterized by onset of blistering over large regions of the body at
DE   birth or in early infancy. Blistering also affects the mucous
DE   membranes, such as the moist lining of the mouth and digestive tract,
DE   which can make it difficult to eat and digest food. The extensive
DE   blistering leads to scarring and the formation of red, bumpy patches
DE   called granulation tissue. Other complications can include fusion of
DE   the fingers and toes, abnormalities of the fingernails and toenails,
DE   joint deformities, dental enamel defects, and alopecia. Severe,
DE   junctional forms are associated with death in the first 6 to 24 months
DE   of life.
SY   Epidermolysis bullosa, junctional 2B, generalized severe.
SY   Epidermolysis bullosa, junctional 2B, Herlitz type.
DR   MIM; 619784; phenotype.
DR   MedGen; CN307700.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous.
AC   DI-01879
AR   JEB2C.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB2C is an autosomal
DE   recessive, severe form in which blistering lesions occur between the
DE   epidermis and the dermis at the lamina lucida level of the basement
DE   membrane zone. JEB2C manifestations appear in early infancy and
DE   include hoarse cry, skin ulceration, nail dystrophy with recurrent
DE   loss of toenails and fingernails, and conjunctival scarring. Some
DE   patients have amelogenesis imperfecta. Death in childhood is common.
SY   Laryngoonychocutaneous syndrome.
SY   LOCS.
SY   LOGIC syndrome.
DR   MIM; 245660; phenotype.
DR   MedGen; C1328355.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 3A, intermediate.
AC   DI-06340
AR   JEB3A.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB3A is an autosomal
DE   recessive, intermediate form in which blistering lesions occur between
DE   the epidermis and the dermis at the lamina lucida level of the
DE   basement membrane zone. In intermediate forms of junctional
DE   epidermolysis bullosa, blistering does not lead to the formation of
DE   chronic granulation tissue and does not affect the lifespan of
DE   affected individuals. Nail dystrophy and dental enamel defects are
DE   present. Scarring or non-scarring alopecia and diffuse hair loss may
DE   occur.
SY   Epidermolysis bullosa, junctional 3A, generalized intermediate.
SY   Epidermolysis bullosa, junctional 3A, non-Herlitz type.
DR   MIM; 619785; phenotype.
DR   MedGen; CN307701.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 3B, severe.
AC   DI-06339
AR   JEB3B.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB3B is an autosomal
DE   recessive form in which blistering lesions occur between the epidermis
DE   and the dermis at the lamina lucida level of the basement membrane
DE   zone. It belongs to the severe spectrum of junctional epidermolysis
DE   bullosa (previously known as generalized severe or Herlitz type),
DE   characterized by onset of blistering over large regions of the body at
DE   birth or in early infancy. Blistering also affects the mucous
DE   membranes, such as the moist lining of the mouth and digestive tract,
DE   which can make it difficult to eat and digest food. The extensive
DE   blistering leads to scarring and the formation of red, bumpy patches
DE   called granulation tissue. Other complications can include fusion of
DE   the fingers and toes, abnormalities of the fingernails and toenails,
DE   joint deformities, dental enamel defects, and alopecia. Severe,
DE   junctional forms are associated with death in the first 6 to 24 months
DE   of life.
SY   Epidermolysis bullosa, junctional 3B, generalized severe.
SY   Epidermolysis bullosa, junctional 3B, Herlitz type.
DR   MIM; 619786; phenotype.
DR   MedGen; CN307702.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 4, intermediate.
AC   DI-06341
AR   JEB4.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB4 is an autosomal
DE   recessive, intermediate form in which blistering lesions occur between
DE   the epidermis and the dermis at the lamina lucida level of the
DE   basement membrane zone. In intermediate forms of junctional
DE   epidermolysis bullosa, blistering does not lead to the formation of
DE   chronic granulation tissue and does not affect the lifespan of
DE   affected individuals. Nail dystrophy and dental enamel defects are
DE   present. Scarring or non-scarring alopecia and diffuse hair loss may
DE   occur. JEB4 patients manifest blisters at birth or shortly afterward.
DE   Blisters may heal with atrophic scarring and variable hypo- or
DE   hyperpigmentation. Oral mucosa may be involved.
SY   Epidermolysis bullosa, generalized atrophic benign.
SY   Epidermolysis bullosa, junctional, localisata variant.
SY   Epidermolysis bullosa, junctional 4, non-Herlitz type.
SY   GABEB.
DR   MIM; 619787; phenotype.
DR   MedGen; CN307703.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 5A, intermediate.
AC   DI-06342
AR   JEB5A.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB5A is an autosomal
DE   recessive, intermediate form in which blistering lesions occur between
DE   the epidermis and the dermis at the lamina lucida level of the
DE   basement membrane zone. In intermediate forms of junctional
DE   epidermolysis bullosa, blistering does not lead to the formation of
DE   chronic granulation tissue and does not affect the lifespan of
DE   affected individuals. Nail dystrophy and dental enamel defects are
DE   present. Scarring or non-scarring alopecia and diffuse hair loss may
DE   occur.
SY   Epidermolysis bullosa, junctional 5A, generalized intermediate.
SY   Epidermolysis bullosa, junctional 5A, non-Herlitz type.
DR   MIM; 619816; phenotype.
DR   MedGen; CN307704.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 5B, with pyloric atresia.
AC   DI-00458
AR   JEB5B.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. Junctional epidermolysis
DE   bullosa is characterized by blistering that occurs at the level of the
DE   lamina lucida in the skin basement membrane. JEB5B is an autosomal
DE   recessive, severe, frequently lethal form with variable involvement of
DE   skin, nails, mucosa, and with variable effects on the digestive
DE   system. It is characterized by mucocutaneous fragility, aplasia cutis
DE   congenita, and gastrointestinal atresia, which most commonly affects
DE   the pylorus. Pyloric atresia is a primary manifestation rather than a
DE   scarring process secondary to epidermolysis bullosa.
SY   Aplasia cutis congenita with gastrointestinal atresia.
SY   Carmi syndrome.
SY   Epidermolysis bullosa letalis, with pyloric atresia.
SY   Junctional epidermolysis bullosa with pyloric atresia.
SY   PA-JEB.
DR   MIM; 226730; phenotype.
DR   MedGen; C1856934.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 6, with pyloric atresia.
AC   DI-06343
AR   JEB6.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB6 is an autosomal
DE   recessive form in which blistering lesions occur between the epidermis
DE   and the dermis at the lamina lucida level of the basement membrane
DE   zone. Clinical manifestations include severe blistering, atrophic
DE   scarring, nail dystrophy, and pyloric atresia. Congenital absence of
DE   skin (aplasia cutis congenita) is common, and ear anomalies are also
DE   relatively common. Disease course is usually severe and often lethal
DE   in the neonatal period.
DR   MIM; 619817; phenotype.
DR   MedGen; CN307705.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.
AC   DI-03509
AR   JEB7.
DE   A form of epidermolysis bullosa, a genodermatosis characterized by
DE   recurrent blistering, fragility of the skin and mucosal epithelia, and
DE   erosions caused by minor mechanical trauma. JEB7 is an autosomal
DE   recessive form associated with congenital nephrotic syndrome and
DE   interstitial lung disease. The respiratory and renal features
DE   predominate, and lung involvement accounts for the lethal course of
DE   the disease.
SY   ILNEB.
SY   Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.
DR   MIM; 614748; phenotype.
DR   MedGen; C4518785.
DR   MeSH; D004820.
DR   MeSH; D009404.
DR   MeSH; D017563.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, lethal acantholytic.
AC   DI-00459
AR   EBLA.
DE   A form of epidermolysis bullosa characterized by severe fragility of
DE   skin and mucous membranes. The phenotype is lethal in the neonatal
DE   period because of immense transcutaneous fluid loss. Typical features
DE   include universal alopecia, neonatal teeth, and nail loss.
DE   Histopathology of the skin shows suprabasal clefting and acantholysis
DE   throughout the spinous layer, mimicking pemphigus.
SY   LAEB.
SY   Lethal acantholytic epidermolysis bullosa.
DR   MIM; 609638; phenotype.
DR   MedGen; C1864826.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolytic hyperkeratosis 1.
AC   DI-00207
AR   EHK1.
DE   A skin disorder characterized by widespread blistering and an
DE   ichthyotic erythroderma at birth that persist into adulthood.
DE   Histologically there is a diffuse epidermolytic degeneration in the
DE   lower spinous layer of the epidermis. Within a few weeks from birth,
DE   erythroderma and blister formation diminish and hyperkeratoses
DE   develop. EHK1 inheritance is autosomal dominant or autosomal
DE   recessive.
SY   BCIE.
SY   BIE.
SY   Bullous congenital ichthyosiform erythroderma.
SY   Bullous erythroderma ichthyosiformis congenita of Brocq.
SY   Bullous ichthyosiform erythroderma.
SY   Epidermolytic hyperkeratosis late-onset.
DR   MIM; 113800; phenotype.
DR   MedGen; C0079153.
DR   MedGen; C1862005.
DR   MeSH; D017488.
KW   KW-0977:Ichthyosis.
//
ID   Epidermolytic hyperkeratosis 2.
AC   DI-06671
AR   EHK2.
DE   A form of epidermolytic hyperkeratosis, a skin disorder characterized
DE   by widespread blistering and an ichthyotic erythroderma at birth that
DE   persist into adulthood. Histologically there is a diffuse
DE   epidermolytic degeneration in the lower spinous layer of the
DE   epidermis. Within a few weeks from birth, erythroderma and blister
DE   formation diminish and hyperkeratoses develop. EHK2 inheritance is
DE   autosomal dominant or autosomal recessive.
DR   MIM; 620150; phenotype.
DR   MedGen; CN327122.
DR   MeSH; D017488.
KW   KW-0977:Ichthyosis.
//
ID   Epilepsy, childhood absence 2.
AC   DI-00297
AR   ECA2.
DE   A subtype of idiopathic generalized epilepsy characterized by an onset
DE   at age 6-7 years, frequent absence seizures (several per day) and
DE   bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE   clonic seizures often develop in adolescence. Some individuals
DE   manifest febrile seizures. Absence seizures may either remit or
DE   persist into adulthood.
DR   MIM; 607681; phenotype.
DR   MedGen; C1843244.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, childhood absence 4.
AC   DI-00299
AR   ECA4.
DE   A subtype of idiopathic generalized epilepsy characterized by an onset
DE   at age 6-7 years, frequent absence seizures (several per day) and
DE   bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE   clonic seizures often develop in adolescence. Absence seizures may
DE   either remit or persist into adulthood.
DR   MIM; 611136; phenotype.
DR   MedGen; C1970160.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, childhood absence 5.
AC   DI-00300
AR   ECA5.
DE   A subtype of idiopathic generalized epilepsy characterized by an onset
DE   at age 6-7 years, frequent absence seizures (several per day) and
DE   bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE   clonic seizures often develop in adolescence. Absence seizures may
DE   either remit or persist into adulthood.
DR   MIM; 612269; phenotype.
DR   MedGen; C2677087.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, childhood absence 6.
AC   DI-03307
AR   ECA6.
DE   A subtype of idiopathic generalized epilepsy characterized by an onset
DE   at age 6-7 years, frequent absence seizures (several per day) and
DE   bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-
DE   clonic seizures often develop in adolescence. Absence seizures may
DE   either remit or persist into adulthood.
DR   MIM; 611942; phenotype.
DR   MedGen; C2749872.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, early-onset, 1, vitamin B6-dependent.
AC   DI-04934
AR   EPEO1.
DE   An autosomal recessive neurologic disorder characterized by seizures
DE   responsive to treatment with activated vitamin B6 and/or pyridoxine.
DE   Most patients show delayed psychomotor development, intellectual
DE   disability and learning disability. Seizures onset is in the first
DE   days or months of life.
SY   Epilepsy, early-onset, vitamin B6-dependent.
SY   EPVB6D.
DR   MIM; 617290; phenotype.
DR   MedGen; CN239943.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, early-onset, 2, with or without developmental delay.
AC   DI-05807
AR   EPEO2.
DE   An autosomal dominant neurologic disorder characterized by early onset
DE   of generalized tonic-clonic seizures associated with sharp wave and
DE   sharp slow wave discharges on EEG. Some EPEO2 patients have normal
DE   psychomotor development and normal brain imaging, whereas others may
DE   show developmental delay associated with abnormalities on brain
DE   imaging.
DR   MIM; 618832; phenotype.
DR   MedGen; CN272918.
DR   MeSH; D004830.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, early-onset, 3, with or without developmental delay.
AC   DI-06741
AR   EPEO3.
DE   An autosomal dominant neurologic disorder characterized by various
DE   types of seizures with onset in the first months or years of life.
DE   Many patients present with febrile seizures and later develop afebrile
DE   seizures. Some affected individuals have global developmental delay or
DE   regression, impaired intellectual development, poor or absent speech,
DE   and motor delay. Additional variable features include hypotonia, gait
DE   ataxia, behavioral abnormalities, and anomalies on brain imaging.
DR   MIM; 620465; phenotype.
DR   MedGen; CN372699.
DR   MeSH; D004830.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, early-onset, 4, vitamin B6-dependent.
AC   DI-02236
AR   EPEO4.
DE   An autosomal recessive neurologic disorder ocharacterized by a
DE   combination of various seizure types. It usually occurs in the first
DE   hours of life and is unresponsive to standard anticonvulsants,
DE   responding only to immediate administration of pyridoxine
DE   hydrochloride.
SY   PDE.
SY   Pyridoxine-dependent epilepsy.
DR   MIM; 266100; phenotype.
DR   MedGen; C1849508.
DR   MeSH; D012640.
//
ID   Epilepsy, familial adult myoclonic, 1.
AC   DI-05296
AR   FAME1.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME1 inheritance is
DE   autosomal dominant.
SY   BAFME1.
SY   Benign adult familial myoclonic epilepsy 1.
SY   Cortical myoclonic tremor with epilepsy, familial, 1.
SY   FCMTE1.
DR   MIM; 601068; phenotype.
DR   MedGen; C1832841.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 2.
AC   DI-04469
AR   FAME2.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME2 inheritance is
DE   autosomal dominant.
SY   ADCME.
SY   BAFME2.
SY   Benign adult familial myoclonic epilepsy 2.
SY   Cortical myoclonic tremor with epilepsy, familial, 2.
SY   Cortical myoclonus and epilepsy, autosomal dominant.
SY   FCMTE2.
DR   MIM; 607876; phenotype.
DR   MedGen; C1842852.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 3.
AC   DI-05690
AR   FAME3.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME3 inheritance is
DE   autosomal dominant.
SY   Cortical myoclonic tremor with epilepsy, familial, 3.
SY   FCMTE3.
DR   MIM; 613608; phenotype.
DR   MedGen; C3150860.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 4.
AC   DI-05691
AR   FAME4.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME4 inheritance is
DE   autosomal dominant.
SY   Cortical myoclonic tremor with epilepsy, familial, 4.
SY   FCMTE4.
DR   MIM; 615127; phenotype.
DR   MedGen; C3554560.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 5.
AC   DI-03870
AR   FAME5.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME5 is characterized by
DE   onset of seizures in adolescence, followed by the development of
DE   cortical myoclonic tremor later in life. Inheritance is autosomal
DE   recessive.
SY   Cortical myoclonic tremor with epilepsy, familial, 5.
SY   Familial cortical myoclonic tremor with epilepsy 5.
SY   FCMTE5.
DR   MIM; 615400; phenotype.
DR   MedGen; C3809374.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 6.
AC   DI-05297
AR   FAME6.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME6 inheritance is
DE   autosomal dominant.
SY   BAFME6.
SY   Benign adult familial myoclonic epilepsy 6.
SY   Cortical myoclonic tremor with epilepsy, familial, 6.
SY   FCMTE6.
DR   MIM; 618074; phenotype.
DR   MedGen; CN252655.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 7.
AC   DI-05298
AR   FAME7.
DE   A form of familial myoclonic epilepsy, a neurologic disorder
DE   characterized by cortical hand tremors, myoclonic jerks and occasional
DE   generalized or focal seizures with a non-progressive or very slowly
DE   progressive disease course. Usually, myoclonic tremor is the
DE   presenting symptom, characterized by tremulous finger movements and
DE   myoclonic jerks of the limbs increased by action and posture. In a
DE   minority of patients, seizures are the presenting symptom. Some
DE   patients exhibit mild cognitive impairment. FAME7 inheritance is
DE   autosomal dominant.
SY   BAFME7.
SY   Benign adult familial myoclonic epilepsy 27.
SY   Cortical myoclonic tremor with epilepsy, familial, 7.
SY   FCMTE7.
DR   MIM; 618075; phenotype.
DR   MedGen; CN252654.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial focal, with variable foci 1.
AC   DI-03794
AR   FFEVF1.
DE   An autosomal dominant form of epilepsy characterized by focal seizures
DE   arising from different cortical regions in different family members.
DE   Many patients have an aura and show automatisms during the seizures,
DE   whereas others may have nocturnal seizures. There is often secondary
DE   generalization. Some patients show abnormal interictal EEG, and some
DE   patients may have intellectual disability or autism spectrum
DE   disorders. Seizure onset usually occurs in the first or second
DE   decades, although later onset has been reported, and there is
DE   phenotypic variability within families. Penetrance of the disorder is
DE   incomplete.
SY   FFEVF.
SY   FPEVF.
SY   Partial epilepsy with variable foci.
DR   MIM; 604364; phenotype.
DR   MedGen; C1858477.
DR   MeSH; D004828.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial focal, with variable foci 2.
AC   DI-04832
AR   FFEVF2.
DE   An autosomal dominant form of epilepsy characterized by focal seizures
DE   arising from different cortical regions, including the temporal,
DE   frontal, parietal, and occipital lobes. Seizure types commonly include
DE   temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE   lobe epilepsy. Some patients may have intellectual disability or
DE   autism spectrum disorders. Seizure onset usually occurs in the first
DE   or second decades, although later onset has been reported, and there
DE   is phenotypic variability within families. A subset of patients have
DE   structural brain abnormalities. Penetrance of the disorder is
DE   incomplete.
DR   MIM; 617116; phenotype.
DR   MedGen; CN238508.
DR   MeSH; D004828.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial focal, with variable foci 3.
AC   DI-04831
AR   FFEVF3.
DE   An autosomal dominant form of epilepsy characterized by focal seizures
DE   arising from different cortical regions, including the temporal,
DE   frontal, parietal, and occipital lobes. Seizure types commonly include
DE   temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE   lobe epilepsy. Some patients may have intellectual disability or
DE   autism spectrum disorders. Seizure onset usually occurs in the first
DE   or second decades, although later onset has been reported, and there
DE   is phenotypic variability within families. A subset of patients have
DE   structural brain abnormalities. Penetrance of the disorder is
DE   incomplete.
DR   MIM; 617118; phenotype.
DR   MedGen; CN238509.
DR   MeSH; D004828.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial focal, with variable foci 4.
AC   DI-05229
AR   FFEVF4.
DE   An autosomal dominant form of epilepsy characterized by focal seizures
DE   arising from different cortical regions, including the temporal,
DE   frontal, parietal, and occipital lobes. Seizure types commonly include
DE   temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal
DE   lobe epilepsy. Some patients may have intellectual disability or
DE   autism spectrum disorders. Seizure onset usually occurs in the first
DE   or second decades, although later onset has been reported, and there
DE   is phenotypic variability within families. A subset of patients have
DE   structural brain abnormalities. Penetrance of the disorder is
DE   incomplete. FFEVF4 is characterized by onset of focal seizures in the
DE   first years of life.
DR   MIM; 617935; phenotype.
DR   MedGen; CN244552.
DR   MeSH; D004828.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial temporal lobe, 1.
AC   DI-00628
AR   ETL1.
DE   A focal form of epilepsy characterized by recurrent seizures that
DE   arise from foci within the temporal lobe. Seizures are usually
DE   accompanied by sensory symptoms, most often auditory in nature.
SY   ADLTE.
SY   ADPEAF.
SY   Lateral temporal lobe epilepsy autosomal dominant.
SY   Partial epilepsy with auditory features.
DR   MIM; 600512; phenotype.
DR   MedGen; C1838062.
DR   MeSH; D004833.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial temporal lobe, 5.
AC   DI-03336
AR   ETL5.
DE   A focal form of epilepsy characterized by recurrent seizures that
DE   arise from foci within the temporal lobe. Seizures are usually
DE   accompanied by sensory symptoms, most often auditory in nature.
DR   MIM; 614417; phenotype.
DR   MedGen; C3280730.
DR   MeSH; D004833.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial temporal lobe, 7.
AC   DI-04463
AR   ETL7.
DE   A focal form of epilepsy characterized by recurrent seizures that
DE   arise from foci within the temporal lobe. Seizures are usually
DE   accompanied by sensory symptoms, most often auditory in nature.
DR   MIM; 616436; phenotype.
DR   MedGen; CN231326.
DR   MeSH; D004833.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial temporal lobe, 8.
AC   DI-04482
AR   ETL8.
DE   A focal form of epilepsy characterized by recurrent seizures that
DE   arise from foci within the temporal lobe. Seizures are usually
DE   accompanied by sensory symptoms, most often auditory in nature.
DR   MIM; 616461; phenotype.
DR   MedGen; CN231450.
DR   MeSH; D004833.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, focal, with speech disorder and with or without impaired intellectual development.
AC   DI-03169
AR   FESD.
DE   An autosomal dominant, highly variable neurologic disorder. Features
DE   range from severe early-onset seizures associated with delayed
DE   psychomotor development, persistent speech difficulties, and
DE   intellectual disability to a more benign entity characterized by
DE   childhood onset of mild or asymptomatic seizures associated with
DE   transient speech difficulties followed by remission of seizures in
DE   adolescence and normal psychomotor development. The disorder
DE   encompasses several clinical entities, including Landau-Kleffner
DE   syndrome, epileptic encephalopathy with continuous spike and wave
DE   during slow-wave sleep, autosomal dominant rolandic epilepsy,
DE   intellectual disability and speech dyspraxia, and benign epilepsy with
DE   centrotemporal spikes.
SY   Acquired aphasia with epilepsy.
SY   ADRESD.
SY   BECTS.
SY   Benign epilepsy of childhood with centrotemporal spikes.
SY   Continuous spike and waves during slow-wave sleep syndrome.
SY   CSWS.
SY   CSWSS.
SY   Landau-Kleffner syndrome.
SY   LKS.
SY   RESDAD.
DR   MIM; 245570; phenotype.
DR   MedGen; C0282512.
DR   MeSH; D001037.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 10.
AC   DI-02485
AR   EIG10.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain.
SY   EIG10.
SY   Susceptibility to idiopathic generalized epilepsy 10.
DR   MIM; 613060; phenotype.
DR   MedGen; C2751603.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 11.
AC   DI-00469
AR   EIG11.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain.
SY   Susceptibility to idiopathic generalized epilepsy 11.
DR   MIM; 607628; phenotype.
DR   MedGen; C2750893.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 12.
AC   DI-03549
AR   EIG12.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures. In
DE   some EIG12 patients seizures may remit with age.
SY   Susceptibility to idiopathic generalized epilepsy 12.
DR   MIM; 614847; phenotype.
DR   MedGen; C3553859.
DR   MedGen; CN158708.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 13.
AC   DI-04084
AR   EIG13.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures.
DR   MIM; 611136; phenotype.
DR   MedGen; C2749942.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 14.
AC   DI-04596
AR   EIG14.
DE   An autosomal dominant form of idiopathic generalized epilepsy, a
DE   disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures.
DR   MIM; 616685; phenotype.
DR   MedGen; CN234615.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 15.
AC   DI-05509
AR   EIG15.
DE   An autosomal dominant form of idiopathic generalized epilepsy, a
DE   disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures.
DE   EIG15 is characterized by onset of variable types of seizures in the
DE   first decade of life.
DR   MIM; 618357; phenotype.
DR   MedGen; CN258247.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 16.
AC   DI-05665
AR   EIG16.
DE   An autosomal dominant form of idiopathic generalized epilepsy, a
DE   disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures.
DE   EIG16 is characterized by onset of seizures soon after birth or in the
DE   first years of life.
DR   MIM; 618596; phenotype.
DR   MedGen; CN262334.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 17.
AC   DI-06235
AR   EIG17.
DE   A form of idiopathic generalized epilepsy, a disorder characterized by
DE   recurring generalized seizures in the absence of detectable brain
DE   lesions and/or metabolic abnormalities. Generalized seizures arise
DE   diffusely and simultaneously from both hemispheres of the brain.
DE   Seizure types include juvenile myoclonic seizures, absence seizures,
DE   and generalized tonic-clonic seizures. Both autosomal dominant and
DE   autosomal recessive EIG17 inheritance have been reported.
DR   MIM; 602477; phenotype.
DR   MedGen; C1865342.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 18.
AC   DI-06223
AR   EIG18.
DE   An autosomal dominant form of idiopathic generalized epilepsy, a
DE   disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain. Seizure types include juvenile myoclonic
DE   seizures, absence seizures, and generalized tonic-clonic seizures.
DE   EIG18 is characterized by onset of myoclonic seizures in infancy.
DE   Although the seizures remit, some patients may have later speech or
DE   cognitive impairment.
DR   MIM; 619521; phenotype.
DR   MedGen; CN300443.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 6.
AC   DI-00594
AR   EIG6.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain.
SY   Susceptibility to idiopathic generalized epilepsy 6.
DR   MIM; 611942; phenotype.
DR   MedGen; C2677793.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 8.
AC   DI-02484
AR   EIG8.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Seizure types are variable, but include myoclonic seizures, absence
DE   seizures, febrile seizures, complex partial seizures, and generalized
DE   tonic-clonic seizures.
SY   Susceptibility to idiopathic generalized epilepsy 8.
DR   MIM; 612899; phenotype.
DR   MedGen; C2752062.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, idiopathic generalized 9.
AC   DI-00593
AR   EIG9.
DE   A disorder characterized by recurring generalized seizures in the
DE   absence of detectable brain lesions and/or metabolic abnormalities.
DE   Generalized seizures arise diffusely and simultaneously from both
DE   hemispheres of the brain.
SY   Susceptibility to idiopathic generalized epilepsy 9.
DR   MIM; 607682; phenotype.
DR   MedGen; C2750887.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, nocturnal frontal lobe, 1.
AC   DI-00819
AR   ENFL1.
DE   An autosomal dominant focal epilepsy characterized by nocturnal
DE   seizures with hyperkinetic automatisms and poorly organized
DE   stereotyped movements.
SY   ADNFLE.
SY   Autosomal dominant nocturnal frontal lobe epilepsy.
DR   MIM; 600513; phenotype.
DR   MedGen; C1838049.
DR   MeSH; D017034.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, nocturnal frontal lobe, 3.
AC   DI-00820
AR   ENFL3.
DE   An autosomal dominant focal epilepsy characterized by nocturnal
DE   seizures with hyperkinetic automatisms and poorly organized
DE   stereotyped movements.
DR   MIM; 605375; phenotype.
DR   MedGen; C1854335.
DR   MeSH; D017034.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, nocturnal frontal lobe, 4.
AC   DI-00821
AR   ENFL4.
DE   An autosomal dominant focal epilepsy characterized by nocturnal
DE   seizures associated with fear sensation, tongue movements, and
DE   nocturnal wandering, closely resembling nightmares and sleep walking.
SY   Familial epilepsy with nocturnal wandering and ictal fear.
DR   MIM; 610353; phenotype.
DR   MedGen; C1835905.
DR   MeSH; D017034.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, nocturnal frontal lobe, 5.
AC   DI-03663
AR   ENFL5.
DE   An autosomal dominant focal epilepsy syndrome characterized by
DE   childhood onset of clusters of motor seizures during sleep. Some
DE   patients may develop behavioral or psychiatric manifestations and/or
DE   intellectual disability. The phenotype is more severe than observed in
DE   other genetic forms of nocturnal frontal lobe epilepsy.
DR   MIM; 615005; phenotype.
DR   MedGen; C3554306.
DR   MedGen; CN164258.
DR   MeSH; D017034.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 1.
AC   DI-00952
AR   EPM1.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM1 is
DE   an autosomal recessive form characterized by severe, stimulus-
DE   sensitive myoclonus and tonic-clonic seizures. The onset, occurring
DE   between 6 and 13 years of age, is characterized by convulsions.
DE   Myoclonus begins 1 to 5 years later. The twitchings occur
DE   predominantly in the proximal muscles of the extremities and are
DE   bilaterally symmetrical, although asynchronous. At first small, they
DE   become late in the clinical course so violent that the victim is
DE   thrown to the floor. Mental deterioration and eventually dementia
DE   develop.
SY   Baltic myoclonic epilepsy.
SY   EPM1A.
SY   Myoclonic epilepsy of Unverricht and Lundborg.
SY   Progressive myoclonic epilepsy 1.
SY   Progressive myoclonic epilepsy 1A.
SY   Progressive myoclonic epilepsy Unverricht-Lundborg type.
SY   ULD.
DR   MIM; 254800; phenotype.
DR   MedGen; C0751785.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 10.
AC   DI-04581
AR   EPM10.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM10 is
DE   an autosomal recessive form characterized by progressive dysarthria,
DE   myoclonus, ataxia, cognitive decline, psychosis, dementia and
DE   spasticity, with onset in childhood. There is variability between
DE   patients.
SY   Early-onset Lafora body disease.
DR   MIM; 616640; phenotype.
DR   MedGen; CN233224.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 11.
AC   DI-05834
AR   EPM11.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM11 is
DE   an autosomal dominant form. Clinical features include normal or mildly
DE   delayed early development, developmental regression after seizures
DE   onset, inability to walk, severely impaired intellectual development,
DE   poor or absent speech, spasticity, ataxia, and intention tremor. Brain
DE   imaging shows cerebellar atrophy in some patients.
DR   MIM; 618876; phenotype.
DR   MedGen; CN280919.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 12.
AC   DI-06052
AR   EPM12.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM12 is
DE   an autosomal recessive form characterized by onset of tonic-clonic
DE   seizures and/or myoclonus in the second decade of life. Affected
DE   individuals develop cerebellar ataxia associated with progressive
DE   cerebral and cerebellar atrophy on brain imaging. Most patients lose
DE   ambulation and become wheelchair-bound. Additional more variable
DE   features include mild cognitive dysfunction or psychiatric
DE   manifestations, such as depression or anxiety.
DR   MIM; 619191; phenotype.
DR   MedGen; CN295304.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 1B.
AC   DI-00953
AR   EPM1B.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM1B is
DE   an autosomal recessive form characterized by myoclonus that progressed
DE   in severity over time, tonic-clonic seizures and ataxia.
DR   MIM; 612437; phenotype.
DR   MedGen; C2676254.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 2.
AC   DI-00954
AR   EPM2.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM2 is
DE   an autosomal recessive and severe form of adolescent-onset progressive
DE   epilepsy. Typically, as seizures increase in frequency, cognitive
DE   function declines towards dementia, and affected individuals die
DE   usually within 10 years after onset. EPM2 occurs worldwide, but it is
DE   particularly common in the mediterranean countries of southern Europe
DE   and northern Africa, in southern India and in the Middle East. At the
DE   cellular level, it is characterized by accumulation of starch-like
DE   polyglucosans called Lafora bodies (LBs) that are most abundant in
DE   organs with the highest glucose metabolism: brain, heart, liver and
DE   skeletal muscle. Among other conditions involving polyglucosans, EPM2
DE   is unique in that the inclusions are in neuronal dendrites but not
DE   axons and the forming polyglucosan fibrils are associated with the
DE   endoplasmic reticulum.
SY   EPM2A.
SY   EPM2B.
SY   Lafora's disease.
SY   Lafora disease.
SY   LD.
SY   MELF.
SY   Myoclonic epilepsy of Lafora.
SY   Progressive myoclonic epilepsy 2.
SY   Progressive myoclonic epilepsy 2A.
SY   Progressive myoclonic epilepsy 2B.
SY   Progressive myoclonic epilepsy Lafora type.
DR   MIM; 254780; phenotype.
DR   MedGen; C0751783.
DR   MedGen; C1850764.
DR   MeSH; D020192.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.
AC   DI-00955
AR   EPM3.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM3 is
DE   an autosomal recessive, severe, form with early onset. Multifocal
DE   myoclonic seizures begin between 16 and 24 months of age after normal
DE   initial development. Neurodegeneration and regression occur with
DE   seizure onset. Other features include intellectual disability,
DE   dysarthria, truncal ataxia, and loss of fine finger movements. EEG
DE   shows slow dysrhythmia, multifocal and occasionally generalized
DE   epileptiform discharges. In some patients, ultrastructural findings on
DE   skin biopsies identify intracellular accumulation of autofluorescent
DE   lipopigment storage material, consistent with neuronal ceroid
DE   lipofuscinosis.
SY   CLN14.
SY   Neuronal ceroid lipofuscinosis 14.
SY   Progressive myoclonic epilepsy 3.
DR   MIM; 611726; phenotype.
DR   MedGen; C2673257.
DR   MeSH; D009472.
DR   MeSH; D020191.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 4, with or without renal failure.
AC   DI-01169
AR   EPM4.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM4 is
DE   an autosomal recessive form associated with renal failure in some
DE   cases. Cognitive function is preserved.
SY   Action myoclonus-renal failure syndrome.
SY   AMRF.
SY   Myoclonus-nephropathy syndrome.
DR   MIM; 254900; phenotype.
DR   MedGen; C0751779.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 6.
AC   DI-03161
AR   EPM6.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM6 is
DE   an autosomal recessive form characterized by onset of ataxia in the
DE   first years of life, followed by action myoclonus and seizures later
DE   in childhood, and loss of independent ambulation in the second decade.
DE   Cognition is not usually affected, although mild memory difficulties
DE   may occur in the third decade.
DR   MIM; 614018; phenotype.
DR   MedGen; C3279627.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 7.
AC   DI-04310
AR   EPM7.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM7 is
DE   an autosomal dominant form characterized by myoclonic epilepsy
DE   apparent in the first or second decades of life. Cognitive function
DE   may decline in some patients.
DR   MIM; 616187; phenotype.
DR   MedGen; CN225185.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 8.
AC   DI-04341
AR   EPM8.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM8 is
DE   an autosomal recessive form characterized by myoclonus, generalized
DE   tonic-clonic seizures and moderate to severe cognitive impairment.
DR   MIM; 616230; phenotype.
DR   MedGen; CN226297.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 9.
AC   DI-04510
AR   EPM9.
DE   A form of progressive myoclonic epilepsy, a clinically and genetically
DE   heterogeneous group of disorders defined by the combination of action
DE   and reflex myoclonus, other types of epileptic seizures, and
DE   progressive neurodegeneration and neurocognitive impairment. EPM9 is
DE   an autosomal recessive form characterized by myoclonus, tonic-clonic
DE   seizures, ataxia, and delayed psychomotor development.
DR   MIM; 616540; phenotype.
DR   MedGen; CN232697.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp.
AC   DI-05646
AR   EPRPDC.
DE   An autosomal recessive neurologic disorder characterized by onset of
DE   focal seizures in infancy and exercise-induced dystonia in childhood.
DE   Clinical features include involuntary movements and difficulties with
DE   fine motor skills of the hand.
SY   RE-PED-WC.
DR   MIM; 608105; phenotype.
DR   MedGen; C1842531.
DR   MeSH; D019305.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders.
AC   DI-00470
AR   EPILX1.
DE   A neurologic disorder characterized by variable combinations of
DE   epilepsy, learning difficulties, macrocephaly, and aggressive
DE   behavior.
SY   Bathing epilepsy, X-linked.
SY   Epilepsy, X-linked, with reflex bathing seizures.
DR   MIM; 300491; phenotype.
DR   MedGen; C1845343.
DR   MeSH; D004827.
DR   MeSH; D019954.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.
AC   DI-06540
AR   EPILX2.
DE   A neurologic disorder characterized by variable combinations of
DE   epileptic seizure, and a varying degree of intellectual disability and
DE   developmental delay. Some patients have dysmorphic facial features or
DE   mild skeletal anomalies. In general, males are more severely affected
DE   than females, although there is evidence for incomplete penetrance in
DE   both sexes.
DR   MIM; 301091; phenotype.
DR   MedGen; CN322486.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, infantile or early childhood, 1.
AC   DI-05114
AR   IECEE1.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   childhood onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. IECEE1 is an autosomal dominant condition with onset
DE   of seizures between the first weeks and first years of life.
DR   MIM; 617711; phenotype.
DR   MedGen; CN547334.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, infantile or early childhood, 2.
AC   DI-05174
AR   IECEE2.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   childhood onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. IECEE2 is an autosomal dominant condition with
DE   variable age at seizure onset, ranging from early infancy to 6 years.
DR   MIM; 617829; phenotype.
DR   MedGen; CN757794.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, infantile or early childhood, 3.
AC   DI-05273
AR   IECEE3.
DE   A form of epileptic encephalopathy, a heterogeneous group of severe
DE   childhood onset epilepsies characterized by refractory seizures,
DE   neurodevelopmental impairment, and poor prognosis. Development is
DE   normal prior to seizure onset, after which cognitive and motor delays
DE   become apparent. IECEE3 is an autosomal dominant form characterized by
DE   onset of seizures in the first years of life.The severity of the
DE   phenotype is highly variable: some patients may be non-verbal and non-
DE   ambulatory with spastic quadriparesis and poor eye contact, whereas
DE   others have moderate intellectual disability.
DR   MIM; 618012; phenotype.
DR   MedGen; CN248521.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epiphyseal chondrodysplasia, Miura type.
AC   DI-04178
AR   ECDM.
DE   An overgrowth syndrome characterized by tall stature, long hands and
DE   feet with arachnodactyly, macrodactyly of the great toes, scoliosis,
DE   coxa valga and slipped capital femoral epiphysis.
DR   MIM; 615923; phenotype.
DR   MedGen; CN207511.
DR   MeSH; D006130.
DR   MeSH; D017880.
//
ID   Epiphyseal dysplasia, multiple, 7.
AC   DI-05118
AR   EDM7.
DE   A form of multiple epiphyseal dysplasia, a generalized skeletal
DE   dysplasia associated with significant morbidity. Joint pain, joint
DE   deformity, waddling gait, and short stature are the main clinical
DE   signs and symptoms. Radiological examination of the skeleton shows
DE   delayed, irregular mineralization of the epiphyseal ossification
DE   centers and of the centers of the carpal and tarsal bones. Multiple
DE   epiphyseal dysplasia is broadly categorized into the more severe
DE   Fairbank and the milder Ribbing types. The Fairbank type is
DE   characterized by shortness of stature, short and stubby fingers, small
DE   epiphyses in several joints, including the knee, ankle, hand, and hip.
DE   The Ribbing type is confined predominantly to the hip joints and is
DE   characterized by hands that are normal and stature that is normal or
DE   near-normal. EDM7 inheritance is autosomal recessive.
DR   MIM; 617719; phenotype.
DR   MedGen; CN533578.
DR   MeSH; D010009.
//
ID   Episodic ataxia 1.
AC   DI-00475
AR   EA1.
DE   An autosomal dominant disorder characterized by brief episodes of
DE   ataxia and dysarthria. Neurological examination during and between the
DE   attacks demonstrates spontaneous, repetitive discharges in the distal
DE   musculature (myokymia) that arise from peripheral nerve. Nystagmus is
DE   absent.
SY   AEMK.
SY   EA-1.
SY   EAM.
SY   Episodic ataxia with myokymia.
SY   Paroxysmal ataxia with neuromyotonia.
DR   MIM; 160120; phenotype.
DR   MedGen; C1719788.
DR   MeSH; D020386.
//
ID   Episodic ataxia 2.
AC   DI-00476
AR   EA2.
DE   An autosomal dominant disorder characterized by acetozolamide-
DE   responsive attacks of ataxia, migraine-like symptoms, interictal
DE   nystagmus, and cerebellar atrophy.
SY   Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia.
SY   APCA.
SY   CAPA.
SY   EA-2.
SY   Episodic ataxia nystagmus-associated.
SY   Episodic ataxia with nystagmus.
SY   Hereditary paroxysmal cerebellopathy.
DR   MIM; 108500; phenotype.
DR   MedGen; C1720416.
DR   MeSH; D001259.
//
ID   Episodic ataxia 5.
AC   DI-03073
AR   EA5.
DE   A disorder characterized by episodes of vertigo and ataxia that last
DE   for several hours. Interictal examination show spontaneous downbeat
DE   and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.
SY   EA-5.
DR   MIM; 613855; phenotype.
DR   MedGen; C1866039.
DR   MeSH; D001259.
//
ID   Episodic ataxia 6.
AC   DI-00477
AR   EA6.
DE   A disorder characterized by episodic ataxia, seizures, migraine and
DE   alternating hemiplegia.
SY   EA-6.
DR   MIM; 612656; phenotype.
DR   MedGen; C2675211.
DR   MeSH; D001259.
//
ID   Episodic ataxia 9.
AC   DI-05869
AR   EA9.
DE   An autosomal dominant neurologic disorder characterized by episodic
DE   ataxia manifesting in the first years of life, early-onset seizures,
DE   difficulty walking, dizziness, slurred speech, headache, vomiting, and
DE   pain. The duration of ataxic episodes is heterogeneous. Most patients
DE   show episodes lasting minutes to maximum several hours, but periods
DE   lasting days up to weeks have been reported. Some patients have mildly
DE   delayed development with speech delay and/or autistic features or
DE   mildly impaired intellectual development.
DR   MIM; 618924; phenotype.
DR   MedGen; CN230100.
DR   MeSH; D001259.
//
ID   Episodic kinesigenic dyskinesia 1.
AC   DI-03309
AR   EKD1.
DE   An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a
DE   neurologic condition characterized by recurrent and brief attacks of
DE   abnormal involuntary movements, triggered by sudden voluntary
DE   movement. These attacks usually have onset during childhood or early
DE   adulthood and can involve dystonic postures, chorea, or athetosis.
SY   Dystonia 10.
SY   DYT10.
SY   Familial paroxysmal dystonia.
SY   Paroxysmal kinesigenic choreoathetosis.
SY   Paroxysmal kinesigenic dyskinesia.
SY   PKC.
SY   PKD.
DR   MIM; 128200; phenotype.
DR   MedGen; C1868682.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Episodic kinesigenic dyskinesia 3.
AC   DI-06612
AR   EKD3.
DE   A form of paroxysmal kinesigenic dyskinesia, a neurologic condition
DE   characterized by recurrent and brief attacks of abnormal involuntary
DE   movements. These attacks can involve dystonic postures, chorea, or
DE   athetosis. EKD3 is an autosomal dominant form with incomplete
DE   penetrance and onset in late childhood or early adolescence. Symptoms
DE   are usually triggered by sudden movement or stress, and resolve in
DE   most patients in their early twenties or later.
SY   Dystonia 36.
SY   DYT36.
DR   MIM; 620245; phenotype.
DR   MedGen; CN323378.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Episodic pain syndrome, familial, 1.
AC   DI-03683
AR   FEPS1.
DE   An autosomal dominant neurologic disorder characterized by onset in
DE   infancy of episodic debilitating upper body pain triggered by fasting,
DE   cold, and physical stress. The period of intense pain is accompanied
DE   by breathing difficulties, tachycardia, sweating, generalized pallor,
DE   peribuccal cyanosis, and stiffness of the abdominal wall. Affected
DE   individuals do not manifest altered pain sensitivity outside the
DE   episodes.
DR   MIM; 615040; phenotype.
DR   MedGen; C3554380.
DR   MedGen; C3808667.
DR   MedGen; CN164737.
DR   MeSH; D010146.
//
ID   Episodic pain syndrome, familial, 2.
AC   DI-03973
AR   FEPS2.
DE   An autosomal dominant neurologic disorder characterized by adult-onset
DE   of paroxysmal pain mainly affecting the distal lower extremities.
DR   MIM; 615551; phenotype.
DR   MedGen; C3809893.
DR   MedGen; CN182246.
DR   MeSH; D010146.
//
ID   Episodic pain syndrome, familial, 3.
AC   DI-03978
AR   FEPS3.
DE   An autosomal dominant neurologic disorder characterized by paroxysmal
DE   pain mainly affecting the distal lower extremities and occasionally
DE   the upper body, especially the joints of fingers and arms. The pain is
DE   exacerbated with fatigue.
DR   MIM; 615552; phenotype.
DR   MedGen; C3809899.
DR   MedGen; CN182247.
DR   MeSH; D010146.
//
ID   Epithelial recurrent erosion dystrophy.
AC   DI-04534
AR   ERED.
DE   A corneal dystrophy characterized by recurrent episodes of epithelial
DE   erosions from childhood, with occasional impairment of vision. Most
DE   patients have attacks of redness, photophobia, epiphora, and ocular
DE   pain. Exposure to sunlight or draught, dust and smoke and lack of
DE   sleep can precipitate attacks.
SY   Corneal erosions, recurring hereditary.
SY   RCES.
SY   Recurrent corneal erosion syndrome.
DR   MIM; 122400; phenotype.
DR   MedGen; C1852551.
DR   MeSH; D003317.
//
ID   Erythrocytosis, familial, 1.
AC   DI-00479
AR   ECYT1.
DE   An autosomal dominant disorder characterized by elevated hemoglobin
DE   and hematocrit, hypersensitivity of erythroid progenitors to
DE   erythropoietin, erythropoietin low serum levels, and no increase in
DE   platelets nor leukocytes. It has a relatively benign course and does
DE   not progress to leukemia.
SY   Autosomal dominant benign erythrocytosis.
SY   Familial primary polycythemia.
SY   PFCP.
DR   MIM; 133100; phenotype.
DR   MedGen; C1851490.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 2.
AC   DI-00480
AR   ECYT2.
DE   An autosomal recessive disorder characterized by an increase in serum
DE   red blood cell mass, hypersensitivity of erythroid progenitors to
DE   erythropoietin, increased erythropoietin serum levels, and normal
DE   oxygen affinity. Patients with ECYT2 carry a high risk for peripheral
DE   thrombosis and cerebrovascular events.
SY   Autosomal recessive benign erythrocytosis.
SY   Polycythemia Chuvash type.
SY   VHL-dependent polycythemia.
DR   MIM; 263400; phenotype.
DR   MedGen; C1837915.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 3.
AC   DI-00481
AR   ECYT3.
DE   An autosomal dominant disorder characterized by elevated serum
DE   hemoglobin and hematocrit, and normal serum erythropoietin levels.
DR   MIM; 609820; phenotype.
DR   MedGen; C1853286.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 4.
AC   DI-00482
AR   ECYT4.
DE   An autosomal dominant disorder characterized by elevated serum
DE   hemoglobin and hematocrit, and normal platelet and leukocyte counts.
DR   MIM; 611783; phenotype.
DR   MedGen; C2673187.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 5.
AC   DI-05215
AR   ECYT5.
DE   An autosomal dominant disorder characterized by elevated serum
DE   hemoglobin and hematocrit. Some patients have increased serum
DE   erythropoietin levels.
DR   MIM; 617907; phenotype.
DR   MedGen; CN873435.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 8.
AC   DI-03027
AR   ECYT8.
DE   An autosomal recessive disorder characterized by elevated serum
DE   hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency.
DE   ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.
SY   Bisphosphoglycerate mutase deficiency.
SY   Bisphosphoglyceromutase deficiency.
SY   BPGM deficiency.
SY   Diphosphoglycerate mutase deficiency of erythrocyte.
SY   DPGM deficiency.
SY   Erythrocytosis due to bisphosphoglycerate mutase deficiency.
DR   MIM; 222800; phenotype.
DR   MedGen; C1291620.
DR   MeSH; D000743.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE.
AC   DI-03968
AR   EPKHE.
DE   A syndrome characterized by severe dermatitis, multiple allergies and
DE   metabolic wasting. Clinical features include erythroderma, yellowish
DE   papules and plaques arranged at the periphery of the palms, along the
DE   fingers and over weight-bearing areas of the feet, skin erosions and
DE   scaling, and hypotrichosis. Additionally, patients manifest severe
DE   food allergies, elevated immunoglobulin E (IgE) levels and recurrent
DE   infections with marked metabolic wasting.
SY   SAM syndrome.
SY   Severe dermatitis, multiple allergies, and metabolic wasting syndrome.
DR   MIM; 615508; phenotype.
DR   MedGen; C3809719.
DR   MedGen; CN181198.
DR   MeSH; D003873.
DR   MeSH; D007039.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
KW   KW-1063:Hypotrichosis.
//
ID   Erythrokeratodermia variabilis et progressiva 1.
AC   DI-00483
AR   EKVP1.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases.
SY   Congenital familial erythrokeratodermia figurata in plaques.
SY   EKV.
SY   EKVP.
SY   Erythrokeratodermia progressive symmetric.
SY   Erythrokeratodermia variabilis.
SY   Erythrokeratodermia variabilis et progressiva.
SY   Erythrokeratodermia variabilis Mendes da Costa type.
SY   Erythrokeratodermia variabilis with erythema gyratum repens.
SY   Greither Disease.
SY   Keratosis palmoplantaris transgrediens et progrediens.
SY   PSEK.
SY   Transgrediens et progrediens palmoplantar keratoderma.
DR   MIM; 133200; phenotype.
DR   MedGen; C0265961.
DR   MedGen; C1851479.
DR   MedGen; C1851480.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 2.
AC   DI-05018
AR   EKVP2.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases.
DR   MIM; 617524; phenotype.
DR   MedGen; CN258420.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 3.
AC   DI-05019
AR   EKVP3.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases.
DR   MIM; 617525; phenotype.
DR   MedGen; CN258421.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 4.
AC   DI-05020
AR   EKVP4.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases.
DR   MIM; 617526; phenotype.
DR   MedGen; CN258422.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 5.
AC   DI-05138
AR   EKVP5.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases. EKVP5 inheritance is autosomal recessive.
DR   MIM; 617756; phenotype.
DR   MedGen; CN583363.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 6.
AC   DI-05634
AR   EKVP6.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases. EKVP6 inheritance is autosomal dominant.
DR   MIM; 618531; phenotype.
DR   MedGen; C5193144.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythrokeratodermia variabilis et progressiva 7.
AC   DI-06018
AR   EKVP7.
DE   A form of erythrokeratodermia variabilis et progressiva, a
DE   genodermatosis characterized by the coexistence of two independent
DE   skin lesions: transient erythema and hyperkeratosis that is usually
DE   localized but occasionally occurs in its generalized form. Clinical
DE   presentation varies significantly within a family and from one family
DE   to another. Palmoplantar keratoderma is present in around 50% of
DE   cases. EKVP7 is an autosomal recessive form characterized by
DE   palmoplantar keratoderma that extends to the dorsal surface of the
DE   hands and feet, as well as erythematous annular skin lesions.
DE   Pruritus, woolly hair, and dystrophic nails may also be present.
DR   MIM; 619209; phenotype.
DR   MedGen; CN295313.
DR   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythroleukemia, familial.
AC   DI-05396
AR   FERLK.
DE   An autosomal dominant myeloproliferative disorder characterized by
DE   neoplastic proliferation of erythroblastic and myeloblastic elements
DE   with atypical erythroblasts and myeloblasts in the peripheral blood.
DE   Disease penetrance is incomplete.
SY   DI Guglielmo disease, familial.
SY   Leukemia, acute myelogenous, M6.
DR   MIM; 133180; phenotype.
DR   MedGen; C0023440.
DR   MeSH; D004915.
//
ID   Erythropoietic protoporphyria, X-linked dominant.
AC   DI-00485
AR   XLDPT.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. XLDPT is
DE   characterized biochemically by a high proportion of zinc-
DE   protoporphyrin in erythrocytes, in which a mismatch between
DE   protoporphyrin production and the heme requirement of differentiating
DE   erythroid cells leads to overproduction of protoporphyrin in amounts
DE   sufficient to cause photosensitivity and liver disease.
DR   MIM; 300752; phenotype.
DR   MedGen; C2677889.
DR   MeSH; D046351.
//
ID   Esophageal cancer.
AC   DI-01537
AR   ESCR.
DE   A malignancy of the esophagus. The most common types are esophageal
DE   squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus
DE   remains a devastating disease because it is usually not detected until
DE   it has progressed to an advanced incurable stage.
SY   Aerodigestive tract cancer.
SY   ESCC.
SY   Esophageal squamous cell carcinoma.
SY   Gastric cardia adenocarcinoma.
DR   MIM; 133239; phenotype.
DR   MedGen; C0152018.
DR   MedGen; C0279626.
DR   MedGen; C2751126.
DR   MedGen; C3149253.
DR   MedGen; C3149254.
DR   MedGen; C3149255.
DR   MeSH; D004938.
//
ID   Essential hypertension.
AC   DI-02647
AR   EHT.
DE   A condition in which blood pressure is consistently higher than normal
DE   with no identifiable cause.
DR   MIM; 145500; phenotype.
DR   MedGen; C0085580.
DR   MeSH; D006973.
//
ID   Estrogen resistance.
AC   DI-03869
AR   ESTRR.
DE   A disorder characterized by partial or complete resistance to
DE   estrogens, in the presence of elevated estrogen serum levels. Clinical
DE   features include absence of the pubertal growth spurt, delayed bone
DE   maturation, unfused epiphyses, reduced bone mineral density,
DE   osteoporosis, continued growth into adulthood and very tall adult
DE   stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities
DE   may also be present.
SY   Estrogen insensitivity.
DR   MIM; 615363; phenotype.
DR   MedGen; C1851467.
DR   MedGen; C3809250.
DR   MeSH; D004351.
//
ID   Ethylmalonic encephalopathy.
AC   DI-01539
AR   EE.
DE   Autosomal recessive disorder characterized by neurodevelopmental delay
DE   and regression, recurrent petechiae, acrocyanosis, diarrhea, leading
DE   to death in the first decade of life. It is also associated with
DE   persistent lactic acidemia and ethylmalonic and methylsuccinic
DE   aciduria.
DR   MIM; 602473; phenotype.
DR   MedGen; C1865349.
//
ID   Even-plus syndrome.
AC   DI-04676
AR   EVPLS.
DE   An autosomal recessive syndrome characterized by epiphyseal and
DE   vertebral dysplasia, prenatal-onset short stature, a distinct
DE   craniofacial phenotype with microtia, a flat facial profile with flat
DE   nose and triangular nares, cardiac malformations, and additional
DE   findings such as anal atresia, hypodontia, aplasia cutis, and others.
SY   Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations.
DR   MIM; 616854; phenotype.
DR   MedGen; CN235493.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
//
ID   Ewing sarcoma.
AC   DI-02610
AR   ES.
DE   A highly malignant, metastatic, primitive small round cell tumor of
DE   bone and soft tissue that affects children and adolescents. It belongs
DE   to the Ewing sarcoma family of tumors, a group of morphologically
DE   heterogeneous neoplasms that share the same cytogenetic features. They
DE   are considered neural tumors derived from cells of the neural crest.
DE   Ewing sarcoma represents the less differentiated form of the tumors.
SY   Askin tumor.
SY   ESFT.
SY   Ewing's tumor.
SY   Ewing sarcoma family of tumors.
SY   Extraosseous Ewing tumor.
SY   Peripheral neuroepithelioma.
SY   PNE.
SY   PNET.
SY   PNET of the chest wall.
SY   Primitive neuroectodermal tumor.
DR   MIM; 612219; phenotype.
DR   MedGen; C0553580.
DR   MedGen; C0684337.
DR   MedGen; C0877849.
DR   MedGen; C3489398.
DR   MeSH; D012512.
//
ID   Exercise intolerance, riboflavin-responsive.
AC   DI-04667
AR   RREI.
DE   A riboflavin-responsive form of exercise intolerance, a condition
DE   characterized by failure to maintain an expected level of force during
DE   sustained or repeated muscle contraction, resulting in an overwhelming
DE   sense of tiredness, lack of energy and feeling of exhaustion. RREI
DE   transmission pattern is consistent with autosomal recessive
DE   inheritance.
DR   MIM; 616839; phenotype.
DR   MedGen; CN235382.
DR   MeSH; D009135.
//
ID   Exfoliation syndrome.
AC   DI-02667
AR   XFS.
DE   A disorder characterized by accumulation of abnormal fibrillar
DE   deposits in the anterior segment of the eye. In addition to being a
DE   cause of glaucoma and glaucomatous optic neuropathy, exfoliation
DE   syndrome has also been associated with lens zonule weakness, cataract
DE   formation, and systemic vascular complications due to deposition of
DE   exfoliation material in extraocular tissues.
SY   Exfoliation glaucoma.
SY   Exfoliative syndrome.
SY   Glaucoma capsulare.
SY   PEX.
SY   Pseudoexfoliation of the lens.
SY   Pseudoexfoliation syndrome.
SY   Pseudo-exfoliation syndrome.
SY   XFG.
DR   MIM; 177650; phenotype.
DR   MedGen; C0206368.
DR   MeSH; D017889.
KW   KW-0955:Glaucoma.
//
ID   Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.
AC   DI-01540
AR   EPIDACH.
DE   Patients present with pancreatic insufficiency, intestinal
DE   malabsorption, failure to thrive, and anemia soon after birth.
DR   MIM; 612714; phenotype.
DR   MedGen; C2675184.
//
ID   Extraoral halitosis due to methanethiol oxidase deficiency.
AC   DI-05353
AR   EHMTO.
DE   An autosomal recessive malodor condition characterized by extraoral
DE   blood-borne halitosis resulting from the accumulation of sulfur-
DE   containing metabolites. In extraoral blood-borne halitosis, malodorant
DE   compounds are carried to the lungs, where they enter the breath.
DE   Affected individuals have a cabbage-like breath odor, high levels of
DE   methanethiol and dimethylsulfide in oral and nasal breath, and
DE   elevated urinary excretion of dimethylsulfoxide in the absence of
DE   intake of dimethylsulfide-containing food or use of sulfur-containing
DE   medication, lower-gastrointestinal problems, and known metabolic
DE   defects, such as methionine adenosyltransferase deficiency and
DE   tyrosinemia.
SY   Extraoral halitosis due to MTO deficiency.
SY   Extraoral halitosis with dimethylsulfoxiduria.
SY   Methanethiol oxidase deficiency.
SY   MTO deficiency.
DR   MIM; 618148; phenotype.
DR   MedGen; CN257731.
DR   MeSH; D006209.
//
ID   Fabry disease.
AC   DI-01544
AR   FD.
DE   Rare X-linked sphingolipidosis disease where glycolipid accumulates in
DE   many tissues. The disease consists of an inborn error of
DE   glycosphingolipid catabolism. FD patients show systemic accumulation
DE   of globotriaosylceramide (Gb3) and related glycosphingolipids in the
DE   plasma and cellular lysosomes throughout the body. Clinical
DE   recognition in males results from characteristic skin lesions
DE   (angiokeratomas) over the lower trunk. Patients may show ocular
DE   deposits, febrile episodes, and burning pain in the extremities. Death
DE   results from renal failure, cardiac or cerebral complications of
DE   hypertension or other vascular disease. Heterozygous females may
DE   exhibit the disorder in an attenuated form, they are more likely to
DE   show corneal opacities.
DR   MIM; 301500; phenotype.
DR   MedGen; C0002986.
DR   MedGen; C1970820.
//
ID   Facial clefting, oblique, 1.
AC   DI-03222
AR   OBLFC1.
DE   A rare form of facial clefting. A facial cleft is any of the fissures
DE   between the embryonic prominences that normally unite to form the
DE   face.
SY   Oblique facial cleft.
SY   Oculomaxillofacial dysplasia with oblique facial clefts.
SY   Orbitofacial cleft.
DR   MIM; 600251; phenotype.
DR   MedGen; C1838348.
DR   MeSH; D019767.
//
ID   Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome.
AC   DI-05531
AR   FHEIG.
DE   An autosomal dominant syndrome characterized by delayed motor and
DE   intellectual development, poor speech, seizures, generalized
DE   hypertrichosis and facial dysmorphic features, including hypotonic
DE   facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy
DE   eyebrows and long eyelashes, low-set ears, short deep philtrum,
DE   gingival overgrowth, prominent upper and lower vermilion, and everted
DE   upper lip.
DR   MIM; 618381; phenotype.
DR   MedGen; CN258280.
DR   MeSH; D000015.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Facial dysmorphism, immunodeficiency, livedo, and short stature.
AC   DI-03708
AR   FILS.
DE   A syndrome characterized by mild facial dysmorphism, mainly malar
DE   hypoplasia, livedo on the skin since birth, and immunodeficiency
DE   resulting in recurrent infections. Growth impairment is observed
DE   during early childhood and results in variable short stature in
DE   adulthood.
SY   FILS syndrome.
DR   MIM; 615139; phenotype.
DR   MedGen; C3554576.
DR   MedGen; CN168278.
DR   MeSH; D006130.
DR   MeSH; D007153.
DR   MeSH; D019066.
DR   MeSH; D054068.
//
ID   Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.
AC   DI-04142
AR   FDLAB.
DE   A syndrome characterized by dislocated crystalline lenses and anterior
DE   segment abnormalities in association with a distinctive facies
DE   involving flat cheeks and a beaked nose. Some affected individuals
DE   develop highly unusual non-traumatic conjunctival cysts (filtering
DE   blebs).
SY   Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.
SY   Shawaf-Traboulsi syndrome.
SY   Traboulsi syndrome.
DR   MIM; 601552; phenotype.
DR   MedGen; C1832167.
DR   MeSH; D004479.
DR   MeSH; D019465.
//
ID   Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
AC   DI-05120
AR   FPVEPD.
DE   An autosomal dominant congenital disorder characterized by non-
DE   progressive bilateral facial palsy, velopharyngeal dysfunction
DE   presenting with varying degrees of hypomimia, rhinophonia and impaired
DE   gag reflex, and bilateral ptosis.
DR   MIM; 617732; phenotype.
DR   MedGen; CN570508.
DR   MeSH; D003389.
//
ID   Facial paresis, hereditary congenital, 3.
AC   DI-03507
AR   HCFP3.
DE   A form of facial paresis, a disease characterized by isolated
DE   dysfunction of the facial nerve (CN VII). HCFP3 patients are affected
DE   by bilateral facial palsy, facial muscle weakness of muscles
DE   innervated by CN VII, hearing loss, and strabismus.
DR   MIM; 614744; phenotype.
DR   MedGen; C3553625.
DR   MedGen; CN130589.
DR   MeSH; D005158.
//
ID   Facioscapulohumeral muscular dystrophy 1.
AC   DI-01545
AR   FSHD1.
DE   A degenerative muscle disease characterized by slowly progressive
DE   weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE   The onset of symptoms usually occurs in the first or second decade of
DE   life. Affected individuals usually present with impairment of upper
DE   extremity elevation. This tends to be followed by facial weakness,
DE   primarily involving the orbicularis oris and orbicularis oculi
DE   muscles.
SY   Facioscapulohumeral muscular dystrophy.
SY   Facioscapulohumeral muscular dystrophy type 1A.
SY   FMD.
SY   FSHD.
SY   FSHD1A.
SY   Landouzy-Dejerine muscular dystrophy.
DR   MIM; 158900; phenotype.
DR   MedGen; C0238288.
DR   MedGen; C1834673.
DR   MeSH; D020391.
//
ID   Facioscapulohumeral muscular dystrophy 2, digenic.
AC   DI-03604
AR   FSHD2.
DE   A degenerative muscle disease characterized by slowly progressive
DE   weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE   The onset of symptoms usually occurs in the first or second decade of
DE   life. Affected individuals usually present with impairment of upper
DE   extremity elevation. This tends to be followed by facial weakness,
DE   primarily involving the orbicularis oris and orbicularis oculi
DE   muscles.
SY   Digenic facioscapulohumeral muscular dystrophy.
SY   Digenic FSHD2.
SY   Facioscapulohumeral muscular dystrophy type 1B.
SY   FSHD1B.
DR   MIM; 158901; phenotype.
DR   MedGen; C1834671.
DR   MeSH; D020391.
//
ID   Facioscapulohumeral muscular dystrophy 3, digenic.
AC   DI-06196
AR   FSHD3.
DE   A form of facioscapulohumeral muscular dystrophy, a degenerative
DE   muscle disease characterized by slowly progressive weakness of the
DE   muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a
DE   digenic form characterized by adult onset of proximal muscle weakness
DE   affecting the face, neck, scapular muscles, and upper and lower limbs.
DE   Muscle involvement is usually asymmetric, and other muscle groups may
DE   become involved with progression of the disease.
DR   MIM; 619477; phenotype.
DR   MedGen; CN301148.
DR   MeSH; D020391.
//
ID   Facioscapulohumeral muscular dystrophy 4, digenic.
AC   DI-06197
AR   FSHD4.
DE   A digenic form of facioscapulohumeral muscular dystrophy, a
DE   degenerative muscle disease characterized by slowly progressive
DE   weakness of the muscles of the face, upper-arm, and shoulder girdle.
DE   With disease progression, other muscles may also become affected.
DE   There is significant clinical variability and incomplete penetrance.
DR   MIM; 619478; phenotype.
DR   MedGen; CN301149.
DR   MeSH; D020391.
//
ID   Factor II deficiency.
AC   DI-02664
AR   FA2D.
DE   A very rare blood coagulation disorder characterized by mucocutaneous
DE   bleeding symptoms. The severity of the bleeding manifestations
DE   correlates with blood factor II levels.
SY   Dysprothrombinemia.
SY   Hypoprothrombinemia.
SY   Prothrombin deficiency.
DR   MIM; 613679; phenotype.
DR   MedGen; C0020640.
DR   MedGen; C0272317.
DR   MeSH; D007020.
//
ID   Factor V and factor VIII combined deficiency 1.
AC   DI-01546
AR   F5F8D1.
DE   A blood coagulation disorder characterized by bleeding symptoms
DE   similar to those in hemophilia or parahemophilia, that are caused by
DE   single deficiency of FV or FVIII, respectively. The most common
DE   symptoms are epistaxis, menorrhagia, and excessive bleeding during or
DE   after trauma. Plasma levels of coagulation factors V and VIII are in
DE   the range of 5 to 30% of normal.
SY   Familial multiple coagulation factor deficiency I.
SY   FMFD1.
SY   FMFD I.
SY   MCFD1.
SY   Multiple coagulation factor deficiency 1.
SY   Multiple coagulation factor deficiency I.
DR   MIM; 227300; phenotype.
DR   MedGen; C1856883.
DR   MeSH; D025861.
//
ID   Factor V and factor VIII combined deficiency 2.
AC   DI-02942
AR   F5F8D2.
DE   A blood coagulation disorder characterized by bleeding symptoms
DE   similar to those in hemophilia or parahemophilia, that are caused by
DE   single deficiency of FV or FVIII, respectively. The most common
DE   symptoms are epistaxis, menorrhagia, and excessive bleeding during or
DE   after trauma. Plasma levels of coagulation factors V and VIII are in
DE   the range of 5 to 30% of normal.
SY   MCFD2.
SY   Multiple coagulation factor deficiency 2.
DR   MIM; 613625; phenotype.
DR   MedGen; C3150889.
DR   MeSH; D025861.
//
ID   Factor V deficiency.
AC   DI-00486
AR   FA5D.
DE   A blood coagulation disorder leading to a hemorrhagic diathesis known
DE   as parahemophilia.
SY   Factor 5 deficiency.
SY   Owren disease.
SY   Owren parahemophilia.
SY   Parahemophilia.
SY   Quebec platelet disorder.
DR   MIM; 227400; phenotype.
DR   MedGen; C0015499.
DR   MeSH; D005166.
//
ID   Factor VII deficiency.
AC   DI-01541
AR   FA7D.
DE   A hemorrhagic disease with variable presentation. The clinical picture
DE   can be very severe, with the early occurrence of intracerebral
DE   hemorrhages or repeated hemarthroses, or, in contrast, moderate with
DE   cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages
DE   provoked by a surgical intervention. Finally, numerous subjects are
DE   completely asymptomatic despite very low factor VII levels.
SY   Congenital proconvertin deficiency.
SY   F7 deficiency.
SY   Factor 7 deficiency.
SY   Hypoproconvertinemia.
DR   MIM; 227500; phenotype.
DR   MedGen; C0015503.
DR   MeSH; D005168.
//
ID   Factor X deficiency.
AC   DI-03028
AR   FA10D.
DE   A hemorrhagic disease with variable presentation. Affected individuals
DE   can manifest prolonged nasal and mucosal hemorrhage, menorrhagia,
DE   hematuria, and occasionally hemarthrosis. Some patients do not have
DE   clinical bleeding diathesis.
SY   F10 deficiency.
SY   Factor 10 deficiency.
SY   Stuart-Prower factor deficiency.
DR   MIM; 227600; phenotype.
DR   MedGen; C0015519.
DR   MeSH; D005171.
//
ID   Factor XI deficiency.
AC   DI-01542
AR   FA11D.
DE   A hemorrhagic disease characterized by reduced levels and activity of
DE   factor XI resulting in moderate bleeding symptoms, usually occurring
DE   after trauma or surgery. Patients usually do not present spontaneous
DE   bleeding but women can present with menorrhagia. Hemorrhages are
DE   usually moderate.
SY   F11 deficiency.
SY   Factor 11 deficiency.
SY   Hemophilia C.
SY   Plasma thromboplastin antecedent deficiency.
SY   PTA deficiency.
SY   Rosenthal factor deficiency.
SY   Rosenthal syndrome.
DR   MIM; 612416; phenotype.
DR   MedGen; C0015523.
DR   MeSH; D005173.
//
ID   Factor XII deficiency.
AC   DI-00487
AR   FA12D.
DE   An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis
DE   is based on finding a low plasma activity of the factor in coagulating
DE   assays. It is usually only accidentally discovered through pre-
DE   operative blood tests. Factor XII deficiency is divided into two
DE   categories, a cross-reacting material (CRM)-negative group (negative
DE   F12 antigen detection) and a CRM-positive group (positive F12 antigen
DE   detection).
SY   HAF deficiency.
SY   Hageman factor deficiency.
DR   MIM; 234000; phenotype.
DR   MedGen; C0015526.
DR   MeSH; D005175.
//
ID   Factor XIII subunit A deficiency.
AC   DI-01543
AR   FA13AD.
DE   An autosomal recessive hematologic disorder characterized by a life-
DE   long bleeding tendency, impaired wound healing and spontaneous
DE   abortion in affected women.
SY   F13 deficiency type 2.
SY   Type II F13 deficiency.
DR   MIM; 613225; phenotype.
DR   MedGen; C2750514.
DR   MeSH; D005177.
//
ID   Factor XIII subunit B deficiency.
AC   DI-02829
AR   FA13BD.
DE   An autosomal recessive hematologic disorder characterized by a life-
DE   long bleeding tendency, impaired wound healing and spontaneous
DE   abortion in affected women.
SY   F13 deficiency type 1.
SY   Type I F13 deficiency.
DR   MIM; 613235; phenotype.
DR   MedGen; C2750481.
DR   MeSH; D005177.
//
ID   Familial adenomatous polyposis 1.
AC   DI-01547
AR   FAP1.
DE   An autosomal dominant cancer predisposition syndrome characterized by
DE   adenomatous polyps of the colon and rectum, but also of upper
DE   gastrointestinal tract (ampullary, duodenal and gastric adenomas).
DE   This is a viciously premalignant disease with one or more polyps
DE   progressing through dysplasia to malignancy in untreated gene carriers
DE   with a median age at diagnosis of 40 years.
SY   Adenomatous polyposis of the colon.
SY   APC.
SY   Familial polyposis of the colon.
SY   FPC.
DR   MIM; 175100; phenotype.
DR   MedGen; C0017097.
DR   MedGen; C1868019.
DR   MedGen; C2673218.
DR   MedGen; C2674616.
DR   MedGen; C2713442.
DR   MeSH; D011125.
//
ID   Familial adenomatous polyposis 2.
AC   DI-01228
AR   FAP2.
DE   A condition characterized by the development of multiple colorectal
DE   adenomatous polyps, benign neoplasms derived from glandular
DE   epithelium. Some affected individuals may develop colorectal
DE   carcinoma.
SY   Adenomas multiple colorectal autosomal recessive.
SY   Colorectal adenomatous polyposis autosomal recessive.
DR   MIM; 608456; phenotype.
DR   MedGen; C1837991.
DR   MeSH; D018256.
//
ID   Familial adenomatous polyposis 3.
AC   DI-04455
AR   FAP3.
DE   A form of familial adenomatous polyposis, a condition characterized by
DE   the development of multiple colorectal adenomatous polyps, benign
DE   neoplasms derived from glandular epithelium. Some affected individuals
DE   may develop colorectal carcinoma.
DR   MIM; 616415; phenotype.
DR   MedGen; CN231254.
DR   MeSH; D018256.
//
ID   Familial adenomatous polyposis 4.
AC   DI-04840
AR   FAP4.
DE   A form of familial adenomatous polyposis, a condition characterized by
DE   the development of multiple colorectal adenomatous polyps, benign
DE   neoplasms derived from glandular epithelium. Some affected individuals
DE   may develop colorectal carcinoma. FAP4 inheritance is autosomal
DE   recessive.
DR   MIM; 617100; phenotype.
DR   MedGen; CN238101.
DR   MeSH; D018256.
//
ID   Familial apolipoprotein gene cluster deletion syndrome.
AC   DI-06511
AR   FAPLDS.
DE   An autosomal dominant disorder of lipoprotein metabolism. Affected
DE   individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins,
DE   have marked plasma high density lipoprotein (HDL) deficiency, and
DE   manifest premature atherosclerosis and coronary artery disease.
DR   MIM; 620058; phenotype.
DR   MedGen; CN322055.
DR   MeSH; D000012.
//
ID   Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome.
AC   DI-01558
AR   FAMMMPC.
DE   An inherited cancer predisposition syndrome characterized by an
DE   increased risk of developing malignant melanoma and/or pancreatic
DE   cancer. Mutation carriers within families may develop either or both
DE   types of cancer.
SY   Melanoma-pancreatic cancer syndrome.
DR   MIM; 606719; phenotype.
DR   MedGen; C1838547.
DR   MeSH; D009386.
//
ID   Familial cold autoinflammatory syndrome 1.
AC   DI-01561
AR   FCAS1.
DE   A rare autosomal dominant systemic inflammatory disease characterized
DE   by recurrent episodes of maculopapular rash associated with
DE   arthralgias, myalgias, fever and chills, swelling of the extremities,
DE   and conjunctivitis after generalized exposure to cold. Rarely, some
DE   patients may also develop late-onset renal amyloidosis.
SY   CAPS1.
SY   Cold hypersensitivity.
SY   Cryopyrin-associated periodic syndrome 1.
SY   Familial cold-induced autoinflammatory syndrome.
SY   Familial cold urticaria.
SY   FCAS.
SY   FCU.
DR   MIM; 120100; phenotype.
DR   MedGen; C0343068.
DR   MeSH; D056587.
//
ID   Familial cold autoinflammatory syndrome 2.
AC   DI-01562
AR   FCAS2.
DE   A rare autosomal dominant systemic inflammatory disease characterized
DE   by recurrent episodes of maculopapular rash associated with
DE   arthralgias, myalgias, fever and chills, swelling of the extremities,
DE   and conjunctivitis after generalized exposure to cold.
DR   MIM; 611762; phenotype.
DR   MedGen; C2673198.
DR   MeSH; D056587.
//
ID   Familial cold autoinflammatory syndrome 3.
AC   DI-03380
AR   FCAS3.
DE   An autosomal dominant immune disorder characterized by the development
DE   of cutaneous urticaria, erythema, and pruritis in response to cold
DE   exposure. Affected individuals have variable additional immunologic
DE   defects, including antibody deficiency, decreased numbers of B-cells,
DE   defective B-cells, increased susceptibility to infection, and
DE   increased risk of autoimmune disorders.
SY   Antibody deficiency and immune dysregulation PLACG2-associated.
SY   FACU.
SY   Familial atypical cold urticaria.
SY   PLAID.
DR   MIM; 614468; phenotype.
DR   MedGen; C3280914.
DR   MeSH; D056587.
//
ID   Familial cold autoinflammatory syndrome 4.
AC   DI-04279
AR   FCAS4.
DE   A form of autoinflammatory syndrome, a rare autosomal dominant
DE   systemic disease characterized by recurrent episodes of maculopapular
DE   rash associated with arthralgias, myalgias, fever and chills, swelling
DE   of the extremities, and conjunctivitis after generalized exposure to
DE   cold.
DR   MIM; 616115; phenotype.
DR   MedGen; CN221665.
DR   MeSH; D056587.
//
ID   Familial expansile osteolysis.
AC   DI-01568
AR   FEO.
DE   Rare autosomal dominant bone disorder characterized by focal areas of
DE   increased bone remodeling. The osteolytic lesions develop usually in
DE   the long bones during early adulthood. FEO is often associated with
DE   early-onset deafness and loss of dentition.
DR   MIM; 174810; phenotype.
DR   MedGen; C0432292.
//
ID   Familial gestational hyperthyroidism.
AC   DI-02821
AR   HTFG.
DE   A condition characterized by abnormally high levels of serum thyroid
DE   hormones occurring during early pregnancy.
DR   MIM; 603373; phenotype.
DR   MedGen; C1863959.
DR   MeSH; D006980.
//
ID   Familial infantile myoclonic epilepsy.
AC   DI-02926
AR   FIME.
DE   A subtype of idiopathic epilepsy starting in early infancy and
DE   manifesting as myoclonic seizures, febrile convulsions, and tonic-
DE   clonic seizures.
SY   EIM.
DR   MIM; 605021; phenotype.
DR   MedGen; C0917800.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Familial male precocious puberty.
AC   DI-01592
AR   FMPP.
DE   In FMPP the receptor is constitutively activated.
SY   Testotoxicosis.
DR   MIM; 176410; phenotype.
DR   MedGen; C0342549.
DR   MedGen; C2674612.
//
ID   Familial Mediterranean fever, autosomal dominant.
AC   DI-00495
AR   ADFMF.
DE   A hereditary periodic fever syndrome characterized by periodic fever,
DE   serosal inflammation and pain in the abdomen, chest or joints as seen
DE   also in the autosomal recessive form of the disease. It is associated
DE   with reactive renal amyloidosis and characterized by colchicine
DE   unresponsiveness.
DR   MIM; 134610; phenotype.
DR   MedGen; C1851347.
DR   MeSH; D010505.
KW   KW-1008:Amyloidosis.
//
ID   Familial Mediterranean fever, autosomal recessive.
AC   DI-00496
AR   ARFMF.
DE   A hereditary periodic fever syndrome characterized by recurrent
DE   episodic fever, serosal inflammation and pain in the abdomen, chest or
DE   joints. It is frequently complicated by reactive amyloidosis, which
DE   leads to renal failure and can be prophylactically treated with
DE   colchicine.
DR   MIM; 249100; phenotype.
DR   MedGen; C0031069.
DR   MeSH; D010505.
KW   KW-1008:Amyloidosis.
//
ID   Familial multiple endocrine neoplasia type I.
AC   DI-01593
AR   MEN1.
DE   Autosomal dominant disorder characterized by tumors of the parathyroid
DE   glands, gastro-intestinal endocrine tissue, the anterior pituitary and
DE   other tissues. Cutaneous lesions and nervous-tissue tumors can exist.
DE   Prognosis in MEN1 patients is related to hormonal hypersecretion by
DE   tumors, such as hypergastrinemia causing severe peptic ulcer disease
DE   (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and
DE   acute forms of hyperinsulinemia.
DR   MIM; 131100; phenotype.
DR   MedGen; C0025267.
DR   MedGen; C3149237.
//
ID   Familial non-Hodgkin lymphoma.
AC   DI-01594
AR   NHL.
DE   Cancer that starts in cells of the lymph system, which is part of the
DE   body's immune system. NHLs can occur at any age and are often marked
DE   by enlarged lymph nodes, fever and weight loss.
DR   MIM; 605027; phenotype.
DR   MedGen; C0024305.
//
ID   Familial paroxysmal ventricular fibrillation 1.
AC   DI-01808
AR   VF1.
DE   A cardiac arrhythmia marked by fibrillary contractions of the
DE   ventricular muscle due to rapid repetitive excitation of myocardial
DE   fibers without coordinated contraction of the ventricle and by absence
DE   of atrial activity.
SY   IVF.
SY   Susceptibility to ventricular fibrillation during myocardial infarction.
SY   Ventricular fibrillation, paroxysmal familial, 1.
SY   VF.
DR   MIM; 603829; phenotype.
DR   MedGen; C2751898.
DR   MeSH; D014693.
//
ID   Familial paroxysmal ventricular fibrillation 2.
AC   DI-02563
AR   VF2.
DE   A cardiac arrhythmia marked by fibrillary contractions of the
DE   ventricular muscle due to rapid repetitive excitation of myocardial
DE   fibers without coordinated contraction of the ventricle and by absence
DE   of atrial activity.
DR   MIM; 612956; phenotype.
DR   MedGen; C2751829.
DR   MeSH; D014693.
//
ID   Familial platelet disorder with associated myeloid malignancy.
AC   DI-01597
AR   FPDMM.
DE   Autosomal dominant disease characterized by qualitative and
DE   quantitative platelet defects, and propensity to develop acute
DE   myelogenous leukemia.
DR   MIM; 601399; phenotype.
DR   MedGen; C1832388.
//
ID   Familial porphyria cutanea tarda.
AC   DI-00497
AR   FPCT.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. Familial
DE   porphyria cutanea tarda is an autosomal dominant disorder
DE   characterized by light-sensitive dermatitis, with onset in later life.
DE   It is associated with the excretion of large amounts of uroporphyrin
DE   in the urine. Iron overload is often present in association with
DE   varying degrees of liver damage.
SY   PCT type II.
SY   Porphyria cutanea tarda type II.
SY   Porphyria hepatocutaneous type.
SY   UROD deficiency.
SY   Uroporphyrinogen decarboxylase deficiency.
DR   MIM; 176100; phenotype.
DR   MedGen; C0268323.
DR   MeSH; D017119.
//
ID   Familial scaphocephaly syndrome.
AC   DI-00498
AR   FSPC.
DE   An autosomal dominant craniosynostosis syndrome characterized by
DE   scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and
DE   mild intellectual disability. Scaphocephaly is the most common of the
DE   craniosynostosis conditions and is characterized by a long, narrow
DE   head. It is due to premature fusion of the sagittal suture or from
DE   external deformation.
SY   Scaphocephaly, maxillary retrusion, and impaired intellectual development.
DR   MIM; 609579; phenotype.
DR   MedGen; C1865070.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
KW   KW-0991:Intellectual disability.
//
ID   Familial spinal neurofibromatosis.
AC   DI-01598
AR   FSNF.
DE   Considered to be an alternative form of neurofibromatosis, showing
DE   multiple spinal tumors.
DR   MIM; 162210; phenotype.
DR   MedGen; C1834235.
//
ID   Fanconi anemia complementation group B.
AC   DI-01600
AR   FANCB.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DE   Some severe FANCB cases manifest features of VACTERL syndrome with
DE   hydrocephalus.
SY   FA2.
SY   Fanconi pancytopenia type 2.
DR   MIM; 300514; phenotype.
DR   MedGen; C1845292.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group C.
AC   DI-03112
AR   FANCC.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
SY   FA3.
SY   FAC.
SY   FACC.
SY   Fanconi pancytopenia type 3.
DR   MIM; 227645; phenotype.
DR   MedGen; C3468041.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group D1.
AC   DI-01601
AR   FANCD1.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
SY   FAD1.
DR   MIM; 605724; phenotype.
DR   MedGen; C1838457.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group D2.
AC   DI-02763
AR   FANCD2.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
SY   FA4.
SY   FACD.
SY   FAD2.
SY   FANCD.
SY   Fanconi anemia complementation group D.
SY   Fanconi pancytopenia type 4.
DR   MIM; 227646; phenotype.
DR   MedGen; C3160738.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group E.
AC   DI-03117
AR   FANCE.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 600901; phenotype.
DR   MedGen; C3160739.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group F.
AC   DI-03058
AR   FANCF.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 603467; phenotype.
DR   MedGen; CN068975.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group G.
AC   DI-03136
AR   FANCG.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 614082; phenotype.
DR   MedGen; CN069000.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group I.
AC   DI-01602
AR   FANCI.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 609053; phenotype.
DR   MedGen; C1836861.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group J.
AC   DI-01603
AR   FANCJ.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 609054; phenotype.
DR   MedGen; C1836860.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group L.
AC   DI-03153
AR   FANCL.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 614083; phenotype.
DR   MedGen; CN068553.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group N.
AC   DI-01604
AR   FANCN.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 610832; phenotype.
DR   MedGen; C1835817.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group O.
AC   DI-02852
AR   FANCO.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 613390; phenotype.
DR   MedGen; C3150653.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group P.
AC   DI-03118
AR   FANCP.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DE   Some individuals affected by Fanconi anemia of complementation group P
DE   have skeletal anomalies.
DR   MIM; 613951; phenotype.
DR   MedGen; CN077628.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group Q.
AC   DI-03812
AR   FANCQ.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 615272; phenotype.
DR   MedGen; C3808988.
DR   MedGen; CN177724.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group T.
AC   DI-04462
AR   FANCT.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 616435; phenotype.
DR   MedGen; CN231325.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group A.
AC   DI-01599
AR   FANCA.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
SY   Estren-Dameshek variant of Fanconi anemia.
SY   Estren-Dameshek variant of Fanconi pancytopenia.
SY   FA.
SY   Fanconi anemia.
SY   Fanconi anemia Estren-Dameshek variant.
DR   MIM; 227650; phenotype.
DR   MedGen; C0015625.
DR   MedGen; C1856796.
DR   MedGen; C1856797.
DR   MedGen; C3469521.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group R.
AC   DI-04906
AR   FANCR.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 617244; phenotype.
DR   MedGen; CN239562.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group S.
AC   DI-05209
AR   FANCS.
DE   A form of Fanconi anemia, a disorder affecting all bone marrow
DE   elements and resulting in anemia, leukopenia and thrombopenia. It is
DE   associated with cardiac, renal and limb malformations, dermal
DE   pigmentary changes, and a predisposition to the development of
DE   malignancies. At the cellular level it is associated with
DE   hypersensitivity to DNA-damaging agents, chromosomal instability
DE   (increased chromosome breakage) and defective DNA repair.
DR   MIM; 617883; phenotype.
DR   MedGen; CN850168.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group U.
AC   DI-04905
AR   FANCU.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 617247; phenotype.
DR   MedGen; CN239559.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group V.
AC   DI-04907
AR   FANCV.
DE   A disorder affecting all bone marrow elements and resulting in anemia,
DE   leukopenia and thrombopenia. It is associated with cardiac, renal and
DE   limb malformations, dermal pigmentary changes, and a predisposition to
DE   the development of malignancies. At the cellular level it is
DE   associated with hypersensitivity to DNA-damaging agents, chromosomal
DE   instability (increased chromosome breakage) and defective DNA repair.
DR   MIM; 617243; phenotype.
DR   MedGen; CN239561.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia, complementation group W.
AC   DI-05128
AR   FANCW.
DE   A form of Fanconi anemia, a disorder affecting all bone marrow
DE   elements and resulting in anemia, leukopenia and thrombopenia. It is
DE   associated with cardiac, renal and limb malformations, dermal
DE   pigmentary changes, and a predisposition to the development of
DE   malignancies. At the cellular level it is associated with
DE   hypersensitivity to DNA-damaging agents, chromosomal instability
DE   (increased chromosome breakage) and defective DNA repair.
DR   MIM; 617784; phenotype.
DR   MedGen; CN653907.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi renotubular syndrome 1.
AC   DI-05857
AR   FRTS1.
DE   A form of Fanconi renotubular syndrome, a disease due to a generalized
DE   dysfunction of the proximal kidney tubule resulting in decreased
DE   solute and water reabsorption. Patients have polydipsia and polyuria
DE   with phosphaturia, glycosuria and aminoaciduria. They may develop
DE   hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE   toward dehydration. Some eventually develop renal insufficiency. FRTS1
DE   inheritance is autosomal dominant.
SY   Adult Fanconi syndrome.
SY   Fanconi renotubular syndrome.
SY   Fanconi syndrome without cystinosis.
SY   FRTS.
SY   Luder-Sheldon syndrome.
SY   Renal Fanconi syndrome.
SY   RFS.
DR   MIM; 134600; phenotype.
DR   MedGen; C0341703.
DR   MedGen; C4551503.
DR   MeSH; D005198.
//
ID   Fanconi renotubular syndrome 2.
AC   DI-02851
AR   FRTS2.
DE   A form of Fanconi renotubular syndrome, a disease due to a generalized
DE   dysfunction of the proximal kidney tubule resulting in decreased
DE   solute and water reabsorption. Patients have polydipsia and polyuria
DE   with phosphaturia, glycosuria and aminoaciduria. They may develop
DE   hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE   toward dehydration. Some eventually develop renal insufficiency. FRTS2
DE   inheritance is autosomal recessive.
DR   MIM; 613388; phenotype.
DR   MedGen; C3150652.
DR   MeSH; D005198.
//
ID   Fanconi renotubular syndrome 3.
AC   DI-03997
AR   FRTS3.
DE   A form of Fanconi renotubular syndrome, a disease due to a generalized
DE   dysfunction of the proximal kidney tubule resulting in decreased
DE   solute and water reabsorption. Patients have polydipsia and polyuria
DE   with phosphaturia, glycosuria and aminoaciduria. They may develop
DE   hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE   toward dehydration. Some eventually develop renal insufficiency. FRTS3
DE   inheritance is autosomal dominant.
DR   MIM; 615605; phenotype.
DR   MedGen; C3810100.
DR   MedGen; CN183736.
DR   MeSH; D005198.
//
ID   Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.
AC   DI-04230
AR   FRTS4.
DE   An autosomal dominant disease characterized by Fanconi syndrome
DE   associated with a beta cell phenotype of neonatal hyperinsulinism with
DE   macrosomia and young onset diabetes. Fanconi syndrome is a proximal
DE   tubulopathy resulting in generalized aminoaciduria, low molecular
DE   weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia.
DE   Some FRTS4 patients have nephrocalcinosis, renal impairment,
DE   hypercalciuria with relative hypocalcemia, and hypermagnesemia.
SY   FRTS4 with MODY.
DR   MIM; 616026; phenotype.
DR   MedGen; CN219570.
DR   MeSH; D003924.
DR   MeSH; D005198.
KW   KW-0219:Diabetes mellitus.
//
ID   Fanconi renotubular syndrome 5.
AC   DI-05856
AR   FRTS5.
DE   A form of Fanconi renotubular syndrome, a disease due to a generalized
DE   dysfunction of the proximal kidney tubule resulting in decreased
DE   solute and water reabsorption. Patients have polydipsia and polyuria
DE   with phosphaturia, glycosuria and aminoaciduria. They may develop
DE   hypophosphatemic rickets or osteomalacia, acidosis and a tendency
DE   toward dehydration. Some eventually develop renal insufficiency. FRTS5
DE   is an autosomal recessive mitochondrial disorder characterized by
DE   proximal renotubular dysfunction from birth, followed by progressive
DE   kidney disease and pulmonary fibrosis.
SY   Fanconi renotubular syndrome, Acadian variant.
DR   MIM; 618913; phenotype.
DR   MedGen; CN282533.
DR   MeSH; D005198.
//
ID   Fanconi-Bickel syndrome.
AC   DI-01605
AR   FBS.
DE   Rare, well-defined clinical entity, inherited in an autosomal
DE   recessive mode and characterized by hepatorenal glycogen accumulation,
DE   proximal renal tubular dysfunction, and impaired utilization of
DE   glucose and galactose.
SY   Fanconi syndrome with intestinal malabsorption and galactose intolerance.
SY   Glycogenosis Fanconi type.
SY   Glycogen storage disease XI.
SY   Hepatic glycogenosis with amino aciduria and glucosuria.
SY   Hepatic glycogenosis with Fanconi nephropathy.
SY   Hepatorenal glycogenosis with renal Fanconi syndrome.
SY   Pseudo-phlorizin diabetes.
DR   MIM; 227810; phenotype.
DR   MedGen; C3495427.
DR   MeSH; D006008.
//
ID   Farber lipogranulomatosis.
AC   DI-01606
AR   FRBRL.
DE   An autosomal recessive lysosomal storage disorder characterized by
DE   subcutaneous lipid-loaded nodules, excruciating pain in the joints and
DE   extremities, and marked accumulation of ceramide in lysosomes. Disease
DE   severity is variable. The most severe disease subtype is a rare
DE   neonatal form with death occurring before 1 year of age.
SY   AC deficiency.
SY   Acid ceramidase deficiency.
SY   Ceramidase deficiency.
SY   Farber disease.
SY   N-laurylsphingosine deacylase deficiency.
DR   MIM; 228000; phenotype.
DR   MedGen; C0268255.
DR   MeSH; D055577.
//
ID   Fatal familial insomnia.
AC   DI-01607
AR   FFI.
DE   Autosomal dominant disorder and is characterized by neuronal
DE   degeneration limited to selected thalamic nuclei and progressive
DE   insomnia.
DR   MIM; 600072; phenotype.
DR   MedGen; C0206042.
//
ID   Faundes-Banka syndrome.
AC   DI-06142
AR   FABAS.
DE   An autosomal dominant disorder characterized by variable combinations
DE   of developmental delay, microcephaly, micrognathia and dysmorphic
DE   features.
DR   MIM; 619376; phenotype.
DR   MedGen; CN297085.
DR   MeSH; D065886.
//
ID   Fazio-Londe disease.
AC   DI-03010
AR   FALOND.
DE   A rare neurological disease characterized by progressive weakness of
DE   the muscles innervated by cranial nerves of the lower brain stem. It
DE   may present in childhood with severe neurological deterioration with
DE   hypotonia, respiratory insufficiency leading to premature death, or
DE   later in life with bulbar weakness which progresses to involve motor
DE   neurons throughout the neuroaxis. Clinical manifestations include
DE   dysarthria, dysphagia, facial weakness, tongue weakness, and
DE   fasciculations of the tongue and facial muscles.
SY   Bulbar palsy progressive of childhood.
SY   Fazio-Londe syndrome.
DR   MIM; 211500; phenotype.
DR   MedGen; C0015708.
DR   MedGen; C0393540.
DR   MeSH; D010244.
//
ID   Febrile seizures, familial, 11.
AC   DI-03335
AR   FEB11.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy.
SY   Familial febrile convulsions 11.
DR   MIM; 614418; phenotype.
DR   MedGen; C3280734.
DR   MeSH; D003294.
//
ID   Febrile seizures, familial, 2.
AC   DI-06236
AR   FEB2.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy. FEB2
DE   transmission pattern is consistent with autosomal dominant
DE   inheritance.
DR   MIM; 602477; phenotype.
DR   MedGen; C1865342.
DR   MeSH; D003294.
//
ID   Febrile seizures, familial, 3A.
AC   DI-00488
AR   FEB3A.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy.
SY   Familial febrile convulsions 3.
DR   MIM; 604403; phenotype.
DR   MedGen; C2751756.
DR   MeSH; D003294.
//
ID   Febrile seizures, familial, 3B.
AC   DI-02932
AR   FEB3B.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy.
SY   Familial febrile convulsions 3.
DR   MIM; 613863; phenotype.
DR   MedGen; C0009952.
DR   MedGen; C3151229.
DR   MeSH; D003294.
//
ID   Febrile seizures, familial, 4.
AC   DI-00489
AR   FEB4.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy.
SY   Familial febrile convulsions 4.
DR   MIM; 604352; phenotype.
DR   MedGen; C1858493.
DR   MeSH; D003294.
//
ID   Febrile seizures, familial, 8.
AC   DI-00490
AR   FEB8.
DE   Seizures associated with febrile episodes in childhood without any
DE   evidence of intracranial infection or defined pathologic or traumatic
DE   cause. It is a common condition, affecting 2-5% of children aged 3
DE   months to 5 years. The majority are simple febrile seizures (generally
DE   defined as generalized onset, single seizures with a duration of less
DE   than 30 minutes). Complex febrile seizures are characterized by focal
DE   onset, duration greater than 30 minutes, and/or more than one seizure
DE   in a 24 hour period. The likelihood of developing epilepsy following
DE   simple febrile seizures is low. Complex febrile seizures are
DE   associated with a moderately increased incidence of epilepsy.
SY   Familial febrile convulsions 8.
DR   MIM; 607681; phenotype.
DR   MedGen; C1969810.
DR   MeSH; D003294.
//
ID   Feingold syndrome 1.
AC   DI-01612
AR   FGLDS1.
DE   A syndrome characterized by variable combinations of esophageal and
DE   duodenal atresias, microcephaly, learning disability, intellectual
DE   disability, and limb malformations. Hand and foot abnormalities may
DE   include hypoplastic thumbs, clinodactyly of second and fifth fingers,
DE   syndactyly (characteristically between second and third and fourth and
DE   fifth toes), and shortened or absent middle phalanges. Cardiac and
DE   renal malformations, vertebral anomalies, and deafness have also been
DE   described.
SY   Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum.
SY   Microcephaly-oculo-digito-esophageal-duodenal syndrome.
SY   MMT syndrome.
SY   MODED.
SY   Oculodigitoesophagoduodenal syndrome.
SY   ODED.
DR   MIM; 164280; phenotype.
DR   MedGen; C0796068.
DR   MeSH; D004380.
DR   MeSH; D004933.
DR   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Feingold syndrome 2.
AC   DI-03283
AR   FGLDS2.
DE   A syndrome characterized by microcephaly, short stature, and digital
DE   abnormalities including brachydactyly, brachymesophalangy of the
DE   second and fifth fingers, hypoplastic thumbs of variable severity, and
DE   cutaneous syndactyly of the toes.
SY   Brachydactyly with short stature and microcephaly.
DR   MIM; 614326; phenotype.
DR   MedGen; C3280489.
DR   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Ferguson-Bonni neurodevelopmental syndrome.
AC   DI-06315
AR   FERBON.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, and hypotonia with early
DE   motor delay. Additional features may include dysmorphic facies, mild
DE   skeletal abnormalities, and hearing loss.
DR   MIM; 619699; phenotype.
DR   MedGen; CN305921.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Fetal akinesia deformation sequence 1.
AC   DI-01615
AR   FADS1.
DE   A clinically and genetically heterogeneous group of disorders with
DE   congenital malformations related to impaired fetal movement. Clinical
DE   features include fetal akinesia, intrauterine growth retardation,
DE   polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE   abnormalities, and cryptorchidism. FADS1 inheritance is autosomal
DE   recessive.
SY   Arthrogryposis multiplex congenita with pulmonary hypoplasia.
SY   FADS.
SY   Fetal akinesia deformation sequence.
SY   Fetal akinesia sequence.
SY   Pena-Shokeir syndrome type 1.
DR   MIM; 208150; phenotype.
DR   MedGen; C1276035.
DR   MeSH; D001176.
DR   MeSH; D005317.
//
ID   Fetal akinesia deformation sequence 2.
AC   DI-05535
AR   FADS2.
DE   A clinically and genetically heterogeneous group of disorders with
DE   congenital malformations related to impaired fetal movement. Clinical
DE   features include fetal akinesia, intrauterine growth retardation,
DE   polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE   abnormalities, and cryptorchidism. FADS2 inheritance is autosomal
DE   recessive.
DR   MIM; 618388; phenotype.
DR   MedGen; CN258279.
DR   MeSH; D001176.
DR   MeSH; D005317.
//
ID   Fetal akinesia deformation sequence 3.
AC   DI-05536
AR   FADS3.
DE   A clinically and genetically heterogeneous group of disorders with
DE   congenital malformations related to impaired fetal movement. Clinical
DE   features include fetal akinesia, intrauterine growth retardation,
DE   polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE   abnormalities, and cryptorchidism. FADS3 inheritance is autosomal
DE   recessive.
DR   MIM; 618389; phenotype.
DR   MedGen; CN258277.
DR   MeSH; D001176.
DR   MeSH; D005317.
//
ID   Fetal akinesia deformation sequence 4.
AC   DI-05537
AR   FADS4.
DE   A clinically and genetically heterogeneous group of disorders with
DE   congenital malformations related to impaired fetal movement. Clinical
DE   features include fetal akinesia, intrauterine growth retardation,
DE   polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial
DE   abnormalities, and cryptorchidism. FADS4 inheritance is autosomal
DE   recessive.
DR   MIM; 618393; phenotype.
DR   MedGen; CN258290.
DR   MeSH; D001176.
DR   MeSH; D005317.
//
ID   Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies.
AC   DI-06263
AR   FARIMPD.
DE   An autosomal recessive disease characterized by fetal akinesia, and
DE   generalized joint contractures and arthrogryposis at birth. Affected
DE   newborns have severe respiratory insufficiency and significant
DE   dysmorphic facial features. Malformations of cortical development are
DE   seen on brain imaging, most commonly polymicrogyria or other gyral
DE   anomalies. Death usually occurs in infancy.
DR   MIM; 619602; phenotype.
DR   MedGen; CN301231.
DR   MeSH; D000013.
//
ID   FG syndrome 2.
AC   DI-01616
AR   FGS2.
DE   FG syndrome (FGS) is an X-linked disorder characterized by
DE   intellectual disability, relative macrocephaly, hypotonia and
DE   constipation.
DR   MIM; 300321; phenotype.
DR   MedGen; C1845902.
//
ID   FG syndrome 4.
AC   DI-01617
AR   FGS4.
DE   FG syndrome (FGS) is an X-linked disorder characterized by
DE   intellectual disability, relative macrocephaly, hypotonia and
DE   constipation.
DR   MIM; 300422; phenotype.
DR   MedGen; C1845546.
DR   MedGen; C3275356.
//
ID   Fibrochondrogenesis 1.
AC   DI-03132
AR   FBCG1.
DE   A severe short-limbed skeletal dysplasia characterized by broad long-
DE   bone metaphyses, pear-shaped vertebral bodies, and characteristic
DE   morphology of the growth plate, in which the chondrocytes have a
DE   fibroblastic appearance and there are regions of fibrous cartilage
DE   extracellular matrix. Clinical features include a flat midface with a
DE   small nose and anteverted nares, significant shortening of all limb
DE   segments but relatively normal hands and feet, and a small bell-shaped
DE   thorax with a protuberant abdomen.
DR   MIM; 228520; phenotype.
DR   MedGen; C0265282.
DR   MedGen; C3278138.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Fibrochondrogenesis 2.
AC   DI-03400
AR   FBCG2.
DE   A severe skeletal dysplasia characterized by a flat midface, short
DE   long bones, short ribs with broad metaphyses, and vertebral bodies
DE   that show distinctive hypoplastic posterior ends and rounded anterior
DE   ends, giving the vertebral bodies a pinched appearance on lateral
DE   radiographic views. The chest is small, causing perinatal respiratory
DE   problems which usually, but not always, result in lethality. Affected
DE   individuals who survive the neonatal period have high myopia, mild to
DE   moderate hearing loss, and severe skeletal dysplasia.
DR   MIM; 614524; phenotype.
DR   MedGen; C3281128.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Fibrodysplasia ossificans progressiva.
AC   DI-00499
AR   FOP.
DE   A rare autosomal dominant connective tissue disorder resulting in
DE   skeletal malformations and progressive extraskeletal ossification.
DE   Heterotopic ossification begins in childhood and can be induced by
DE   trauma or may occur without warning. Bone formation is episodic and
DE   progressive, leading to a debilitating ankylosis of all major joints
DE   of the axial and appendicular skeleton, rendering movement impossible.
SY   Man of stone.
SY   Myositis ossificans.
SY   Myositis ossificans progressive.
DR   MIM; 135100; phenotype.
DR   MedGen; C0016037.
DR   MeSH; D009221.
//
ID   Fibromatosis, gingival, 1.
AC   DI-01662
AR   GINGF1.
DE   A form of hereditary gingival fibromatosis, a rare condition
DE   characterized by a slow, progressive overgrowth of the gingiva. The
DE   excess gingival tissue can cover part of or the entire crown, and can
DE   result in diastemas, teeth displacement, or retention of primary or
DE   impacted teeth. GINGF1 is usually transmitted as an autosomal dominant
DE   trait, although sporadic cases are common.
SY   Fibromatosis, gingival, hereditary.
SY   GGF1.
SY   GINGF.
SY   Hereditary gingival fibromatosis.
SY   HGF.
DR   MIM; 135300; phenotype.
DR   MedGen; C0399440.
DR   MeSH; D005351.
//
ID   Fibromatosis, gingival, 5.
AC   DI-05072
AR   GINGF5.
DE   An autosomal dominant form of hereditary gingival fibromatosis, a rare
DE   condition characterized by a slow, progressive overgrowth of the
DE   gingiva. The excess gingival tissue can cover part of or the entire
DE   crown, and can result in diastemas, teeth displacement, or retention
DE   of primary or impacted teeth.
SY   Fibromatosis, gingival, hereditary, 5.
SY   GGF5.
SY   HGF5.
DR   MIM; 617626; phenotype.
DR   MedGen; CN399090.
DR   MeSH; D005351.
//
ID   Fibromuscular dysplasia, multifocal.
AC   DI-06112
AR   FMDMF.
DE   An autosomal dominant vascular disorder with incomplete penetrance,
DE   characterized by fibrous tissue and webs developing in the artery wall
DE   and leading to multiple arterial stenoses. Patients with multifocal
DE   fibromuscular dysplasia can develop arterial tortuosity,
DE   macroaneurysms, and dissections. Arterial rupture may occur.
DR   MIM; 619329; phenotype.
DR   MedGen; CN296779.
DR   MeSH; D005352.
//
ID   Fibrosis of extraocular muscles, congenital, 1.
AC   DI-00352
AR   CFEOM1.
DE   A congenital ocular motility disorder marked by restrictive
DE   ophthalmoplegia affecting extraocular muscles innervated by the
DE   oculomotor and/or trochlear nerves. It is clinically characterized by
DE   anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE   the head. Patients affected by congenital fibrosis of extraocular
DE   muscles type 1 show an absence of the superior division of the
DE   oculomotor nerve (cranial nerve III) and corresponding oculomotor
DE   subnuclei.
SY   Blepharoptosis with absent eye movements.
SY   Congenital ophthalmoplegia.
SY   FEOM1.
DR   MIM; 135700; phenotype.
DR   MedGen; C1851102.
DR   MedGen; C2751105.
DR   MeSH; D005355.
DR   MeSH; D009886.
//
ID   Fibrosis of extraocular muscles, congenital, 2.
AC   DI-00353
AR   CFEOM2.
DE   A congenital ocular motility disorder marked by restrictive
DE   ophthalmoplegia affecting extraocular muscles innervated by the
DE   oculomotor and/or trochlear nerves. It is clinically characterized by
DE   anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE   the head. Congenital fibrosis of extraocular muscles type 2 may result
DE   from the defective development of the oculomotor (nIII), trochlear
DE   (nIV) and abducens (nVI) cranial nerve nuclei.
SY   Congenital fibrosis of extraocular muscles autosomal recessive.
SY   Exotropic strabismus fixus.
SY   FEOM2.
DR   MIM; 602078; phenotype.
DR   MedGen; C1865915.
DR   MeSH; D005355.
DR   MeSH; D009886.
//
ID   Fibrosis of extraocular muscles, congenital, 3A.
AC   DI-02509
AR   CFEOM3A.
DE   A congenital ocular motility disorder marked by restrictive
DE   ophthalmoplegia affecting extraocular muscles innervated by the
DE   oculomotor and/or trochlear nerves. It is clinically characterized by
DE   anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE   the head. Congenital fibrosis of extraocular muscles type 3 presents
DE   as a non-progressive, autosomal dominant disorder with variable
DE   expression. Patients may be bilaterally or unilaterally affected, and
DE   their oculo-motility defects range from complete ophthalmoplegia (with
DE   the eyes fixed in a hypo- and exotropic position), to mild
DE   asymptomatic restrictions of ocular movement. Ptosis, refractive
DE   error, amblyopia, and compensatory head positions are associated with
DE   the more severe forms of the disorder. In some cases, the ocular
DE   phenotype is accompanied by additional features including
DE   developmental delay, corpus callosum agenesis, basal ganglia
DE   dysmorphism, facial weakness, polyneuropathy.
SY   Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement.
SY   FEOM3.
SY   TUBB3 syndrome.
DR   MIM; 600638; phenotype.
DR   MedGen; C2748801.
DR   MeSH; D005355.
DR   MeSH; D009886.
//
ID   Fibrosis of extraocular muscles, congenital, 3B.
AC   DI-04509
AR   CFEOM3B.
DE   A congenital ocular motility disorder marked by restrictive
DE   ophthalmoplegia affecting extraocular muscles innervated by the
DE   oculomotor and/or trochlear nerves. It is clinically characterized by
DE   anchoring of the eyes in downward gaze, ptosis, and backward tilt of
DE   the head. Congenital fibrosis of extraocular muscles type 3 presents
DE   as a non-progressive, autosomal dominant disorder with variable
DE   expression. Patients may be bilaterally or unilaterally affected, and
DE   their oculo-motility defects range from complete ophthalmoplegia (with
DE   the eyes fixed in a hypo- and exotropic position), to mild
DE   asymptomatic restrictions of ocular movement. Ptosis, refractive
DE   error, amblyopia, and compensatory head positions are associated with
DE   the more severe forms of the disorder. In some cases, the ocular
DE   phenotype is accompanied by additional features including
DE   developmental delay, corpus callosum agenesis, basal ganglia
DE   dysmorphism, facial weakness, polyneuropathy.
DR   MIM; 135700; phenotype.
DR   MedGen; C2751105.
DR   MeSH; D005355.
DR   MeSH; D009886.
//
ID   Fibrosis of extraocular muscles, congenital, 5.
AC   DI-04337
AR   CFEOM5.
DE   An ocular motility disorder characterized by congenital dysinnervation
DE   of various cranial nerves to ocular muscles. Clinical features are
DE   ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and
DE   backward tilt of the head.
DR   MIM; 616219; phenotype.
DR   MedGen; CN225924.
DR   MeSH; D005355.
DR   MeSH; D009886.
//
ID   Fibrosis, neurodegeneration, and cerebral angiomatosis.
AC   DI-05458
AR   FINCA.
DE   An autosomal recessive, early-onset and fatal disorder clinically
DE   characterized by progressive cerebropulmonary symptoms, malabsorption,
DE   progressive growth failure, recurrent infections, chronic hemolytic
DE   anemia and transient liver dysfunction. Death occurs in the first
DE   years of life due to respiratory failure. Post-mortem
DE   neuropathological examination reveals increased angiomatosis-like
DE   leptomeningeal, cortical and superficial white matter vascularisation
DE   and congestion, vacuolar degeneration and myelin loss in white matter,
DE   as well as neuronal degeneration. Interstitial fibrosis and granuloma-
DE   like lesions are observed in the lungs. Hepatomegaly, steatosis and
DE   collagen accumulation are detected in the liver.
SY   FINCA syndrome.
DR   MIM; 618278; phenotype.
DR   MedGen; CN258103.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Ficolin 3 deficiency.
AC   DI-03103
AR   FCN3D.
DE   A disorder characterized by immunodeficiency, recurrent infections,
DE   brain abscesses and recurrent warts on the fingers. Affected
DE   individuals have normal levels of lymphocytes, normal T-cell
DE   responses, and normal antibodies, but a selective deficient antibody
DE   response to pneumococcal polysaccharide vaccine.
SY   Defect in lectin complement activation pathway, 3.
SY   FCN3 deficiency.
SY   Immunodeficiency due to ficolin 3 deficiency.
SY   LCAPD3.
DR   MIM; 613860; phenotype.
DR   MedGen; C3151226.
DR   MeSH; D007153.
//
ID   Filippi syndrome.
AC   DI-04307
AR   FLPIS.
DE   A rare disorder characterized by microcephaly, pre- and postnatal
DE   growth failure, syndactyly, and distinctive facial features, including
DE   a broad nasal bridge and underdeveloped alae nasi. Some affected
DE   individuals have intellectual disability, seizures, undescended
DE   testicles in males, and teeth and hair abnormalities.
DR   MIM; 272440; phenotype.
DR   MedGen; C0795940.
DR   MeSH; D006130.
DR   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D013576.
DR   MeSH; D019066.
KW   KW-0991:Intellectual disability.
//
ID   Fish-eye disease.
AC   DI-00500
AR   FED.
DE   A disorder of lipoprotein metabolism due to partial lecithin-
DE   cholesterol acyltransferase deficiency that affects only alpha-LCAT
DE   activity. FED is characterized by low plasma HDL and corneal opacities
DE   due to accumulation of cholesterol deposits in the cornea ('fish-
DE   eye').
SY   Alpha-LCAT deficiency.
SY   Dyslipoproteinemic corneal dystrophy.
DR   MIM; 136120; phenotype.
DR   MedGen; C0342895.
DR   MeSH; D007863.
//
ID   Fleck retina, familial benign.
AC   DI-03359
AR   FRFB.
DE   An autosomal recessive condition associated with a distinctive retinal
DE   appearance and no apparent visual or electrophysiologic deficits.
DE   Affected individuals are asymptomatic, but fundus examination reveals
DE   a striking pattern of diffuse, yellow-white, fleck-like lesions
DE   extending to the far periphery of the retina but sparing the foveal
DE   region.
DR   MIM; 228980; phenotype.
DR   MedGen; C1856718.
DR   MeSH; D012164.
//
ID   Fliedner-Zweier syndrome.
AC   DI-06763
AR   FZS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   variable features including mild intellectual disability, seizures,
DE   behavioral abnormalities, and various skeletal and structural
DE   anomalies.
DR   MIM; 620511; phenotype.
DR   MedGen; CN375328.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Floating-Harbor syndrome.
AC   DI-03389
AR   FLHS.
DE   A rare genetic disorder characterized by proportionate short stature,
DE   delayed bone age, delayed speech development, and typical facial
DE   features. The face is triangular with deep-set eyes, long eyelashes,
DE   bulbous nose, wide columella, short philtrum, and thin lips.
DR   MIM; 136140; phenotype.
DR   MedGen; C0729582.
DR   MeSH; D000015.
//
ID   Focal cortical dysplasia 2.
AC   DI-04980
AR   FCORD2.
DE   A form of focal cortical dysplasia, a malformation of cortical
DE   development that results in medically refractory epilepsy in the
DE   pediatric population and in adults. FCORD2 is a severe form, with
DE   onset usually in childhood, characterized by disrupted cortical
DE   lamination and specific cytological abnormalities. It is classified in
DE   2 subtypes: type IIA characterized by dysmorphic neurons and lack of
DE   balloon cells; type IIB with dysmorphic neurons and balloon cells.
SY   CDT.
SY   CDTBC.
SY   CDTD.
SY   Cortical dysplasia of Taylor.
SY   Cortical dysplasia of Taylor, dysplasia only.
SY   Cortical dysplasia of Taylor with balloon cells.
SY   Cortical dysplasia of Taylor without balloon cells.
SY   FCD2.
SY   FCD IIA.
SY   FCD IIB.
SY   FCDT.
SY   FCORD2A.
SY   FCORD2B.
SY   Focal cortical dysplasia, type II.
SY   Focal cortical dysplasia, type IIA.
SY   Focal cortical dysplasia, type IIB.
SY   Focal cortical dysplasia of Taylor.
SY   Focal cortical dysplasia type 2.
DR   MIM; 607341; phenotype.
DR   MedGen; C1846385.
DR   MeSH; D001927.
KW   KW-0887:Epilepsy.
//
ID   Focal cortical dysplasia of Taylor balloon cell type.
AC   DI-01618
AR   FCDBC.
DE   Subtype of cortical dysplasias linked to chronic intractable epilepsy.
DE   Cortical dysplasias display a broad spectrum of structural changes,
DE   which appear to result from changes in proliferation, migration,
DE   differentiation, and apoptosis of neuronal precursors and neurons
DE   during cortical development.
DR   MIM; 607341; phenotype.
DR   MedGen; C1846385.
DR   MedGen; C1846386.
DR   MedGen; C1846388.
DR   MedGen; C1846389.
//
ID   Focal dermal hypoplasia.
AC   DI-01619
AR   FODH.
DE   A rare congenital ectomesodermal disorder characterized by a
DE   combination of skin defects, skeletal abnormalities, and ocular
DE   anomalies. Affected individuals have patchy dermal hypoplasia, often
DE   in a distribution pattern following the Blaschko lines, and areas of
DE   subcutaneous fat herniation or deposition of fat into the dermis. In
DE   addition, sparse and brittle hair, hypoplastic nails and papillomas
DE   have been described. Skeletal abnormalities usually comprise
DE   syndactyly, ectrodactyly, and brachydactyly, and in some cases
DE   osteopathia striata has been seen. Patients frequently have ocular
DE   anomalies, including microphthalmia/ anophthalmia, coloboma,
DE   pigmentary and vascularization defects of the retina. Dental
DE   abnormalities are often present.
SY   DHOF.
SY   FDH.
SY   Goltz Gorlin syndrome.
SY   Goltz-Gorlin syndrome.
SY   Goltz syndrome.
DR   MIM; 305600; phenotype.
DR   MedGen; C0016395.
DR   MeSH; D005489.
//
ID   Focal facial dermal dysplasia 3, Setleis type.
AC   DI-03079
AR   FFDD3.
DE   A form of focal facial dermal dysplasia, a group of developmental
DE   defects characterized by bitemporal or preauricular skin lesions
DE   resembling aplasia cutis congenita. FFDD3 is characterized by
DE   distinctive bitemporal scar-like depressions resembling forceps marks,
DE   and additional facial features, including a coarse and leonine
DE   appearance, absent eyelashes on both lids or multiple rows on the
DE   upper lids, absent Meibomian glands, slanted eyebrows, chin clefting,
DE   and hypo- or hyperpigmentation of the skin. Histologically, the
DE   bitemporal lesion is an ectodermal dysplasia with near absence of
DE   subcutaneous fat, suggesting insufficient migration of neural crest
DE   cells into the frontonasal process and the first branchial arch.
SY   Bitemporal forceps marks syndrome.
SY   Facial ectodermal dysplasia.
SY   FFDD type II.
SY   FFDD type III.
SY   Focal facial dermal dysplasia type II.
SY   Focal facial dermal dysplasia type III.
SY   Setleis syndrome.
DR   MIM; 227260; phenotype.
DR   MedGen; C1744559.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Focal facial dermal dysplasia 4.
AC   DI-03636
AR   FFDD4.
DE   A form of focal facial dermal dysplasia, a group of developmental
DE   defects characterized by bitemporal or preauricular skin lesions
DE   resembling aplasia cutis congenita. Skin defects occur at the sites of
DE   facial fusion during embryogenesis, with temporal lesions situated at
DE   the junction between the frontonasal and maxillary facial prominences,
DE   and preauricular lesions at the meeting point of the maxillary and
DE   mandibular prominences. The ectodermal lesions show consistent
DE   histologic abnormalities: atrophy and flattening of the epidermis,
DE   replacement of the dermis by loose connective tissue, reduced levels
DE   of fragmented elastic tissue and absence of the subcutaneous tissues
DE   and adnexal structures. FFDD4 is characterized by isolated,
DE   preauricular skin lesions.
SY   FFDD type IV.
SY   Focal facial dermal dysplasia type IV.
DR   MIM; 614974; phenotype.
DR   MedGen; C3554246.
DR   MedGen; CN162978.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Focal segmental glomerulosclerosis 1.
AC   DI-01620
AR   FSGS1.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 603278; phenotype.
DR   MedGen; C0017668.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 10.
AC   DI-05975
AR   FSGS10.
DE   An autosomal dominant form of focal segmental glomerulosclerosis, a
DE   renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
SY   Glomerular basement membrane disease, nail-patella syndrome type.
SY   Nail-patella-like renal disease.
SY   NPLRD.
DR   MIM; 256020; phenotype.
DR   MedGen; C0403548.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 2.
AC   DI-01621
AR   FSGS2.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 603965; phenotype.
DR   MedGen; C1858915.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 3.
AC   DI-01622
AR   FSGS3.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 607832; phenotype.
DR   MedGen; C1842982.
DR   MedGen; CN068928.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 4.
AC   DI-02864
AR   FSGS4.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 612551; phenotype.
DR   MedGen; C2675525.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 5.
AC   DI-02556
AR   FSGS5.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 613237; phenotype.
DR   MedGen; C2750475.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 6.
AC   DI-03188
AR   FSGS6.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation. FSGS6 is
DE   a childhood-onset disorder resulting in nephrotic syndrome, which
DE   includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and
DE   edema.
DR   MIM; 614131; phenotype.
DR   MedGen; C3279905.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 7.
AC   DI-04217
AR   FSGS7.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 616002; phenotype.
DR   MedGen; CN219277.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 8.
AC   DI-04233
AR   FSGS8.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
DR   MIM; 616032; phenotype.
DR   MedGen; CN219578.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis 9.
AC   DI-04326
AR   FSGS9.
DE   A renal pathology defined by the presence of segmental sclerosis in
DE   glomeruli and resulting in proteinuria, reduced glomerular filtration
DE   rate and progressive decline in renal function. Renal insufficiency
DE   often progresses to end-stage renal disease, a highly morbid state
DE   requiring either dialysis therapy or kidney transplantation.
SY   Glomerulosclerosis, focal segmental, 9.
DR   MIM; 616220; phenotype.
DR   MedGen; CN225927.
DR   MeSH; D005923.
//
ID   Focal segmental glomerulosclerosis and neurodevelopmental syndrome.
AC   DI-06177
AR   FSGSNEDS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay associated with variable features of focal segmental
DE   glomerulosclerosis, a renal pathology defined by the presence of
DE   segmental sclerosis in glomeruli and resulting in proteinuria, reduced
DE   glomerular filtration rate and progressive decline in renal function.
DE   Some patients have transient proteinuria and others require renal
DE   transplant. Neurodevelopmental features are also variable, with some
DE   patients having only mildly impaired intellectual development, and
DE   others having a severe developmental disorder associated with early-
DE   onset refractory seizures or epileptic encephalopathy. Additional
DE   features, including feeding difficulties, poor overall growth, and
DE   non-specific dysmorphic facial features, are commonly observed.
DR   MIM; 619428; phenotype.
DR   MedGen; CN301126.
DR   MeSH; D005923.
DR   MeSH; D065886.
//
ID   Fontaine progeroid syndrome.
AC   DI-05183
AR   FPS.
DE   An autosomal dominant progeroid disorder characterized by prenatal and
DE   postnatal growth retardation, decreased subcutaneous fat tissue,
DE   wrinkled skin, an aged appearance since birth, an abnormal scalp hair
DE   pattern, sparse hair, hypoplastic distal phalanges with hypoplastic
DE   nails, a widely open anterior fontanel, facial dysmorphisms, and
DE   craniosynostosis. Early death is observed in some patients.
SY   Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence.
SY   GCMS.
SY   Gorlin-Chaudhry-Moss syndrome.
SY   Progeroid syndrome, congenital, Petty type.
DR   MIM; 612289; phenotype.
DR   MedGen; C2676780.
DR   MeSH; D000015.
DR   MeSH; D019588.
//
ID   Foveal hypoplasia 1.
AC   DI-01624
AR   FVH1.
DE   An isolated form of foveal hypoplasia, a developmental defect of the
DE   eye defined as the lack of foveal depression with continuity of all
DE   neurosensory retinal layers in the presumed foveal area. Clinical
DE   features include absence of foveal pit on optical coherence
DE   tomography, absence of foveal hyperpigmentation, absence of foveal
DE   avascularity, absence of foveal and macular reflexes, decreased visual
DE   acuity, and nystagmus. Anterior segment anomalies and cataract are
DE   observed in some FVH1 patients.
SY   Foveal hypoplasia and presenile cataract syndrome.
SY   Foveal hypoplasia with or without anterior segment anomalies and/or cataract.
DR   MIM; 136520; phenotype.
DR   MedGen; C1850994.
DR   MedGen; C2931644.
DR   MedGen; C3805604.
DR   MeSH; D015785.
//
ID   Foveal hypoplasia 2.
AC   DI-04048
AR   FVH2.
DE   An isolated form of foveal hypoplasia, a developmental defect of the
DE   eye defined as the lack of foveal depression with continuity of all
DE   neurosensory retinal layers in the presumed foveal area. Clinical
DE   features include absence of foveal pit on optical coherence
DE   tomography, absence of foveal hyperpigmentation, absence of foveal
DE   avascularity, absence of foveal and macular reflexes, decreased visual
DE   acuity, and nystagmus. Optic nerve misrouting and anterior segment
DE   dysgenesis are observed in some FVH2 patients.
SY   FHONDA.
SY   Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism.
SY   Foveal hypoplasia and anterior segment dysgenesis.
SY   Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.
DR   MIM; 609218; phenotype.
DR   MedGen; C1836603.
DR   MeSH; D015785.
//
ID   Fragile X syndrome.
AC   DI-01625
AR   FXS.
DE   An X-linked dominant disease characterized by moderate to severe
DE   intellectual disability, macroorchidism (enlargement of the
DE   testicles), large ears, prominent jaw, and high-pitched, jocular
DE   speech. The defect in most patients results from an amplification of a
DE   CGG repeat region in the FMR1 gene and abnormal methylation.
SY   Marker X syndrome.
SY   Martin-Bell syndrome.
DR   MIM; 300624; phenotype.
DR   MedGen; C0016667.
DR   MeSH; D005600.
KW   KW-0991:Intellectual disability.
//
ID   Fragile X tremor/ataxia syndrome.
AC   DI-01626
AR   FXTAS.
DE   An X-linked neurodegenerative disorder characterized by late-onset,
DE   progressive cerebellar ataxia and intention tremor followed by
DE   cognitive decline.
DR   MIM; 300623; phenotype.
DR   MedGen; C1839780.
DR   MeSH; D038901.
KW   KW-0523:Neurodegeneration.
//
ID   Frank-Ter Haar syndrome.
AC   DI-02812
AR   FTHS.
DE   A syndrome characterized by brachycephaly, wide fontanels, prominent
DE   forehead, hypertelorism, prominent eyes, macrocornea with or without
DE   glaucoma, full cheeks, small chin, bowing of the long bones and
DE   flexion deformity of the fingers.
SY   Autosomal recessive Melnick-Needles syndrome.
SY   Borrone dermatocardioskeletal syndrome.
SY   Ter Haar syndrome.
DR   MIM; 249420; phenotype.
DR   MedGen; C1855305.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Fraser syndrome 1.
AC   DI-01627
AR   FRASRS1.
DE   A form of Fraser syndrome, an autosomal recessive disorder
DE   characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE   abnormalities including renal agenesis or hypoplasia. Additional
DE   features include abnormalities of the larynx, ear malformations, and
DE   facial abnormalities.
DR   MIM; 219000; phenotype.
DR   MedGen; C0265233.
DR   MeSH; D058497.
//
ID   Fraser syndrome 2.
AC   DI-05098
AR   FRASRS2.
DE   A form of Fraser syndrome, an autosomal recessive disorder
DE   characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE   abnormalities including renal agenesis or hypoplasia. Additional
DE   features include abnormalities of the larynx, ear malformations, and
DE   facial abnormalities.
DR   MIM; 617666; phenotype.
DR   MedGen; CN464191.
DR   MeSH; D058497.
//
ID   Fraser syndrome 3.
AC   DI-05099
AR   FRASRS3.
DE   A form of Fraser syndrome, an autosomal recessive disorder
DE   characterized by cryptophthalmos, cutaneous syndactyly, and urogenital
DE   abnormalities including renal agenesis or hypoplasia. Additional
DE   features include abnormalities of the larynx, ear malformations, and
DE   facial abnormalities.
DR   MIM; 617667; phenotype.
DR   MedGen; CN464192.
DR   MeSH; D058497.
//
ID   Frasier syndrome.
AC   DI-01628
AR   FS.
DE   Characterized by a slowly progressing nephropathy leading to renal
DE   failure in adolescence or early adulthood, male pseudohermaphroditism,
DE   and no Wilms tumor. As for histological findings of the kidneys, focal
DE   glomerular sclerosis is often observed. There is phenotypic overlap
DE   with Denys-Drash syndrome. Inheritance is autosomal dominant.
DR   MIM; 136680; phenotype.
DR   MedGen; C0950122.
//
ID   Friedreich ataxia.
AC   DI-01630
AR   FRDA.
DE   Autosomal recessive, progressive degenerative disease characterized by
DE   neurodegeneration and cardiomyopathy it is the most common inherited
DE   ataxia. The disorder is usually manifest before adolescence and is
DE   generally characterized by incoordination of limb movements,
DE   dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski
DE   sign, impairment of position and vibratory senses, scoliosis, pes
DE   cavus, and hammer toe. In most patients, FRDA is due to GAA triplet
DE   repeat expansions in the first intron of the frataxin gene. But in
DE   some cases the disease is due to mutations in the coding region.
SY   FA.
SY   FRDA1.
SY   Friedreich ataxia 1.
SY   Friedreich ataxia with retained reflexes.
DR   MIM; 229300; phenotype.
DR   MedGen; C0016719.
DR   MedGen; C1847416.
DR   MedGen; C1856689.
DR   MeSH; D005621.
//
ID   Frontometaphyseal dysplasia 1.
AC   DI-01631
AR   FMD1.
DE   An X-linked disease characterized by generalized skeletal dysplasia,
DE   deafness, and urogenital defects.
SY   FMD.
DR   MIM; 305620; phenotype.
DR   MedGen; C0265293.
DR   MeSH; D010009.
KW   KW-0209:Deafness.
//
ID   Frontometaphyseal dysplasia 2.
AC   DI-04852
AR   FMD2.
DE   A form of frontometaphyseal dysplasia, a progressive sclerosing
DE   skeletal dysplasia affecting the long bones and skull. Characteristic
DE   features include supraorbital hyperostosis, cranial hyperostosis,
DE   undermodeling of the small bones, flared metaphyses, and digital
DE   anomalies. Extra-skeletal manifestations include hearing loss, cardiac
DE   malformations, and stenosis, particularly of the upper airway and
DE   urinary tract. FMD2 inheritance is autosomal dominant.
DR   MIM; 617137; phenotype.
DR   MedGen; CN238524.
DR   MeSH; D010009.
//
ID   Frontonasal dysplasia 1.
AC   DI-02575
AR   FND1.
DE   The term frontonasal dysplasia describes an array of abnormalities
DE   affecting the eyes, forehead and nose and linked to midfacial
DE   dysraphia. The clinical picture is highly variable. Major findings
DE   include true ocular hypertelorism; broadening of the nasal root;
DE   median facial cleft affecting the nose and/or upper lip and palate;
DE   unilateral or bilateral clefting of the alae nasi; lack of formation
DE   of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE   widow's peak frontal hairline.
SY   FND.
SY   FNM.
SY   Frontonasal dysplasia.
SY   Frontonasal malformation.
SY   Frontorhiny.
SY   Median cleft syndrome.
DR   MIM; 136760; phenotype.
DR   MedGen; C1876203.
DR   MeSH; D000013.
//
ID   Frontonasal dysplasia 2.
AC   DI-02709
AR   FND2.
DE   The term frontonasal dysplasia describes an array of abnormalities
DE   affecting the eyes, forehead and nose and linked to midfacial
DE   dysraphia. The clinical picture is highly variable. Major findings
DE   include true ocular hypertelorism; broadening of the nasal root;
DE   median facial cleft affecting the nose and/or upper lip and palate;
DE   unilateral or bilateral clefting of the alae nasi; lack of formation
DE   of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE   widow's peak frontal hairline.
DR   MIM; 613451; phenotype.
DR   MedGen; C3150703.
DR   MeSH; D000013.
//
ID   Frontonasal dysplasia 3.
AC   DI-02710
AR   FND3.
DE   The term frontonasal dysplasia describes an array of abnormalities
DE   affecting the eyes, forehead and nose and linked to midfacial
DE   dysraphia. The clinical picture is highly variable. Major findings
DE   include true ocular hypertelorism; broadening of the nasal root;
DE   median facial cleft affecting the nose and/or upper lip and palate;
DE   unilateral or bilateral clefting of the alae nasi; lack of formation
DE   of the nasal tip; anterior cranium bifidum occultum; a V-shaped or
DE   widow's peak frontal hairline.
DR   MIM; 613456; phenotype.
DR   MedGen; C3150706.
DR   MeSH; D000013.
//
ID   Frontotemporal dementia.
AC   DI-01632
AR   FTD.
DE   A form of dementia characterized by pathologic finding of
DE   frontotemporal lobar degeneration, presenile dementia with behavioral
DE   changes, deterioration of cognitive capacities and loss of memory. In
DE   some cases, parkinsonian symptoms are prominent. Neuropathological
DE   changes include frontotemporal atrophy often associated with atrophy
DE   of the basal ganglia, substantia nigra, amygdala. In most cases,
DE   protein tau deposits are found in glial cells and/or neurons.
SY   DDPAC.
SY   Disinhibition-dementia-parkinsonism-amyotrophy complex.
SY   FLDEM.
SY   Frontotemporal dementia-amyotrophic lateral sclerosis.
SY   Frontotemporal dementia and parkinsonism linked to chromosome 17.
SY   Frontotemporal dementia with parkinsonism.
SY   Frontotemporal lobar degeneration.
SY   Frontotemporal lobar degeneration with TAU inclusions.
SY   Frontotemporal lobe dementia.
SY   FTD-ALS.
SY   FTDP17.
SY   FTLD.
SY   FTLD with TAU inclusions.
SY   MSTD.
SY   Multiple system tauopathy with presenile dementia.
SY   Pallidopontonigral degeneration.
SY   Pick complex.
SY   PPND.
SY   Wilhelmsen-Lynch disease.
SY   WLD.
DR   MIM; 600274; phenotype.
DR   MedGen; C0338451.
DR   MedGen; C0520716.
DR   MedGen; C0751072.
DR   MedGen; C1838313.
DR   MedGen; C2718018.
DR   MedGen; C2718305.
DR   MeSH; D057180.
KW   KW-0523:Neurodegeneration.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 1.
AC   DI-03247
AR   FTDALS1.
DE   An autosomal dominant neurodegenerative disorder characterized by
DE   adult onset of frontotemporal dementia and/or amyotrophic lateral
DE   sclerosis in an affected individual. There is high intrafamilial
DE   variation. Frontotemporal dementia is characterized by frontal and
DE   temporal lobe atrophy associated with neuronal loss, gliosis, and
DE   dementia. Patients exhibit progressive changes in social, behavioral,
DE   and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis.
SY   ALSFTD.
SY   Amyotrophic lateral sclerosis and/or frontotemporal dementia.
SY   Frontotemporal dementia and/or motor neuron disease.
SY   FTDMND.
DR   MIM; 105550; phenotype.
DR   MedGen; C1862937.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.
AC   DI-04163
AR   FTDALS2.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia is characterized
DE   by frontal and temporal lobe atrophy associated with neuronal loss,
DE   gliosis, and dementia. Patients exhibit progressive changes in social,
DE   behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis.
DR   MIM; 615911; phenotype.
DR   MedGen; CN197015.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.
AC   DI-04471
AR   FTDALS3.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia is characterized
DE   by frontal and temporal lobe atrophy associated with neuronal loss,
DE   gliosis, and dementia. Patients exhibit progressive changes in social,
DE   behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients
DE   may also develop Paget disease of bone.
DR   MIM; 616437; phenotype.
DR   MedGen; CN231386.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.
AC   DI-04472
AR   FTDALS4.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia is characterized
DE   by frontal and temporal lobe atrophy associated with neuronal loss,
DE   gliosis, and dementia. Patients exhibit progressive changes in social,
DE   behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis.
DR   MIM; 616439; phenotype.
DR   MedGen; CN231440.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 5.
AC   DI-06001
AR   FTDALS5.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia is characterized
DE   by frontal and temporal lobe atrophy associated with neuronal loss,
DE   gliosis, and dementia. Patients exhibit progressive changes in social,
DE   behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal
DE   dominant form with age-dependent penetrance. Penetrance is estimated
DE   to be 50% by age 56 and 100% by age 61.
DR   MIM; 619141; phenotype.
DR   MedGen; CN293621.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 6.
AC   DI-03119
AR   FTDALS6.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia (FTD) is
DE   characterized by frontal and temporal lobe atrophy associated with
DE   neuronal loss, gliosis, and dementia. Patients exhibit progressive
DE   changes in social, behavioral, and/or language function. Amyotrophic
DE   lateral sclerosis (ALS) is characterized by the death of motor neurons
DE   in the brain, brainstem, and spinal cord, resulting in fatal
DE   paralysis. FTDALS6 is an autosomal dominant form characterized by
DE   onset of ALS or FTD in adulthood. Some patients with the disorder may
DE   have features of both diseases.
SY   ALS14.
SY   Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.
DR   MIM; 613954; phenotype.
DR   MedGen; C3151403.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 7.
AC   DI-01633
AR   FTDALS7.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia (FTD) is
DE   characterized by frontal and temporal lobe atrophy associated with
DE   neuronal loss, gliosis, and dementia. Patients exhibit progressive
DE   changes in social, behavioral, and/or language function. Amyotrophic
DE   lateral sclerosis (ALS) is characterized by the death of motor neurons
DE   in the brain, brainstem, and spinal cord, resulting in fatal
DE   paralysis. FTDALS7 is an autosomal dominant form characterized by
DE   onset of ALS or FTD in adulthood. A few patients may have both
DE   phenotypes.
SY   ALS17.
SY   Amyotrophic lateral sclerosis, CHMP2B-related.
SY   Amyotrophic lateral sclerosis 17.
SY   Frontotemporal dementia, chromosome 3-linked.
SY   FTD3.
DR   MIM; 600795; phenotype.
DR   MedGen; C1833296.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia and/or amyotrophic lateral sclerosis 8.
AC   DI-06000
AR   FTDALS8.
DE   A neurodegenerative disorder characterized by frontotemporal dementia
DE   and/or amyotrophic lateral sclerosis in affected individuals. There is
DE   high intrafamilial variation. Frontotemporal dementia is characterized
DE   by frontal and temporal lobe atrophy associated with neuronal loss,
DE   gliosis, and dementia. Patients exhibit progressive changes in social,
DE   behavioral, and/or language function. Amyotrophic lateral sclerosis is
DE   characterized by the death of motor neurons in the brain, brainstem,
DE   and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal
DE   dominant form.
DR   MIM; 619132; phenotype.
DR   MedGen; CN293619.
DR   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Fructose-1,6-bisphosphatase deficiency.
AC   DI-01634
AR   FBP1D.
DE   An autosomal recessive metabolic disorder characterized by impaired
DE   gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis
DE   that can be lethal in newborn infants or young children.
DR   MIM; 229700; phenotype.
DR   MedGen; C0016756.
DR   MeSH; D015319.
//
ID   Fructosuria.
AC   DI-01635
AR   FRUCT.
DE   Benign defect of intermediary metabolism.
DR   MIM; 229800; phenotype.
DR   MedGen; C0268160.
//
ID   Fucosidosis.
AC   DI-00501
AR   FUCA1D.
DE   An autosomal recessive lysosomal storage disease characterized by
DE   accumulation of fucose-containing glycolipids and glycoproteins in
DE   various tissues. Clinical signs include facial dysmorphism, dysostosis
DE   multiplex, moderate hepatomegaly, severe intellectual deficit,
DE   deafness, and according to age, angiokeratomas.
SY   Alpha-L-fucosidase deficiency.
DR   MIM; 230000; phenotype.
DR   MedGen; C0016788.
DR   MeSH; D005645.
//
ID   Fuhrmann syndrome.
AC   DI-01637
AR   FUHRS.
DE   Distinct limb-malformation disorder characterized also by various
DE   degrees of limb aplasia/hypoplasia and joint dysplasia.
SY   Fibular aplasia.
SY   Hypoplasia femoral bowing and poly- syn- and oligodactyly.
DR   MIM; 228930; phenotype.
DR   MedGen; C1856728.
//
ID   Fumarase deficiency.
AC   DI-01638
AR   FMRD.
DE   A severe autosomal recessive metabolic disorder characterized by
DE   early-onset hypotonia, profound psychomotor retardation, and brain
DE   abnormalities, such as agenesis of the corpus callosum, gyral defects,
DE   and ventriculomegaly. Many patients show neonatal distress, metabolic
DE   acidosis, and/or encephalopathy.
SY   Fumaric aciduria.
DR   MIM; 606812; phenotype.
DR   MedGen; C0342770.
DR   MedGen; C2936826.
DR   MeSH; D008661.
DR   MeSH; D009123.
DR   MeSH; D011596.
//
ID   Fundus albipunctatus.
AC   DI-04584
AR   FALBI.
DE   A form of fleck retina disease characterized by discrete uniform white
DE   dots over the entire fundus with greatest density in the mid-periphery
DE   and no macular involvement. Night blindness occurs. Inheritance can be
DE   autosomal dominant or autosomal recessive.
SY   FA.
DR   MIM; 136880; phenotype.
DR   MedGen; C0311338.
DR   MeSH; D012164.
//
ID   Fundus flavimaculatus.
AC   DI-01640
AR   FFM.
DE   Autosomal recessive retinal disorder very similar to Stargardt
DE   disease. In contrast to Stargardt disease, FFM is characterized by
DE   later onset and slowly progressive course.
DR   MIM; 248200; phenotype.
DR   MedGen; C1858080.
//
ID   GABA transaminase deficiency.
AC   DI-01641
AR   GABATD.
DE   An enzymatic deficiency resulting in psychomotor retardation,
DE   hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG
DE   abnormalities.
DR   MIM; 613163; phenotype.
DR   MedGen; C0342708.
DR   MeSH; D000592.
//
ID   Gabriele-de Vries syndrome.
AC   DI-05032
AR   GADEVS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   delayed psychomotor development and intellectual disability. Most
DE   patients have behavioral and feeding problems, movement abnormalities,
DE   mild distal skeletal anomalies, and dysmorphic facial features.
DR   MIM; 617557; phenotype.
DR   MedGen; CN303159.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Galactosemia 1.
AC   DI-01642
AR   GALAC1.
DE   A form of galactosemia, an inborn error of galactose metabolism
DE   typically manifesting in the neonatal period, after ingestion of
DE   galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE   insufficiency, food intolerance, hypoglycemia, renal tubular
DE   dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance
DE   is autosomal recessive.
SY   Galactose-1-phosphate uridylyltransferase deficiency.
SY   Galactosemia, classic.
SY   Galactosemia, Duarte variant.
SY   Galactosemia I.
SY   GALT deficiency.
DR   MIM; 230400; phenotype.
DR   MedGen; C0268151.
DR   MedGen; C3278146.
DR   MeSH; D005693.
//
ID   Galactosemia 2.
AC   DI-01643
AR   GALAC2.
DE   A form of galactosemia, an inborn error of galactose metabolism
DE   typically manifesting in the neonatal period, after ingestion of
DE   galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE   insufficiency, food intolerance, hypoglycemia, renal tubular
DE   dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance
DE   is autosomal recessive.
SY   Galactokinase deficiency.
SY   Galactokinase deficiency with cataracts.
SY   Galactosemia II.
SY   GALK deficiency.
DR   MIM; 230200; phenotype.
DR   MedGen; C0268155.
DR   MeSH; D005693.
//
ID   Galactosemia 3.
AC   DI-01534
AR   GALAC3.
DE   A form of galactosemia, an inborn error of galactose metabolism
DE   typically manifesting in the neonatal period, after ingestion of
DE   galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE   insufficiency, food intolerance, hypoglycemia, renal tubular
DE   dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an
DE   autosomal recessive form caused by galactose epimerase deficiency. It
DE   can manifest as benign, peripheral form with mild symptoms and
DE   enzymatic deficiency in circulating blood cells only. A second form,
DE   known as generalized epimerase deficiency, is characterized by
DE   undetectable levels of enzyme activity in all tissues and severe
DE   clinical features, including restricted growth and intellectual
DE   disability.
SY   Galactose epimerase deficiency.
SY   Galactosemia III.
SY   GALE deficiency.
SY   UDP-galactose-4-epimerase deficiency.
DR   MIM; 230350; phenotype.
DR   MedGen; C0751161.
DR   MeSH; D005693.
//
ID   Galactosemia 4.
AC   DI-05839
AR   GALAC4.
DE   A form of galactosemia, an inborn error of galactose metabolism
DE   typically manifesting in the neonatal period, after ingestion of
DE   galactose, with jaundice, hepatosplenomegaly, hepatocellular
DE   insufficiency, food intolerance, hypoglycemia, renal tubular
DE   dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance
DE   is autosomal recessive.
SY   Galactosemia IV.
SY   Galactose mutarotase deficiency.
DR   MIM; 618881; phenotype.
DR   MedGen; CN280928.
DR   MeSH; D005693.
//
ID   Galactosialidosis.
AC   DI-01644
AR   GSL.
DE   A lysosomal storage disease associated with a combined deficiency of
DE   beta-galactosidase and neuraminidase, secondary to a defect in
DE   cathepsin A. All patients have clinical manifestations typical of a
DE   lysosomal disorder, such as coarse facies, cherry red spots, vertebral
DE   changes, foam cells in the bone marrow, and vacuolated lymphocytes.
DE   Three phenotypic subtypes are recognized. The early infantile form is
DE   associated with fetal hydrops, edema, ascites, visceromegaly, skeletal
DE   dysplasia, and early death. The late infantile type is characterized
DE   by hepatosplenomegaly, growth retardation, cardiac involvement, and a
DE   normal or mildly affected mental state. The juvenile/adult form is
DE   characterized by myoclonus, ataxia, angiokeratoma, intellectual
DE   disability, neurologic deterioration, absence of visceromegaly, and
DE   long survival.
SY   Cathepsin A deficiency.
SY   Goldberg syndrome.
SY   Lysosomal protective protein deficiency.
SY   Neuraminidase deficiency with beta-galactosidase deficiency.
SY   PPCA deficiency.
SY   Protective protein cathepsin A deficiency.
DR   MIM; 256540; phenotype.
DR   MedGen; C0268233.
DR   MedGen; CN068412.
DR   MedGen; CN068413.
DR   MedGen; CN068414.
DR   MeSH; D016464.
//
ID   Gallbladder disease 1.
AC   DI-01341
AR   GBD1.
DE   One of the major digestive diseases. Gallstones composed of
DE   cholesterol (cholelithiasis) are the common manifestations in western
DE   countries. Most people with gallstones, however, remain asymptomatic
DE   through their lifetimes.
SY   Cholecystitis.
SY   Cholelithiasis.
SY   Gallstones.
DR   MIM; 600803; phenotype.
DR   MedGen; C0008325.
DR   MedGen; C0008350.
DR   MedGen; C2609268.
DR   MeSH; D002764.
DR   MeSH; D042882.
//
ID   Gallbladder disease 4.
AC   DI-02886
AR   GBD4.
DE   One of the major digestive diseases. Gallstones composed of
DE   cholesterol (cholelithiasis) are the common manifestations in western
DE   countries. Most people with gallstones, however, remain asymptomatic
DE   through their lifetimes.
DR   MIM; 611465; phenotype.
DR   MedGen; C1969115.
DR   MeSH; D005705.
//
ID   Galloway-Mowat syndrome 1.
AC   DI-04306
AR   GAMOS1.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Patients
DE   may die in early childhood. GAMOS1 inheritance is autosomal recessive.
SY   CAMOS.
SY   Galloway-Mowat syndrome.
SY   Galloway syndrome.
SY   Microcephaly, hiatal hernia, and nephrotic syndrome.
SY   Nephrosis-microcephaly syndrome.
SY   Nephrosis-neuronal dysmigration syndrome.
SY   SCAR5.
SY   Spinocerebellar ataxia, autosomal recessive, 5.
DR   MIM; 251300; phenotype.
DR   MedGen; C0795949.
DR   MeSH; D006551.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 10.
AC   DI-06184
AR   GAMOS10.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, and micrognathia. Additional variable features
DE   are visual impairment and arachnodactyly. Most patients die in early
DE   childhood. GAMOS10 is an autosomal recessive form with fatal outcome.
DE   Patients manifest congenital hypothyroidism in addition to neurologic,
DE   renal and dysmorphic features.
DR   MIM; 619609; phenotype.
DR   MedGen; CN301234.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 2, X-linked.
AC   DI-05105
AR   GAMOS2.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood.
DR   MIM; 301006; phenotype.
DR   MedGen; CN570502.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 3.
AC   DI-05106
AR   GAMOS3.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood.
DR   MIM; 617729; phenotype.
DR   MedGen; CN570505.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 4.
AC   DI-05107
AR   GAMOS4.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood.
DR   MIM; 617730; phenotype.
DR   MedGen; CN570506.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 5.
AC   DI-05108
AR   GAMOS5.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood.
DR   MIM; 617731; phenotype.
DR   MedGen; CN570507.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 6.
AC   DI-05498
AR   GAMOS6.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood. GAMOS6 is an autosomal recessive form
DE   with onset in infancy or early childhood. Affected individuals
DE   manifest microcephaly, global developmental delay, variable degrees of
DE   intellectual disability, and growth deficiency. Renal impairment may
DE   be age-dependent or may not be present.
DR   MIM; 618347; phenotype.
DR   MedGen; CN258241.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 7.
AC   DI-05499
AR   GAMOS7.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood. GAMOS7 inheritance is autosomal
DE   recessive.
DR   MIM; 618348; phenotype.
DR   MedGen; CN258243.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 8.
AC   DI-05500
AR   GAMOS8.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, hypertelorism and micrognathia. Additional
DE   variable features are visual impairment and arachnodactyly. Most
DE   patients die in early childhood. GAMOS8 inheritance is autosomal
DE   recessive.
DR   MIM; 618349; phenotype.
DR   MedGen; CN258244.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Galloway-Mowat syndrome 9.
AC   DI-06183
AR   GAMOS9.
DE   A form of Galloway-Mowat syndrome, a severe renal-neurological disease
DE   characterized by early-onset nephrotic syndrome associated with
DE   microcephaly, central nervous system abnormalities, developmental
DE   delays, and a propensity for seizures. Brain anomalies include
DE   gyration defects ranging from lissencephaly to pachygyria and
DE   polymicrogyria, and cerebellar hypoplasia. Most patients show facial
DE   dysmorphism characterized by a small, narrow forehead, large/floppy
DE   ears, deep-set eyes, and micrognathia. Additional variable features
DE   are visual impairment and arachnodactyly. Most patients die in early
DE   childhood. GAMOS9 inheritance is autosomal recessive.
DR   MIM; 619603; phenotype.
DR   MedGen; CN301228.
DR   MeSH; D008831.
DR   MeSH; D009404.
DR   MeSH; D009422.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Gand syndrome.
AC   DI-03650
AR   GAND.
DE   An autosomal dominant syndrome characterized by global developmental
DE   delay with motor delay, moderate to severely impaired intellectual
DE   development, and poor speech acquisition in most patients. Additional
DE   features include hypotonia, feeding difficulties in infancy, and
DE   dysmorphic features. More variable features may include seizures,
DE   cardiac abnormalities, and non-specific findings on brain imaging.
SY   MRD18.
DR   MIM; 615074; phenotype.
DR   MedGen; C3554448.
DR   MedGen; CN165602.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   GAPO syndrome.
AC   DI-03790
AR   GAPOS.
DE   An autosomal recessive disease characterized by growth retardation,
DE   alopecia, failure of tooth eruption, and progressive optic atrophy in
DE   some patients.
SY   Growth retardation, alopecia, pseudoanodontia, and optic atrophy.
DR   MIM; 230740; phenotype.
DR   MedGen; C0406723.
DR   MeSH; D000505.
DR   MeSH; D000848.
DR   MeSH; D006130.
KW   KW-1063:Hypotrichosis.
//
ID   Gastric adenocarcinoma and proximal polyposis of the stomach.
AC   DI-06046
AR   GAPPS.
DE   A familial gastric polyposis syndrome characterized by autosomal
DE   dominant transmission of fundic gland polyposis with occasional
DE   hyperplastic and adenomatous polyps, sparing of the gastric antrum,
DE   and a significant risk of intestinal-type gastric adenocarcinoma
DE   development. Colorectal polyposis is not observed, and family history
DE   does not include colorectal cancer.
SY   Fundic gland polyposis.
SY   Polyposis, gastric.
SY   Polyposis of gastric fundus without polyposis coli.
DR   MIM; 619182; phenotype.
DR   MedGen; C4749917.
DR   MeSH; D013274.
//
ID   Gastric cancer.
AC   DI-02971
AR   GASC.
DE   A malignant disease which starts in the stomach, can spread to the
DE   esophagus or the small intestine, and can extend through the stomach
DE   wall to nearby lymph nodes and organs. It also can metastasize to
DE   other parts of the body. The term gastric cancer or gastric carcinoma
DE   refers to adenocarcinoma of the stomach that accounts for most of all
DE   gastric malignant tumors. Two main histologic types are recognized,
DE   diffuse type and intestinal type carcinomas. Diffuse tumors are poorly
DE   differentiated infiltrating lesions, resulting in thickening of the
DE   stomach. In contrast, intestinal tumors are usually exophytic, often
DE   ulcerating, and associated with intestinal metaplasia of the stomach,
DE   most often observed in sporadic disease.
SY   Gastric cancer intestinal.
SY   Stomach cancer.
DR   MIM; 613659; phenotype.
DR   MedGen; C0699791.
DR   MedGen; C3150911.
DR   MeSH; D013274.
//
ID   Gastrointestinal defects and immunodeficiency syndrome 1.
AC   DI-03733
AR   GIDID1.
DE   An autosomal recessive congenital disorder in which obstructions occur
DE   at various levels throughout the small and large intestines,
DE   ultimately leading to organ failure. Surgical interventions are
DE   palliative but do not provide long-term survival. Some patients
DE   exhibit inflammatory bowel disease (IBD), with or without intestinal
DE   atresia, and in some cases, the intestinal features are associated
DE   with either mild or severe combined immunodeficiency.
SY   Familial intestinal polyatresia syndrome.
SY   FIPA.
SY   Gastrointestinal defects and immunodeficiency syndrome.
SY   GIDID.
SY   Intestinal atresia, multiple.
SY   Intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency.
SY   MIA.
SY   MINAT.
SY   Multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency.
DR   MIM; 243150; phenotype.
DR   MedGen; C0220744.
DR   MeSH; D007409.
//
ID   Gastrointestinal defects and immunodeficiency syndrome 2.
AC   DI-06318
AR   GIDID2.
DE   A severe autosomal recessive disorder characterized by multiple
DE   intestinal atresia apparent soon after birth. Affected infants have a
DE   distended abdomen, bowel obstruction and do not pass meconium. There
DE   is some evidence of inflammatory bowel disease. Death occurs in the
DE   first weeks of life. Some patients may also have immunodeficiency.
SY   Multiple intestinal atresia with or without leukopenia.
DR   MIM; 619708; phenotype.
DR   MedGen; CN306133.
DR   MeSH; D007409.
//
ID   Gastrointestinal stromal tumor.
AC   DI-01646
AR   GIST.
DE   Common mesenchymal neoplasms arising in the gastrointestinal tract,
DE   most often in the stomach. They are histologically,
DE   immunohistochemically, and genetically different from typical
DE   leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed
DE   of a fairly uniform population of spindle-shaped cells. Some tumors
DE   are dominated by epithelioid cells or contain a mixture of spindle and
DE   epithelioid morphologies. Primary GISTs in the gastrointestinal tract
DE   commonly metastasize in the omentum and mesenteries, often as multiple
DE   nodules. However, primary tumors may also occur outside of the
DE   gastrointestinal tract, in other intra-abdominal locations, especially
DE   in the omentum and mesentery.
DR   MIM; 606764; phenotype.
DR   MedGen; C0238198.
DR   MeSH; D046152.
//
ID   Gastrointestinal ulceration, recurrent, with dysfunctional platelets.
AC   DI-05517
AR   GURDP.
DE   An autosomal recessive disorder characterized by recurrent
DE   gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic
DE   anemia, iron deficiency, and abdominal pain. Disease features also
DE   include platelet dysfunction, and globally decreased eicosanoid
DE   synthesis.
SY   Deficiency of phospholipase A2, group IVA.
DR   MIM; 618372; phenotype.
DR   MedGen; C3888207.
DR   MeSH; D008661.
DR   MeSH; D014456.
//
ID   Gaucher disease.
AC   DI-03092
AR   GD.
DE   An autosomal recessive lysosomal storage disease due to deficient
DE   activity of lysosomal beta-glucocerebrosidase, and characterized by
DE   accumulation of glucosylceramide in the reticulo-endothelial system.
DE   GD is a multisystem disease historically divided into three main
DE   subtypes on the basis of the presence of neurologic involvement, age
DE   at onset and progression rate: type 1 is the non-neuropathic form,
DE   type 2 is the acute neuropathic form with early onset and rapid
DE   neurologic deterioration, type 3 is the chronic neuropathic form with
DE   slow progression of neurologic features. GD shows a marked phenotypic
DE   diversity ranging from adult asymptomatic forms, at the mild end, to
DE   perinatal lethal forms at the severe end of the disease spectrum.
DE   Formal diagnosis of Gaucher disease is based on the measurement of
DE   glucocerebrosidase levels in circulating leukocytes and molecular
DE   genetic analysis.
SY   Acid beta-glucosidase deficiency.
SY   GBA deficiency.
SY   Glucocerebrosidase deficiency.
DR   MIM; 230800; phenotype.
DR   MedGen; C0017205.
DR   MeSH; D005776.
//
ID   Gaucher disease 1.
AC   DI-01647
AR   GD1.
DE   A form of Gaucher disease, an autosomal recessive lysosomal storage
DE   disease due to deficient activity of lysosomal beta-
DE   glucocerebrosidase, and characterized by accumulation of
DE   glucosylceramide in the reticulo-endothelial system. GD1 is
DE   characterized by hepatosplenomegaly with consequent anemia and
DE   thrombopenia, and bone involvement. The central nervous system is not
DE   involved.
SY   Adult non-neuronopathic Gaucher disease.
SY   Gaucher disease type I.
SY   GD I.
SY   Noncerebral juvenile Gaucher disease.
DR   MIM; 230800; phenotype.
DR   MedGen; C1961835.
DR   MeSH; D005776.
//
ID   Gaucher disease 2.
AC   DI-01648
AR   GD2.
DE   The most severe form of Gaucher disease, an autosomal recessive
DE   lysosomal storage disease due to deficient activity of lysosomal beta-
DE   glucocerebrosidase, and characterized by accumulation of
DE   glucosylceramide in the reticulo-endothelial system. GD2 is an acute
DE   neuronopathic form that manifests soon after birth, with death
DE   generally occurring before patients reach two years of age. Clinical
DE   features include hepatosplenomegaly, developmental regression, growth
DE   arrest, and rapidly progressing neurologic deterioration.
SY   Acute neuronopathic Gaucher disease.
SY   Gaucher disease type II.
SY   GD II.
DR   MIM; 230900; phenotype.
DR   MedGen; C0268250.
DR   MeSH; D005776.
//
ID   Gaucher disease 3.
AC   DI-01649
AR   GD3.
DE   A form of Gaucher disease, an autosomal recessive lysosomal storage
DE   disease due to deficient activity of lysosomal beta-
DE   glucocerebrosidase, and characterized by accumulation of
DE   glucosylceramide in the reticulo-endothelial system. GD3 is a subacute
DE   neuronopathic form characterized by later onset and slower progression
DE   compared to Gaucher disease 2.
SY   Cerebral, juvenile and adult, Gaucher disease.
SY   Gaucher disease chronic neuronopathic type.
SY   Gaucher disease type II.
SY   GD III.
SY   Subacute neuronopathic Gaucher disease.
DR   MIM; 231000; phenotype.
DR   MedGen; C0268251.
DR   MedGen; C1856491.
DR   MedGen; C1856492.
DR   MedGen; C1856493.
DR   MeSH; D005776.
//
ID   Gaucher disease 3C.
AC   DI-01650
AR   GD3C.
DE   A variant of subacute neuronopathic Gaucher disease 3 associated with
DE   cardiovascular calcifications.
SY   Gaucher-like disease.
SY   Pseudo-Gaucher disease.
DR   MIM; 231005; phenotype.
DR   MedGen; C1856476.
DR   MeSH; D005776.
//
ID   Gaucher disease perinatal lethal.
AC   DI-02151
AR   GDPL.
DE   Distinct form of Gaucher disease type 2, characterized by fetal onset.
DE   Hydrops fetalis, in utero fetal death and neonatal distress are
DE   prominent features. When hydrops is absent, neurologic involvement
DE   begins in the first week and leads to death within 3 months.
DE   Hepatosplenomegaly is a major sign, and is associated with ichthyosis,
DE   arthrogryposis, and facial dysmorphism.
DR   MIM; 608013; phenotype.
DR   MedGen; C1842704.
//
ID   Gaucher disease, atypical, due to saposin C deficiency.
AC   DI-01196
AR   GDSAPC.
DE   A disease characterized by marked glucosylceramide accumulation in the
DE   spleen without having a deficiency of glucosylceramide-beta
DE   glucosidase characteristic of classic Gaucher disease. Gaucher disease
DE   is a lysosomal storage disorder characterized by skeletal
DE   deterioration, hepatosplenomegaly, and organ dysfunction. There are
DE   several subtypes based on the presence and severity of neurological
DE   involvement.
DR   MIM; 610539; phenotype.
DR   MedGen; C1864651.
DR   MeSH; D005776.
//
ID   Gaze palsy, familial horizontal, with progressive scoliosis, 1.
AC   DI-01576
AR   HGPPS1.
DE   An autosomal recessive neurologic disorder characterized by eye
DE   movement abnormalities apparent from birth, childhood-onset
DE   progressive scoliosis, distinctive brainstem malformation and
DE   defective crossing of some brainstem neuronal pathways.
SY   Familial horizontal gaze palsy with progressive scoliosis.
SY   HGPPS.
DR   MIM; 607313; phenotype.
DR   MedGen; C1846496.
DR   MeSH; D012600.
DR   MeSH; D015835.
//
ID   Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.
AC   DI-05031
AR   HGPPS2.
DE   An autosomal recessive neurologic disorder characterized by global
DE   developmental delay, delayed walking, intellectual disability,
DE   horizontal gaze palsy, and childhood-onset progressive scoliosis.
DR   MIM; 617542; phenotype.
DR   MedGen; CN292981.
DR   MeSH; D012600.
DR   MeSH; D015835.
KW   KW-0991:Intellectual disability.
//
ID   Geleophysic dysplasia 1.
AC   DI-01652
AR   GPHYSD1.
DE   An autosomal recessive disorder characterized by severe short stature,
DE   short hands and feet, joint limitations, and skin thickening.
DE   Radiologic features include delayed bone age, cone-shaped epiphyses,
DE   shortened long tubular bones, and ovoid vertebral bodies. Affected
DE   individuals have characteristic facial features including a 'happy'
DE   face with full cheeks, shortened nose, hypertelorism, long and flat
DE   philtrum, and thin upper lip. Other distinctive features include
DE   progressive cardiac valvular thickening often leading to an early
DE   death, toe walking, tracheal stenosis, respiratory insufficiency, and
DE   lysosomal-like storage vacuoles in various tissues.
SY   Geleophysic dwarfism.
DR   MIM; 231050; phenotype.
DR   MedGen; C3278147.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Geleophysic dysplasia 2.
AC   DI-03224
AR   GPHYSD2.
DE   An autosomal dominant disorder characterized by severe short stature,
DE   short hands and feet, joint limitations, and skin thickening.
DE   Radiologic features include delayed bone age, cone-shaped epiphyses,
DE   shortened long tubular bones, and ovoid vertebral bodies. Affected
DE   individuals have characteristic facial features including a 'happy'
DE   face with full cheeks, shortened nose, hypertelorism, long and flat
DE   philtrum, and thin upper lip. Other distinctive features include
DE   progressive cardiac valvular thickening often leading to an early
DE   death, toe walking, tracheal stenosis, respiratory insufficiency, and
DE   lysosomal-like storage vacuoles in various tissues.
SY   Geleophysic dwarfism.
DR   MIM; 614185; phenotype.
DR   MedGen; C3280054.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Geleophysic dysplasia 3.
AC   DI-05159
AR   GPHYSD3.
DE   A form of geleophysic dysplasia, a rare skeletal disease characterized
DE   by severe short stature, short hands and feet, and joint limitations.
DE   Radiologic features include delayed bone age, cone-shaped epiphyses,
DE   shortened long tubular bones, and ovoid vertebral bodies. Affected
DE   individuals have characteristic facial features including a 'happy'
DE   face with full cheeks, shortened nose, hypertelorism, long and flat
DE   philtrum, and thin upper lip. Other distinctive features include skin
DE   thickening, progressive cardiac valvular thickening often leading to
DE   an early death, toe walking, tracheal stenosis, respiratory
DE   insufficiency, and lysosomal-like storage vacuoles in various tissues.
DE   GPHYSD3 inheritance is autosomal dominant.
DR   MIM; 617809; phenotype.
DR   MedGen; CN696019.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Generalized epilepsy with febrile seizures plus 1.
AC   DI-00505
AR   GEFSP1.
DE   A rare autosomal dominant, familial condition with incomplete
DE   penetrance and large intrafamilial variability. Patients display
DE   febrile seizures persisting sometimes beyond the age of 6 years and/or
DE   a variety of afebrile seizure types. This disease combines febrile
DE   seizures, generalized seizures often precipitated by fever at age 6
DE   years or more, and partial seizures, with a variable degree of
DE   severity.
SY   GEFS+ type 1.
DR   MIM; 604233; phenotype.
DR   MedGen; C1858672.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 10.
AC   DI-05599
AR   GEFSP10.
DE   An autosomal dominant neurologic disorder with incomplete penetrance,
DE   characterized by variable types of seizures including absence, tonic-
DE   clonic, febrile, focal, and eyelid myoclonia. Some patients have
DE   normal neurologic development. Others have mild-to-moderate
DE   intellectual disability or autism spectrum disorder.
SY   GEFS+, type 10.
SY   GEFS+10.
SY   Generalized epilepsy with febrile seizures plus, type 10.
DR   MIM; 618482; phenotype.
DR   MedGen; CN260572.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 2.
AC   DI-00506
AR   GEFSP2.
DE   A rare autosomal dominant, familial condition with incomplete
DE   penetrance and large intrafamilial variability. Patients display
DE   febrile seizures persisting sometimes beyond the age of 6 years and/or
DE   a variety of afebrile seizure types. This disease combines febrile
DE   seizures, generalized seizures often precipitated by fever at age 6
DE   years or more, and partial seizures, with a variable degree of
DE   severity.
SY   GEFS+2.
SY   GEFS+ type 2.
DR   MIM; 604403; phenotype.
DR   MedGen; C1858673.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 3.
AC   DI-00507
AR   GEFSP3.
DE   A rare autosomal dominant, familial condition with incomplete
DE   penetrance and large intrafamilial variability. Patients display
DE   febrile seizures persisting sometimes beyond the age of 6 years and/or
DE   a variety of afebrile seizure types. This disease combines febrile
DE   seizures, generalized seizures often precipitated by fever at age 6
DE   years or more, and partial seizures, with a variable degree of
DE   severity.
SY   GEFS+3.
SY   GEFS+ type 3.
DR   MIM; 607681; phenotype.
DR   MedGen; C1858674.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 5.
AC   DI-00508
AR   GEFSP5.
DE   A rare autosomal dominant, familial condition with incomplete
DE   penetrance and large intrafamilial variability. Patients display
DE   febrile seizures persisting sometimes beyond the age of 6 years and/or
DE   a variety of afebrile seizure types. This disease combines febrile
DE   seizures, generalized seizures often precipitated by fever at age 6
DE   years or more, and partial seizures, with a variable degree of
DE   severity.
SY   GEFS+5.
SY   GEFS+ type 5.
DR   MIM; 613060; phenotype.
DR   MedGen; C3150398.
DR   MedGen; C3150399.
DR   MedGen; C3150401.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 7.
AC   DI-02931
AR   GEFSP7.
DE   A rare autosomal dominant, familial condition with incomplete
DE   penetrance and large intrafamilial variability. Patients display
DE   febrile seizures persisting sometimes beyond the age of 6 years and/or
DE   a variety of afebrile seizure types. This disease combines febrile
DE   seizures, generalized seizures often precipitated by fever at age 6
DE   years or more, and partial seizures, with a variable degree of
DE   severity.
SY   GEFS+7.
SY   GEFS+ type 7.
DR   MIM; 613863; phenotype.
DR   MedGen; C2751777.
DR   MedGen; C2751778.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 9.
AC   DI-04300
AR   GEFSP9.
DE   An autosomal dominant neurologic disorder characterized by febrile
DE   and/or afebrile seizures manifesting in early childhood. Seizure are
DE   variable and include generalized tonic-clonic, atonic, myoclonic,
DE   complex partial, and absence types. Most patients have remission of
DE   seizures later in childhood with no residual neurologic deficits.
DE   Rarely, patients may show mild developmental delay or mild
DE   intellectual disabilities.
SY   GEFS+9.
SY   GEFS+ type 9.
SY   Generalized epilepsy with febrile seizures plus, type 9.
DR   MIM; 616172; phenotype.
DR   MedGen; CN224991.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Genitopatellar syndrome.
AC   DI-03437
AR   GTPTS.
DE   A rare disorder consisting of microcephaly, severe psychomotor
DE   retardation, and characteristic coarse facial features, including
DE   broad nose and small or retracted chin, associated with congenital
DE   flexion contractures of the lower extremities, abnormal or missing
DE   patellae, and urogenital anomalies.
DR   MIM; 606170; phenotype.
DR   MedGen; C1853566.
DR   MeSH; D000015.
//
ID   Genitourinary and/or brain malformation syndrome.
AC   DI-05791
AR   GUBS.
DE   An autosomal dominant syndrome characterized by multiple congenital
DE   anomalies including urogenital malformations and brain abnormalities
DE   ranging from agenesis of the corpus callosum to anencephaly.
DR   MIM; 618820; phenotype.
DR   MedGen; CN263373.
DR   MeSH; D001927.
DR   MeSH; D014564.
//
ID   Geroderma osteodysplasticum.
AC   DI-00509
AR   GO.
DE   A rare autosomal recessive disorder characterized by lax, wrinkled
DE   skin, joint laxity and a typical face with a prematurely aged
DE   appearance. Skeletal signs include severe osteoporosis leading to
DE   frequent fractures, malar and mandibular hypoplasia and a variable
DE   degree of growth retardation.
SY   Gerodermia osteodysplastica.
SY   Walt Disney dwarfism.
DR   MIM; 231070; phenotype.
DR   MedGen; C0432255.
DR   MeSH; D004392.
DR   MeSH; D012873.
KW   KW-0242:Dwarfism.
//
ID   Gerstmann-Straussler disease.
AC   DI-01656
AR   GSD.
DE   A rare inherited prion disease characterized by adult onset of memory
DE   loss, dementia, ataxia, and pathologic deposition of amyloid-like
DE   plaques in the brain. GSD presents with progressive limb and truncal
DE   ataxia, dysarthria, and cognitive decline in the thirties and forties,
DE   and the average disease duration is 7 years.
SY   Cerebellar ataxia, progressive dementia, and amyloid deposits in CNS.
SY   Cerebral amyloidosis with spongiform encephalopathy.
SY   Gerstmann-Straussler-Scheinker disease.
SY   GSS.
SY   Prion dementia.
SY   Subacute spongiform encephalopathy Gerstmann-Straussler type.
DR   MIM; 137440; phenotype.
DR   MedGen; C0017495.
DR   MeSH; D016098.
KW   KW-1008:Amyloidosis.
//
ID   Ghosal hematodiaphyseal dysplasia.
AC   DI-01657
AR   GHDD.
DE   Rare autosomal recessive disorder characterized by increased bone
DE   density with predominant diaphyseal involvement and aregenerative
DE   corticosteroid-sensitive anemia. Aregenerative anemia is characterized
DE   by bone marrow failure, so that functional marrow cells are
DE   regenerated slowly or not at all.
DR   MIM; 231095; phenotype.
DR   MedGen; C1856465.
//
ID   Giant axonal neuropathy 1, autosomal recessive.
AC   DI-01658
AR   GAN1.
DE   A severe autosomal recessive sensorimotor neuropathy affecting both
DE   the peripheral nerves and the central nervous system. Axonal loss and
DE   the presence of giant axonal swellings filled with neurofilaments on
DE   nerve biopsies are the hallmarks of this neurodegenerative disorder.
SY   GAN.
DR   MIM; 256850; phenotype.
DR   MedGen; C1850386.
DR   MeSH; D015417.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Giant axonal neuropathy 2, autosomal dominant.
AC   DI-04139
AR   GAN2.
DE   An autosomal dominant peripheral axonal neuropathy characterized by
DE   onset of distal sensory impairment with lower extremity muscle
DE   weakness and atrophy after the second decade. Clinical features
DE   include foot deformities apparent in childhood, and cardiomyopathy in
DE   severely affected individuals. Sural nerve biopsy shows giant axonal
DE   swelling with neurofilament accumulation.
SY   HMSN2 with neurofilament accumulations and infrequent giant axons.
DR   MIM; 610100; phenotype.
DR   MedGen; C1864695.
DR   MeSH; D015417.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Gilbert syndrome.
AC   DI-01659
AR   GILBS.
DE   Occurs as a consequence of reduced bilirubin transferase activity and
DE   is often detected in young adults with vague non-specific complaints.
DR   MIM; 143500; phenotype.
DR   MedGen; C0017551.
//
ID   Gilles de la Tourette syndrome.
AC   DI-01660
AR   GTS.
DE   Neurologic disorder manifested particularly by motor and vocal tics
DE   and associated with behavioral abnormalities.
DR   MIM; 137580; phenotype.
DR   MedGen; C0040517.
DR   MedGen; C1392622.
//
ID   Gillespie syndrome.
AC   DI-01661
AR   GLSP.
DE   A rare disease characterized by bilateral iris hypoplasia, congenital
DE   hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and
DE   intellectual disability.
SY   Aniridia, cerebellar ataxia and mental deficiency.
DR   MIM; 206700; phenotype.
DR   MedGen; C0431401.
DR   MeSH; D002524.
DR   MeSH; D008607.
DR   MeSH; D015783.
KW   KW-0991:Intellectual disability.
//
ID   Gillessen-Kaesbach-Nishimura syndrome.
AC   DI-04737
AR   GIKANIS.
DE   A rare autosomal recessive syndrome characterized by severe skeletal
DE   dysplasia, facial dysmorphic features, polycystic kidney disease and
DE   other visceral malformations. It may be lethal in utero or early in
DE   life. The skeletal features uniformly comprise a round pelvis,
DE   mesomelic shortening of the upper limbs and defective ossification of
DE   the cervical spine.
SY   Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia.
DR   MIM; 263210; phenotype.
DR   MedGen; C1849762.
DR   MeSH; D004480.
DR   MeSH; D006972.
DR   MeSH; D017044.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   GIST-plus syndrome.
AC   DI-05623
AR   GISTPS.
DE   A disorder characterized by multiple mesenchymal tumors of the
DE   gastrointestinal tract, including gastrointestinal stromal tumor,
DE   inflammatory fibroid polyps, and fibroid tumors. Additional features
DE   are coarse facies and skin, broad hands and feet, and premature tooth
DE   loss. GISTPS is an autosomal dominant disease with incomplete
DE   penetrance. Gastrointestinal stromal tumor and inflammatory fibroid
DE   polyps may also occur in isolation.
SY   Gastrointestinal stromal tumor/GIST-plus syndrome.
SY   Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal.
DR   MIM; 175510; phenotype.
DR   MedGen; C1868000.
DR   MeSH; D046152.
//
ID   Gitelman syndrome.
AC   DI-00510
AR   GTLMNS.
DE   An autosomal recessive disorder characterized by hypokalemic alkalosis
DE   in combination with hypomagnesemia, low urinary calcium, and increased
DE   renin activity associated with normal blood pressure. Patients are
DE   often asymptomatic or present transient periods of muscular weakness
DE   and tetany, usually accompanied by abdominal pain, vomiting and fever.
DE   The phenotype is highly heterogeneous in terms of age at onset and
DE   severity. Cardinal features such as hypocalciuria and hypomagnesemia
DE   might also change during the life cycle of a given patient. It has
DE   overlapping features with Bartter syndrome.
SY   Bartter syndrome Gitelman variant.
SY   Bartter syndrome hypocalciuric variant.
SY   Potassium and magnesium depletion.
SY   Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria.
DR   MIM; 263800; phenotype.
DR   MedGen; C0268450.
DR   MedGen; C2930816.
DR   MeSH; D053579.
//
ID   Glanzmann thrombasthenia 1.
AC   DI-01664
AR   GT1.
DE   A form of Glanzmann thrombasthenia, a disorder characterized by
DE   failure of platelet aggregation, absent or diminished clot retraction,
DE   and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann
DE   thrombasthenia has been classified into clinical types I and II. In
DE   type I, platelets show absence of glycoprotein IIb-IIIa complexes at
DE   their surface and lack fibrinogen and clot retraction capability. In
DE   type II, the platelets express glycoprotein IIb-IIIa complexes at
DE   reduced levels, have detectable amounts of fibrinogen, and have low or
DE   moderate clot retraction capability. GT1 inheritance is autosomal
DE   recessive.
SY   BDPLT2.
SY   Bleeding disorder platelet-type 2.
SY   Deficiency of platelet fibrinogen receptor.
SY   Glycoprotein complex IIb-IIIa deficiency.
SY   Platelet glycoprotein IIb-IIIa deficiency.
SY   Thrombasthenia of Glanzmann and Naegeli.
DR   MIM; 273800; phenotype.
DR   MedGen; C0040015.
DR   MeSH; D013915.
//
ID   Glanzmann thrombasthenia 2.
AC   DI-06076
AR   GT2.
DE   A form of Glanzmann thrombasthenia, a disorder characterized by
DE   failure of platelet aggregation, absent or diminished clot retraction,
DE   and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann
DE   thrombasthenia has been classified into clinical types I and II. In
DE   type I, platelets show absence of glycoprotein IIb-IIIa complexes at
DE   their surface and lack fibrinogen and clot retraction capability. In
DE   type II, the platelets express glycoprotein IIb-IIIa complexes at
DE   reduced levels, have detectable amounts of fibrinogen, and have low or
DE   moderate clot retraction capability.
SY   BDPLT23.
SY   Bleeding disorder, platelet-type, 23.
DR   MIM; 619267; phenotype.
DR   MedGen; CN296334.
DR   MeSH; D013915.
//
ID   Glaucoma 1, open angle, A.
AC   DI-00937
AR   GLC1A.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place.
SY   JOAG1.
SY   Juvenile-onset primary open angle glaucoma 1.
SY   Primary open angle glaucoma 1A.
DR   MIM; 137750; phenotype.
DR   MedGen; C1842028.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 1, open angle, E.
AC   DI-00938
AR   GLC1E.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place.
SY   Adult-onset primary open angle glaucoma.
SY   POAG.
SY   Primary open angle glaucoma 1E.
DR   MIM; 137760; phenotype.
DR   MedGen; C1842026.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 1, open angle, F.
AC   DI-03767
AR   GLC1F.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place.
SY   Adult-onset primary open angle glaucoma.
SY   POAG.
SY   Primary open angle glaucoma 1F.
DR   MIM; 603383; phenotype.
DR   MedGen; C1863926.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 1, open angle, G.
AC   DI-00939
AR   GLC1G.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place.
SY   Primary open angle glaucoma 1G.
DR   MIM; 609887; phenotype.
DR   MedGen; C1835933.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 1, open angle, O.
AC   DI-02594
AR   GLC1O.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place.
SY   Primary open angle glaucoma 1O.
DR   MIM; 613100; phenotype.
DR   MedGen; C2751294.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 1, open angle, P.
AC   DI-03709
AR   GLC1P.
DE   A form of primary open angle glaucoma (POAG). POAG is characterized by
DE   a specific pattern of optic nerve and visual field defects. The angle
DE   of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place. GLC1P is characterized by early onset,
DE   thin central corneas and low intraocular pressure.
SY   Primary open angle glaucoma 1P.
DR   MIM; 177700; phenotype.
DR   MedGen; C1867465.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 3, primary congenital, A.
AC   DI-00935
AR   GLC3A.
DE   An autosomal recessive form of primary congenital glaucoma (PCG). PCG
DE   is characterized by marked increase of intraocular pressure at birth
DE   or early childhood, large ocular globes (buphthalmos) and corneal
DE   edema. It results from developmental defects of the trabecular
DE   meshwork and anterior chamber angle of the eye that prevent adequate
DE   drainage of aqueous humor.
SY   Buphthalmos.
SY   Congenital glaucoma.
SY   Glaucoma, primary open angle, adult-onset.
SY   Glaucoma, primary open angle, juvenile-onset.
SY   Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset.
SY   GLC3.
SY   Primary congenital glaucoma 3A.
SY   Primary infantile glaucoma type 3A.
DR   MIM; 231300; phenotype.
DR   MedGen; C0020302.
DR   MedGen; C1856439.
DR   MedGen; C3278153.
DR   MeSH; D005901.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 3, primary congenital, D.
AC   DI-02595
AR   GLC3D.
DE   An autosomal recessive form of primary congenital glaucoma (PCG). PCG
DE   is characterized by marked increase of intraocular pressure at birth
DE   or early childhood, large ocular globes (buphthalmos) and corneal
DE   edema. It results from developmental defects of the trabecular
DE   meshwork and anterior chamber angle of the eye that prevent adequate
DE   drainage of aqueous humor.
SY   Primary congenital glaucoma 3D.
DR   MIM; 613086; phenotype.
DR   MedGen; C2751316.
DR   MeSH; D005901.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma 3, primary congenital, E.
AC   DI-04901
AR   GLC3E.
DE   An autosomal dominant form of primary congenital glaucoma (PCG). PCG
DE   is characterized by marked increase of intraocular pressure at birth
DE   or early childhood, large ocular globes (buphthalmos) and corneal
DE   edema. It results from developmental defects of the trabecular
DE   meshwork and anterior chamber angle of the eye that prevent adequate
DE   drainage of aqueous humor.
DR   MIM; 617272; phenotype.
DR   MedGen; CN239932.
DR   MeSH; D005901.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma, normal pressure.
AC   DI-00879
AR   NPG.
DE   A primary glaucoma characterized by intraocular pression consistently
DE   within the statistically normal population range.
SY   Normal tension glaucoma.
SY   NTG.
DR   MIM; 606657; phenotype.
DR   MedGen; C1847730.
DR   MeSH; D005901.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma, primary closed-angle.
AC   DI-05838
AR   GLCC.
DE   An autosomal dominant form of primary glaucoma, an ocular disease
DE   characterized by a marked increase of intraocular pressure causing
DE   damage to eye structures and function. GLCC is characterized by
DE   elevated intraocular pressure due to iridocorneal angle closure with
DE   retention of the aqueous humor in the anterior chamber. Iridocorneal
DE   angle changes are apparent in the fourth to fifth decade of life, and
DE   patients manifest age-related variation in the severity of
DE   glaucomatous damage.
SY   Primary angle-closure glaucoma.
DR   MIM; 618880; phenotype.
DR   MedGen; CN280897.
DR   MeSH; D015812.
KW   KW-0955:Glaucoma.
//
ID   Glaucoma, primary open angle.
AC   DI-00936
AR   POAG.
DE   A complex and genetically heterogeneous ocular disorder characterized
DE   by a specific pattern of optic nerve and visual field defects. The
DE   angle of the anterior chamber of the eye is open, and usually the
DE   intraocular pressure is increased. However, glaucoma can occur at any
DE   intraocular pressure. The disease is generally asymptomatic until the
DE   late stages, by which time significant and irreversible optic nerve
DE   damage has already taken place. In some cases, POAG shows digenic
DE   inheritance involving mutations in CYP1B1 and MYOC genes.
SY   Adult-onset primary open angle glaucoma.
DR   MIM; 137760; phenotype.
DR   MedGen; C0339573.
DR   MeSH; D005902.
KW   KW-0955:Glaucoma.
//
ID   Glioma.
AC   DI-02566
AR   GLM.
DE   Gliomas are benign or malignant central nervous system neoplasms
DE   derived from glial cells. They comprise astrocytomas and glioblastoma
DE   multiforme that are derived from astrocytes, oligodendrogliomas
DE   derived from oligodendrocytes and ependymomas derived from
DE   ependymocytes.
SY   Astrocytoma.
SY   Familial glioma of brain.
SY   GBM.
SY   Glioblastoma multiforme.
SY   GLM.
SY   Oligodendroglioma.
DR   MIM; 137800; phenotype.
DR   MedGen; C0004114.
DR   MedGen; C0028945.
DR   MedGen; C0751396.
DR   MedGen; C1621958.
DR   MedGen; C1842010.
DR   MeSH; D005910.
//
ID   Glioma 1.
AC   DI-01665
AR   GLM1.
DE   Gliomas are benign or malignant central nervous system neoplasms
DE   derived from glial cells. They comprise astrocytomas and glioblastoma
DE   multiforme that are derived from astrocytes, oligodendrogliomas
DE   derived from oligodendrocytes and ependymomas derived from
DE   ependymocytes.
DR   MIM; 137800; phenotype.
DR   MedGen; C2750850.
DR   MeSH; D005910.
//
ID   Glioma 2.
AC   DI-02567
AR   GLM2.
DE   Gliomas are benign or malignant central nervous system neoplasms
DE   derived from glial cells. They comprise astrocytomas and glioblastoma
DE   multiforme that are derived from astrocytes, oligodendrogliomas
DE   derived from oligodendrocytes and ependymomas derived from
DE   ependymocytes.
DR   MIM; 613028; phenotype.
DR   MedGen; C2751642.
DR   MeSH; D005910.
//
ID   Glioma 3.
AC   DI-02629
AR   GLM3.
DE   Gliomas are benign or malignant central nervous system neoplasms
DE   derived from glial cells. They comprise astrocytomas and glioblastoma
DE   multiforme that are derived from astrocytes, oligodendrogliomas
DE   derived from oligodendrocytes and ependymomas derived from
DE   ependymocytes.
DR   MIM; 613029; phenotype.
DR   MedGen; C2751641.
DR   MeSH; D005910.
//
ID   Glioma 7.
AC   DI-06531
AR   GLM7.
DE   Gliomas are benign or malignant central nervous system neoplasms
DE   derived from glial cells. They comprise astrocytomas and glioblastoma
DE   multiforme that are derived from astrocytes, oligodendrogliomas
DE   derived from oligodendrocytes and ependymomas derived from
DE   ependymocytes.
DR   MIM; 613032; phenotype.
DR   MedGen; C2751638.
DR   MeSH; D005910.
//
ID   Global developmental delay with or without impaired intellectual development.
AC   DI-05485
AR   GDDI.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay associated with mild-to-moderate intellectual disability,
DE   hypotonia and short stature in some patients.
DR   MIM; 618330; phenotype.
DR   MedGen; CN258211.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Global developmental delay with speech and behavioral abnormalities.
AC   DI-06063
AR   GDSBA.
DE   An autosomal dominant disorder manifesting in infancy or early
DE   childhood. It is characterized by mildly delayed fine and motor
DE   skills, mildly impaired intellectual development, speech and language
DE   delay, and variable behavioral abnormalities, mostly autism and
DE   attention-deficit hyperactivity disorder. Additional non-specific
DE   features include facial dysmorphism, myopia or strabismus, and
DE   skeletal defects.
DR   MIM; 619243; phenotype.
DR   MedGen; CN296018.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.
AC   DI-04903
AR   GDACCF.
DE   An autosomal dominant syndrome characterized by underdevelopment of
DE   the corpus callosum, mild to moderate developmental delay and
DE   intellectual disability, variable microcephaly or mild macrocephaly,
DE   short stature, feeding problems, facial dysmorphisms, and cardiac and
DE   renal malformations.
DR   MIM; 617260; phenotype.
DR   MedGen; CN239944.
DR   MeSH; D002658.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Global developmental delay, lung cysts, overgrowth, and Wilms tumor.
AC   DI-05455
AR   GLOW.
DE   A disease characterized by the association of congenital nephromegaly,
DE   bilateral Wilms tumor, somatic overgrowth, developmental delay,
DE   macrocephaly, and bilateral lung cysts.
SY   GLOW syndrome.
DR   MIM; 618272; phenotype.
DR   MedGen; CN257964.
DR   MeSH; D002658.
DR   MeSH; D008171.
DR   MeSH; D009396.
//
ID   Global developmental delay, progressive ataxia, and elevated glutamine.
AC   DI-05561
AR   GDPAG.
DE   An autosomal recessive disease characterized by early-onset delay in
DE   motor skills, delayed speech, progressive ataxia, and neurologic
DE   deterioration. Plasma glutamine is persistently elevated by a factor
DE   of 2.5 despite normal plasma ammonia levels.
SY   Glutaminase deficiency with impaired intellectual development and progressive ataxia.
DR   MIM; 618412; phenotype.
DR   MedGen; CN258346.
DR   MeSH; D065886.
//
ID   Glomerulopathy with fibronectin deposits 2.
AC   DI-01667
AR   GFND2.
DE   Genetically heterogeneous autosomal dominant disorder characterized
DE   clinically by proteinuria, microscopic hematuria, and hypertension
DE   that leads to end-stage renal failure in the second to fifth decade of
DE   life.
SY   Familial glomerular nephritis with fibronectin deposits.
SY   Fibronectin glomerulopathy.
DR   MIM; 601894; phenotype.
DR   MedGen; C1866075.
//
ID   Glomuvenous malformations.
AC   DI-01668
AR   GVMs.
DE   Characterized by the presence of smooth-muscle-like glomus cells in
DE   the media surrounding distended vascular lumens.
DR   MIM; 138000; phenotype.
DR   MedGen; C1841984.
//
ID   Glucocorticoid deficiency 1.
AC   DI-01669
AR   GCCD1.
DE   A form of glucocorticoid deficiency, a rare autosomal recessive
DE   disorder characterized by resistance to ACTH action on the adrenal
DE   cortex, adrenal insufficiency and an inability of the adrenal cortex
DE   to produce cortisol. It usually presents in the neonatal period or in
DE   early childhood with episodes of hypoglycemia and other symptoms
DE   related to cortisol deficiency, including failure to thrive, recurrent
DE   illnesses or infections, convulsions, and shock. In a small number of
DE   patients hypoglycemia can be sufficiently severe and persistent that
DE   it leads to serious long-term neurological damage or death. The
DE   diagnosis is readily confirmed with a low plasma cortisol measurement
DE   in the presence of an elevated ACTH level, and normal aldosterone and
DE   plasma renin measurements.
SY   ACTH resistance.
SY   Adrenal unresponsiveness to ACTH.
SY   Familial glucocorticoid deficiency 1.
SY   FGD1.
SY   Hereditary unresponsiveness to adrenocorticotropic hormone.
SY   Isolated glucocorticoid deficiency.
DR   MIM; 202200; phenotype.
DR   MedGen; C1859974.
DR   MeSH; D000309.
//
ID   Glucocorticoid deficiency 2.
AC   DI-01670
AR   GCCD2.
DE   A form of glucocorticoid deficiency, a rare autosomal recessive
DE   disorder characterized by resistance to ACTH action on the adrenal
DE   cortex, adrenal insufficiency and an inability of the adrenal cortex
DE   to produce cortisol. It usually presents in the neonatal period or in
DE   early childhood with episodes of hypoglycemia and other symptoms
DE   related to cortisol deficiency, including failure to thrive, recurrent
DE   illnesses or infections, convulsions, and shock. In a small number of
DE   patients hypoglycemia can be sufficiently severe and persistent that
DE   it leads to serious long-term neurological damage or death. The
DE   diagnosis is readily confirmed with a low plasma cortisol measurement
DE   in the presence of an elevated ACTH level, and normal aldosterone and
DE   plasma renin measurements.
SY   Familial glucocorticoid deficiency 2.
SY   FGD2.
DR   MIM; 607398; phenotype.
DR   MedGen; C1846284.
DR   MeSH; D000309.
//
ID   Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.
AC   DI-03501
AR   GCCD4.
DE   A form of glucocorticoid deficiency, a rare autosomal recessive
DE   disorder characterized by resistance to ACTH action on the adrenal
DE   cortex, adrenal insufficiency and an inability of the adrenal cortex
DE   to produce cortisol. It usually presents in the neonatal period or in
DE   early childhood with episodes of hypoglycemia and other symptoms
DE   related to cortisol deficiency, including failure to thrive, recurrent
DE   illnesses or infections, convulsions, and shock. In a small number of
DE   patients hypoglycemia can be sufficiently severe and persistent that
DE   it leads to serious long-term neurological damage or death. The
DE   diagnosis is readily confirmed with a low plasma cortisol measurement
DE   in the presence of an elevated ACTH level, and normal aldosterone and
DE   plasma renin measurements.
SY   Familial glucocorticoid deficiency 4.
SY   FGD4.
DR   MIM; 614736; phenotype.
DR   MedGen; C3553587.
DR   MedGen; CN130473.
DR   MeSH; D000309.
//
ID   Glucocorticoid deficiency 5.
AC   DI-05165
AR   GCCD5.
DE   A form of glucocorticoid deficiency, a rare autosomal recessive
DE   disorder characterized by resistance to ACTH action on the adrenal
DE   cortex, adrenal insufficiency and an inability of the adrenal cortex
DE   to produce cortisol. It usually presents in the neonatal period or in
DE   early childhood with episodes of hypoglycemia and other symptoms
DE   related to cortisol deficiency, including failure to thrive, recurrent
DE   illnesses or infections, convulsions, and shock. In a small number of
DE   patients hypoglycemia can be sufficiently severe and persistent that
DE   it leads to serious long-term neurological damage or death. The
DE   diagnosis is readily confirmed with a low plasma cortisol measurement
DE   in the presence of an elevated ACTH level, and normal aldosterone and
DE   plasma renin measurements.
DR   MIM; 617825; phenotype.
DR   MedGen; CN708879.
DR   MeSH; D000309.
//
ID   Glucocorticoid resistance.
AC   DI-01671
AR   GCRES.
DE   Hypertensive, hyperandrogenic disorder characterized by increased
DE   serum cortisol concentrations. Inheritance is autosomal dominant.
SY   Cortisol resistance.
DR   MIM; 138040; gene+phenotype.
DR   MedGen; C1841973.
DR   MedGen; C1841982.
//
ID   Glucocorticoid resistance, generalized.
AC   DI-04226
AR   GCCR.
DE   An autosomal dominant disease characterized by increased plasma
DE   cortisol concentration and high urinary free cortisol, resistance to
DE   adrenal suppression by dexamethasone, and the absence of Cushing
DE   syndrome typical signs. Clinical features include hypoglycemia,
DE   hypertension, metabolic alkalosis, chronic fatigue and profound
DE   anxiety.
SY   Chrousos syndrome.
SY   Cortisol resistance from glucocorticoid receptor defect.
SY   GCCR deficiency.
SY   GCR deficiency.
SY   Glucocorticoid receptor deficiency.
SY   GRL deficiency.
DR   MIM; 615962; phenotype.
DR   MedGen; CN205763.
DR   MeSH; D008661.
//
ID   GLUT1 deficiency syndrome 1.
AC   DI-01209
AR   GLUT1DS1.
DE   A neurologic disorder showing wide phenotypic variability. The most
DE   severe 'classic' phenotype comprises infantile-onset epileptic
DE   encephalopathy associated with delayed development, acquired
DE   microcephaly, motor incoordination, and spasticity. Onset of seizures,
DE   usually characterized by apneic episodes, staring spells, and episodic
DE   eye movements, occurs within the first 4 months of life. Other
DE   paroxysmal findings include intermittent ataxia, confusion, lethargy,
DE   sleep disturbance, and headache. Varying degrees of cognitive
DE   impairment can occur, ranging from learning disabilities to severe
DE   intellectual disability.
SY   Blood-brain barrier glucose transport defect.
SY   Encephalopathy due to GLUT1 deficiency.
SY   GLUT1 deficiency.
SY   GLUT-1 deficiency syndrome.
SY   GLUT1 deficiency syndrome autosomal recessive.
DR   MIM; 606777; phenotype.
DR   MedGen; C1847501.
DR   MedGen; C3149117.
DR   MeSH; D001927.
KW   KW-0887:Epilepsy.
//
ID   GLUT1 deficiency syndrome 2.
AC   DI-00421
AR   GLUT1DS2.
DE   A clinically variable disorder characterized primarily by onset in
DE   childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia
DE   involves transient abnormal involuntary movements, such as dystonia
DE   and choreoathetosis, induced by exercise or exertion, and affecting
DE   the exercised limbs. Some patients may also have epilepsy, most
DE   commonly childhood absence epilepsy. Mild intellectual disability may
DE   also occur. In some patients involuntary exertion-induced dystonic,
DE   choreoathetotic, and ballistic movements may be associated with
DE   macrocytic hemolytic anemia.
SY   Dystonia 18.
SY   Dystonia-18.
SY   DYT18.
SY   Paroxysmal exercise-induced dystonia.
SY   Paroxysmal exercise-induced dystonia with or without epilepsy and/or hemolytic anemia.
SY   Paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia.
SY   PED with or without epilepsy and/or hemolytic anemia.
DR   MIM; 612126; phenotype.
DR   MedGen; C1842534.
DR   MeSH; D002819.
DR   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Glutamate formiminotransferase deficiency.
AC   DI-01672
AR   FIGLU-URIA.
DE   Autosomal recessive disorder. Features of a severe phenotype, include
DE   elevated levels of formiminoglutamate (FIGLU) in the urine in response
DE   to histidine administration, megaloblastic anemia, and intellectual
DE   disability. Features of a mild phenotype include high urinary
DE   excretion of FIGLU in the absence of histidine administration, mild
DE   developmental delay, and no hematological abnormalities.
SY   Formiminoglutamicaciduria.
SY   Formiminoglutamic aciduria.
SY   Formiminotransferase deficiency.
DR   MIM; 229100; phenotype.
DR   MedGen; C0268609.
//
ID   Glutaric aciduria 1.
AC   DI-00512
AR   GA1.
DE   An autosomal recessive metabolic disorder characterized by progressive
DE   dystonia and athetosis due to gliosis and neuronal loss in the basal
DE   ganglia.
SY   GA-I.
SY   Glutaric acidemia type I.
SY   Glutaryl-CoA dehydrogenase deficiency.
DR   MIM; 231670; phenotype.
DR   MedGen; C0268595.
DR   MeSH; D000592.
DR   MeSH; D001928.
KW   KW-0316:Glutaricaciduria.
//
ID   Glutaric aciduria 2A.
AC   DI-00513
AR   GA2A.
DE   An autosomal recessively inherited disorder of fatty acid, amino acid,
DE   and choline metabolism. It is characterized by multiple acyl-CoA
DE   dehydrogenase deficiencies resulting in large excretion not only of
DE   glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE   2-methyl-butyric, and isovaleric acids.
SY   EMA.
SY   ETFA deficiency.
SY   Ethylmalonic-adipicaciduria.
SY   GAIIA.
SY   Glutaricaciduria IIA.
SY   MADD.
SY   Multiple acyl-CoA dehydrogenase deficiency.
DR   MIM; 231680; phenotype.
DR   MedGen; C1856401.
DR   MedGen; C3278154.
DR   MeSH; D054069.
KW   KW-0316:Glutaricaciduria.
//
ID   Glutaric aciduria 2B.
AC   DI-00514
AR   GA2B.
DE   An autosomal recessively inherited disorder of fatty acid, amino acid,
DE   and choline metabolism. It is characterized by multiple acyl-CoA
DE   dehydrogenase deficiencies resulting in large excretion not only of
DE   glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE   2-methyl-butyric, and isovaleric acids.
SY   EMA.
SY   ETFB deficiency.
SY   Ethylmalonic-adipicaciduria.
SY   GAIIB.
SY   Glutaricaciduria IIB.
SY   MADD.
SY   Multiple acyl-CoA dehydrogenase deficiency.
DR   MIM; 231680; phenotype.
DR   MedGen; C1856403.
DR   MedGen; C3278155.
DR   MeSH; D054069.
KW   KW-0316:Glutaricaciduria.
//
ID   Glutaric aciduria 2C.
AC   DI-00515
AR   GA2C.
DE   An autosomal recessively inherited disorder of fatty acid, amino acid,
DE   and choline metabolism. It is characterized by multiple acyl-CoA
DE   dehydrogenase deficiencies resulting in large excretion not only of
DE   glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric,
DE   2-methyl-butyric, and isovaleric acids.
SY   EMA.
SY   ETFDH deficiency.
SY   Ethylmalonic-adipicaciduria.
SY   GAIIC.
SY   Glutaricaciduria IIC.
SY   MADD.
SY   Multiple acyl-CoA dehydrogenase deficiency.
DR   MIM; 231680; phenotype.
DR   MedGen; C1856405.
DR   MedGen; C3278156.
DR   MeSH; D054069.
KW   KW-0316:Glutaricaciduria.
//
ID   Glutaric aciduria 3.
AC   DI-00516
AR   GA3.
DE   A metabolic disorder due to peroxisomal glutaryl-CoA oxidase
DE   deficiency and characterized by the excretion of abnormal quantities
DE   of glutaric acid but low 3-hydroxyglutaric acid.
SY   GA III.
SY   Glutaryl-CoA oxidase deficiency.
DR   MIM; 231690; phenotype.
DR   MedGen; C0342873.
DR   MeSH; D000592.
KW   KW-0316:Glutaricaciduria.
//
ID   Glutathione synthetase deficiency.
AC   DI-01673
AR   GSS deficiency.
DE   Severe form characterized by an increased rate of hemolysis and
DE   defective function of the central nervous system.
SY   5-oxoprolinuria.
SY   Pyroglutamic aciduria.
DR   MIM; 266130; phenotype.
DR   MedGen; C0398746.
//
ID   Glutathione synthetase deficiency of erythrocytes.
AC   DI-01674
AR   GLUSYNDE.
DE   Mild form causing hemolytic anemia.
DR   MIM; 231900; phenotype.
DR   MedGen; C1856399.
//
ID   Glutathionuria.
AC   DI-01675
AR   GLUTH.
DE   A very rare, autosomal recessive metabolic disorder characterized by
DE   the presence of glutathione in the urine, due to generalized gamma-
DE   glutamyl transpeptidase deficiency. Most patients manifest mild to
DE   moderate intellectual disability, and behavioral disturbance.
DE   Seizures, tremor, marfanoid features and strabismus are observed in
DE   some patients.
SY   Gamma-glutamyltransferase deficiency.
SY   Gamma-glutamyltranspeptidase deficiency.
SY   GGT deficiency.
SY   GTG deficiency.
DR   MIM; 231950; phenotype.
DR   MedGen; C0268524.
DR   MeSH; D000592.
KW   KW-0991:Intellectual disability.
//
ID   Glycerol kinase deficiency.
AC   DI-01663
AR   GKD.
DE   A metabolic disorder manifesting as 3 clinically distinct forms:
DE   infantile, juvenile, and adult. The infantile form is the most severe
DE   and is associated with severe developmental delay and adrenal
DE   insufficiency. Patients with the adult form have no symptoms and are
DE   often detected fortuitously. GKD results in hyperglycerolemia, a
DE   condition characterized by the accumulation of glycerol in the blood
DE   and urine.
SY   GK1 deficiency.
SY   GK deficiency.
SY   Hyperglycerolemia.
DR   MIM; 307030; phenotype.
DR   MedGen; C0268418.
DR   MeSH; D002239.
//
ID   Glycine encephalopathy 2.
AC   DI-06697
AR   GCE2.
DE   A form of glycine encephalopathy, a metabolic disorder characterized
DE   by a high concentration of glycine in the body fluids. Affected
DE   individuals typically have severe neurological symptoms, including
DE   seizure, lethargy, and muscular hypotonia soon after birth. Most of
DE   them die within the neonatal period. Atypical cases have later disease
DE   onset and less severely affected psychomotor development.
DR   MIM; 620398; phenotype.
DR   MedGen; CN371930.
DR   MeSH; D020158.
//
ID   Glycine encephalopathy with normal serum glycine.
AC   DI-04929
AR   GCENSG.
DE   An autosomal recessive, severe metabolic disorder characterized by
DE   arthrogryposis multiplex congenita, joint hyperlaxity, lack of
DE   neonatal respiratory effort, axial hypotonia, hypertonia with
DE   pronounced clonus, and delayed psychomotor development. Some patients
DE   may have dysmorphic facial features and/or brain imaging
DE   abnormalities. Laboratory studies show increased CSF glycine and
DE   normal or only mildly increased serum glycine. Most patients die in
DE   infancy.
DR   MIM; 617301; phenotype.
DR   MedGen; CN239956.
DR   MeSH; D020739.
//
ID   Glycine N-methyltransferase deficiency.
AC   DI-01680
AR   GNMT deficiency.
DE   The only clinical abnormalities in patients with this deficiency are
DE   mild hepatomegaly and chronic elevation of serum transaminases.
SY   Hypermethioninemia.
DR   MIM; 606664; phenotype.
DR   MedGen; C1847720.
//
ID   Glycogen storage disease 0.
AC   DI-00517
AR   GSD0.
DE   A metabolic disorder characterized by fasting hypoglycemia presenting
DE   in infancy or early childhood, high blood ketones and low alanine and
DE   lactate concentrations. Although feeding relieves symptoms, it often
DE   results in postprandial hyperglycemia and hyperlactatemia.
SY   Hypoglycemia with deficiency of glycogen synthetase in the liver.
SY   Liver glycogen synthase deficiency.
DR   MIM; 240600; phenotype.
DR   MedGen; C1855861.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 10.
AC   DI-02572
AR   GSD10.
DE   A metabolic disorder characterized by myoglobinuria, increased serum
DE   creatine kinase levels, decreased phosphoglycerate mutase activity,
DE   myalgia, muscle pain, muscle cramps, exercise intolerance.
SY   Glycogen storage disease X.
SY   GSD X.
SY   Muscle phosphoglycerate mutase deficiency.
SY   Myopathy due to phosphoglycerate mutase deficiency.
SY   PGAMM deficiency.
DR   MIM; 261670; phenotype.
DR   MedGen; C0268149.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 11.
AC   DI-02478
AR   GSD11.
DE   A metabolic disorder that results in exertional myoglobinuria, pain,
DE   cramps and easy fatigue.
SY   Glycogen storage disease XI.
SY   GSD XI.
SY   Lactate dehydrogenase A deficiency.
DR   MIM; 612933; phenotype.
DR   MedGen; C2752022.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 12.
AC   DI-01176
AR   GSD12.
DE   A metabolic disorder associated with increased hepatic glycogen and
DE   hemolytic anemia. It may lead to myopathy with exercise intolerance
DE   and rhabdomyolysis.
SY   ALDOA deficiency.
SY   Aldolase A deficiency.
SY   Glycogen storage disease XII.
SY   GSD XII.
SY   Red cell aldolase deficiency.
DR   MIM; 611881; phenotype.
DR   MedGen; C0272066.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Glycogen storage disease 13.
AC   DI-02013
AR   GSD13.
DE   A metabolic disorder that results in exercise-induced myalgias,
DE   generalized muscle weakness and fatigability. It is characterized by
DE   increased serum creatine kinase and decreased enolase 3 activity.
DE   Dramatically reduced protein levels with focal sarcoplasmic
DE   accumulation of glycogen-beta particles are detected on
DE   ultrastructural analysis.
SY   Enolase 3 deficiency.
SY   Enolase-beta deficiency.
SY   Glycogenosis type XIII.
SY   Glycogen storage disease XIII.
SY   GSD XIII.
SY   Muscle-specific enolase-beta deficiency.
DR   MIM; 612932; phenotype.
DR   MedGen; C2752027.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 15.
AC   DI-02773
AR   GSD15.
DE   A metabolic disorder resulting in muscle weakness, associated with the
DE   glycogen depletion in skeletal muscle, and cardiac arrhythmia,
DE   associated with the accumulation of abnormal storage material in the
DE   heart. The skeletal muscle shows a marked predominance of slow-twitch,
DE   oxidative muscle fibers and mitochondrial proliferation.
SY   Glycogenin deficiency.
SY   Glycogen storage disease XV.
SY   GSD XV.
SY   GYG1 deficiency.
DR   MIM; 613507; phenotype.
DR   MedGen; C3150754.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 1A.
AC   DI-00518
AR   GSD1A.
DE   A metabolic disorder characterized by impairment of terminal steps of
DE   glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE   clinical symptoms and biochemical abnormalities, including
DE   hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE   glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE   hyperlipidemia, and hyperuricemia.
SY   Glucose-6-phosphatase deficiency.
SY   Glycogen storage disease Ia.
SY   GSD-Ia.
SY   Hepatorenal form of glycogen storage disease.
SY   Hepatorenal glycogenosis.
SY   von Gierke disease.
DR   MIM; 232200; phenotype.
DR   MedGen; C0017920.
DR   MedGen; CN069618.
DR   MeSH; D005953.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 1B.
AC   DI-00519
AR   GSD1B.
DE   A metabolic disorder characterized by impairment of terminal steps of
DE   glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE   clinical symptoms and biochemical abnormalities, including
DE   hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE   glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE   hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B
DE   patients also present a tendency towards infections associated with
DE   neutropenia, relapsing aphthous gingivostomatitis, and inflammatory
DE   bowel disease.
SY   Glucose-6-phosphate transport defect.
SY   Glycogen storage disease Ib.
SY   GSD Ib.
SY   GSD-Ib.
DR   MIM; 232220; phenotype.
DR   MedGen; C0268146.
DR   MeSH; D005953.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 1C.
AC   DI-00520
AR   GSD1C.
DE   A metabolic disorder characterized by impairment of terminal steps of
DE   glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE   clinical symptoms and biochemical abnormalities, including
DE   hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE   glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE   hyperlipidemia, and hyperuricemia.
SY   Glycogen storage disease Ic.
SY   GSD-Ic.
DR   MIM; 232240; phenotype.
DR   MedGen; C0342749.
DR   MeSH; D005953.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 1D.
AC   DI-00521
AR   GSD1D.
DE   A metabolic disorder characterized by impairment of terminal steps of
DE   glycogenolysis and gluconeogenesis. Patients manifest a wide range of
DE   clinical symptoms and biochemical abnormalities, including
DE   hypoglycemia, severe hepatomegaly due to excessive accumulation of
DE   glycogen, kidney enlargement, growth retardation, lactic acidemia,
DE   hyperlipidemia, and hyperuricemia.
SY   Glycogen storage disease Id.
SY   GSD-Id.
DR   MIM; 232240; phenotype.
DR   MedGen; C0342750.
DR   MeSH; D005953.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 2.
AC   DI-00522
AR   GSD2.
DE   A metabolic disorder with a broad clinical spectrum. The severe
DE   infantile form, or Pompe disease, presents at birth with massive
DE   accumulation of glycogen in muscle, heart and liver. Cardiomyopathy
DE   and muscular hypotonia are the cardinal features of this form whose
DE   life expectancy is less than two years. The juvenile and adult forms
DE   present as limb-girdle muscular dystrophy beginning in the lower
DE   limbs. Final outcome depends on respiratory muscle failure. Patients
DE   with the adult form can be free of clinical symptoms for most of their
DE   life but finally develop a slowly progressive myopathy.
SY   Acid alpha-glucosidase deficiency.
SY   Acid maltase deficiency.
SY   Alpha-1,4-glucosidase deficiency.
SY   AMD.
SY   Cardiomegalia glycogenica.
SY   GAA deficiency.
SY   Glycogenosis generalized cardiac form.
SY   Glycogenosis II.
SY   Glycogen storage disease II.
SY   GSD II.
SY   GSD-II.
SY   Pompe disease.
DR   MIM; 232300; phenotype.
DR   MedGen; C0017921.
DR   MedGen; C2931347.
DR   MedGen; CN068791.
DR   MedGen; CN068792.
DR   MeSH; D006009.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 3.
AC   DI-00523
AR   GSD3.
DE   A metabolic disorder associated with an accumulation of abnormal
DE   glycogen with short outer chains. It is clinically characterized by
DE   hepatomegaly, hypoglycemia, short stature, and variable myopathy.
DE   Glycogen storage disease type 3 includes different forms: GSD type 3A
DE   patients lack glycogen debrancher enzyme activity in both liver and
DE   muscle, while GSD type 3B patients are enzyme-deficient in liver only.
DE   In rare cases, selective loss of only 1 of the 2 debranching
DE   activities, glucosidase or transferase, results in GSD type 3C or type
DE   3D, respectively.
SY   AGL deficiency.
SY   Amylo-1,6-glucosidase deficiency.
SY   Cori disease.
SY   Forbes disease.
SY   GDE deficiency.
SY   Glycogen debranching enzyme deficiency.
SY   Glycogen storage disease III.
SY   Glycogen storage disease IIIa.
SY   Glycogen storage disease IIIb.
SY   Glycogen storage disease IIIc.
SY   Glycogen storage disease IIId.
SY   GSD-III.
SY   GSD IIIa.
SY   GSD IIIb.
SY   GSD IIIc.
SY   GSD IIId.
DR   MIM; 232400; phenotype.
DR   MedGen; C0017922.
DR   MedGen; C1968739.
DR   MedGen; C1968740.
DR   MedGen; C1968741.
DR   MedGen; C1968742.
DR   MeSH; D006010.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 4.
AC   DI-00524
AR   GSD4.
DE   A metabolic disorder characterized by the accumulation of an
DE   amylopectin-like polysaccharide. The typical clinical manifestation is
DE   liver disease of childhood, progressing to lethal hepatic cirrhosis.
DE   Most children with this condition die before two years of age.
DE   However, the liver disease is not always progressive. No treatment
DE   apart from liver transplantation has been found to prevent progression
DE   of the disease. There is also a neuromuscular form of glycogen storage
DE   disease type 4 that varies in onset (perinatal, congenital, juvenile,
DE   or adult) and severity.
SY   Amylopectinosis.
SY   Andersen disease.
SY   GBE1 deficiency.
SY   Glycogen branching enzyme deficiency.
SY   Glycogenosis IV.
SY   Glycogen storage disease IV.
SY   GSD IV.
SY   GSD-IV.
DR   MIM; 232500; phenotype.
DR   MedGen; C0017923.
DR   MedGen; C1856301.
DR   MedGen; C1856302.
DR   MedGen; C1856303.
DR   MedGen; C1856304.
DR   MedGen; C1856305.
DR   MedGen; C1856306.
DR   MedGen; CN068577.
DR   MedGen; CN068579.
DR   MedGen; CN068580.
DR   MedGen; CN068581.
DR   MedGen; CN068582.
DR   MeSH; D006011.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 5.
AC   DI-00525
AR   GSD5.
DE   A metabolic disorder resulting in myopathy characterized by exercise
DE   intolerance, cramps, muscle weakness and recurrent myoglobinuria.
SY   Glycogen storage disease V.
SY   GSD V.
SY   GSD-V.
SY   McArdle disease.
SY   Myophosphorylase deficiency.
DR   MIM; 232600; phenotype.
DR   MedGen; C0017924.
DR   MeSH; D006012.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 6.
AC   DI-00526
AR   GSD6.
DE   A metabolic disorder characterized by mild to moderate hypoglycemia,
DE   mild ketosis, growth retardation, and prominent hepatomegaly. Heart
DE   and skeletal muscle are not affected.
SY   Glycogen storage disease VI.
SY   Glycogen storage disease VIb.
SY   GSD-VI.
SY   Hers disease.
SY   Liver phosphorylase deficiency.
DR   MIM; 232700; phenotype.
DR   MedGen; C0017925.
DR   MeSH; D006013.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 7.
AC   DI-00527
AR   GSD7.
DE   A metabolic disorder characterized by exercise intolerance with
DE   associated nausea and vomiting, muscle cramping, exertional myopathy
DE   and compensated hemolysis. Short bursts of intense activity are
DE   particularly difficult. Severe muscle cramps and myoglobinuria develop
DE   after vigorous exercise.
SY   Glycogen storage disease VII.
SY   GSD VII.
SY   GSD-VII.
SY   Muscle phosphofructokinase deficiency.
SY   PFKM deficiency.
SY   Tarui disease.
DR   MIM; 232800; phenotype.
DR   MedGen; C0017926.
DR   MeSH; D006014.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 9A.
AC   DI-00528
AR   GSD9A.
DE   A metabolic disorder resulting in a mild liver glycogenosis with
DE   clinical symptoms that include hepatomegaly, growth retardation,
DE   muscle weakness, elevation of glutamate-pyruvate transaminase and
DE   glutamate-oxaloacetate transaminase, hypercholesterolemia,
DE   hypertriglyceridemia, and fasting hyperketosis. Two subtypes are
DE   known: type 1 or classic type with no phosphorylase kinase activity in
DE   liver or erythrocytes, and type 2 or variant type with no
DE   phosphorylase kinase activity in liver, but normal activity in
DE   erythrocytes. Unlike other glycogenosis diseases, glycogen storage
DE   disease type 9A is generally a benign condition. Patients improve with
DE   age and are often asymptomatic as adults. Accurate diagnosis is
DE   therefore also of prognostic interest.
SY   Glycogen storage disease IXa.
SY   Glycogen storage disease IXa1.
SY   Glycogen storage disease IXa2.
SY   Glycogen storage disease VIa.
SY   Glycogen storage disease VIII.
SY   GSD9A1.
SY   GSD9A2.
SY   GSD-IXa.
SY   GSD-VIa.
SY   GSD-VIII.
SY   Hepatic phosphorylase kinase deficiency.
SY   XLG.
SY   X-linked liver glycogenosis.
SY   X-linked liver glycogenosis type I.
SY   X-linked liver glycogenosis type II.
DR   MIM; 306000; phenotype.
DR   MedGen; C0017927.
DR   MedGen; C1844412.
DR   MedGen; C2748941.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 9B.
AC   DI-00529
AR   GSD9B.
DE   A metabolic disorder characterized by hepatomegaly, only slightly
DE   elevated transaminases and plasma lipids, clinical improvement with
DE   increasing age, and remarkably no clinical muscle involvement.
DE   Biochemical observations suggest that this mild phenotype is caused by
DE   an incomplete holoenzyme that lacks the beta subunit, but that may
DE   possess residual activity.
SY   Glycogen storage disease IXb.
SY   GSD-IXb.
SY   Phosphorylase kinase deficiency of liver and muscle.
DR   MIM; 261750; phenotype.
DR   MedGen; C0543514.
DR   MedGen; C1849812.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 9C.
AC   DI-00530
AR   GSD9C.
DE   A metabolic disorder manifesting in infancy with hepatomegaly, growth
DE   retardation, hypotonia, liver dysfunction, and elevated plasma
DE   aminotransferases and lipids. These symptoms improve with age in most
DE   cases; however, some patients may develop hepatic fibrosis or
DE   cirrhosis.
SY   ALG.
SY   Autosomal liver glycogenosis.
SY   Glycogen storage disease IXc.
SY   GSD-IXc.
DR   MIM; 613027; phenotype.
DR   MedGen; C2751643.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease 9D.
AC   DI-00531
AR   GSD9D.
DE   A metabolic disorder characterized by slowly progressive,
DE   predominantly distal muscle weakness and atrophy. Clinical features
DE   include exercise intolerance with early fatigability, pain, cramps and
DE   occasionally myoglobinuria.
SY   Glycogen storage disease IXd.
SY   GSD IXd.
SY   Muscle phosphorylase kinase deficiency.
SY   X-linked muscle glycogenosis.
DR   MIM; 300559; phenotype.
DR   MedGen; C1845151.
DR   MeSH; D006008.
KW   KW-0322:Glycogen storage disease.
//
ID   Glycogen storage disease of heart lethal congenital.
AC   DI-01676
AR   GSDH.
DE   Rare disease which leads to death within a few weeks to a few months
DE   after birth, through heart failure and respiratory compromise.
SY   Congenital nonlysosomal cardiac glycogenosis.
SY   Phosphorylase kinase deficiency of heart.
DR   MIM; 261740; phenotype.
DR   MedGen; C1849813.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 1.
AC   DI-01677
AR   GPIBD1.
DE   An autosomal recessive disorder characterized by portal vein
DE   thrombosis and portal hypertension, absence seizures, macrocephaly,
DE   splenomegaly, cytopenias and early-onset cerebral infarctions.
SY   Glycosylphosphatidylinositol deficiency.
SY   GPID.
DR   MIM; 610293; phenotype.
DR   MedGen; C1853205.
DR   MeSH; D012640.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 11.
AC   DI-04229
AR   GPIBD11.
DE   An autosomal recessive neurologic disorder characterized by
DE   developmental delay, intellectual disability, tonic seizures
DE   associated with hypsarrhythmia, dysmorphic facial features, and
DE   elevated serum alkaline phosphatase.
SY   HPMRS5.
DR   MIM; 616025; phenotype.
DR   MedGen; C4014958.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 15.
AC   DI-05160
AR   GPIBD15.
DE   An autosomal recessive disorder characterized by delayed psychomotor
DE   development, variable intellectual disability, hypotonia, early-onset
DE   seizures in most patients, and cerebellar atrophy, resulting in
DE   cerebellar signs including gait ataxia and dysarthria.
SY   Developmental delay, epilepsy, cerebellar atrophy, and osteopenia.
DR   MIM; 617810; phenotype.
DR   MedGen; CN698605.
DR   MeSH; D001847.
DR   MeSH; D001927.
DR   MeSH; D065886.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 16.
AC   DI-05164
AR   GPIBD16.
DE   An autosomal recessive disorder characterized by delayed psychomotor
DE   development, intellectual disability, and seizures.
SY   MRT62.
DR   MIM; 617816; phenotype.
DR   MedGen; CN703738.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 17.
AC   DI-05271
AR   GPIBD17.
DE   An autosomal recessive disorder characterized by variable neurologic
DE   deficits that become apparent in infancy or early childhood. Clinical
DE   features include learning disabilities, mild-to-moderate developmental
DE   delay, seizures of variable severity, aggressive or over-friendly
DE   behavior, and autistic features.
DR   MIM; 618010; phenotype.
DR   MedGen; CN248527.
DR   MeSH; D008607.
KW   KW-0887:Epilepsy.
KW   KW-1268:Autism spectrum disorder.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 18.
AC   DI-05347
AR   GPIBD18.
DE   An autosomal recessive disorder with onset in utero or early infancy
DE   and characterized by severe global developmental delay, seizures,
DE   hypotonia, weakness, ataxia, and dysmorphic facial features.
DR   MIM; 618143; phenotype.
DR   MedGen; CN257729.
DR   MeSH; D008607.
KW   KW-0887:Epilepsy.
//
ID   Glycosylphosphatidylinositol biosynthesis defect 25.
AC   DI-06475
AR   GPIBD25.
DE   An autosomal recessive disorder with onset in early infancy and
DE   characterized by global developmental delay with almost no milestone
DE   achievement, brain anomalies, hypotonia, and contractures. Death may
DE   occur in early childhood.
SY   Neurodevelopmental disorder with hypotonia and contractures.
DR   MIM; 619985; phenotype.
DR   MedGen; CN315915.
DR   MeSH; D008607.
//
ID   GM1-gangliosidosis 1.
AC   DI-00532
AR   GM1G1.
DE   An autosomal recessive lysosomal storage disease marked by the
DE   accumulation of GM1 gangliosides, glycoproteins and keratan sulfate
DE   primarily in neurons of the central nervous system. GM1-gangliosidosis
DE   type 1 is characterized by onset within the first three months of
DE   life, central nervous system degeneration, coarse facial features,
DE   hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler
DE   syndrome, and rapidly progressive psychomotor deterioration. Urinary
DE   oligosaccharide levels are high. It leads to death usually between the
DE   first and second year of life.
SY   Beta-galactosidase-1 deficiency.
SY   Gangliosidosis generalized GM1 infantile type.
SY   Gangliosidosis generalized GM1 type 1.
SY   GLB1 deficiency.
SY   GM1-gangliosidosis infantile.
DR   MIM; 230500; phenotype.
DR   MedGen; C0085131.
DR   MedGen; C0268271.
DR   MedGen; C1968747.
DR   MedGen; C1968748.
DR   MeSH; D016537.
KW   KW-0331:Gangliosidosis.
//
ID   GM1-gangliosidosis 2.
AC   DI-00533
AR   GM1G2.
DE   A gangliosidosis characterized by onset between ages 1 and 5. The main
DE   symptom is locomotor ataxia, ultimately leading to a state of
DE   decerebration with epileptic seizures. Patients do not display the
DE   skeletal changes associated with the infantile form, but they
DE   nonetheless excrete elevated amounts of beta-linked galactose-terminal
DE   oligosaccharides. Inheritance is autosomal recessive.
SY   Gangliosidosis generalized GM1 late infantile type.
SY   Gangliosidosis generalized GM1 type 2.
SY   GM1-gangliosidosis generalized juvenile type.
DR   MIM; 230600; phenotype.
DR   MedGen; C0268272.
DR   MedGen; C1968746.
DR   MeSH; D016537.
KW   KW-0331:Gangliosidosis.
//
ID   GM1-gangliosidosis 3.
AC   DI-00534
AR   GM1G3.
DE   A gangliosidosis with a variable phenotype. Patients show mild
DE   skeletal abnormalities, dysarthria, gait disturbance, dystonia and
DE   visual impairment. Visceromegaly is absent. Intellectual deficit can
DE   initially be mild or absent but progresses over time. Inheritance is
DE   autosomal recessive.
SY   Gangliosidosis generalized GM1 chronic type.
SY   Gangliosidosis generalized GM1 type 3.
SY   GM1-gangliosidosis generalized adult type.
DR   MIM; 230650; phenotype.
DR   MedGen; C0268273.
DR   MeSH; D016537.
KW   KW-0331:Gangliosidosis.
//
ID   GM2-gangliosidosis 1.
AC   DI-00536
AR   GM2G1.
DE   An autosomal recessive lysosomal storage disease marked by the
DE   accumulation of GM2 gangliosides in the neuronal cells. It is
DE   characterized by GM2 gangliosides accumulation in the absence of HEXA
DE   activity, leading to neurodegeneration and, in the infantile form,
DE   death in early childhood. It exists in several forms: infantile (most
DE   common and most severe), juvenile and adult (late-onset).
SY   GM2-gangliosidosis B variant.
SY   HEXA deficiency.
SY   Hexosaminidase A deficiency.
SY   Tay-Sachs disease.
SY   Tay-Sachs disease pseudo-AB variant.
SY   Tay-Sachs disease variant B1.
SY   TSD.
DR   MIM; 272800; phenotype.
DR   MedGen; C0039373.
DR   MedGen; C1848913.
DR   MedGen; C1848914.
DR   MedGen; C1848915.
DR   MedGen; C1848916.
DR   MedGen; C1848917.
DR   MedGen; C2749283.
DR   MedGen; CN068770.
DR   MedGen; CN068776.
DR   MeSH; D013661.
KW   KW-0331:Gangliosidosis.
KW   KW-0523:Neurodegeneration.
//
ID   GM2-gangliosidosis 2.
AC   DI-00537
AR   GM2G2.
DE   An autosomal recessive lysosomal storage disease marked by the
DE   accumulation of GM2 gangliosides in the neuronal cells. Clinically
DE   indistinguishable from GM2-gangliosidosis type 1, presenting startle
DE   reactions, early blindness, progressive motor and mental
DE   deterioration, macrocephaly and cherry-red spots on the macula.
SY   Hexosaminidase A and B deficiency.
SY   Sandhoff disease.
SY   SD.
DR   MIM; 268800; phenotype.
DR   MedGen; C0036161.
DR   MedGen; C1849320.
DR   MedGen; C1849321.
DR   MedGen; C1849322.
DR   MedGen; CN068767.
DR   MeSH; D012497.
KW   KW-0331:Gangliosidosis.
KW   KW-0523:Neurodegeneration.
//
ID   GM2-gangliosidosis AB.
AC   DI-00535
AR   GM2GAB.
DE   An autosomal recessive lysosomal storage disease marked by the
DE   accumulation of GM2 gangliosides in the neuronal cells. It is
DE   characterized by GM2 gangliosides accumulation in the presence of both
DE   normal hexosaminidase A and B.
SY   GM2 activator deficiency.
SY   GM2-gangliosidosis AB variant.
SY   Hexosaminidase activator deficiency.
SY   Tay-Sachs disease AB variant.
DR   MIM; 272750; phenotype.
DR   MedGen; C0268275.
DR   MeSH; D049290.
KW   KW-0331:Gangliosidosis.
//
ID   GNAS hyperfunction.
AC   DI-01678
AR   GNASHYP.
DE   This condition is characterized by increased trauma-related bleeding
DE   tendency, prolonged bleeding time, brachydactyly and intellectual
DE   disability. Both the XLas isoforms and the ALEX protein are mutated
DE   which strongly reduces the interaction between them and this may allow
DE   unimpeded activation of the XLas isoforms.
DR   MIM; 139320; gene+phenotype.
DR   MedGen; C1841727.
//
ID   Gnathodiaphyseal dysplasia.
AC   DI-01679
AR   GDD.
DE   Rare skeletal syndrome characterized by bone fragility, sclerosis of
DE   tubular bones, and cemento-osseous lesions of the jawbone. Patients
DE   experience frequent bone fractures caused by trivial accidents in
DE   childhood; however the fractures heal normally without bone deformity.
DE   The jaw lesions replace the tooth-bearing segments of the maxilla and
DE   mandible with fibrous connective tissues, including various amounts of
DE   cementum-like calcified mass, sometimes causing facial deformities.
DE   Patients also have a propensity for jaw infection and often suffer
DE   from purulent osteomyelitis-like symptoms, such as swelling of and pus
DE   discharge from the gums, mobility of the teeth, insufficient healing
DE   after tooth extraction and exposure of the lesions into the oral
DE   cavity.
SY   Gnathodiaphyseal sclerosis.
SY   Osteogenesis imperfecta with unusual skeletal lesions.
DR   MIM; 166260; phenotype.
DR   MedGen; C1833736.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Goiter multinodular 1, with or without Sertoli-Leydig cell tumors.
AC   DI-03075
AR   MNG1.
DE   A common disorder characterized by nodular overgrowth of the thyroid
DE   gland. Some individuals may also develop Sertoli-Leydig cell tumors,
DE   usually of the ovary.
SY   Euthyroid goiter.
SY   Goiter nontoxic with intrathyroidal calcification.
SY   Goiter non-toxic with intrathyroidal calcification.
SY   Multinodular goiter adolescent.
SY   Simple goiter.
DR   MIM; 138800; phenotype.
DR   MedGen; C0018022.
DR   MedGen; C0302859.
DR   MedGen; C3165522.
DR   MeSH; D006044.
//
ID   Goldberg-Shprintzen syndrome.
AC   DI-01681
AR   GOSHS.
DE   A disorder characterized by intellectual disability, microcephaly, and
DE   dysmorphic facial features. Most patients also have Hirschsprung
DE   disease.
SY   Goldberg-Shprintzen megacolon syndrome.
DR   MIM; 609460; phenotype.
DR   MedGen; C1836123.
DR   MeSH; D006627.
DR   MeSH; D019465.
KW   KW-0367:Hirschsprung disease.
//
ID   Gordon Holmes syndrome.
AC   DI-03788
AR   GDHS.
DE   A disease characterized by cerebellar symptoms and signs of sex
DE   steroid deficiency. Clinical features include cerebellar and brain
DE   stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency,
DE   hypogonadotrophic hypogonadism, lack of secondary sexual
DE   characteristics, and infertility.
SY   CAHH.
SY   Cerebellar ataxia and hypogonadotropic hypogonadism.
SY   Deficiency of luteinizing hormone-releasing hormone with ataxia.
SY   LHRH deficiency and ataxia.
DR   MIM; 212840; phenotype.
DR   MedGen; C1859305.
DR   MeSH; D002524.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Gracile bone dysplasia.
AC   DI-03712
AR   GCLEB.
DE   A perinatally lethal condition characterized by narrowing of the
DE   medullary cavity of the long bones and of the skull, gracile bones
DE   with thin diaphyses, premature closure of basal cranial sutures, and
DE   microphthalmia. Most affected individuals who survive beyond the
DE   perinatal period develop hypocalcemia with low parathyroid hormone
DE   levels.
SY   Habrodysplasia.
SY   Lethal skeletal dysplasia with gracile bones.
SY   Osteocraniosplenic syndrome.
SY   Osteocraniostenosis.
DR   MIM; 602361; phenotype.
DR   MedGen; C1865639.
DR   MeSH; D001848.
DR   MeSH; D019465.
//
ID   GRACILE syndrome.
AC   DI-01684
AR   GRACILE.
DE   GRACILE stands for 'growth retardation, aminoaciduria, cholestasis,
DE   iron overload, lactic acidosis, and early death'. It is a recessively
DE   inherited lethal disease characterized by fetal growth retardation,
DE   lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron
DE   metabolism.
DR   MIM; 603358; phenotype.
DR   MedGen; C1864002.
//
ID   Grange syndrome.
AC   DI-04954
AR   GRNG.
DE   An autosomal recessive syndrome of stenosis or occlusion of multiple
DE   arteries, including renal, abdominal, cerebral and probably coronary
DE   arteries, congenital heart defects, brachydactyly, syndactyly, bone
DE   fragility, and learning disabilities.
SY   Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly.
SY   Grange occlusive arterial syndrome.
DR   MIM; 602531; phenotype.
DR   MedGen; C1865267.
DR   MeSH; D001157.
//
ID   Granulomatous disease, chronic, autosomal recessive, 1.
AC   DI-00305
AR   CGD1.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens.
SY   Chronic granulomatous disease autosomal recessive cytochrome b-positive type I.
SY   Chronic granulomatous disease due to NCF1 deficiency.
SY   Deficiency of neutrophil cytosol factor 1.
SY   NCF1 deficiency.
SY   p47-PHOX deficiency.
SY   SOC2 deficiency.
SY   Soluble oxidase component II deficiency.
DR   MIM; 233700; phenotype.
DR   MedGen; C1856251.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Granulomatous disease, chronic, autosomal recessive, 2.
AC   DI-00306
AR   CGD2.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens.
SY   Chronic granulomatous disease autosomal recessive cytochrome b-positive type II.
SY   Deficiency of neutrophil cytosol factor 2.
SY   NCF2 deficiency.
SY   p67-PHOX deficiency.
DR   MIM; 233710; phenotype.
DR   MedGen; C1856245.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Granulomatous disease, chronic, autosomal recessive, 3.
AC   DI-03170
AR   CGD3.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens.
SY   CGD autosomal recessive cytochrome b-positive type III.
SY   Chronic granulomatous disease autosomal recessive cytochrome b-positive type III.
SY   Granulomatous disease chronic due to NCF4 deficiency.
DR   MIM; 613960; phenotype.
DR   MedGen; C3151409.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Granulomatous disease, chronic, autosomal recessive, 4.
AC   DI-00304
AR   CGD4.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens.
SY   CGD due to deficiency of alpha subunit of cytochrome b.
SY   Chronic granulomatous disease autosomal recessive cytochrome b-negative.
SY   CYBA deficiency.
SY   Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive.
DR   MIM; 233690; phenotype.
DR   MedGen; C1856255.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Granulomatous disease, chronic, autosomal recessive, 5.
AC   DI-05870
AR   CGD5.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens. CGD5 is an autosomal
DE   recessive form characterized by onset of recurrent infections and
DE   severe colitis in the first decade of life. Clinical manifestations
DE   include increased susceptibility to catalase-positive organisms,
DE   features of inflammatory bowel disease, lymphopenia, lymphadenitis,
DE   and autoinflammatory symptoms in some patients.
SY   Granulomatous disease, chronic, due to CYBC1 deficiency.
DR   MIM; 618935; phenotype.
DR   MedGen; CN283260.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Granulomatous disease, chronic, X-linked.
AC   DI-00307
AR   CGDX.
DE   A form of chronic granulomatous disease, a primary immunodeficiency
DE   characterized by severe recurrent bacterial and fungal infections,
DE   along with manifestations of chronic granulomatous inflammation. It
DE   results from an impaired ability of phagocytes to mount a burst of
DE   reactive oxygen species in response to pathogens.
SY   Chronic granulomatous disease cytochrome b-negative X-linked.
SY   Chronic granulomatous disease cytochrome b-positive X-linked.
DR   MIM; 306400; phenotype.
DR   MedGen; C1844376.
DR   MedGen; C1844378.
DR   MedGen; C1844379.
DR   MeSH; D006105.
KW   KW-0161:Chronic granulomatous disease.
//
ID   Gray platelet syndrome.
AC   DI-03181
AR   GPS.
DE   A rare platelet disorder characterized by a selective deficiency in
DE   the number and contents of platelet alpha-granules. It is associated
DE   with mild to moderate bleeding tendency and moderate thrombocytopenia.
DE   The platelets are enlarged and have a gray appearance on light
DE   microscopy of Wright-stained peripheral blood smears due to decreased
DE   granules.
SY   BDPLT4.
SY   Bleeding disorder platelet-type 4.
SY   Grey platelet syndrome.
SY   Platelet alpha-granule deficiency.
DR   MIM; 139090; phenotype.
DR   MedGen; C0272302.
DR   MeSH; D055652.
//
ID   Greenberg dysplasia.
AC   DI-01761
AR   GRBGD.
DE   A rare autosomal recessive chondrodystrophy characterized by early in
DE   utero lethality. Affected fetuses typically present with fetal
DE   hydrops, short-limbed dwarfism, and a marked disorganization of
DE   chondro-osseous calcification, and ectopic ossification centers.
SY   Chondrodystrophy, hydropic and prenatally lethal type.
SY   HEM skeletal dysplasia.
SY   Hydrops-ectopic calcification-moth-eaten skeletal dysplasia.
SY   Moth-eaten skeletal dysplasia.
DR   MIM; 215140; phenotype.
DR   MedGen; C1300226.
DR   MedGen; C2931048.
DR   MeSH; D010009.
//
ID   Greig cephalo-poly-syndactyly syndrome.
AC   DI-01685
AR   GCPS.
DE   Autosomal dominant disorder affecting limb and craniofacial
DE   development. It is characterized by pre- and postaxial polydactyly,
DE   syndactyly of fingers and toes, macrocephaly and hypertelorism.
DR   MIM; 175700; phenotype.
DR   MedGen; C0265306.
//
ID   Griscelli syndrome 1.
AC   DI-01686
AR   GS1.
DE   Rare autosomal recessive disorder that results in pigmentary dilution
DE   of the skin and hair, the presence of large clumps of pigment in hair
DE   shafts, silvery-gray hair and accumulation of melanosomes in
DE   melanocytes. GS1 patients show developmental delay, hypotonia and
DE   intellectual disability, without apparent immune abnormalities.
SY   Griscelli syndrome with primary neurologic impairment.
DR   MIM; 214450; phenotype.
DR   MedGen; C1859194.
//
ID   Griscelli syndrome 2.
AC   DI-01687
AR   GS2.
DE   Rare autosomal recessive disorder that results in pigmentary dilution
DE   of the skin and hair, the presence of large clumps of pigment in hair
DE   shafts, and an accumulation of melanosomes in melanocytes. GS2
DE   patients also develop an uncontrolled T-lymphocyte and macrophage
DE   activation syndrome, known as hemophagocytic syndrome, leading to
DE   death in the absence of bone marrow transplantation. Neurological
DE   impairment is present in some patients, likely as a result of
DE   hemophagocytic syndrome.
DR   MIM; 607624; phenotype.
DR   MedGen; C1868679.
//
ID   Griscelli syndrome 3.
AC   DI-01688
AR   GS3.
DE   Rare autosomal recessive disorder characterized by pigmentary dilution
DE   of the skin and hair, the presence of large clumps of pigment in hair
DE   shafts, and an accumulation of melanosomes in melanocytes, without
DE   other clinical manifestations.
DR   MIM; 609227; phenotype.
DR   MedGen; C1836573.
//
ID   Growth hormone deficiency with pituitary anomalies.
AC   DI-02581
AR   GHDPA.
DE   A disease characterized by low or absent growth hormone levels, in the
DE   presence of a hypoplastic anterior pituitary lobe and ectopic or
DE   absent posterior pituitary lobe.
DR   MIM; 182230; phenotype.
DR   MedGen; C2750027.
DR   MeSH; D007018.
//
ID   Growth hormone deficiency, isolated partial.
AC   DI-04331
AR   GHDP.
DE   A disorder characterized by partial growth hormone deficiency
DE   resulting in growth delay and short stature, sometimes associated with
DE   recurrent episodes of abdominal pain, vomiting, ketosis and
DE   hypoglycemia.
DR   MIM; 615925; phenotype.
DR   MedGen; C1858656.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone deficiency, isolated, 1A.
AC   DI-01841
AR   IGHD1A.
DE   An autosomal recessive, severe deficiency of growth hormone leading to
DE   dwarfism. Patients often develop antibodies to administered growth
DE   hormone.
SY   Growth hormone deficiency isolated autosomal recessive.
SY   IGHD IA.
SY   Illig-type growth hormone deficiency.
SY   Isolated growth hormone deficiency type IA.
SY   Pituitary dwarfism I.
SY   Primordial dwarfism.
SY   Sexual ateleiotic dwarfism.
DR   MIM; 262400; phenotype.
DR   MedGen; C0342573.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone deficiency, isolated, 1B.
AC   DI-03019
AR   IGHD1B.
DE   An autosomal recessive deficiency of growth hormone leading to short
DE   stature. Patients have low but detectable levels of growth hormone,
DE   significantly retarded bone age, and a positive response and
DE   immunologic tolerance to growth hormone therapy.
SY   IGHD IB.
SY   Isolated growth hormone deficiency type IB.
SY   Pituitary dwarfism I.
DR   MIM; 612781; phenotype.
DR   MedGen; C2748571.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone deficiency, isolated, 2.
AC   DI-01842
AR   IGHD2.
DE   An autosomal dominant deficiency of growth hormone leading to short
DE   stature. Clinical severity is variable. Patients have a positive
DE   response and immunologic tolerance to growth hormone therapy.
SY   Growth hormone deficiency isolated autosomal dominant.
SY   IGHD II.
SY   Isolated growth hormone deficiency type II.
SY   Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant.
DR   MIM; 173100; phenotype.
DR   MedGen; C0271567.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone deficiency, isolated, 3, with agammaglobulinemia.
AC   DI-02446
AR   IGHD3.
DE   An X-linked recessive disorder characterized by growth hormone
DE   deficiency, short stature, delayed bone age, agammaglobulinemia with
DE   markedly reduced numbers of B cells, and good response to treatment
DE   with growth hormone.
SY   Agammaglobulinemia and isolated growth hormone deficiency.
SY   Fleisher syndrome.
SY   Isolated growth hormone deficiency, type III, with agammaglobulinemia.
SY   Isolated growth hormone deficiency type 3.
SY   X-linked hypogammaglobulinemia and isolated growth hormone deficiency.
DR   MIM; 307200; phenotype.
DR   MedGen; C0472813.
DR   MeSH; D000361.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone deficiency, isolated, 4.
AC   DI-05358
AR   IGHD4.
DE   An autosomal recessive deficiency of growth hormone leading to early
DE   and severe growth failure and short stature. Patients have low but
DE   detectable levels of growth hormone, significantly retarded bone age,
DE   and a positive response and immunologic tolerance to growth hormone
DE   therapy.
SY   Dwarfism of Sindh.
SY   Growth hormone deficiency, isolated, type IV.
SY   Isolated growth hormone deficiency, type IV.
DR   MIM; 618157; phenotype.
DR   MedGen; CN257748.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive.
AC   DI-01878
AR   GHISID1.
DE   An autosomal recessive form of growth hormone insensitivity syndrome,
DE   a congenital disease characterized by short stature, growth hormone
DE   deficiency in the presence of normal to elevated circulating
DE   concentrations of growth hormone, resistance to exogeneous growth
DE   hormone therapy, and recurrent infections. Most, but not all, patients
DE   have features of immune dysregulation.
SY   Growth hormone insensitivity due to postreceptor defect.
SY   Laron syndrome due to a post-receptor defect.
SY   Laron syndrome type II.
SY   Laron type dwarfism II.
DR   MIM; 245590; phenotype.
DR   MedGen; C1855548.
DR   MeSH; D046150.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant.
AC   DI-05897
AR   GHISID2.
DE   An autosomal dominant form of growth hormone insensitivity syndrome, a
DE   congenital disease characterized by short stature, growth hormone
DE   deficiency in the presence of normal to elevated circulating
DE   concentrations of growth hormone, resistance to exogeneous growth
DE   hormone therapy, and recurrent infections. GHISID2 patients usually
DE   have delayed bone age, delayed puberty, and decreased serum IGF1. Some
DE   patients may have features of mild immune dysregulation, such as
DE   eczema, increased serum IgE, asthma, or celiac disease.
DR   MIM; 618985; phenotype.
DR   MedGen; CN283329.
DR   MeSH; D046150.
KW   KW-0242:Dwarfism.
//
ID   Growth hormone insensitivity, partial.
AC   DI-02300
AR   GHIP.
DE   A disease characterized by partial resistance to growth hormone
DE   resulting in short stature. Short stature is defined by a standing
DE   height more than 2 standard deviations below the mean (or below the
DE   2.5 percentile) for sex and chronological age, compared with a well-
DE   nourished, healthy, genetically relevant population.
SY   Isolated partial growth hormone deficiency.
SY   Partial IGHD.
DR   MIM; 604271; phenotype.
DR   MedGen; C1858656.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.
AC   DI-06106
AR   GKAF.
DE   An autosomal recessive disorder characterized by pre- and postnatal
DE   growth restriction with microcephaly, distinctive craniofacial
DE   features, congenital alopecia, hypoplastic kidneys with renal
DE   insufficiency, global developmental delay, severe congenital
DE   sensorineural hearing loss, hydrocephalus, genital hypoplasia, and
DE   early mortality.
DR   MIM; 619321; phenotype.
DR   MedGen; CN296673.
DR   MeSH; D000505.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-1063:Hypotrichosis.
//
ID   Growth retardation, developmental delay, and facial dysmorphism.
AC   DI-02561
AR   GDFD.
DE   A severe polymalformation syndrome characterized by postnatal growth
DE   retardation, microcephaly, severe psychomotor delay, functional brain
DE   deficits and characteristic facial dysmorphism. In some patients,
DE   structural brain malformations, cardiac defects, genital anomalies,
DE   and cleft palate are observed. Early death occurs by the age of 3
DE   years.
SY   Growth retardation developmental delay coarse facies early death.
SY   Lethal polymalformative syndrome Boissel type.
DR   MIM; 612938; phenotype.
DR   MedGen; C2752001.
DR   MeSH; D000015.
//
ID   Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
AC   DI-04841
AR   GRIDHH.
DE   An autosomal recessive disorder characterized by severe growth
DE   retardation with prenatal onset, intellectual disability, muscular
DE   hypotonia, and hepatic dysfunction.
DR   MIM; 617093; phenotype.
DR   MedGen; CN238100.
DR   MeSH; D006130.
DR   MeSH; D008107.
DR   MeSH; D008607.
DR   MeSH; D009123.
KW   KW-0991:Intellectual disability.
//
ID   Guttmacher syndrome.
AC   DI-01691
AR   GUTTS.
DE   Dominantly inherited combination of distal limb and genital tract
DE   abnormalities. It has several features in common with hand-foot-
DE   genital syndrome, including hypoplastic first digits and hypospadias.
DE   Typical features not seen in hand-foot-genital syndrome include
DE   postaxial polydactyly of the hands and uniphalangeal second toes with
DE   absent nails.
DR   MIM; 176305; phenotype.
DR   MedGen; C1867801.
//
ID   Hailey-Hailey disease.
AC   DI-01693
AR   HHD.
DE   Autosomal dominant disorder characterized by persistent blisters and
DE   suprabasal cell separation (acantholysis) of the epidermis, due to
DE   impaired keratinocyte adhesion. Patients lacking all isoforms except
DE   isoform 2 have HHD.
SY   Benign familial pemphigus.
DR   MIM; 169600; phenotype.
DR   MedGen; C0085106.
//
ID   Haim-Munk syndrome.
AC   DI-00539
AR   HMS.
DE   An autosomal recessive disorder characterized by palmoplantar
DE   keratosis, onychogryphosis and periodontitis. Additional features are
DE   pes planus, arachnodactyly, and acroosteolysis.
SY   Cochin Jewish disorder.
SY   Keratosis palmoplantaris with periodontopathia and onychogryposis.
DR   MIM; 245010; phenotype.
DR   MedGen; C1855627.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Hajdu-Cheney syndrome.
AC   DI-02985
AR   HJCYS.
DE   A rare, autosomal dominant skeletal disorder characterized by the
DE   association of facial anomalies, acro-osteolysis, general
DE   osteoporosis, insufficient ossification of the skull, and periodontal
DE   disease (premature loss of permanent teeth). Other features include
DE   cleft palate, congenital heart defects, polycystic kidneys, orthopedic
DE   problems and anomalies of the genitalia, intestines and eyes.
SY   Acroosteolysis with osteoporosis and changes in skull and mandible.
SY   Arthrodentoosteodysplasia.
SY   Cheney syndrome.
SY   HCS.
SY   Serpentine Fibula-Polycystic Kidney Syndrome.
SY   Serpentine fibula syndrome.
SY   SFPKS.
DR   MIM; 102500; phenotype.
DR   MedGen; C0917715.
DR   MedGen; C1838257.
DR   MeSH; D031845.
//
ID   Hallermann-Streiff syndrome.
AC   DI-02798
AR   HSS.
DE   A disorder characterized by a typical skull shape (brachycephaly with
DE   frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked
DE   nose, micrognathia, skin atrophy, dental anomalies and proportionate
DE   short stature. Intellectual disability is present in a minority of
DE   cases.
SY   Francois dyscephalic syndrome.
DR   MIM; 234100; phenotype.
DR   MedGen; C0018522.
DR   MeSH; D006210.
//
ID   Halperin-Birk syndrome.
AC   DI-05697
AR   HLBKS.
DE   An autosomal recessive, congenital neurodevelopmental disorder
DE   characterized by intrauterine growth retardation, microcephaly, marked
DE   developmental delay, spastic quadriplegia with profound contractures,
DE   pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism,
DE   neurosensory deafness, optic nerve atrophy with no eye fixation, and
DE   death in early childhood. Brain imaging shows semilobar
DE   holoprosencephaly and agenesis of corpus callosum.
SY   NEDSOSB.
SY   Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies.
DR   MIM; 618651; phenotype.
DR   MedGen; CN262656.
DR   MeSH; D065886.
//
ID   Hamamy syndrome.
AC   DI-03480
AR   HMMS.
DE   A syndrome characterized by severe hypertelorism, upslanting palpebral
DE   fissures, brachycephaly, abnormal ears, sloping shoulders, enamel
DE   hypoplasia, and osteopenia with repeated fractures. Additional
DE   features include myopia, mild to moderate sensorineural hearing loss,
DE   gonadal anomalies and borderline intelligence.
DR   MIM; 611174; phenotype.
DR   MedGen; C1970027.
DR   MeSH; D006972.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Hand-foot-genital syndrome.
AC   DI-01694
AR   HFG.
DE   A disorder characterized by limb and genitourinary anomalies. Clinical
DE   features include small feet with unusually short great toes and
DE   abnormal thumbs. Females with the disorder have duplication of the
DE   genital tract.
SY   Hand-foot-uterus syndrome.
SY   HFG syndrome.
SY   HFU.
SY   HFU syndrome.
DR   MIM; 140000; phenotype.
DR   MedGen; C1841679.
DR   MeSH; D014564.
DR   MeSH; D017880.
//
ID   Hao-Fountain syndrome.
AC   DI-05866
AR   HAFOUS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, varying degrees of intellectual
DE   disability, autism spectrum disorder, poor or absent speech, and mild
DE   facial dysmorphism. Most patients develop seizures. Additional
DE   variable features include hypotonia, hypogonadism in males, and ocular
DE   anomalies.
SY   Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies.
DR   MIM; 616863; phenotype.
DR   MedGen; C4225667.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Harderoporphyria.
AC   DI-05848
AR   HARPO.
DE   An autosomal recessive form of porphyria. Porphyrias are inherited
DE   defects in the biosynthesis of heme, resulting in the accumulation and
DE   increased excretion of porphyrins or porphyrin precursors. HARPO is a
DE   rare erythropoietic variant form characterized by neonatal hemolytic
DE   anemia, sometimes accompanied by skin lesions, and massive excretion
DE   of harderoporphyrin in feces.
DR   MIM; 618892; phenotype.
DR   MedGen; C0342859.
DR   MeSH; D011164.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hardikar syndrome.
AC   DI-06282
AR   HDKR.
DE   An X-linked dominant, multiple congenital anomaly syndrome
DE   characterized by foregut malformations, intestinal malrotation, liver
DE   and biliary tract disease, genitourinary abnormalities, facial
DE   clefting, and pigmentary retinopathy. Some patients may have
DE   congenital cardiac defects or vascular abnormalities, including aortic
DE   coarctation and carotid/intracranial aneurysms. Neurodevelopment and
DE   cognition is normal.
SY   Cholestasis with pigmentary retinopathy and cleft palate syndrome.
DR   MIM; 301068; phenotype.
DR   MedGen; C0795969.
DR   MeSH; D000015.
//
ID   Harel-Yoon syndrome.
AC   DI-04881
AR   HAYOS.
DE   A syndrome characterized by global developmental delay, hypotonia,
DE   intellectual disability, and axonal neuropathy. Some patients have
DE   optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can
DE   be autosomal dominant or autosomal recessive.
DR   MIM; 617183; phenotype.
DR   MedGen; CN239114.
DR   MeSH; D065886.
//
ID   Hartnup disorder.
AC   DI-01695
AR   HND.
DE   Autosomal recessive abnormality of renal and gastrointestinal neutral
DE   amino acid transport noted for its clinical variability. First
DE   described in 1956, HND is characterized by increases in the urinary
DE   and intestinal excretion of neutral amino acids. Individuals with
DE   typical Hartnup aminoaciduria may be asymptomatic, some develop a
DE   photosensitive pellagra-like rash, attacks of cerebellar ataxia and
DE   other neurological or psychiatric features. Although the definition of
DE   HND was originally based on clinical and biochemical abnormalities,
DE   its marked clinical heterogeneity has led to it being known as a
DE   disorder with a consistent pathognomonic neutral hyperaminoaciduria.
DR   MIM; 234500; phenotype.
DR   MedGen; C0018609.
//
ID   Hartsfield syndrome.
AC   DI-03909
AR   HRTFDS.
DE   A syndrome characterized by the triad of holoprosencephaly,
DE   ectrodactyly, and cleft/lip palate. Profound intellectual disability
DE   is also present. Multiple other congenital anomalies usually occur.
SY   Holoprosencephaly, ectrodactyly and bilateral cleft lip/palate.
DR   MIM; 615465; phenotype.
DR   MedGen; C1845146.
DR   MeSH; D002971.
DR   MeSH; D002972.
DR   MeSH; D006228.
DR   MeSH; D008607.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
KW   KW-0991:Intellectual disability.
//
ID   Hatipoglu immunodeficiency syndrome.
AC   DI-06660
AR   HATIS.
DE   An autosomal recessive immunologic disorder manifesting in infancy or
DE   early childhood, and characterized by failure to thrive, short
DE   stature, skin pigmentation abnormalities, pancytopenia, and
DE   susceptibility to recurrent infections.
SY   IMD111.
SY   Immunodeficiency 111.
DR   MIM; 620331; phenotype.
DR   MedGen; CN327028.
DR   MeSH; D007153.
//
ID   Hawkinsinuria.
AC   DI-00540
AR   HWKS.
DE   An inborn error of tyrosine metabolism characterized by failure to
DE   thrive, persistent metabolic acidosis, fine and sparse hair, and
DE   excretion of the unusual cyclic amino acid metabolite, hawkinsin, in
DE   the urine.
SY   4-alpha-hydroxyphenylpyruvate hydroxylase deficiency.
SY   4-HPPD deficiency.
SY   4-hydroxyphenylpyruvic acid dioxygenase deficiency.
DR   MIM; 140350; phenotype.
DR   MedGen; C2931042.
DR   MeSH; D020176.
//
ID   Heart and brain malformation syndrome.
AC   DI-04734
AR   HBMS.
DE   An autosomal recessive syndrome characterized by multiple congenital
DE   anomalies such as cardiac defects, brain malformations, including
DE   cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy-
DE   Walker malformation, profoundly delayed psychomotor development,
DE   microphthalmia, and facial dysmorphism.
SY   NEDHBM.
SY   Neurodevelopmental disorder with heart and brain malformations.
DR   MIM; 616920; phenotype.
DR   MedGen; CN236407.
DR   MeSH; D000015.
//
ID   Heart-hand syndrome Slovenian type.
AC   DI-01697
AR   HHS-Slovenian.
DE   Heart-hand syndrome (HHS) is a clinically and genetically
DE   heterogeneous disorder characterized by the co-occurrence of a
DE   congenital cardiac disease and limb malformations.
DR   MIM; 610140; phenotype.
DR   MedGen; C1857829.
//
ID   Heimler syndrome 1.
AC   DI-04563
AR   HMLR1.
DE   A form of Heimler syndrome, a very mild peroxisome biogenesis disorder
DE   characterized by sensorineural hearing loss, amelogenesis imperfecta
DE   resulting in enamel hyoplasia of the secondary dentition, nail
DE   defects, and occasional or late-onset retinal pigmentation
DE   abnormalities.
SY   Deafness enamel hypoplasia nail defects.
SY   Hearing loss, sensorineural, with enamel hypoplasia and nail defects.
SY   PBD1C.
SY   Peroxisome biogenesis disorder 1C.
SY   Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities.
DR   MIM; 234580; phenotype.
DR   MedGen; C1856186.
DR   MeSH; D000567.
DR   MeSH; D006319.
DR   MeSH; D009260.
KW   KW-0209:Deafness.
KW   KW-0958:Peroxisome biogenesis disorder.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Heimler syndrome 2.
AC   DI-04564
AR   HMLR2.
DE   A form of Heimler syndrome, a very mild peroxisome biogenesis disorder
DE   characterized by sensorineural hearing loss, amelogenesis imperfecta
DE   resulting in enamel hyoplasia of the secondary dentition, nail
DE   defects, and occasional or late-onset retinal pigmentation
DE   abnormalities.
SY   PBD4C.
SY   Peroxisome biogenesis disorder 4C.
DR   MIM; 616617; phenotype.
DR   MedGen; CN233185.
DR   MeSH; D000567.
DR   MeSH; D006319.
DR   MeSH; D009260.
KW   KW-0209:Deafness.
KW   KW-0958:Peroxisome biogenesis disorder.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Heinz body anemias.
AC   DI-01698
AR   HEIBAN.
DE   Form of non-spherocytic hemolytic anemia of Dacie type 1. After
DE   splenectomy, which has little benefit, basophilic inclusions called
DE   Heinz bodies are demonstrable in the erythrocytes. Before splenectomy,
DE   diffuse or punctate basophilia may be evident. Most of these cases are
DE   probably instances of hemoglobinopathy. The hemoglobin demonstrates
DE   heat lability. Heinz bodies are observed also with the Ivemark
DE   syndrome (asplenia with cardiovascular anomalies) and with glutathione
DE   peroxidase deficiency.
DR   MIM; 140700; phenotype.
DR   MedGen; C0700299.
//
ID   HELIX syndrome.
AC   DI-05081
AR   HELIX.
DE   An autosomal recessive disease characterized by congenital heat
DE   intolerance, generalized anhidrosis, inability to produce tears, dry
DE   mouth, electrolyte imbalance, and ichthyosis.
SY   Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.
DR   MIM; 617671; phenotype.
DR   MedGen; CN469329.
DR   MeSH; D000015.
KW   KW-0977:Ichthyosis.
//
ID   Helsmoortel-van der Aa syndrome.
AC   DI-04149
AR   HVDAS.
DE   A disorder characterized by intellectual disability, autism spectrum
DE   disorder, and dysmorphic facial features including prominent forehead,
DE   high hairline, downslanting palpebral fissures, notched eyelids, broad
DE   nasal bridge, thin upper lip, and smooth philtrum.
SY   MRD28.
DR   MIM; 615873; phenotype.
DR   MedGen; CN189714.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Hemangioma, capillary infantile.
AC   DI-02546
AR   HCI.
DE   A condition characterized by dull red, firm, dome-shaped hemangiomas,
DE   sharply demarcated from surrounding skin, usually presenting at birth
DE   or occurring within the first two or three months of life. They result
DE   from highly proliferative, localized growth of capillary endothelium
DE   and generally undergo regression and involution without scarring.
SY   Hemangioma hereditary capillary.
DR   MIM; 602089; phenotype.
DR   MedGen; C1865871.
DR   MeSH; D018324.
//
ID   Hematuria, benign familial, 1.
AC   DI-01271
AR   BFH1.
DE   An autosomal dominant condition characterized by non-progressive
DE   isolated microscopic hematuria that does not result in renal failure.
DE   It is characterized pathologically by thinning of the glomerular
DE   basement membrane.
SY   Thin basement membrane nephropathy.
SY   Thin membrane nephropathy.
SY   TMN.
DR   MIM; 141200; phenotype.
DR   MedGen; C0241908.
DR   MedGen; C0403440.
DR   MeSH; D006417.
//
ID   Hematuria, benign familial, 2.
AC   DI-06644
AR   BFH2.
DE   An autosomal dominant condition characterized by non-progressive
DE   isolated microscopic hematuria that does not result in renal failure.
DE   It is characterized pathologically by thinning of the glomerular
DE   basement membrane.
DR   MIM; 620320; phenotype.
DR   MedGen; CN325325.
DR   MeSH; D006417.
//
ID   Heme oxygenase 1 deficiency.
AC   DI-03193
AR   HMOX1D.
DE   A disease characterized by impaired stress hematopoiesis, resulting in
DE   marked erythrocyte fragmentation and intravascular hemolysis,
DE   coagulation abnormalities, endothelial damage, and iron deposition in
DE   renal and hepatic tissues. Clinical features include persistent
DE   hemolytic anemia, asplenia, nephritis, generalized erythematous rash,
DE   growth retardation and hepatomegaly.
DR   MIM; 614034; phenotype.
DR   MedGen; C1841651.
DR   MeSH; D000743.
//
ID   Hemochromatosis 1.
AC   DI-01714
AR   HFE1.
DE   A disorder of iron metabolism characterized by iron overload. Excess
DE   iron is deposited in a variety of organs leading to their failure, and
DE   resulting in serious illnesses including cirrhosis, hepatomas,
DE   diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE   hypogonadism. Severe effects of the disease usually do not appear
DE   until after decades of progressive iron loading.
SY   Hemochromatosis type 1.
SY   Hereditary hemochromatosis.
SY   HH.
SY   HLAH.
SY   Primary hereditary hemochromatosis.
DR   MIM; 235200; phenotype.
DR   MedGen; C0392514.
DR   MeSH; D006432.
//
ID   Hemochromatosis 2A.
AC   DI-01699
AR   HFE2A.
DE   A juvenile form of hemochromatosis, a disorder of iron metabolism with
DE   excess deposition of iron in a variety of organs leading to their
DE   failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and
DE   diabetes. The most common symptoms of juvenile hemochromatosis at
DE   presentation are hypogonadism and cardiomyopathy.
SY   HEFE2.
SY   Hemochromatosis type 2.
SY   JH.
SY   Juvenile hemochromatosis.
DR   MIM; 602390; phenotype.
DR   MedGen; C0268060.
DR   MedGen; C1865614.
DR   MeSH; D006432.
//
ID   Hemochromatosis 2B.
AC   DI-01700
AR   HFE2B.
DE   A juvenile form of hemochromatosis, a disorder of iron metabolism with
DE   excess deposition of iron in a variety of organs leading to their
DE   failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and
DE   diabetes. The most common symptoms of juvenile hemochromatosis at
DE   presentation are hypogonadism and cardiomyopathy.
DR   MIM; 613313; phenotype.
DR   MedGen; C1865616.
DR   MeSH; D006432.
//
ID   Hemochromatosis 3.
AC   DI-01715
AR   HFE3.
DE   A disorder of iron metabolism characterized by iron overload. Excess
DE   iron is deposited in a variety of organs leading to their failure, and
DE   resulting in serious illnesses including cirrhosis, hepatomas,
DE   diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE   hypogonadism. Severe effects of the disease usually do not appear
DE   until after decades of progressive iron loading.
SY   Hemochromatosis due to defect in transferrin receptor 2.
DR   MIM; 604250; phenotype.
DR   MedGen; C1858664.
DR   MeSH; D006432.
//
ID   Hemochromatosis 4.
AC   DI-01701
AR   HFE4.
DE   A disorder of iron metabolism characterized by iron overload. Excess
DE   iron is deposited in a variety of organs leading to their failure, and
DE   resulting in serious illnesses including cirrhosis, hepatomas,
DE   diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE   hypogonadism. Severe effects of the disease usually do not appear
DE   until after decades of progressive iron loading.
SY   Hemochromatosis autosomal dominant.
SY   Hemochromatosis due to defect in ferroportin.
DR   MIM; 606069; phenotype.
DR   MedGen; C1853733.
DR   MeSH; D006432.
//
ID   Hemochromatosis 5.
AC   DI-03942
AR   HFE5.
DE   A disorder of iron metabolism characterized by iron overload. Excess
DE   iron is deposited in a variety of organs leading to their failure, and
DE   resulting in serious illnesses including cirrhosis, hepatomas,
DE   diabetes, cardiomyopathy, arthritis, and hypogonadotropic
DE   hypogonadism. Severe effects of the disease usually do not appear
DE   until after decades of progressive iron loading.
SY   Autosomal dominant iron overload.
SY   Hemochromatosis type 5.
DR   MIM; 615517; phenotype.
DR   MedGen; CN181217.
DR   MeSH; D006432.
//
ID   Hemoglobin H disease.
AC   DI-03202
AR   HBH.
DE   A form of alpha-thalassemia due to the loss of three alpha genes. This
DE   results in high levels of a tetramer of four beta chains (hemoglobin
DE   H), causing a severe and life-threatening anemia. Untreated, most
DE   patients die in childhood or early adolescence.
SY   Alpha-thalassemia hemoglobin H type.
SY   Hemoglobin H disease deletional.
SY   Hemoglobin H disease non-deletional.
DR   MIM; 613978; phenotype.
DR   MedGen; C3161174.
DR   MedGen; C3279561.
DR   MeSH; D017085.
//
ID   Hemolytic anemia due to adenylate kinase deficiency.
AC   DI-01702
AR   HAAKD.
DE   A disease characterized by hemolytic anemia and undetectable
DE   erythrocyte adenylate kinase activity.
DR   MIM; 612631; phenotype.
DR   MedGen; C2675459.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia due to elevated adenosine deaminase.
AC   DI-06440
AR   HAEADA.
DE   An X-linked disorder characterized by onset of mild to moderate red
DE   cell anemia soon after birth or in childhood. The anemia is associated
DE   with significantly increased adenosine deaminase activity,
DE   specifically in erythrocyte precursors.
SY   Hemolytic anemia due to elevated erythrocyte ADA.
SY   Hemolytic anemia due to erythrocyte adenosine deaminase overproduction.
DR   MIM; 301083; phenotype.
DR   MedGen; C1863235.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency.
AC   DI-01703
AR   HAGGSD.
DE   A disease characterized by hemolytic anemia, glutathione deficiency,
DE   myopathy, late-onset spinocerebellar degeneration, and peripheral
DE   neuropathy.
DR   MIM; 230450; phenotype.
DR   MedGen; C1856603.
DR   MeSH; D000743.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia due to glutathione reductase deficiency.
AC   DI-05704
AR   HAGRD.
DE   An autosomal recessive disease characterized by hemolytic anemia and
DE   impaired activity of glutathione reductase. Patients experience
DE   hemolytic anemia in response to oxidative stress or ingestion of fava
DE   beans.
DR   MIM; 618660; phenotype.
DR   MedGen; CN262919.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia, CD59-mediated, with or without polyneuropathy.
AC   DI-01329
AR   HACD59.
DE   An autosomal recessive disorder characterized by infantile onset of
DE   chronic hemolysis and a relapsing-remitting polyneuropathy, often
DE   exacerbated by infection, and manifested as hypotonia, limb muscle
DE   weakness, and hyporeflexia.
SY   CD59 deficiency.
SY   CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy.
DR   MIM; 612300; phenotype.
DR   MedGen; C2676767.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia, congenital, X-linked.
AC   DI-05302
AR   HACXL.
DE   An X-linked hematologic disease characterized by shortened survival of
DE   erythrocytes due to congenital hemolysis that cannot be compensated by
DE   bone marrow activity. Clinical features are mild jaundice and anemia.
DE   Red cells morphology is normal.
DR   MIM; 301015; phenotype.
DR   MedGen; CN253426.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency.
AC   DI-01729
AR   HA-GPID.
DE   A form of anemia in which there is no abnormal hemoglobin or
DE   spherocytosis. It is caused by glucose phosphate isomerase deficiency.
DR   MIM; 613470; phenotype.
DR   MedGen; C3150730.
DR   MeSH; D000746.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Hemolytic disease of fetus and newborn, RH-induced.
AC   DI-06174
AR   HDFNRH.
DE   A disease that occurs in pregnancies in which mothers who lack the D
DE   antigen (RhD) of the Rh blood group have been exposed to the RhD-
DE   positive red cells of the fetus. The resulting maternal autoantibodies
DE   cross the placenta and destroy fetal red cells.
SY   RH disease.
SY   RH fetomaternal incompatibility.
DR   MIM; 619462; phenotype.
DR   MedGen; CN300241.
DR   MeSH; D004899.
//
ID   Hemolytic uremic syndrome, atypical, 1.
AC   DI-01704
AR   AHUS1.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   AHUS.
SY   Atypical hemolytic uremic syndrome with H factor anomaly.
SY   D(-)HUS.
SY   Hemolytic-uremic syndrome.
SY   Hemolytic-uremic syndrome without diarrhea.
DR   MIM; 235400; phenotype.
DR   MedGen; C1856143.
DR   MedGen; C2749604.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 2.
AC   DI-02597
AR   AHUS2.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   Atypical hemolytic uremic with MCP or CD46 anomaly.
DR   MIM; 612922; phenotype.
DR   MedGen; C2752040.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 3.
AC   DI-02598
AR   AHUS3.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   Atypical hemolytic uremic syndrome with I factor anomaly.
DR   MIM; 612923; phenotype.
DR   MedGen; C2752039.
DR   MedGen; CN043568.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 4.
AC   DI-02599
AR   AHUS4.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   Atypical hemolytic uremic syndrome with B factor anomaly.
DR   MIM; 612924; phenotype.
DR   MedGen; C2752038.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 5.
AC   DI-02600
AR   AHUS5.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   Atypical hemolytic uremic syndrome with C3 anomaly.
DR   MIM; 612925; phenotype.
DR   MedGen; C2752037.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 6.
AC   DI-02601
AR   AHUS6.
DE   An atypical form of hemolytic uremic syndrome. It is a complex genetic
DE   disease characterized by microangiopathic hemolytic anemia,
DE   thrombocytopenia, renal failure and absence of episodes of
DE   enterocolitis and diarrhea. In contrast to typical hemolytic uremic
DE   syndrome, atypical forms have a poorer prognosis, with higher death
DE   rates and frequent progression to end-stage renal disease.
SY   Atypical hemolytic uremic syndrome with thrombomodulin anomaly.
DR   MIM; 612926; phenotype.
DR   MedGen; C2752036.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 7.
AC   DI-03798
AR   AHUS7.
DE   An atypical form of hemolytic uremic syndrome characterized by acute
DE   onset in the first year of life of microangiopathic hemolytic anemia,
DE   thrombocytopenia, and renal failure. After the acute episode, most
DE   patients develop chronic renal insufficiency. Unlike other genetic
DE   forms of aHUS, AHUS7 is not related to abnormal activation of the
DE   complement system.
DR   MIM; 615008; phenotype.
DR   MedGen; C3808619.
DR   MedGen; CN170846.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature.
AC   DI-06713
AR   AHUS8.
DE   An X-linked, atypical form of hemolytic uremic syndrome, characterized
DE   by microangiopathic hemolytic anemia, thrombocytopenia, renal failure
DE   and absence of episodes of enterocolitis and diarrhea. In contrast to
DE   typical hemolytic uremic syndrome, atypical forms have a poorer
DE   prognosis, with higher death rates and frequent progression to end-
DE   stage renal disease. AHUS8 patients have short stature with short
DE   limbs, in addition to acute renal dysfunction with proteinuria,
DE   thrombotic microangiopathy, anemia, thrombocytopenia, increased serum
DE   lactate dehydrogenase, and schistocytes on peripheral blood smear.
DE   More variable features include immunodeficiency with recurrent
DE   infections, developmental delay, and dysmorphic features. The age at
DE   onset of renal symptoms is variable, ranging from infancy to the early
DE   twenties. Female carriers may be mildly affected.
DR   MIM; 301110; phenotype.
DR   MedGen; CN372341.
DR   MeSH; D065766.
KW   KW-1068:Hemolytic uremic syndrome.
//
ID   Hemophagocytic lymphohistiocytosis, familial, 2.
AC   DI-01573
AR   FHL2.
DE   A rare disorder characterized by immune dysregulation with
DE   hypercytokinemia, defective function of natural killer cell, and
DE   massive infiltration of several organs by activated lymphocytes and
DE   macrophages. The clinical features of the disease include fever,
DE   hepatosplenomegaly, cytopenia, and less frequently neurological
DE   abnormalities ranging from irritability and hypotonia to seizures,
DE   cranial nerve deficits and ataxia.
SY   HLH2.
SY   HPLH2.
DR   MIM; 603553; phenotype.
DR   MedGen; C1863727.
DR   MeSH; D051359.
//
ID   Hemophagocytic lymphohistiocytosis, familial, 3.
AC   DI-01574
AR   FHL3.
DE   A rare disorder characterized by immune dysregulation with
DE   hypercytokinemia, defective function of natural killer cell, and
DE   massive infiltration of several organs by activated lymphocytes and
DE   macrophages. The clinical features of the disease include fever,
DE   hepatosplenomegaly, cytopenia, and less frequently neurological
DE   abnormalities ranging from irritability and hypotonia to seizures,
DE   cranial nerve deficits and ataxia.
SY   HLH3.
SY   HPLH3.
DR   MIM; 608898; phenotype.
DR   MedGen; C1837174.
DR   MeSH; D051359.
//
ID   Hemophagocytic lymphohistiocytosis, familial, 4.
AC   DI-01575
AR   FHL4.
DE   A rare disorder characterized by immune dysregulation with
DE   hypercytokinemia, defective function of natural killer cell, and
DE   massive infiltration of several organs by activated lymphocytes and
DE   macrophages. The clinical features of the disease include fever,
DE   hepatosplenomegaly, cytopenia, and less frequently neurological
DE   abnormalities ranging from irritability and hypotonia to seizures,
DE   cranial nerve deficits and ataxia.
SY   HLH4.
SY   HPLH4.
DR   MIM; 603552; phenotype.
DR   MedGen; C1863728.
DR   MeSH; D051359.
//
ID   Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease.
AC   DI-02796
AR   FHL5.
DE   A rare, autosomal recessive disorder characterized by immune
DE   dysregulation with hypercytokinemia, defective function of natural
DE   killer cell, and massive infiltration of several organs by activated
DE   lymphocytes and macrophages. The clinical features of the disease
DE   include fever, hepatosplenomegaly, cytopenia, and less frequently
DE   neurological abnormalities ranging from irritability and hypotonia to
DE   seizures, cranial nerve deficits and ataxia. Some patients may present
DE   in early infancy with severe diarrhea, prior to the onset of typical
DE   FHL features, whereas others present later in childhood and have a
DE   more protracted course without diarrhea. The early-onset diarrhea is
DE   due to enteropathy reminiscent of microvillus inclusion disease.
SY   HLH5.
SY   HPLH5.
DR   MIM; 613101; phenotype.
DR   MedGen; C2751293.
DR   MeSH; D051359.
//
ID   Hemophilia A.
AC   DI-01705
AR   HEMA.
DE   A disorder of blood coagulation characterized by a permanent tendency
DE   to hemorrhage. About 50% of patients have severe hemophilia resulting
DE   in frequent spontaneous bleeding into joints, muscles and internal
DE   organs. Less severe forms are characterized by bleeding after trauma
DE   or surgery.
SY   Classic hemophilia.
SY   Factor 8 deficiency.
SY   Factor VIII deficiency.
DR   MIM; 306700; phenotype.
DR   MedGen; C0015506.
DR   MedGen; C0019069.
DR   MeSH; D006467.
KW   KW-0355:Hemophilia.
//
ID   Hemophilia B.
AC   DI-02248
AR   HEMB.
DE   An X-linked blood coagulation disorder characterized by a permanent
DE   tendency to hemorrhage, due to factor IX deficiency. It is
DE   phenotypically similar to hemophilia A, but patients present with
DE   fewer symptoms. Many patients are asymptomatic until the hemostatic
DE   system is stressed by surgery or trauma.
SY   Christmas disease.
SY   F9 deficiency.
SY   Factor IX deficiency.
SY   Plasma thromboplastin component deficiency.
SY   Recessive X-linked hemophilia B.
DR   MIM; 306900; phenotype.
DR   MedGen; C0008533.
DR   MedGen; CN043453.
DR   MedGen; CN043454.
DR   MeSH; D002836.
KW   KW-0355:Hemophilia.
//
ID   Hemorrhagic destruction of the brain with subependymal calcification and cataracts.
AC   DI-03021
AR   HDBSCC.
DE   A syndrome characterized by congenital cataracts and severe brain
DE   abnormalities apparently resulting from hemorrhagic destruction of the
DE   brain parenchyma, including the cerebral white matter and basal
DE   ganglia. Patients manifest profound developmental delay, and other
DE   neurologic features included seizures, spasticity, and hyperreflexia.
DE   The clinical course is very severe resulting in death in infancy.
DE   Brain imaging shows multifocal intraparenchymal hemorrhage with
DE   associated liquefaction and massive cystic degeneration, and
DE   calcification in the subependymal region and in brain tissue.
DR   MIM; 613730; phenotype.
DR   MedGen; C3151000.
DR   MeSH; D001927.
DR   MeSH; D002114.
//
ID   Hengel-Maroofian-Schols syndrome.
AC   DI-06285
AR   HEMARS.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay apparent from infancy or early childhood. Affected
DE   individuals have delayed walking or inability to walk, impaired
DE   intellectual development with poor or absent speech, lower limb
DE   spasticity, poor overall growth, and dysmorphic facial features. Some
DE   patients develop seizures. Brain imaging shows thinning of the
DE   posterior part of the corpus callosum, delayed myelination, and
DE   cerebral and cerebellar atrophy.
SY   Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities.
DR   MIM; 619641; phenotype.
DR   MedGen; CN305051.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Hennekam lymphangiectasia-lymphedema syndrome 1.
AC   DI-02804
AR   HKLLS1.
DE   A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE   lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE   with severe lymphedema of the limbs, genitalia and face. In addition,
DE   affected individuals have unusual facies and some manifest
DE   intellectual disability. HKLLS1 inheritance is autosomal recessive.
SY   Generalized lymphatic dysplasia.
SY   Hennekam syndrome.
DR   MIM; 235510; phenotype.
DR   MedGen; C0340834.
DR   MeSH; D008201.
DR   MeSH; D008209.
//
ID   Hennekam lymphangiectasia-lymphedema syndrome 2.
AC   DI-04238
AR   HKLLS2.
DE   A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE   lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE   with severe lymphedema of the limbs, genitalia and face. In addition,
DE   affected individuals have unusual facies and some manifest
DE   intellectual disability. HKLLS2 individuals have lymphangiectasia
DE   variably affecting the gut, pericardium, lungs, kidneys, and
DE   genitalia. Other features include camptodactyly and rare syndactyly.
DE   HKLLS2 inheritance is autosomal recessive.
DR   MIM; 616006; phenotype.
DR   MedGen; CN219642.
DR   MeSH; D008201.
DR   MeSH; D008209.
//
ID   Hennekam lymphangiectasia-lymphedema syndrome 3.
AC   DI-05355
AR   HKLLS3.
DE   A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized
DE   lymph-vessels dysplasia characterized by intestinal lymphangiectasia
DE   with severe lymphedema of the limbs, genitalia and face. In addition,
DE   affected individuals have unusual facies and some manifest
DE   intellectual disability. HKLLS3 is characterized by widespread
DE   congenital edema, facial dysmorphism and protein-losing enteropathy of
DE   variable severity. HKLLS3 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618154; phenotype.
DR   MedGen; CN257744.
DR   MeSH; D008201.
DR   MeSH; D008209.
//
ID   Hepatic adenomas familial.
AC   DI-02645
AR   HEPAF.
DE   Rare benign liver tumors of presumable epithelial origin that develop
DE   in an otherwise normal liver. Hepatic adenomas may be single or
DE   multiple. They consist of sheets of well-differentiated hepatocytes
DE   that contain fat and glycogen and can produce bile. Bile ducts or
DE   portal areas are absent. Kupffer cells, if present, are reduced in
DE   number and are non-functional. Conditions associated with adenomas are
DE   insulin-dependent diabetes mellitus and glycogen storage diseases
DE   (types 1 and 3).
SY   Familial liver cell adenomas.
SY   HA.
SY   Hepatocellular adenomas.
DR   MIM; 142330; phenotype.
DR   MedGen; C1840646.
DR   MeSH; D018248.
//
ID   Hepatic lipase deficiency.
AC   DI-01706
AR   HL deficiency.
DE   A disorder characterized by elevated levels of beta-migrating very low
DE   density lipoproteins, and abnormally triglyceride-rich low and high
DE   density lipoproteins.
DR   MIM; 614025; phenotype.
DR   MedGen; C3151466.
DR   MeSH; D008052.
//
ID   Hepatic venoocclusive disease with immunodeficiency.
AC   DI-01707
AR   VODI.
DE   Autosomal recessive primary immunodeficiency associated with hepatic
DE   vascular occlusion and fibrosis. The immunodeficiency is characterized
DE   by severe hypogammaglobulinemia, combined T and B-cell
DE   immunodeficiency, absent lymph node germinal centers, and absent
DE   tissue plasma cells.
DR   MIM; 235550; phenotype.
DR   MedGen; C1856128.
//
ID   Hepatitis, fulminant viral.
AC   DI-05641
AR   FVH.
DE   An autosomal recessive form of fulminant viral hepatitis, a disease
DE   that strikes otherwise healthy individuals during primary infection
DE   with common liver-tropic viruses. FVH is characterized by severe liver
DE   destruction in the absence of a preexisting liver disorder, leading to
DE   encephalopathy within 8 weeks of the onset of the first symptoms.
DR   MIM; 618549; phenotype.
DR   MedGen; CN262217.
DR   MeSH; D017114.
//
ID   Hepatocellular carcinoma.
AC   DI-01708
AR   HCC.
DE   A primary malignant neoplasm of epithelial liver cells. The major risk
DE   factors for HCC are chronic hepatitis B virus (HBV) infection, chronic
DE   hepatitis C virus (HCV) infection, prolonged dietary aflatoxin
DE   exposure, alcoholic cirrhosis, and cirrhosis due to other causes.
SY   Hepatocellular cancer.
SY   Hepatoma.
SY   LCC.
SY   Liver cancer.
SY   Liver cell carcinoma.
DR   MIM; 114550; phenotype.
DR   MedGen; C0206624.
DR   MedGen; C0345904.
DR   MedGen; C2239176.
DR   MedGen; C2676033.
DR   MeSH; D006528.
//
ID   Hepatoerythropoietic porphyria.
AC   DI-00542
AR   HEP.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. HEP is a
DE   cutaneous porphyria that presents in infancy. It is characterized
DE   biochemically by excessive excretion of acetate-substituted porphyrins
DE   and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen
DE   decarboxylase levels are very low in erythrocytes and cultured skin
DE   fibroblasts.
DR   MIM; 176100; phenotype.
DR   MedGen; C0162569.
DR   MeSH; D017121.
//
ID   Hepatorenocardiac degenerative fibrosis.
AC   DI-06436
AR   HRCDF.
DE   An autosomal recessive disorder characterized by progressive
DE   degenerative liver fibrosis, fibrocystic kidney disease, and
DE   hypertrophic cardiomyopathy with atypical fibrotic patterns on
DE   histopathology. Disease onset is variable, ranging from childhood to
DE   adulthood.
DR   MIM; 619902; phenotype.
DR   MedGen; CN312439.
DR   MeSH; D024741.
KW   KW-1186:Ciliopathy.
//
ID   Hereditary angiopathy with nephropathy aneurysms and muscle cramps.
AC   DI-01710
AR   HANAC.
DE   The clinical renal manifestations include hematuria and bilateral
DE   large cysts. Histologic analysis revealed complex basement membrane
DE   defects in kidney and skin. The systemic angiopathy appears to affect
DE   both small vessels and large arteries.
DR   MIM; 611773; phenotype.
DR   MedGen; C2673195.
//
ID   Hereditary coproporphyria.
AC   DI-00545
AR   HCP.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. Hereditary
DE   coproporphyria is an acute hepatic porphyria characterized by skin
DE   photosensitivity, attacks of abdominal pain, neurological
DE   disturbances, and psychiatric symptoms. Most attacks are precipitated
DE   by drugs, alcohol, caloric deprivation, infections, or endocrine
DE   factors. Hereditary coproporphyria is biochemically characterized by
DE   overexcretion of coproporphyrin III in the urine and in the feces.
SY   Coproporphyrinogen oxidase deficiency.
SY   CPO deficiency.
SY   CPOX deficiency.
SY   CPRO deficiency.
DR   MIM; 121300; phenotype.
DR   MedGen; C0162531.
DR   MedGen; C0342859.
DR   MeSH; D046349.
//
ID   Hereditary folate malabsorption.
AC   DI-01712
AR   HFM.
DE   Rare autosomal recessive disorder characterized by impaired intestinal
DE   folate absorption with folate deficiency resulting in anemia,
DE   hypoimmunoglobulinemia with recurrent infections, and recurrent or
DE   chronic diarrhea. In many patients, neurological abnormalities such as
DE   seizures or intellectual disability become apparent during early
DE   childhood, attributed to impaired transport of folates into the
DE   central nervous system. When diagnosed early, the disorder can be
DE   treated by administration of folate. If untreated, it can be fatal
DE   and, if treatment is delayed, the neurological defects can become
DE   permanent.
DR   MIM; 229050; phenotype.
DR   MedGen; C0342705.
//
ID   Hereditary fructose intolerance.
AC   DI-01713
AR   HFI.
DE   Autosomal recessive disease that results in an inability to metabolize
DE   fructose and related sugars. Complete exclusion of fructose results in
DE   dramatic recovery; however, if not treated properly, HFI subjects
DE   suffer episodes of hypoglycemia, general ill condition, and risk of
DE   death the remainder of life.
DR   MIM; 229600; phenotype.
DR   MedGen; C0016751.
//
ID   Hereditary hypophosphatemic rickets with hypercalciuria.
AC   DI-01719
AR   HHRH.
DE   Autosomal recessive form of hypophosphatemia characterized by reduced
DE   renal phosphate reabsorption and rickets. Increased serum levels of
DE   1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.
DR   MIM; 241530; phenotype.
DR   MedGen; C0342645.
//
ID   Hereditary intrinsic factor deficiency.
AC   DI-01720
AR   IFD.
DE   Autosomal recessive disorder characterized by megaloblastic anemia.
SY   Congenital pernicious anemia.
DR   MIM; 261000; phenotype.
DR   MedGen; C1394891.
//
ID   Hereditary leiomyomatosis and renal cell cancer.
AC   DI-02003
AR   HLRCC.
DE   A disorder characterized by predisposition to cutaneous and uterine
DE   leiomyomas, and papillary type 2 renal cancer which occurs in about
DE   20% of patients.
SY   Leiomyoma multiple cutaneous.
SY   Leiomyomatosis and renal cell cancer hereditary.
SY   LRCC.
SY   MCL.
SY   MCUL1.
SY   Multiple cutaneous and uterine leiomyomata.
SY   Multiple cutaneous and uterine leiomyomata 1 with or without renal cell carcinoma.
DR   MIM; 150800; phenotype.
DR   MedGen; C1708350.
DR   MedGen; C1835485.
DR   MeSH; D018231.
//
ID   Hereditary multiple exostoses 1.
AC   DI-01725
AR   EXT1.
DE   EXT is a genetically heterogeneous bone disorder caused by genes
DE   segregating on human chromosomes 8, 11, and 19 and designated EXT1,
DE   EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal
DE   disorder primarily affecting endochondral bone during growth. The
DE   disease is characterized by formation of numerous cartilage-capped,
DE   benign bone tumors (osteocartilaginous exostoses or osteochondromas)
DE   that are often accompanied by skeletal deformities and short stature.
DE   In a small percentage of cases exostoses have exhibited malignant
DE   transformation resulting in an osteosarcoma or chondrosarcoma.
DE   Osteochondromas development can also occur as a sporadic event.
DR   MIM; 133700; phenotype.
DR   MedGen; C0015306.
//
ID   Hereditary multiple exostoses 2.
AC   DI-01726
AR   EXT2.
DE   EXT is a genetically heterogeneous bone disorder caused by genes
DE   segregating on human chromosomes 8, 11, and 19 and designated EXT1,
DE   EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal
DE   disorder primarily affecting endochondral bone during growth. The
DE   disease is characterized by formation of numerous cartilage-capped,
DE   benign bone tumors (osteocartilaginous exostoses or osteochondromas)
DE   that are often accompanied by skeletal deformities and short stature.
DE   In a small percentage of cases exostoses have exhibited malignant
DE   transformation resulting in an osteosarcoma or chondrosarcoma.
DE   Osteochondromas development can also occur as a sporadic event.
DR   MIM; 133701; phenotype.
DR   MedGen; C1851413.
//
ID   Hereditary neuralgic amyotrophy.
AC   DI-01728
AR   HNA.
DE   Autosomal dominant form of recurrent focal neuropathy characterized
DE   clinically by acute, recurrent episodes of brachial plexus neuropathy
DE   with muscle weakness and atrophy preceded by severe pain in the
DE   affected arm. HNA is triggered by environmental factors such as
DE   infection or parturition.
SY   Hereditary brachial plexus neuropathy.
SY   Hereditary neuralgic amyotrophy with predilection for brachial plexus.
SY   NAPB.
SY   Neuritis with brachial predilection.
DR   MIM; 162100; phenotype.
DR   MedGen; C1834304.
//
ID   Hereditary neuropathy with liability to pressure palsies.
AC   DI-00546
AR   HNPP.
DE   A neurologic disorder characterized by transient episodes of decreased
DE   perception or peripheral nerve palsies after slight traction,
DE   compression or minor traumas.
SY   Familial recurrent polyneuropathy.
SY   Tomaculous neuropathy.
DR   MIM; 162500; phenotype.
DR   MedGen; C0393814.
DR   MeSH; D011115.
KW   KW-0622:Neuropathy.
//
ID   Hereditary neutrophilia.
AC   DI-02545
AR   NEUTROPHILIA.
DE   A form of lifelong, persistent neutrophilia, a condition characterized
DE   by an increase in the number of neutrophils in the blood.
DR   MIM; 162830; phenotype.
DR   MedGen; C0543669.
DR   MeSH; D007964.
//
ID   Hereditary non-polyposis colorectal cancer 6.
AC   DI-00555
AR   HNPCC6.
DE   An autosomal dominant disease associated with marked increase in
DE   cancer susceptibility. It is characterized by a familial
DE   predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE   colonic tumors of the gastrointestinal, urological and female
DE   reproductive tracts. HNPCC is reported to be the most common form of
DE   inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE   often divided into two subgroups. Type I is characterized by
DE   hereditary predisposition to colorectal cancer, a young age of onset,
DE   and carcinoma observed in the proximal colon. Type II is characterized
DE   by increased risk for cancers in certain tissues such as the uterus,
DE   ovary, breast, stomach, small intestine, skin, and larynx in addition
DE   to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE   criteria: 3 or more relatives affected by colorectal cancer, one a
DE   first degree relative of the other two; 2 or more generation affected;
DE   1 or more colorectal cancers presenting before 50 years of age;
DE   exclusion of hereditary polyposis syndromes. The term 'suspected
DE   HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE   not or only partially fulfill the Amsterdam criteria, but in whom a
DE   genetic basis for colon cancer is strongly suspected.
DR   MIM; 614331; phenotype.
DR   MedGen; C1860896.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Hereditary non-polyposis colorectal cancer 7.
AC   DI-00556
AR   HNPCC7.
DE   An autosomal dominant disease associated with marked increase in
DE   cancer susceptibility. It is characterized by a familial
DE   predisposition to early-onset colorectal carcinoma (CRC) and extra-
DE   colonic tumors of the gastrointestinal, urological and female
DE   reproductive tracts. HNPCC is reported to be the most common form of
DE   inherited colorectal cancer in the Western world. Clinically, HNPCC is
DE   often divided into two subgroups. Type I is characterized by
DE   hereditary predisposition to colorectal cancer, a young age of onset,
DE   and carcinoma observed in the proximal colon. Type II is characterized
DE   by increased risk for cancers in certain tissues such as the uterus,
DE   ovary, breast, stomach, small intestine, skin, and larynx in addition
DE   to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
DE   criteria: 3 or more relatives affected by colorectal cancer, one a
DE   first degree relative of the other two; 2 or more generation affected;
DE   1 or more colorectal cancers presenting before 50 years of age;
DE   exclusion of hereditary polyposis syndromes. The term 'suspected
DE   HNPCC' or 'incomplete HNPCC' can be used to describe families who do
DE   not or only partially fulfill the Amsterdam criteria, but in whom a
DE   genetic basis for colon cancer is strongly suspected.
DR   MIM; 614385; phenotype.
DR   MedGen; C1858380.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Hereditary pyropoikilocytosis.
AC   DI-01737
AR   HPP.
DE   Autosomal recessive hematologic disorder characterized by hemolytic
DE   anemia, microspherocytosis, poikilocytosis, and an unusual thermal
DE   sensitivity of red cells.
DR   MIM; 266140; phenotype.
DR   MedGen; C0520739.
//
ID   Hereditary susceptibility to Wilms tumor 5.
AC   DI-01738
AR   WT5.
DE   Pediatric malignancy of kidney and one of the most common solid
DE   cancers in childhood.
DR   MIM; 601583; phenotype.
DR   MedGen; C1832099.
//
ID   Hermansky-Pudlak syndrome 1.
AC   DI-00557
AR   HPS1.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 203300; phenotype.
DR   MedGen; C0079504.
DR   MedGen; C2931875.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 10.
AC   DI-04775
AR   HPS10.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS. HPS10 patients manifest albinism, neutropenia,
DE   immunodeficiency, neurodevelopmental delay, generalized seizures, and
DE   impaired hearing.
DR   MIM; 617050; phenotype.
DR   MedGen; CN230106.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 11.
AC   DI-06004
AR   HPS11.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
DR   MIM; 619172; phenotype.
DR   MedGen; CN295243.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 2.
AC   DI-00558
AR   HPS2.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS. HPS2 differs from the other forms of HPS in that it includes
DE   immunodeficiency in its phenotype and patients with HPS2 have an
DE   increased susceptibility to infections.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 608233; phenotype.
DR   MedGen; C1842362.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 3.
AC   DI-00559
AR   HPS3.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614072; phenotype.
DR   MedGen; CN068829.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 4.
AC   DI-00560
AR   HPS4.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614073; phenotype.
DR   MedGen; C3484357.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 5.
AC   DI-00561
AR   HPS5.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614074; phenotype.
DR   MedGen; CN068618.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 6.
AC   DI-00562
AR   HPS6.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614075; phenotype.
DR   MedGen; CN068617.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 7.
AC   DI-00563
AR   HPS7.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614076; phenotype.
DR   MedGen; C3279756.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 8.
AC   DI-00564
AR   HPS8.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614077; phenotype.
DR   MedGen; CN068492.
DR   MedGen; CN201510.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Hermansky-Pudlak syndrome 9.
AC   DI-03187
AR   HPS9.
DE   A form of Hermansky-Pudlak syndrome, a genetically heterogeneous
DE   autosomal recessive disorder characterized by oculocutaneous albinism,
DE   bleeding due to platelet storage pool deficiency, and lysosomal
DE   storage defects. This syndrome results from defects of diverse
DE   cytoplasmic organelles including melanosomes, platelet dense granules
DE   and lysosomes. Ceroid storage in the lungs is associated with
DE   pulmonary fibrosis, a common cause of premature death in individuals
DE   with HPS.
SY   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.
SY   Delta storage pool disease.
DR   MIM; 614171; phenotype.
DR   MedGen; C3280026.
DR   MeSH; D022861.
KW   KW-0363:Hermansky-Pudlak syndrome.
//
ID   Heterotaxy, visceral, 1, X-linked.
AC   DI-02463
AR   HTX1.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations.
SY   Dextrocardia with other cardiac malformations.
SY   Laterality X-linked.
SY   Situs inversus with complex cardiac defects and splenic defects X-linked.
DR   MIM; 306955; phenotype.
DR   MedGen; C1844020.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 10, autosomal, with male infertility.
AC   DI-06266
AR   HTX10.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX10 is an autosomal recessive form associated with
DE   male infertility.
DR   MIM; 619607; phenotype.
DR   MedGen; CN301171.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 11, autosomal, with male infertility.
AC   DI-06267
AR   HTX11.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX11 is an autosomal recessive form associated with
DE   male infertility due to reduced flagellar motility.
DR   MIM; 619608; phenotype.
DR   MedGen; CN301172.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 12, autosomal.
AC   DI-06243
AR   HTX12.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. Early death may occur. HTX12 inheritance is autosomal
DE   recessive.
DR   MIM; 619702; phenotype.
DR   MedGen; CN306198.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 2, autosomal.
AC   DI-02413
AR   HTX2.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations.
DR   MIM; 605376; phenotype.
DR   MedGen; C1854334.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 4, autosomal.
AC   DI-01884
AR   HTX4.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX4 clinical features include dextrocardia, right
DE   aortic arch and a right-sided spleen, anomalies of the inferior and
DE   the superior vena cava, atrial ventricular canal defect with dextro-
DE   transposed great arteries, pulmonary stenosis, polysplenia and midline
DE   liver.
SY   Left-right axis malformations.
DR   MIM; 613751; phenotype.
DR   MedGen; C3151057.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 5, autosomal.
AC   DI-01030
AR   HTX5.
DE   An autosomal dominant form of visceral heterotaxy, a complex disorder
DE   due to disruption of the normal left-right asymmetry of the
DE   thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results
DE   in randomization of the placement of visceral organs, including the
DE   heart, lungs, liver, spleen, and stomach. The organs are oriented
DE   randomly with respect to the left-right axis and with respect to one
DE   another. It can be associated with a variety of congenital defects
DE   including cardiac malformations. HTX5 clinical features include situs
DE   inversus viscerum or situs ambiguus, congenital heart defect,
DE   transposition of the great vessels ventricular septal defect, atrial
DE   septal defect, truncus communis, and dextrocardia.
SY   Situs inversus viscerum.
SY   SIV.
DR   MIM; 270100; phenotype.
DR   MedGen; C0037221.
DR   MedGen; C3495537.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 6, autosomal.
AC   DI-03502
AR   HTX6.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX6 clinical features are situs inversus totalis and
DE   severe complex cardiac malformations including unbalanced
DE   atrioventricular canal defects, transposition of the great arteries
DE   with severe pulmonary stenosis, right aortic arch, abnormal systemic
DE   venous return and total anomalous pulmonary venous drainage.
DR   MIM; 614779; phenotype.
DR   MedGen; C3553676.
DR   MedGen; CN142516.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 7, autosomal.
AC   DI-04636
AR   HTX7.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX7 inheritance is autosomal recessive.
DR   MIM; 616749; phenotype.
DR   MedGen; CN235018.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 8, autosomal.
AC   DI-04866
AR   HTX8.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX8 inheritance is autosomal recessive.
DR   MIM; 617205; phenotype.
DR   MedGen; CN239116.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Heterotaxy, visceral, 9, autosomal, with male infertility.
AC   DI-05875
AR   HTX9.
DE   A form of visceral heterotaxy, a complex disorder due to disruption of
DE   the normal left-right asymmetry of the thoracoabdominal organs.
DE   Visceral heterotaxy or situs ambiguus results in randomization of the
DE   placement of visceral organs, including the heart, lungs, liver,
DE   spleen, and stomach. The organs are oriented randomly with respect to
DE   the left-right axis and with respect to one another. It can be
DE   associated with a variety of congenital defects including cardiac
DE   malformations. HTX9 is an autosomal recessive form associated with
DE   male infertility, mainly due to defective sperm motility.
DR   MIM; 618948; phenotype.
DR   MedGen; CN283286.
DR   MeSH; D059446.
KW   KW-1056:Heterotaxy.
//
ID   Hexokinase deficiency.
AC   DI-01739
AR   HK deficiency.
DE   Rare autosomal recessive disease with nonspherocytic hemolytic anemia
DE   as the predominant clinical feature.
DR   MIM; 235700; phenotype.
DR   MedGen; C0472792.
DR   MedGen; C3150343.
//
ID   Heyn-Sproul-Jackson syndrome.
AC   DI-05727
AR   HESJAS.
DE   An autosomal dominant form of microcephalic dwarfism. Affected
DE   individuals have intrauterine growth retardation, postnatal growth
DE   restrictions, proportionate short stature, microcephaly, severe
DE   developmental delay and impaired intellectual development. More
DE   variable features include sparse hair, short broad metacarpals and
DE   phalanges, and mild recurrent infections.
SY   Microcephaly, short stature, and impaired intellectual development.
DR   MIM; 618724; phenotype.
DR   MedGen; CN263103.
DR   MeSH; D004392.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Hiatt-Neu-Cooper neurodevelopmental syndrome.
AC   DI-06098
AR   HINCONS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, delayed walking or inability to walk,
DE   impaired intellectual development, poor or absent speech, axial
DE   hypotonia, and facial dysmorphism. Additional variable features may
DE   include seizures, autistic or behavioral abnormalities, and brain
DE   abnormalities.
DR   MIM; 619311; phenotype.
DR   MedGen; CN296588.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   High bone mass trait.
AC   DI-01741
AR   HBM.
DE   Rare phenotype characterized by exceptionally dense bones. HBM
DE   individuals show otherwise a completely normal skeletal structure and
DE   no other unusual clinical findings.
DR   MIM; 601884; phenotype.
DR   MedGen; C1866079.
DR   MedGen; C1866080.
//
ID   High molecular weight kininogen deficiency.
AC   DI-01744
AR   HMWK deficiency.
DE   Autosomal recessive coagulation defect. Patients with HWMK deficiency
DE   do not have a hemorrhagic tendency, but they exhibit abnormal surface-
DE   mediated activation of fibrinolysis.
DR   MIM; 228960; phenotype.
DR   MedGen; C0272340.
DR   MedGen; C1856719.
DR   MedGen; C2673570.
DR   MedGen; C2673571.
DR   MedGen; C2673572.
//
ID   Hijazi-Reis syndrome.
AC   DI-06575
AR   HIJRS.
DE   A neurodevelopmental disorder characterized by hypotonia, abnormal
DE   gait, developmental delay, intellectual disability especially
DE   affecting expressive language, and autistic behavior. Additional
DE   features include facial dysmorphism,ocular anomalies, and
DE   gastrointestinal issues. Rare patients have seizures. Disease severity
DE   is variable. Males tend to be more severely affected than females.
SY   NEDGFAX.
SY   Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked.
DR   MIM; 301094; phenotype.
DR   MedGen; CN323006.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Hirschsprung disease 1.
AC   DI-01746
AR   HSCR1.
DE   A disorder of neural crest development characterized by absence of
DE   enteric ganglia along a variable length of the intestine. It is the
DE   most common cause of congenital intestinal obstruction. Early symptoms
DE   range from complete acute neonatal obstruction, characterized by
DE   vomiting, abdominal distention and failure to pass stool, to chronic
DE   constipation in the older child.
SY   Aganglionic megacolon.
SY   Colonic aganglionosis.
SY   MGC.
DR   MIM; 142623; phenotype.
DR   MedGen; C0019569.
DR   MedGen; C2931876.
DR   MedGen; CN030431.
DR   MeSH; D006627.
KW   KW-0367:Hirschsprung disease.
//
ID   Hirschsprung disease 2.
AC   DI-01747
AR   HSCR2.
DE   A disorder of neural crest development characterized by absence of
DE   enteric ganglia along a variable length of the intestine. It is the
DE   most common cause of congenital intestinal obstruction. Early symptoms
DE   range from complete acute neonatal obstruction, characterized by
DE   vomiting, abdominal distention and failure to pass stool, to chronic
DE   constipation in the older child.
SY   Aganglionic megacolon.
SY   MGC.
DR   MIM; 600155; phenotype.
DR   MedGen; C1838564.
DR   MeSH; D006627.
KW   KW-0367:Hirschsprung disease.
//
ID   Hirschsprung disease 3.
AC   DI-01745
AR   HSCR3.
DE   A disorder of neural crest development characterized by absence of
DE   enteric ganglia along a variable length of the intestine. It is the
DE   most common cause of congenital intestinal obstruction. Early symptoms
DE   range from complete acute neonatal obstruction, characterized by
DE   vomiting, abdominal distention and failure to pass stool, to chronic
DE   constipation in the older child.
DR   MIM; 613711; phenotype.
DR   MedGen; C2931739.
DR   MedGen; C3150974.
DR   MeSH; D006627.
KW   KW-0367:Hirschsprung disease.
//
ID   Hirschsprung disease 4.
AC   DI-02982
AR   HSCR4.
DE   A disorder of neural crest development characterized by absence of
DE   enteric ganglia along a variable length of the intestine. It is the
DE   most common cause of congenital intestinal obstruction. Early symptoms
DE   range from complete acute neonatal obstruction, characterized by
DE   vomiting, abdominal distention and failure to pass stool, to chronic
DE   constipation in the older child.
DR   MIM; 613712; phenotype.
DR   MedGen; C3150975.
DR   MeSH; D006627.
KW   KW-0367:Hirschsprung disease.
//
ID   Hirschsprung disease, cardiac defects, and autonomic dysfunction.
AC   DI-01748
AR   HCAD.
DE   A disorder characterized by skip-lesions Hirschsprung disease,
DE   craniofacial abnormalities and other dysmorphic features, cardiac
DE   defects including ductus arteriosus, small subaortic ventricular
DE   septal defect, small atrial septal defect, and autonomic dysfunction.
DR   MIM; 613870; phenotype.
DR   MedGen; C3151237.
DR   MeSH; D006627.
KW   KW-0367:Hirschsprung disease.
//
ID   Histidinemia.
AC   DI-01750
AR   HISTID.
DE   Autosomal recessive disease characterized by increased histidine and
DE   histamine as well as decreased urocanic acid in body fluids.
DR   MIM; 235800; phenotype.
DR   MedGen; C0220992.
//
ID   Histiocytosis-lymphadenopathy plus syndrome.
AC   DI-01692
AR   HLAS.
DE   A syndrome characterized by the combination of features from 2 or more
DE   of four histiocytic disorders, originally thought to be distinct:
DE   Faisalabad histiocytosis (FHC), sinus histiocytosis with massive
DE   lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with
DE   insulin-dependent diabetes mellitus syndrome (PHID). FHC features
DE   include joint deformities, sensorineural hearing loss, and subsequent
DE   development of generalized lymphadenopathy and swellings in the
DE   eyelids that contain histiocytes. SHML causes lymph node enlargement
DE   in children frequently accompanied by fever, leukocytosis, elevated
DE   erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia.
DE   H syndrome is characterized by cutaneous hyperpigmentation and
DE   hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism;
DE   hearing loss is found in about half of patients. PHID is characterized
DE   by predominantly antibody-negative insulin-dependent diabetes mellitus
DE   associated with pigmented hypertrichosis and variable occurrence of
DE   other features of H syndrome.
SY   Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss.
SY   Faisalabad histiocytosis.
SY   Familial Rosai-Dorfman disease.
SY   Histiocytosis and lymphadenopathy with or without cutaneous cardiac and/or endocrine features joint contractures and/or deafness.
SY   Histiocytosis with joint contractures and sensorineural deafness.
SY   HJCD.
SY   H syndrome.
SY   PHID.
SY   Pigmented hypertrichosis with insulin-dependent diabetes mellitus.
SY   SHML.
SY   Sinus histiocytosis and massive lymphadenopathy.
DR   MIM; 602782; phenotype.
DR   MedGen; C1864445.
DR   MeSH; D015618.
//
ID   Holocarboxylase synthetase deficiency.
AC   DI-00565
AR   HLCS deficiency.
DE   A neonatal form of multiple carboxylase deficiency, an autosomal
DE   recessive disorder of biotin metabolism, characterized by
DE   ketoacidosis, hyperammonemia, excretion of abnormal organic acid
DE   metabolites, and dermatitis. In holocarboxylase synthetase deficiency,
DE   clinical and biochemical symptoms improve dramatically with
DE   administration of biotin.
SY   Biotin-responsive MCD.
SY   Biotin-responsive multiple carboxylase deficiency.
SY   Early-onset MCD.
SY   Early-onset multiple carboxylase deficiency.
SY   MCD neonatal form.
DR   MIM; 253270; phenotype.
DR   MedGen; C0268581.
DR   MeSH; D028922.
//
ID   Holoprosencephaly 11.
AC   DI-03230
AR   HPE11.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability.
SY   Holoprosencephaly-11.
DR   MIM; 614226; phenotype.
DR   MedGen; C3280215.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 12 with or without pancreatic agenesis.
AC   DI-05615
AR   HPE12.
DE   An autosomal dominant form of holoprosencephaly, a structural anomaly
DE   of the brain in which the developing forebrain fails to correctly
DE   separate into right and left hemispheres. Holoprosencephaly is
DE   genetically heterogeneous and associated with several distinct facies
DE   and phenotypic variability. HPE12 clinical features include abnormal
DE   forebrain development, dysmorphic features, global developmental
DE   delay, learning difficulties, and congenital absence of the pancreas
DE   in most patients, resulting in early-onset insulin-dependent diabetes
DE   mellitus. Other features may include hearing loss and absence of the
DE   gallbladder.
DR   MIM; 618500; phenotype.
DR   MedGen; CN261026.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 13, X-linked.
AC   DI-05801
AR   HPE13.
DE   An X-linked form of holoprosencephaly, a structural anomaly of the
DE   brain in which the developing forebrain fails to correctly separate
DE   into right and left hemispheres. Holoprosencephaly is genetically
DE   heterogeneous and associated with several distinct facies and
DE   phenotypic variability. HPE13 features range from full alobar
DE   holoprosencephaly with cyclopia to semilobar holoprosencephaly or
DE   septooptic dysplasia. Dysmorphic features include microcephaly,
DE   hypotelorism, low-set ears, micrognathia, and cleft lip/palate.
DE   Patients with a more severe phenotype may die in the newborn period,
DE   whereas those with a less severe phenotype show global developmental
DE   delay.
DR   MIM; 301043; phenotype.
DR   MedGen; CN272930.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 14.
AC   DI-06434
AR   HPE14.
DE   An autosomal recessive form of holoprosencephaly, a structural anomaly
DE   of the brain in which the developing forebrain fails to correctly
DE   separate into right and left hemispheres. Holoprosencephaly is
DE   genetically heterogeneous and associated with several distinct facies
DE   and phenotypic variability. In its most severe form (alobar
DE   holoprosencephaly), the forebrain consists of a single ventricle, and
DE   midbrain structures may be malformed as well. In the most extreme
DE   cases, anophthalmia or cyclopia is evident along with a congenital
DE   absence of the mature nose. In milder forms (semilobar or lobar
DE   holoprosencephaly), rudimentary midline structures are present. The
DE   less severe form features facial dysmorphism characterized by ocular
DE   hypertelorism, defects of the upper lip and/or nose, and absence of
DE   the olfactory nerves or corpus callosum.
DR   MIM; 619895; phenotype.
DR   MedGen; CN312436.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 2.
AC   DI-00566
AR   HPE2.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability.
SY   Holoprosencephaly-2.
DR   MIM; 157170; phenotype.
DR   MedGen; C1834877.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 3.
AC   DI-00567
AR   HPE3.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability. The majority of
DE   holoprosencephaly type 3 cases are apparently sporadic, although clear
DE   examples of autosomal dominant inheritance have been described.
SY   Holoprosencephaly-3.
DR   MIM; 142945; phenotype.
DR   MedGen; C1840529.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 4.
AC   DI-00568
AR   HPE4.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability.
SY   Holoprosencephaly-4.
DR   MIM; 142946; phenotype.
DR   MedGen; C1840528.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 5.
AC   DI-00569
AR   HPE5.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability.
SY   Holoprosencephaly-5.
DR   MIM; 609637; phenotype.
DR   MedGen; C1864827.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 7.
AC   DI-00570
AR   HPE7.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability.
SY   Holoprosencephaly-7.
DR   MIM; 610828; phenotype.
DR   MedGen; C1835820.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holoprosencephaly 9.
AC   DI-00571
AR   HPE9.
DE   A structural anomaly of the brain, in which the developing forebrain
DE   fails to correctly separate into right and left hemispheres.
DE   Holoprosencephaly is genetically heterogeneous and associated with
DE   several distinct facies and phenotypic variability. Holoprosencephaly
DE   type 9 is characterized by defective anterior pituitary formation and
DE   pan-hypopituitarism, with or without overt forebrain cleavage
DE   abnormalities, and holoprosencephaly-like midfacial hypoplasia.
SY   Holoprosencephaly-9.
SY   Pituitary anomalies with holoprosencephaly-like features.
DR   MIM; 610829; phenotype.
DR   MedGen; C1835819.
DR   MeSH; D016142.
KW   KW-0370:Holoprosencephaly.
//
ID   Holt-Oram syndrome.
AC   DI-01752
AR   HOS.
DE   Developmental disorder affecting the heart and upper limbs. It is
DE   characterized by thumb anomaly and atrial septal defects.
DR   MIM; 142900; phenotype.
DR   MedGen; C0265264.
//
ID   Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity.
AC   DI-01972
AR   MTHFRD.
DE   An autosomal recessive inborn error of folate metabolism. Clinical
DE   severity is variable, ranging from severe neurologic features to
DE   absence of symptoms. Clinical features include homocysteinuria,
DE   homocysteinemia, developmental delay, severe intellectual disability,
DE   perinatal death, psychiatric disturbances, and later-onset
DE   neurodegenerative disorders.
SY   Homocystinuria due to MTHFR deficiency.
SY   Methylenetetrahydrofolate reductase deficiency.
SY   MTHFR deficiency.
DR   MIM; 236250; phenotype.
DR   MedGen; C1856058.
DR   MedGen; C1856059.
DR   MedGen; CN068661.
DR   MeSH; D006712.
//
ID   Homocystinuria-megaloblastic anemia, cblE complementation type.
AC   DI-01970
AR   HMAE.
DE   An autosomal recessive inborn error of metabolism resulting from
DE   defects in the cobalamin-dependent pathway that converts homocysteine
DE   to methionine. It causes delayed psychomotor development,
DE   megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells
DE   from patients with HMAE fail to incorporate methyltetrahydrofolate
DE   into methionine in whole cells, but cell extracts show normal
DE   methionine synthase activity in the presence of a reducing agent.
SY   Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type.
SY   Methylcobalamin deficiency cblE type.
SY   Vitamin B12-responsive homocystinuria cblE type.
DR   MIM; 236270; phenotype.
DR   MedGen; C1856057.
DR   MeSH; D008661.
//
ID   Homocystinuria-megaloblastic anemia, cblG complementation type.
AC   DI-01971
AR   HMAG.
DE   An autosomal recessive inborn error of metabolism resulting from
DE   defects in the cobalamin-dependent pathway that converts homocysteine
DE   to methionine. It causes delayed psychomotor development,
DE   megaloblastic anemia, homocystinuria, and hypomethioninemia.
SY   Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type.
SY   Methionine synthase deficiency.
SY   Methylcobalamin deficiency cblG type.
DR   MIM; 250940; phenotype.
DR   MedGen; C1855128.
DR   MeSH; D008661.
//
ID   Houge-Janssens syndrome 1.
AC   DI-04419
AR   HJS1.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, hypotonia, variably impaired intellectual development, poor
DE   speech, and dysmorphic facial features. Additional more variable
DE   features may include macrocephaly and seizures.
SY   Intellectual developmental disorder, autosomal dominant 35.
SY   MRD35.
DR   MIM; 616355; phenotype.
DR   MedGen; CN230312.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Houge-Janssens syndrome 2.
AC   DI-04420
AR   HJS2.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, hypotonia, variably impaired intellectual development, poor
DE   speech, and dysmorphic facial features. Some patients may develop
DE   seizures.
SY   Intellectual developmental disorder, autosomal dominant 36.
SY   MRD36.
DR   MIM; 616362; phenotype.
DR   MedGen; CN230319.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Houge-Janssens syndrome 3.
AC   DI-05507
AR   HJS3.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay with onset in infancy and additional
DE   variable features including hypotonia, epilepsy, brain abnormalities
DE   such as ventriculomegaly and a small corpus callosum, and autism
DE   spectrum disorder.
SY   NEDLBA.
SY   Neurodevelopmental disorder and language delay with or without structural brain abnormalities.
DR   MIM; 618354; phenotype.
DR   MedGen; CN258245.
DR   MeSH; D000015.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Hoyeraal-Hreidarsson syndrome.
AC   DI-00572
AR   HHS.
DE   A clinically severe variant of dyskeratosis congenita that is
DE   characterized by multisystem involvement, early onset in utero, and
DE   often results in death in childhood. Affected individuals show
DE   intrauterine growth retardation, microcephaly, cerebellar hypoplasia,
DE   delayed development, and bone marrow failure resulting in
DE   immunodeficiency.
SY   Cerebellar hypoplasia with pancytopenia.
SY   Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia.
DR   MIM; 305000; phenotype.
DR   MedGen; C1846142.
DR   MeSH; D005317.
DR   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
ID   HSD10 mitochondrial disease.
AC   DI-00001
AR   HSD10MD.
DE   An X-linked multisystemic disorder with highly variable severity. Age
DE   at onset ranges from the neonatal period to early childhood. Features
DE   include progressive neurodegeneration, psychomotor retardation, loss
DE   of mental and motor skills, seizures, cardiomyopathy, and visual and
DE   hearing impairment. Some patients manifest lactic acidosis and
DE   metabolic acidosis.
SY   17-beta-hydroxysteroid dehydrogenase X deficiency.
SY   2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase II deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase type 2 deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase type-2 deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase type II deficiency.
SY   CAMR.
SY   HSD17B10 deficiency.
SY   MHBD deficiency.
SY   MRXS10.
DR   MIM; 300438; phenotype.
DR   MedGen; C1845517.
DR   MeSH; D020739.
KW   KW-0523:Neurodegeneration.
//
ID   Humerofemoral hypoplasia with radiotibial ray deficiency.
AC   DI-05281
AR   HHRRD.
DE   A severe disease characterized by reduction of all four limbs as well
DE   as hypoplasia of the upper limb girdle and pelvis. Rudimentary
DE   finger- or toe-like appendages may be present. HHRRD transmission
DE   pattern is consistent with autosomal recessive inheritance.
SY   HFHRTRD.
DR   MIM; 618022; phenotype.
DR   MedGen; CN248526.
DR   MeSH; D004480.
//
ID   Huntington disease.
AC   DI-01754
AR   HD.
DE   A neurodegenerative disorder characterized by involuntary movements
DE   (chorea), general motor impairment, psychiatric disorders and
DE   dementia. Onset of the disease occurs usually in the third or fourth
DE   decade of life. Onset and clinical course depend on the degree of
DE   poly-Gln repeat expansion, longer expansions resulting in earlier
DE   onset and more severe clinical manifestations. Neuropathology of
DE   Huntington disease displays a distinctive pattern with loss of
DE   neurons, especially in the caudate and putamen.
DR   MIM; 143100; phenotype.
DR   MedGen; C0020179.
DR   MeSH; D006816.
KW   KW-0523:Neurodegeneration.
//
ID   Huntington disease-like 1.
AC   DI-01755
AR   HDL1.
DE   Autosomal dominant, early-onset neurodegenerative disorder with
DE   prominent psychiatric features.
DR   MIM; 603218; phenotype.
DR   MedGen; C1864112.
//
ID   Huntington disease-like 2.
AC   DI-01756
AR   HDL2.
DE   Huntington disease (HD) is a neurodegenerative disorder resulting
DE   primarily from the loss of medium spiny projection neurons in the
DE   striatum, especially in the caudate nucleus, and, to a lesser extent,
DE   atrophy of mesencephalic and cortical structures. The typical clinical
DE   picture of HD combines familial adult onset chorea and subcortical
DE   dementia that usually begin during the fourth decade of life.
DR   MIM; 606438; phenotype.
DR   MedGen; C1847987.
//
ID   Huppke-Brendel syndrome.
AC   DI-03388
AR   HPBDS.
DE   An autosomal recessive disorder characterized by congenital cataracts,
DE   severe psychomotor retardation, and hearing loss associated with
DE   decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and
DE   cerebellar atrophy and hypomyelination.
SY   CCHLND.
SY   Congenital cataracts, hearing loss, and neurodegeneration.
DR   MIM; 614482; phenotype.
DR   MedGen; C3280965.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
KW   KW-0898:Cataract.
//
ID   Huriez syndrome.
AC   DI-05520
AR   HRZ.
DE   An autosomal dominant syndrome characterized by atrophic fibrosis of
DE   the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma.
DE   Malignant degeneration of affected skin resulting in aggressive
DE   squamous cell carcinoma and early metastasis formation is a
DE   distinctive feature of the syndrome.
SY   Keratoderma with scleroatrophy of the extremities.
SY   Scleroatrophic and keratotic dermatosis of limbs.
SY   Sclerotylosis.
DR   MIM; 181600; phenotype.
DR   MedGen; C0406767.
DR   MeSH; D007642.
DR   MeSH; D012594.
DR   MeSH; D012878.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Hurthle cell thyroid carcinoma.
AC   DI-02876
AR   HCTC.
DE   A rare type of thyroid cancer accounting for only about 3-10% of all
DE   differentiated thyroid cancers. These neoplasms are considered a
DE   variant of follicular carcinoma of the thyroid and are referred to as
DE   follicular carcinoma, oxyphilic type.
SY   Hurthle cell carcinoma.
SY   Hurthle cell thyroid neoplasia.
DR   MIM; 607464; phenotype.
DR   MedGen; C0749424.
DR   MeSH; D013964.
//
ID   Hutchinson-Gilford progeria syndrome.
AC   DI-01757
AR   HGPS.
DE   Rare genetic disorder characterized by features reminiscent of marked
DE   premature aging.
DR   MIM; 176670; phenotype.
DR   MedGen; C0033300.
DR   MedGen; C2750285.
DR   MedGen; CN070028.
//
ID   Hyaline fibromatosis syndrome.
AC   DI-01850
AR   HFS.
DE   An autosomal recessive syndrome characterized by abnormal growth of
DE   hyalinized fibrous tissue usually affecting subcutaneous regions on
DE   the scalp, ears, neck, face, hands, and feet. The lesions appear as
DE   pearly papules or fleshy nodules. Additional features include gingival
DE   hypertrophy, progressive joint contractures resulting in severe
DE   limitation of mobility, osteopenia, and osteoporosis. Disease severity
DE   is variable. Some individuals manifest symptoms in infancy and have
DE   additional visceral or systemic involvement. Hyaline deposits in
DE   multiple organs, recurrent infections and intractable diarrhea often
DE   lead to early death. Surviving children may suffer from severely
DE   reduced mobility due to joint contractures. Other patients have later
DE   onset of a milder disorder affecting only the face and digits.
SY   Infantile systemic hyalinosis.
SY   ISH.
SY   JHF.
SY   Juvenile hyaline fibromatosis.
SY   Systemic hyalinosis.
DR   MIM; 228600; phenotype.
DR   MedGen; C0406578.
DR   MedGen; C2745948.
DR   MeSH; D057770.
//
ID   Hydatidiform mole, recurrent, 1.
AC   DI-01758
AR   HYDM1.
DE   A disorder characterized by excessive trophoblast development that
DE   produces a growing mass of tissue inside the uterus at the beginning
DE   of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE   cystic degeneration of the chorionic villi.
SY   CHM.
SY   Complete hydatidiform mole.
SY   Gestational trophoblastic disease.
SY   Hydatidiform mole.
SY   HYDM.
DR   MIM; 231090; phenotype.
DR   MedGen; C0020217.
DR   MedGen; C2931618.
DR   MedGen; C3463897.
DR   MeSH; D006828.
//
ID   Hydatidiform mole, recurrent, 2.
AC   DI-03290
AR   HYDM2.
DE   A disorder characterized by excessive trophoblast development that
DE   produces a growing mass of tissue inside the uterus at the beginning
DE   of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE   cystic degeneration of the chorionic villi.
SY   Hydatidiform mole complete.
DR   MIM; 614293; phenotype.
DR   MedGen; C0678213.
DR   MeSH; D006828.
//
ID   Hydatidiform mole, recurrent, 3.
AC   DI-05567
AR   HYDM3.
DE   A disorder characterized by excessive trophoblast development that
DE   produces a growing mass of tissue inside the uterus at the beginning
DE   of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE   cystic degeneration of the chorionic villi.
DR   MIM; 618431; phenotype.
DR   MedGen; CN258388.
DR   MeSH; D006828.
//
ID   Hydatidiform mole, recurrent, 4.
AC   DI-05568
AR   HYDM4.
DE   A disorder characterized by excessive trophoblast development that
DE   produces a growing mass of tissue inside the uterus at the beginning
DE   of a pregnancy. It leads to abnormal pregnancies with no embryo, and
DE   cystic degeneration of the chorionic villi.
DR   MIM; 618432; phenotype.
DR   MedGen; CN258389.
DR   MeSH; D006828.
//
ID   Hydrocephalus, congenital, 1.
AC   DI-03639
AR   HYC1.
DE   A form of congenital hydrocephalus, a disease characterized by onset
DE   in utero of enlarged ventricles due to accumulation of ventricular
DE   cerebrospinal fluid. Affected individuals may have neurologic
DE   impairment. HYC1 inheritance is autosomal recessive.
SY   Hydrocephalus, non-syndromic, autosomal recessive 1.
SY   Hydrocephaly.
SY   Ventriculomegaly.
DR   MIM; 236600; phenotype.
DR   MedGen; C0020255.
DR   MeSH; D006849.
//
ID   Hydrocephalus, congenital, 2, with or without brain or eye anomalies.
AC   DI-03725
AR   HYC2.
DE   A form of congenital hydrocephalus, a disease characterized by onset
DE   in utero of enlarged ventricles due to accumulation of ventricular
DE   cerebrospinal fluid. HYC2 affected individuals have variable
DE   neurologic impairment. Some individuals have other brain
DE   abnormalities, including lissencephaly, thinning of the corpus
DE   callosum, and neuronal heterotopia. Most patients have delayed motor
DE   development and some have delayed intellectual development and/or
DE   seizures. Additional congenital features, including cardiac septal
DE   defects, iris coloboma, and non-specific dysmorphic features, may be
DE   observed. HYC2 inheritance is autosomal recessive.
SY   Hydrocephalus, non-syndromic, autosomal recessive 2.
DR   MIM; 615219; phenotype.
DR   MedGen; C3554691.
DR   MeSH; D006849.
//
ID   Hydrocephalus, congenital, 3, with brain anomalies.
AC   DI-05285
AR   HYC3.
DE   A form of congenital hydrocephalus, a disease characterized by onset
DE   in utero of enlarged ventricles due to accumulation of ventricular
DE   cerebrospinal fluid. HYC3 features include enlarged ventricles,
DE   hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker
DE   malformation. Most patients die in utero or shortly after birth. HYC3
DE   inheritance is autosomal recessive.
SY   Hydrocephalus, non-syndromic, autosomal recessive 3.
DR   MIM; 617967; phenotype.
DR   MedGen; CN252328.
DR   MeSH; D006849.
//
ID   Hydrocephalus, congenital, 4.
AC   DI-05706
AR   HYC4.
DE   An autosomal dominant form of congenital hydrocephalus, a disease
DE   characterized by in utero onset of enlarged ventricles due to
DE   accumulation of ventricular cerebrospinal fluid. HYC4 occurs in the
DE   absence of obstruction to cerebrospinal fluid flow between the
DE   ventricles (communicating hydrocephalus). Affected individuals have
DE   neurodevelopmental delay and epilepsy.
SY   HYDCC1.
SY   Hydrocephalus, congenital communicating, 1.
DR   MIM; 618667; phenotype.
DR   MedGen; CN262876.
DR   MeSH; D006849.
//
ID   Hydrocephalus, congenital, 5.
AC   DI-06606
AR   HYC5.
DE   A form of congenital hydrocephalus, a disease characterized by in
DE   utero onset of enlarged ventricles due to accumulation of ventricular
DE   cerebrospinal fluid. HYC5 is an autosomal dominant form with
DE   incomplete penetrance and variable expressivity, associated with
DE   aqueductal stenosis apparent from birth. Some patients may have
DE   neurodevelopmental delay, seizures, or structural brain abnormalities.
DR   MIM; 620241; phenotype.
DR   MedGen; CN323379.
DR   MeSH; D006849.
//
ID   Hydrocephalus, congenital, X-linked.
AC   DI-01759
AR   HYCX.
DE   An X-linked recessive form of congenital hydrocephalus, a disease
DE   characterized by in utero onset of enlarged ventricles due to
DE   accumulation of ventricular cerebrospinal fluid. HYCX is the most
DE   common inherited form and occurs in approximately 1/30000 male births.
DE   The primary diagnostic criteria of intellectual disability and
DE   enlarged cerebral ventricles are often accompanied by spastic
DE   paraparesis and adducted thumbs and, occasionally, visual defects or
DE   seizures. The most severe cases die pre- or perinatally with gross
DE   hydrocephalus and enlarged head circumference. Stenosis of the
DE   aqueduct of Sylvius is frequently associated with the disorder.
SY   HSAS.
SY   Hydrocephalus due to stenosis of the aqueduct of Sylvius.
DR   MIM; 307000; phenotype.
DR   MedGen; C0265216.
DR   MedGen; C1844006.
DR   MeSH; D006849.
//
ID   Hydrocephalus, normal pressure, 1.
AC   DI-05745
AR   HYDNP1.
DE   An autosomal dominant neurologic disorder characterized by a slowly
DE   progressive gait disorder, urinary incontinence, progressive
DE   intellectual decline, and ventricular enlargement on brain imaging.
DE   Cerebrospinal fluid pressure tends to be in the high normal range.
DR   MIM; 236690; phenotype.
DR   MedGen; C0020258.
DR   MeSH; D006850.
//
ID   Hydrolethalus syndrome 1.
AC   DI-01760
AR   HLS1.
DE   A lethal syndrome characterized by polydactyly, central nervous system
DE   malformation, and hydrocephalus. The polydactyly is postaxial in the
DE   hands and preaxial in the feet. A highly characteristic hallux duplex
DE   is seen in almost no other situation. In half of the cases, a large
DE   atrioventricular communis defect of the heart is found. The pregnancy
DE   is characterized by hydramnios, which is often massive, and by preterm
DE   delivery.
DR   MIM; 236680; phenotype.
DR   MedGen; C1856016.
DR   MeSH; D006228.
DR   MeSH; D006849.
KW   KW-1186:Ciliopathy.
//
ID   Hydrolethalus syndrome 2.
AC   DI-03208
AR   HLS2.
DE   An embryonic lethal disorder characterized by hydrocephaly or
DE   anencephaly, postaxial polydactyly of the upper limbs, and pre- or
DE   postaxial polydactyly of the lower limbs. Duplication of the hallux is
DE   a common finding.
DR   MIM; 614120; phenotype.
DR   MedGen; C3279899.
DR   MedGen; CN077931.
DR   MeSH; D006228.
DR   MeSH; D006849.
KW   KW-1186:Ciliopathy.
//
ID   Hydrops, lactic acidosis, and sideroblastic anemia.
AC   DI-04765
AR   HLASA.
DE   A lethal, multisystem metabolic disorder characterized by severe
DE   lactic acidosis, hydrops, and sideroblastic anemia. Additional
DE   features include impaired cardiac function, disordered coagulation,
DE   pulmonary hypertension, and progressive renal disease.
DR   MIM; 617021; phenotype.
DR   MedGen; CN237417.
DR   MeSH; D000756.
DR   MeSH; D004487.
DR   MeSH; D008659.
//
ID   Hydroxykynureninuria.
AC   DI-04276
AR   HYXKY.
DE   An inborn error of amino acid metabolism characterized by massive
DE   urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine
DE   and xanthurenic acid. Affected individuals manifest renal tubular
DE   dysfunction, metabolic acidosis, psychomotor retardation, non-
DE   progressive encephalopathy, and muscular hypertonia.
SY   Partial kynureninase deficiency.
SY   Xanthurenic aciduria.
DR   MIM; 236800; phenotype.
DR   MedGen; C0268474.
DR   MeSH; D000592.
//
ID   Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections.
AC   DI-01767
AR   HIES1.
DE   A rare disorder of immunity and connective tissue characterized by
DE   immunodeficiency, chronic eosinophilia, distinctive coarse facial
DE   appearance, abnormal dentition, hyperextensibility of the joints, and
DE   bone fractures.
SY   Buckley syndrome.
SY   HIES autosomal dominant.
SY   Hyper-IgE recurrent infection syndrome 1, autosomal dominant.
SY   Hyper-IgE recurrent infection syndrome autosomal dominant.
SY   Hyper-IgE syndrome autosomal dominant.
SY   Hyperimmunoglobulin E syndrome type 1.
SY   Job syndrome.
DR   MIM; 147060; phenotype.
DR   MedGen; C0022398.
DR   MedGen; C2936739.
DR   MedGen; C3489795.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections.
AC   DI-02809
AR   HIES2.
DE   A rare disorder characterized by immunodeficiency, recurrent
DE   infections, eczema, increased serum IgE, eosinophilia and lack of
DE   connective tissue and skeletal involvement.
SY   HIES autosomal recessive.
SY   Hyper-IgE recurrent infection syndrome 2, autosomal recessive.
SY   Hyper-IgE recurrent infection syndrome autosomal recessive.
SY   Hyper-IgE syndrome autosomal recessive.
SY   Hyperimmunoglobulin E syndrome type 2.
SY   Nonskeletal hyper IgE syndrome.
DR   MIM; 243700; phenotype.
DR   MedGen; C1968689.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections.
AC   DI-05462
AR   HIES3.
DE   An immunologic disorder characterized by skin bacterial infections in
DE   particular with Staphylococcus aureus, susceptibility to fungal
DE   infections such as chronic mucocutaneous candidiasis, atopic
DE   dermatitis, recurrent respiratory infections, bronchiectasis, and
DE   increased serum IgE and IgG. Immunologic work-up shows impaired
DE   differentiation of CD4+ T cells into T-helper 17 cells, decreased
DE   memory B cells, and often decreased NK cells. Some patients manifest
DE   extrahemapoietic features, including facial dysmorphism, abnormal
DE   dentition, alopecia, joint hypermobility and bone fractures. Disease
DE   onset is in early childhood.
SY   Hyper-IgE recurrent infection syndrome 3, autosomal recessive.
DR   MIM; 618282; phenotype.
DR   MedGen; CN258118.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections.
AC   DI-06348
AR   HIES4A.
DE   An immunologic disorder characterized by recurrent mainly sino-
DE   pulmonary infections associated with increased serum IgE. Some
DE   patients have onset of symptoms in early childhood and develop
DE   complications, including bronchiectasis or hemoptysis, whereas others
DE   have later onset of less severe infections. Immunologic workup usually
DE   shows normal leukocyte levels, although some patients may demonstrate
DE   alterations in lymphocyte subsets, including T cells. Affected
DE   individuals also have variable skeletal abnormalities, including high-
DE   arched palate, hyperextensible joints, scoliosis, and bone fractures.
SY   Hyper-IgE recurrent infection syndrome 4A, autosomal dominant.
DR   MIM; 619752; phenotype.
DR   MedGen; CN306775.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections.
AC   DI-05628
AR   HIES4B.
DE   An immunologic disorder characterized by recurrent infections, mainly
DE   affecting the respiratory tract, skin and eye, and skeletal
DE   abnormalities including craniosynostosis and scoliosis. Immunologic
DE   workup shows increased serum IgE, intermittent eosinophilia, impaired
DE   development of certain B- and T-cell populations, as well as impaired
DE   acute-phase response. Disease onset is in early childhood.
SY   Hyper-IgE recurrent infection syndrome 4B, autosomal recessive.
DR   MIM; 618523; phenotype.
DR   MedGen; CN262171.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections.
AC   DI-05873
AR   HIES5.
DE   An immunologic disorder characterized by recurrent sinopulmonary and
DE   deep skin infections, mostly caused by bacteria, including H.
DE   influenza and Staphylococcus aureus. Additional features include
DE   asthma, atopic dermatitis, and impaired inflammatory responses during
DE   infection. Disease onset is in early infancy.
SY   Hyper-IgE recurrent infection syndrome 5, autosomal recessive.
DR   MIM; 618944; phenotype.
DR   MedGen; CN283281.
DR   MeSH; D007589.
//
ID   Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.
AC   DI-06771
AR   HIES6.
DE   An immunologic disorder characterized by severe allergic disease with
DE   onset in infancy. Common features are treatment-resistant atopic
DE   dermatitis, food allergies, asthma, eosinophilic gastrointestinal
DE   disease, and severe episodes of anaphylaxis. Half of the patients
DE   present with recurrent skin, respiratory, and viral infections.
DE   Clinical laboratory testing is notable for eosinophilia and markedly
DE   elevated serum IgE levels.
DR   MIM; 620532; phenotype.
DR   MedGen; CN375558.
DR   MeSH; D007589.
//
ID   Hyperaldosteronism, familial, 1.
AC   DI-02693
AR   HALD1.
DE   A disorder characterized by hypertension, variable hyperaldosteronism,
DE   and abnormal adrenal steroid production, including 18-oxocortisol and
DE   18-hydroxycortisol. There is significant phenotypic heterogeneity, and
DE   some individuals never develop hypertension.
SY   ACTH-dependent hyperaldosteronism syndrome.
SY   Aldosteronism sensitive to dexamethasone.
SY   Dexamethasone sensitive hypertension.
SY   Familial hyperaldosteronism 1.
SY   Familial hyperaldosteronism type I.
SY   FH1.
SY   FH I.
SY   FH type 1.
SY   Glucocorticoid-remediable aldosteronism.
SY   Glucocorticoid sensitive hypertension.
SY   Glucocorticoid-suppressible hyperaldosteronism.
SY   GRA.
SY   GSH.
DR   MIM; 103900; phenotype.
DR   MedGen; C1260386.
DR   MeSH; D006929.
//
ID   Hyperaldosteronism, familial, 2.
AC   DI-05322
AR   HALD2.
DE   An autosomal dominant disorder characterized by elevated plasma
DE   aldosterone level and hypertension of varying severity even within
DE   members of the same family. Hypokalemia is observed in some patients.
DE   In HALD2, hypertension does not improve with glucocorticoid treatment.
SY   FH II.
SY   FH-II.
SY   Hyperaldosteronism, familial, type II.
DR   MIM; 605635; phenotype.
DR   MedGen; C1854107.
DR   MeSH; D006929.
//
ID   Hyperaldosteronism, familial, 3.
AC   DI-03198
AR   HALD3.
DE   A form of hyperaldosteronism characterized by hypertension secondary
DE   to massive adrenal mineralocorticoid production. HALD3 patients
DE   present with childhood hypertension, elevated aldosteronism levels,
DE   and high levels of the hybrid steroids 18-oxocortisol and 18-
DE   hydroxycortisol. Hypertension and aldosteronism are not reversed by
DE   administration of exogenous glucocorticoids and patients require
DE   adrenalectomy to control hypertension.
SY   Familial hyperaldosteronism 3.
SY   Familial hyperaldosteronism type III.
SY   FH3.
SY   FH III.
SY   FH type III.
DR   MIM; 613677; phenotype.
DR   MedGen; C3150933.
DR   MeSH; D006929.
//
ID   Hyperaldosteronism, familial, 4.
AC   DI-04759
AR   HALD4.
DE   A form of familial hyperaldosteronism, a disorder characterized by
DE   hypertension, elevated aldosterone levels despite low plasma renin
DE   activity, and abnormal adrenal steroid production. There is
DE   significant phenotypic heterogeneity, and some individuals never
DE   develop hypertension.
SY   FH IV.
SY   Hyperaldosteronism, familial, type IV.
SY   Primary aldosteronism and hypertension.
DR   MIM; 617027; phenotype.
DR   MedGen; CN237392.
DR   MeSH; D006929.
//
ID   Hyperalphalipoproteinemia 1.
AC   DI-01764
AR   HALP1.
DE   A condition characterized by high levels of high density lipoprotein
DE   (HDL) and increased HDL cholesterol levels.
SY   CETP deficiency.
SY   Cholesteryl ester transfer protein deficiency.
DR   MIM; 143470; phenotype.
DR   MedGen; C0342883.
DR   MedGen; C3149462.
DR   MedGen; C3149463.
DR   MeSH; D006951.
//
ID   Hyperalphalipoproteinemia 2.
AC   DI-03115
AR   HALP2.
DE   A condition characterized by high levels of high density lipoprotein
DE   (HDL) and increased HDL cholesterol levels.
SY   Apolipoprotein C-III deficiency.
DR   MIM; 614028; phenotype.
DR   MedGen; C3151467.
DR   MeSH; D006951.
//
ID   Hyperammonemia due to carbonic anhydrase VA deficiency.
AC   DI-04105
AR   CA5AD.
DE   An autosomal recessive inborn error of metabolism, clinically
DE   characterized by infantile hyperammonemic encephalopathy. Metabolic
DE   abnormalities include hypoglycemia, hyperlactatemia, metabolic
DE   acidosis and respiratory alkalosis.
DR   MIM; 615751; phenotype.
DR   MedGen; C3810404.
DR   MedGen; CN186198.
DR   MeSH; D022124.
//
ID   Hyperbilirubinemia, Rotor type.
AC   DI-03360
AR   HBLRR.
DE   An autosomal recessive form of primary conjugated hyperbilirubinemia.
DE   Affected individuals develop mild jaundice not associated with
DE   hemolysis shortly after birth or in childhood. They have delayed
DE   plasma clearance of the unconjugated anionic dye bromsulphthalein and
DE   prominent urinary excretion of coproporphyrin I. Hepatic pigmentation
DE   is normal.
SY   Rotor syndrome.
DR   MIM; 237450; phenotype.
DR   MedGen; C0220991.
DR   MeSH; D006932.
//
ID   Hyperbiliverdinemia.
AC   DI-03209
AR   HBLVD.
DE   A condition characterized by a green discoloration of the skin, urine,
DE   serum, and other bodily fluids. It is due to increased biliverdin
DE   resulting from inefficient conversion to bilirubin. Affected
DE   individuals appear to have symptoms only in the context of obstructive
DE   cholestasis and/or liver failure. In some cases, green jaundice can
DE   resolve after resolution of obstructive cholestasis.
SY   Green jaundice.
DR   MIM; 614156; phenotype.
DR   MedGen; C3279964.
DR   MeSH; D002779.
//
ID   Hypercalcemia, infantile, 1.
AC   DI-03214
AR   HCINF1.
DE   A disorder characterized by abnormally high level of calcium in the
DE   blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
SY   Hypercalcemia infantile.
SY   Idiopathic hypercalcemia of infancy.
DR   MIM; 143880; phenotype.
DR   MedGen; C0268080.
DR   MeSH; D006934.
//
ID   Hypercalcemia, infantile, 2.
AC   DI-04726
AR   HCINF2.
DE   An autosomal recessive form of hypercalcemia, a disorder characterized
DE   by abnormally high level of calcium in the blood, failure to thrive,
DE   vomiting, dehydration, and nephrocalcinosis.
DR   MIM; 616963; phenotype.
DR   MedGen; CN236717.
DR   MeSH; D006934.
//
ID   Hypercalciuria absorptive 2.
AC   DI-02646
AR   HCA2.
DE   A common type of hypercalciuria, a condition characterized by
DE   excessive urinary calcium excretion. Absorptive hypercalciuria is due
DE   to gastrointestinal hyperabsorption of calcium and is a frequent cause
DE   of calcium oxalate nephrolithiasis.
SY   Hypercalciuria familial idiopathic.
DR   MIM; 143870; phenotype.
DR   MedGen; C0342639.
DR   MeSH; D053565.
//
ID   Hypercarotenemia and vitamin A deficiency, autosomal dominant.
AC   DI-01210
AR   HCVAD.
DE   A disorder characterized by increased serum beta-carotene, decreased
DE   conversion of beta-carotene to vitamin A and decreased serum vitamin
DE   A.
SY   Hypercarotenemia and hypovitaminosis A.
DR   MIM; 115300; phenotype.
DR   MedGen; C2676023.
DR   MedGen; C2676024.
DR   MeSH; D014802.
//
ID   Hyperchlorhidrosis, isolated.
AC   DI-03013
AR   HYCHL.
DE   An autosomal recessive disorder characterized by excessive sweating
DE   and increased sweat chloride levels. Affected individuals suffer from
DE   episodes of hyponatremic dehydration and report increased amounts of
DE   visible salt precipitates in sweat.
DR   MIM; 143860; phenotype.
DR   MedGen; C1840437.
DR   MeSH; D006945.
//
ID   Hypercholanemia, familial, 1.
AC   DI-00492
AR   FHCA1.
DE   A disorder characterized by elevated serum bile acid concentrations,
DE   itching, and fat malabsorption.
SY   Bile acid, elevated serum.
DR   MIM; 607748; phenotype.
DR   MedGen; C1843139.
DR   MeSH; D008286.
//
ID   Hypercholanemia, familial, 2.
AC   DI-06067
AR   FHCA2.
DE   An autosomal recessive inborn error of metabolism characterized by
DE   persistently increased plasma levels of conjugated bile salts apparent
DE   from infancy, fat malabsorption and impaired absorption of fat-soluble
DE   vitamins, including D and K. Most patients are asymptomatic. Some
DE   neonates may have transient jaundice or transiently elevated liver
DE   enzymes.
SY   NTCPD.
SY   NTCP deficiency.
DR   MIM; 619256; phenotype.
DR   MedGen; CN296310.
DR   MeSH; D008286.
DR   MeSH; D043202.
//
ID   Hypercholesterolemia, familial, 1.
AC   DI-01577
AR   FHCL1.
DE   A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE   characterized by elevated serum low-density lipoprotein (LDL)
DE   cholesterol levels, which result in excess deposition of cholesterol
DE   in tissues and leads to xanthelasma, xanthomas, accelerated
DE   atherosclerosis and increased risk of premature coronary heart
DE   disease. FHCL1 inheritance is autosomal dominant.
SY   FH.
SY   FHC.
SY   Hypercholesterolemic xanthomatosis, familial.
SY   Hyperlipoproteinemia, type II.
SY   Hyperlipoproteinemia, type IIA.
SY   Hyper-low-density-lipoproteinemia.
SY   LDL receptor disorder.
DR   MIM; 143890; phenotype.
DR   MedGen; C0020445.
DR   MedGen; C0745103.
DR   MedGen; C3276941.
DR   MeSH; D006938.
//
ID   Hypercholesterolemia, familial, 2.
AC   DI-01591
AR   FHCL2.
DE   A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE   characterized by elevated serum low-density lipoprotein (LDL)
DE   cholesterol levels, which result in excess deposition of cholesterol
DE   in tissues and leads to xanthelasma, xanthomas, accelerated
DE   atherosclerosis and increased risk of premature coronary heart
DE   disease. FHCL2 inheritance is autosomal dominant.
SY   Familial ligand-defective apolipoprotein B-100.
SY   FDB.
DR   MIM; 144010; phenotype.
DR   MedGen; C1704417.
DR   MedGen; C2931106.
DR   MeSH; D006938.
//
ID   Hypercholesterolemia, familial, 3.
AC   DI-01578
AR   FHCL3.
DE   A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE   characterized by elevated serum low-density lipoprotein (LDL)
DE   cholesterol levels, which result in excess deposition of cholesterol
DE   in tissues and leads to xanthelasma, xanthomas, accelerated
DE   atherosclerosis and increased risk of premature coronary heart
DE   disease. FHCL3 inheritance is autosomal dominant.
SY   HCHOLA3.
SY   Hypercholesterolemia, autosomal dominant, 3.
DR   MIM; 603776; phenotype.
DR   MedGen; C1863551.
DR   MedGen; C3276239.
DR   MeSH; D006937.
//
ID   Hypercholesterolemia, familial, 4.
AC   DI-01242
AR   FHCL4.
DE   A form of hypercholesterolemia, a disorder of lipoprotein metabolism
DE   characterized by elevated serum low-density lipoprotein (LDL)
DE   cholesterol levels, which result in excess deposition of cholesterol
DE   in tissues and leads to xanthelasma, xanthomas, accelerated
DE   atherosclerosis and increased risk of premature coronary heart
DE   disease. FHCL4 inheritance is autosomal recessive.
SY   ARH.
SY   ARH1.
SY   ARH2.
SY   Autosomal recessive hypercholesterolemia 1.
SY   Autosomal recessive hypercholesterolemia 2.
SY   FHCB1.
SY   FHCB2.
SY   Hypercholesterolemia, autosomal recessive.
DR   MIM; 603813; phenotype.
DR   MedGen; C1863512.
DR   MeSH; D006937.
//
ID   HyperCKmia.
AC   DI-01766
AR   HYPCK.
DE   Characterized by persistent elevated levels of serum creatine kinase
DE   without muscle weakness.
DR   MIM; 123320; phenotype.
DR   MedGen; C0241005.
//
ID   Hyperekplexia 1.
AC   DI-01087
AR   HKPX1.
DE   A neurologic disorder characterized by muscular rigidity of central
DE   nervous system origin, particularly in the neonatal period, and by an
DE   exaggerated startle response to unexpected acoustic or tactile
DE   stimuli.
SY   Congenital stiff-man syndrome.
SY   Congenital stiff-person syndrome.
SY   Exaggerated startle reaction.
SY   Familial startle disease.
SY   Hereditary hyperexplexia 1.
SY   Hyperekplexia hereditary 1 autosomal dominant or recessive.
SY   Kok disease.
SY   STHE.
SY   Stiff-baby syndrome.
DR   MIM; 149400; phenotype.
DR   MedGen; C1835614.
DR   MeSH; D000071017.
//
ID   Hyperekplexia 2.
AC   DI-03457
AR   HKPX2.
DE   A neurologic disorder characterized by muscular rigidity of central
DE   nervous system origin, particularly in the neonatal period, and by an
DE   exaggerated startle response to unexpected acoustic or tactile
DE   stimuli.
SY   Autosomal recessive hyperekplexia 2.
DR   MIM; 614619; phenotype.
DR   MedGen; C3553291.
DR   MeSH; D000071017.
//
ID   Hyperekplexia 3.
AC   DI-03456
AR   HKPX3.
DE   A neurologic disorder characterized by neonatal hypertonia, an
DE   exaggerated startle response to tactile or acoustic stimuli, and life-
DE   threatening neonatal apnea episodes. Notably, in some cases, symptoms
DE   resolved in the first year of life.
DR   MIM; 614618; phenotype.
DR   MedGen; C3553288.
DR   MedGen; CN124884.
DR   MeSH; D000071017.
//
ID   Hyperekplexia 4.
AC   DI-05272
AR   HKPX4.
DE   An autosomal recessive severe neurologic disorder apparent from birth.
DE   HKPX4 is characterized by little if any development, hypertonia,
DE   early-onset refractory seizures in some patients, and respiratory
DE   failure resulting in early death, mostly in the first months of life.
DR   MIM; 618011; phenotype.
DR   MedGen; CN248518.
DR   MeSH; D000071017.
//
ID   Hyperferritinemia with or without cataract.
AC   DI-01718
AR   HRFTC.
DE   An autosomal dominant disease characterized by elevated level of
DE   ferritin in serum and tissues, and early-onset bilateral cataract.
DE   Cataracts may be subclinical in some patients.
SY   HHCS.
SY   Hyperferritinemia, hereditary, with congenital cataracts.
SY   Hyperferritinemia-cataract syndrome.
DR   MIM; 600886; phenotype.
DR   MedGen; C1833213.
DR   MeSH; D002386.
DR   MeSH; D019189.
KW   KW-0898:Cataract.
//
ID   Hyperglycinemia, lactic acidosis, and seizures.
AC   DI-03379
AR   HGCLAS.
DE   An enzymatic defect resulting in an autosomal recessive disorder of
DE   mitochondrial metabolism. It is characterized by early-onset lactic
DE   acidosis, severe encephalomyopathy, and a pyruvate oxidation defect.
DE   Affected individuals have neonatal-onset epilepsy, poor growth,
DE   psychomotor retardation, muscular hypotonia, lactic acidosis, and
DE   elevated glycine concentration in plasma and urine.
SY   PDHLD.
SY   Pyruvate dehydrogenase lipoic acid synthetase deficiency.
DR   MIM; 614462; phenotype.
DR   MedGen; C3280887.
DR   MeSH; D008661.
//
ID   Hyperglycinuria.
AC   DI-02939
AR   HG.
DE   A condition characterized by excess of glycine in the urine. In some
DE   cases it is associated with renal colic and renal oxalate stones.
SY   Glycinuria with or without oxalate nephrolithiasis.
SY   Glycinuria with or without oxalate urolithiasis.
SY   Iminoglycinuria type II.
DR   MIM; 138500; phenotype.
DR   MedGen; C0543541.
DR   MeSH; D000608.
//
ID   Hyperimmunoglobulinemia D and periodic fever syndrome.
AC   DI-01768
AR   HIDS.
DE   Autosomal recessive disease characterized by recurrent episodes of
DE   unexplained high fever associated with skin rash, diarrhea, adenopathy
DE   (swollen, tender lymph nodes), arthralgias and/or arthritis.
DE   Concentration of IgD, and often IgA, are above normal.
DR   MIM; 260920; phenotype.
DR   MedGen; C0398691.
//
ID   Hyperinsulinemic hypoglycemia, familial, 1.
AC   DI-01579
AR   HHF1.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF1 is the most common cause of persistent
DE   hypoglycemia in infancy. Unless early and aggressive intervention is
DE   undertaken, brain damage from recurrent episodes of hypoglycemia may
DE   occur. HHF1 inheritance can be autosomal dominant or autosomal
DE   recessive.
SY   Congenital hyperinsulinism.
SY   Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.
SY   Hyperinsulinemic hypoglycemia of infancy.
SY   Hyperinsulinism, congenital.
SY   Hyperinsulinism, familial, with pancreatic nesidioblastosis.
SY   Nesidioblastosis of pancreas.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 256450; phenotype.
DR   MedGen; C1257959.
DR   MeSH; D044903.
//
ID   Hyperinsulinemic hypoglycemia, familial, 2.
AC   DI-01580
AR   HHF2.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF2 is a common cause of persistent hypoglycemia in
DE   infancy. Unless early and aggressive intervention is undertaken, brain
DE   damage from recurrent episodes of hypoglycemia may occur. HHF2
DE   inheritance can be autosomal dominant or autosomal recessive.
SY   Congenital hyperinsulinism.
SY   Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.
SY   Hyperinsulinism, congenital.
SY   Hyperinsulinism, neonatal.
SY   Nesidioblastosis.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 601820; phenotype.
DR   MedGen; C2931833.
DR   MeSH; D044903.
//
ID   Hyperinsulinemic hypoglycemia, familial, 3.
AC   DI-01581
AR   HHF3.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF3 clinical features include loss of consciousness
DE   due to hypoglycemia, hypoglycemic coma, mental retardation due to
DE   repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is
DE   autosomal dominant.
DR   MIM; 602485; phenotype.
DR   MedGen; C1865290.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperinsulinemic hypoglycemia, familial, 4.
AC   DI-01582
AR   HHF4.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF4 clinical features include hypoglycemic coma,
DE   mental retardation due to repeated episodes of hypoglycemia, and
DE   seizures. HHF4 inheritance is autosomal recessive.
DR   MIM; 609975; phenotype.
DR   MedGen; C1864948.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperinsulinemic hypoglycemia, familial, 5.
AC   DI-01583
AR   HHF5.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF5 clinical features include loss of consciousness
DE   due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is
DE   autosomal dominant.
DR   MIM; 609968; phenotype.
DR   MedGen; C1864952.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperinsulinemic hypoglycemia, familial, 6.
AC   DI-01769
AR   HHF6.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF6 is an autosomal dominant form characterized by
DE   hypoglycemia due to congenital hyperinsulinism combined with
DE   persistent hyperammonemia. Clinical features include loss of
DE   consciousness due to hypoglycemia, hypoglycemic seizures, and mental
DE   retardation.
SY   Hyperinsulinism-hyperammonemia syndrome.
DR   MIM; 606762; phenotype.
DR   MedGen; C1847555.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperinsulinemic hypoglycemia, familial, 7.
AC   DI-01584
AR   HHF7.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF7 features include exercise-induced
DE   hyperinsulinism, loss of consciousness due to hypoglycemia, and
DE   hypoglycemic seizures. HHF7 inheritance is autosomal dominant.
SY   Exercise-induced hyperinsulinemic hypoglycemia.
DR   MIM; 610021; phenotype.
DR   MedGen; C1864902.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperinsulinemic hypoglycemia, familial, 8.
AC   DI-06591
AR   HHF8.
DE   A form of hyperinsulinemic hypoglycemia, a clinically and genetically
DE   heterogeneous disorder characterized by inappropriate insulin
DE   secretion from the pancreatic beta-cells in the presence of low blood
DE   glucose levels. HHF8 is an autosomal recessive form characterized by
DE   episodes of symptomatic hypoglycemia provoked by protein feeding, and
DE   persistent mild hyperammonemia. Affected children tend to have
DE   recurrent generalized seizures.
DR   MIM; 620211; phenotype.
DR   MedGen; CN323170.
DR   MeSH; D006946.
DR   MeSH; D007003.
//
ID   Hyperlipidemia, familial combined, 1.
AC   DI-02816
AR   FCHL1.
DE   A disorder characterized by a variable pattern of elevated levels of
DE   serum total cholesterol, triglycerides or both. It is observed in a
DE   percentage of individuals with premature coronary heart disease.
SY   Familial combined hyperlipidemia type 1.
SY   Hyperlipidemia combined, 1.
SY   HYPLIP1.
DR   MIM; 602491; phenotype.
DR   MedGen; C1865289.
DR   MeSH; D006950.
//
ID   Hyperlipidemia, familial combined, 3.
AC   DI-05232
AR   FCHL3.
DE   A disorder characterized by a variable pattern of elevated levels of
DE   serum total cholesterol, triglycerides or both. It is observed in a
DE   percentage of individuals with premature coronary heart disease. FCHL3
DE   inheritance is autosomal dominant.
SY   Familial combined hyperlipidemia.
DR   MIM; 144250; phenotype.
DR   MedGen; C0020474.
DR   MeSH; D006950.
//
ID   Hyperlipoproteinemia 1.
AC   DI-01911
AR   HLPP1.
DE   An autosomal recessive metabolic disorder characterized by defective
DE   breakdown of dietary fats, impaired clearance of chylomicrons from
DE   plasma causing the plasma to have a milky appearance, and severe
DE   hypertriglyceridemia. On a normal diet, patients often present with
DE   abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive
DE   xanthomata, and massive hypertriglyceridemia, sometimes complicated
DE   with acute pancreatitis.
SY   Chylomicronemia, familial.
SY   Hyperchylomicronemia, familial.
SY   Hyperlipemia, essential familial.
SY   Hyperlipemia, idiopathic, Burger-Grutz type.
SY   Hyperlipoproteinemia, type IA.
SY   Lipase D deficiency.
SY   LIPD deficiency.
SY   Lipoprotein lipase deficiency.
SY   LPL deficiency.
DR   MIM; 238600; phenotype.
DR   MedGen; C0023817.
DR   MedGen; C1706413.
DR   MeSH; D006951.
//
ID   Hyperlipoproteinemia 1B.
AC   DI-01770
AR   HLPP1B.
DE   Autosomal recessive trait characterized by hypertriglyceridemia,
DE   xanthomas, and increased risk of pancreatitis and early
DE   atherosclerosis.
SY   APOC2 deficiency.
SY   Hyperlipoproteinemia type IB.
DR   MIM; 207750; phenotype.
DR   MedGen; C1720779.
//
ID   Hyperlipoproteinemia 1D.
AC   DI-04193
AR   HLPP1D.
DE   An autosomal recessive disorder characterized by hyperlipoproteinemia,
DE   decreased plasma LPL levels in some patients, high plasma triglyceride
DE   levels, and refractory fasting chylomicronemia.
SY   Hyperlipoproteinemia, type ID.
DR   MIM; 615947; phenotype.
DR   MedGen; CN207817.
DR   MeSH; D008072.
//
ID   Hyperlipoproteinemia 3.
AC   DI-01771
AR   HLPP3.
DE   A disorder characterized by the accumulation of intermediate-density
DE   lipoprotein particles (IDL or broad-beta-lipoprotein) rich in
DE   cholesterol. Clinical features include xanthomas, yellowish lipid
DE   deposits in the palmar crease, or less specific on tendons and on
DE   elbows. The disorder rarely manifests before the third decade in men.
DE   In women, it is usually expressed only after the menopause.
SY   Broad beta disease.
SY   Broad-betalipoproteinemia.
SY   Deficiency or defect of apolipoprotein E.
SY   Dysbetalipoproteinemia due to defect in apolipoprotein E.
SY   Familial dysbetalipoproteinemia.
SY   Familial hyperbeta- and prebetalipoproteinemia.
SY   Familial hypercholesterolemia with hyperlipemia.
SY   Floating-betalipoproteinemia.
SY   Hyperlipemia with familial hypercholesterolemic xanthomatosis.
SY   Hyperlipoproteinemia type III.
DR   MIM; 617347; phenotype.
DR   MedGen; C0020479.
DR   MeSH; D006952.
//
ID   Hyperlipoproteinemia 5.
AC   DI-01772
AR   HLPP5.
DE   Characterized by increased amounts of chylomicrons and very low
DE   density lipoprotein (VLDL) and decreased low density lipoprotein (LDL)
DE   and high density lipoprotein (HDL) in the plasma after a fast.
DE   Numerous conditions cause this phenotype, including insulin-dependent
DE   diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen
DE   storage disease type 1A (GSD1A).
SY   Hyperlipoproteinemia type V.
DR   MIM; 144650; phenotype.
DR   MedGen; C0020481.
DR   MedGen; C3489395.
//
ID   Hyperlysinemia, 1.
AC   DI-01773
AR   HYPLYS1.
DE   An autosomal recessive metabolic condition with variable clinical
DE   features. Some patients present with non-specific seizures, hypotonia,
DE   or mildly delayed psychomotor development, and increased serum lysine
DE   and pipecolic acid on laboratory analysis. However, about half of the
DE   probands are reported to be asymptomatic, and hyperlysinemia is
DE   generally considered to be a benign metabolic variant.
SY   Alpha-aminoadipic semialdehyde synthase deficiency.
SY   Hyperlysinemia type I.
SY   L-lysine:NAD-oxido-reductase deficiency.
SY   Lysine:alpha-ketoglutarate reductase deficiency.
SY   Lysine intolerance.
DR   MIM; 238700; phenotype.
DR   MedGen; C0268553.
DR   MedGen; C1282843.
DR   MeSH; D020167.
//
ID   Hypermanganesemia with dystonia 1.
AC   DI-04212
AR   HMNDYT1.
DE   A metabolic autosomal recessive disorder characterized by dystonia,
DE   parkinsonism, extrapyramidal signs, severe hypermanganesemia,
DE   polycythemia, and chronic hepatic disease, including steatosis and
DE   cirrhosis.
SY   HMDPC.
SY   Hypermanganesemia with dystonia, polycythemia, and cirrhosis.
DR   MIM; 613280; phenotype.
DR   MedGen; C2750442.
DR   MeSH; D008659.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Hypermanganesemia with dystonia 2.
AC   DI-04753
AR   HMNDYT2.
DE   A metabolic autosomal recessive disorder characterized by increased
DE   blood manganese levels, neurodegeneration, and rapidly progressive
DE   parkinsonism and dystonia. Affected individuals present with loss of
DE   developmental milestones, progressive dystonia and bulbar dysfunction
DE   in infancy or early childhood. Towards the end of the first decade,
DE   they manifest severe generalized pharmacoresistant dystonia,
DE   spasticity, limb contractures and scoliosis, and loss of independent
DE   ambulation. Cognition may be impaired, but is better preserved than
DE   motor function.
DR   MIM; 617013; phenotype.
DR   MedGen; CN237172.
DR   MeSH; D008659.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2.
AC   DI-06541
AR   HUMOP2.
DE   A disorder apparent in infancy and characterized by euthyroid
DE   hypermetabolism, failure to thrive despite excessive caloric intake,
DE   intermittent hyperthermia, and developmental delay.
DR   MIM; 620085; phenotype.
DR   MedGen; CN322462.
DR   MeSH; D008659.
//
ID   Hypermethioninemia due to adenosine kinase deficiency.
AC   DI-03295
AR   HMAKD.
DE   A metabolic disorder characterized by global developmental delay,
DE   early-onset seizures, mild dysmorphic features, and characteristic
DE   biochemical anomalies, including persistent hypermethioninemia with
DE   increased levels of S-adenosylmethionine and S-adenosylhomocysteine.
DE   Homocysteine levels are typically normal.
SY   MRT8.
DR   MIM; 614300; phenotype.
DR   MedGen; C3280381.
DR   MeSH; D000592.
//
ID   Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.
AC   DI-01774
AR   HMAHCHD.
DE   A metabolic disorder characterized by hypermethioninemia associated
DE   with failure to thrive, mental and motor retardation, facial
DE   dysmorphism with abnormal hair and teeth, and myocardiopathy.
DR   MIM; 613752; phenotype.
DR   MedGen; C3151058.
DR   MeSH; D000592.
//
ID   Hyperornithinemia with gyrate atrophy of choroid and retina.
AC   DI-01775
AR   HOGA.
DE   A disorder clinically characterized by a triad of progressive
DE   chorioretinal degeneration, early cataract formation, and type II
DE   muscle fiber atrophy. Characteristic chorioretinal atrophy with
DE   progressive constriction of the visual fields leads to blindness at
DE   the latest during the sixth decade of life. Patients generally have
DE   normal intelligence.
SY   GACR.
SY   Gyrate atrophy.
SY   Gyrate atrophy of choroid and retina.
SY   OAT deficiency.
SY   OKT deficiency.
SY   Ornithine aminotransferase deficiency.
SY   Ornithine-delta-aminotransferase deficiency.
SY   Ornithine keto acid aminotransferase deficiency.
DR   MIM; 258870; phenotype.
DR   MedGen; C0599035.
DR   MeSH; D015799.
//
ID   Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
AC   DI-01776
AR   HHHS.
DE   An autosomal recessive disorder of the urea cycle characterized by
DE   onset in early life. The acute phase of the disease is characterized
DE   by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical
DE   manifestations include hypotonia, developmental delay, progressive
DE   encephalopathy with mental regression, and spastic paraparesis with
DE   pyramidal signs.
SY   HHH syndrome.
SY   Ornithine translocase deficiency.
DR   MIM; 238970; phenotype.
DR   MedGen; C0268540.
DR   MeSH; D056806.
//
ID   Hyperostosis cranialis interna.
AC   DI-05257
AR   HCIN.
DE   An autosomal dominant bone disorder characterized by endosteal
DE   hyperostosis and osteosclerosis of the calvaria and the skull base.
DE   The progressive bone overgrowth causes entrapment and dysfunction of
DE   cranial nerves I, II, V, VII, and VIII, its first symptoms often
DE   presenting during the second decade of life.
DR   MIM; 144755; phenotype.
DR   MedGen; C1840404.
DR   MeSH; D015576.
//
ID   Hyperoxaluria primary 1.
AC   DI-01778
AR   HP1.
DE   An inborn error of glyoxylate metabolism characterized by increased
DE   excretion of oxalate and glycolate, and progressive tissue
DE   accumulation of insoluble calcium oxalate. Affected individuals are at
DE   risk for nephrolithiasis, nephrocalcinosis and early onset end-stage
DE   renal disease.
SY   Alanine-glyoxylate aminotransferase deficiency.
SY   Glycolic aciduria.
SY   Hepatic AGT deficiency.
SY   Hyperoxaluria primary type I.
SY   Oxalosis I.
SY   Peroxisomal alanine glyoxylate aminotransferase deficiency.
SY   PH1.
SY   Primary hyperoxaluria type I.
SY   Serine pyruvate aminotransferase deficiency.
DR   MIM; 259900; phenotype.
DR   MedGen; C0268164.
DR   MeSH; D006960.
//
ID   Hyperoxaluria primary 2.
AC   DI-01779
AR   HP2.
DE   A disorder characterized by elevated urinary excretion of oxalate and
DE   L-glycerate, progressive tissue accumulation of insoluble calcium
DE   oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal
DE   disease.
SY   D-glycerate dehydrogenase deficiency.
SY   Glyceric aciduria.
SY   Glyoxylate reductase/hydroxypyruvate reductase deficiency.
SY   Hyperoxaluria primary type II.
SY   L-glyceric aciduria.
SY   Oxalosis II.
SY   PH2.
SY   Primary hyperoxaluria type II.
DR   MIM; 260000; phenotype.
DR   MedGen; C0268165.
DR   MeSH; D006960.
//
ID   Hyperoxaluria primary 3.
AC   DI-02917
AR   HP3.
DE   A disorder phenotypically similar to hyperoxaluria type 1 and type 2.
DE   It is characterized by increase in urinary oxalate excretion and mild
DE   glycolic aciduria. Clinical manifestations include calcium oxalate
DE   urolithiasis, hematuria, pain, and/or urinary tract infection.
SY   Hyperoxaluria non-HP1/non-HP2.
SY   Hyperoxaluria non-PH I/PH II form.
SY   Hyperoxaluria primary type III.
DR   MIM; 613616; phenotype.
DR   MedGen; C3150878.
DR   MeSH; D006960.
//
ID   Hyperparathyroidism 1.
AC   DI-01589
AR   HRPT1.
DE   An autosomal dominant disorder characterized by hypercalcemia,
DE   elevated parathyroid hormone (PTH) levels, and uniglandular or
DE   multiglandular parathyroid hyperplasia, adenomas, and carcinomas.
SY   Familial isolated hyperparathyroidism.
SY   FIHP.
SY   Hyperparathyroidism, familial, isolated, primary.
DR   MIM; 145000; phenotype.
DR   MedGen; C1840402.
DR   MeSH; D049950.
//
ID   Hyperparathyroidism 2 with jaw tumors.
AC   DI-01780
AR   HRPT2.
DE   An autosomal dominant neoplasia syndrome characterized by primary
DE   hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible,
DE   renal tumor, and uterine tumors. It is associated with increased risk
DE   of parathyroid cancer.
SY   Familial primary hyperparathyroidism with multiple ossifying jaw fibromas.
SY   HPT-JT.
SY   Hyperparathyroidism-jaw tumor syndrome.
DR   MIM; 145001; phenotype.
DR   MedGen; C1704981.
DR   MeSH; D049950.
//
ID   Hyperparathyroidism 4.
AC   DI-04951
AR   HRPT4.
DE   A form of familial primary hyperparathyroidism, a hypercalcemic
DE   disorder caused by inappropriate oversecretion of parathyroid hormone
DE   due to parathyroid hyperplasia or neoplasms. Clinical features include
DE   hypercalcemia, phosphaturia, and increased bone resorption. HRPT4
DE   inheritance is autosomal dominant.
DR   MIM; 617343; phenotype.
DR   MedGen; CN240514.
DR   MeSH; D049950.
//
ID   Hyperparathyroidism, neonatal severe.
AC   DI-02039
AR   NSHPT.
DE   A disorder characterized by severe hypercalcemia, bone
DE   demineralization, and failure to thrive usually manifesting in the
DE   first 6 months of life. If untreated, NSHPT can be a devastating
DE   neurodevelopmental disorder, which in some cases is lethal without
DE   parathyroidectomy.
SY   Neonatal severe primary hyperparathyroidism.
SY   NHPT.
SY   NSPH.
DR   MIM; 239200; phenotype.
DR   MedGen; C1832645.
DR   MeSH; D049950.
//
ID   Hyperparathyroidism, transient neonatal.
AC   DI-05388
AR   HRPTTN.
DE   An autosomal recessive disease characterized by impaired
DE   transplacental maternal-fetal transport of calcium, high serum PTH
DE   levels and signs of metabolic bone disease in the neonatal period.
DE   Skeletal anomalies include generalized osteopenia, narrow chest, short
DE   ribs with multiple healing fractures, and bowing or fractures of long
DE   bones. Affected individuals experience postnatal respiratory and
DE   feeding difficulties. The condition improves within a short time after
DE   birth once calcium is provided orally.
DR   MIM; 618188; phenotype.
DR   MedGen; CN257787.
DR   MeSH; D006961.
//
ID   Hyperphenylalaninemia.
AC   DI-01781
AR   HPA.
DE   Mildest form of phenylalanine hydroxylase deficiency.
DR   MIM; 261600; phenotype.
DR   MedGen; C2678416.
//
ID   Hyperphenylalaninemia, BH4-deficient, A.
AC   DI-01277
AR   HPABH4A.
DE   An autosomal recessive disorder characterized by
DE   hyperphenylalaninemia, depletion of the neurotransmitters dopamine and
DE   serotonin, and progressive cognitive and motor deficits. Neurological
DE   symptoms are unresponsive to the classic phenylalanine-low diet.
SY   6-pyruvoyl-tetrahydropterin synthase deficiency.
SY   Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency.
SY   PTPSD.
SY   PTSD.
SY   PTS deficiency.
DR   MIM; 261640; phenotype.
DR   MedGen; C0878676.
DR   MedGen; C2678415.
DR   MedGen; CN068421.
DR   MeSH; D010661.
//
ID   Hyperphenylalaninemia, BH4-deficient, B.
AC   DI-00538
AR   HPABH4B.
DE   A disease characterized by malignant hyperphenylalaninemia due to
DE   tetrahydrobiopterin deficiency, and defective neurotransmission due to
DE   depletion of the neurotransmitters dopamine and serotonin. The
DE   principal symptoms include: psychomotor retardation, tonicity
DE   disorders, convulsions, drowsiness, irritability, abnormal movements,
DE   hyperthermia, hypersalivation, and difficulty swallowing. Some
DE   patients may present a phenotype of intermediate severity between
DE   severe hyperphenylalaninemia and mild dystonia. In this intermediate
DE   phenotype, there is marked motor delay, but no intellectual disability
DE   and only minimal, if any, hyperphenylalaninemia.
SY   Atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency.
SY   GCH1 deficiency.
SY   Guanosine triphosphate cyclohydrolase I deficiency.
SY   Hyperphenylalaninemia with neopterin deficiency.
DR   MIM; 233910; phenotype.
DR   MedGen; C0268467.
DR   MeSH; D010661.
//
ID   Hyperphenylalaninemia, BH4-deficient, C.
AC   DI-01278
AR   HPABH4C.
DE   Rare autosomal recessive disorder characterized by
DE   hyperphenylalaninemia and severe neurologic symptoms (malignant
DE   hyperphenylalaninemia) including axial hypotonia and truncal
DE   hypertonia, abnormal thermogenesis, and microcephaly. These signs are
DE   attributable to depletion of the neurotransmitters dopamine and
DE   serotonin, whose syntheses are controlled by tryptophan and tyrosine
DE   hydroxylases that use BH-4 as cofactor. Patients do not respond to
DE   phenylalanine-restricted diet. HPABH4C is lethal if untreated.
SY   DHPR deficiency.
SY   Dihydropteridine reductase deficiency.
SY   Hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency.
SY   QDPR deficiency.
SY   Quinoid dihydropteridine reductase deficiency.
DR   MIM; 261630; phenotype.
DR   MedGen; C0268465.
DR   MeSH; D010661.
//
ID   Hyperphenylalaninemia, BH4-deficient, D.
AC   DI-01279
AR   HPABH4D.
DE   An autosomal recessive disease characterized by primapterinuria, a
DE   variant form of hyperphenylalaninemia defined by increased excretion
DE   of 7-substituted pterins in the urine. Patients with primapterinuria
DE   show an increased ratio of neopterin to biopterin in the urine,
DE   excretion of subnormal levels of biopterins, and normal levels of
DE   biogenic amines in cerebrospinal fluid. Neurologic signs are mild,
DE   present in the neonatal period only, and include hypotonia, delayed
DE   motor development and tremor.
SY   CADH deficiency.
SY   Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PHS deficiency.
SY   Hyperphenylalaninemia tetrahydrobiopterin-deficient due to pterin-4-alpha-carbinolamine dehydratase deficiency.
SY   Hyperphenylalaninemia with primapterinuria.
SY   PCBD deficiency.
SY   PHS deficiency.
SY   Pterin-4-alpha-carbinolamine dehydratase deficiency.
DR   MIM; 264070; phenotype.
DR   MedGen; C1849700.
DR   MeSH; D010661.
//
ID   Hyperphenylalaninemia, mild, non-BH4-deficient.
AC   DI-04966
AR   HPANBH4.
DE   An autosomal recessive disorder characterized by increased serum
DE   phenylalanine, normal BH4 metabolism, and highly variable neurologic
DE   defects, including movement abnormalities and intellectual disability.
DR   MIM; 617384; phenotype.
DR   MedGen; CN240901.
DR   MeSH; D000592.
//
ID   Hyperphosphatasia with impaired intellectual development syndrome 1.
AC   DI-02921
AR   HPMRS1.
DE   A severe syndrome characterized by elevated serum alkaline
DE   phosphatase, severe intellectual disability, seizures, hypotonia,
DE   facial dysmorphism, and hypoplastic terminal phalanges.
SY   Glycosylphosphatidylinositol biosynthesis defect 2.
SY   GPIBD2.
SY   Mabry syndrome.
DR   MIM; 239300; phenotype.
DR   MedGen; C1855923.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Hyperphosphatasia with impaired intellectual development syndrome 2.
AC   DI-03510
AR   HPMRS2.
DE   An autosomal recessive form of intellectual disability characterized
DE   by facial dysmorphism, brachytelephalangy, and persistent elevated
DE   serum alkaline phosphatase (hyperphosphatasia). Some patients may have
DE   additional features, such as cardiac septal defects or seizures.
SY   Glycosylphosphatidylinositol biosynthesis defect 6.
SY   GPIBD6.
DR   MIM; 614749; phenotype.
DR   MedGen; C3553637.
DR   MedGen; CN130636.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Hyperphosphatasia with impaired intellectual development syndrome 3.
AC   DI-03720
AR   HPMRS3.
DE   An autosomal recessive disorder usually characterized by intellectual
DE   disability, hypotonia with very poor motor development, poor speech,
DE   and increased serum alkaline phosphatase.
SY   Glycosylphosphatidylinositol biosynthesis defect 8.
SY   GPIBD8.
SY   MRT17.
SY   MRT21.
DR   MIM; 614207; phenotype.
DR   MedGen; C3280153.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Hyperphosphatasia with impaired intellectual development syndrome 4.
AC   DI-04049
AR   HPMRS4.
DE   An autosomal recessive neurologic disorder characterized by profound
DE   developmental delay, severe intellectual disability, no speech,
DE   psychomotor delay, postnatal microcephaly, and elevated serum alkaline
DE   phosphatase.
SY   Glycosylphosphatidylinositol biosynthesis defect 10.
SY   GPIBD10.
DR   MIM; 615716; phenotype.
DR   MedGen; C3810354.
DR   MedGen; CN185452.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Hyperphosphatasia with impaired intellectual development syndrome 6.
AC   DI-04648
AR   HPMRS6.
DE   An autosomal recessive, multisystem disorder characterized by severe
DE   developmental delay, dysmorphism, seizures, cataracts, and early death
DE   in some patients.
DR   MIM; 616809; phenotype.
DR   MedGen; CN235185.
DR   MeSH; D008607.
DR   MeSH; D010760.
KW   KW-0991:Intellectual disability.
//
ID   Hyperpigmentation with or without hypopigmentation, familial progressive.
AC   DI-02576
AR   FPHH.
DE   A disorder characterized by hyperpigmented patches in the skin,
DE   present in early infancy and increasing in size and number with age.
DE   Hyperpigmentation has variable intensity, and sometimes is associated
DE   with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
SY   Melanosis universalis hereditaria.
SY   MUH.
DR   MIM; 145250; phenotype.
DR   MedGen; C1840392.
//
ID   Hyperproinsulinemia.
AC   DI-01585
AR   HPRI.
DE   An autosomal dominant condition characterized by elevated levels of
DE   serum proinsulin-like material.
DR   MIM; 616214; phenotype.
DR   MedGen; C0342283.
DR   MeSH; D003920.
//
ID   Hyperprolactinemia.
AC   DI-03975
AR   HPRL.
DE   A disorder characterized by increased levels of prolactin in the blood
DE   not associated with gestation or the puerperium. HPRL may result in
DE   infertility, hypogonadism, and galactorrhea.
DR   MIM; 615555; phenotype.
DR   MedGen; C0020514.
DR   MeSH; D006966.
//
ID   Hyperprolinemia 1.
AC   DI-01782
AR   HYRPRO1.
DE   An inborn error of proline metabolism resulting in elevated levels of
DE   proline in the plasma and urine. The disorder is generally benign and
DE   most affected individuals are clinically asymptomatic. Some patients,
DE   however, have neurologic manifestations, including epilepsy and
DE   intellectual disability. Association with certain forms of
DE   schizophrenia have been reported.
SY   HPI.
SY   Hyperprolinemia type I.
SY   Proline oxidase deficiency.
DR   MIM; 239500; phenotype.
DR   MedGen; C0268529.
DR   MeSH; D000592.
//
ID   Hyperprolinemia 2.
AC   DI-01783
AR   HYRPRO2.
DE   An inborn error of proline metabolism resulting in elevated plasma
DE   levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The
DE   condition is considered to be benign, but affected individuals can
DE   exhibit neurological manifestations that vary in severity. Clinical
DE   signs include seizures, intellectual deficit and mild developmental
DE   delay.
SY   1-pyrroline-5-carboxylate dehydrogenase deficiency.
SY   HPII.
SY   Hyperprolinemia type II.
DR   MIM; 239510; phenotype.
DR   MedGen; C2931835.
DR   MeSH; D000592.
//
ID   Hypersulfaturia.
AC   DI-06685
AR   HYSULF.
DE   An autosomal recessive inborn error of sulfate homeostasis resulting
DE   in urinary sulfate wasting and low plasma sulfate. Clinical features
DE   include costochondritis, perichondritis of the costovertebral joints,
DE   and chest pain.
DR   MIM; 620372; phenotype.
DR   MedGen; CN327134.
DR   MeSH; D008659.
//
ID   Hypertension and brachydactyly syndrome.
AC   DI-04464
AR   HTNB.
DE   A syndrome characterized by brachydactyly type E, severe salt-
DE   independent but age-dependent hypertension, an increased fibroblast
DE   growth rate, neurovascular contact at the rostral-ventrolateral
DE   medulla, and altered baroreflex blood pressure regulation. It results
DE   in death from stroke before age 50 years when untreated. Brachydactyly
DE   type E is characterized by shortening of the fingers mainly in the
DE   metacarpals and metatarsals.
SY   Bilginturan syndrome.
SY   Brachydactyly, type E, with short stature and hypertension.
SY   Brachydactyly type E with short stature and hypertension.
SY   Brachydactyly with hypertension.
DR   MIM; 112410; phenotype.
DR   MedGen; C1862170.
DR   MeSH; D006973.
DR   MeSH; D059327.
//
ID   Hyperthyroidism, non-autoimmune.
AC   DI-02059
AR   HTNA.
DE   A condition characterized by abnormally high levels of serum thyroid
DE   hormones, thyroid hyperplasia, goiter and lack of anti-thyroid
DE   antibodies. Typical features of Graves disease such as exophthalmia,
DE   myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of
DE   the thyroid gland are absent.
SY   Familial hyperthyroidism due to mutations in TSH receptor.
SY   Familial non-immune hyperthyroidism.
SY   Hyperthyroidism congenital non-autoimmune.
SY   Hyperthyroidism non-autoimmune autosomal dominant.
SY   Resistance to thyroid stimulating hormone.
SY   Toxic thyroid hyperplasia autosomal dominant.
DR   MIM; 609152; phenotype.
DR   MedGen; C1836706.
DR   MeSH; D006980.
//
ID   Hyperthyroxinemia, dystransthyretinemic.
AC   DI-01785
AR   DTTRH.
DE   A condition characterized by elevation of total and free thyroxine in
DE   healthy, euthyroid persons without detectable binding protein
DE   abnormalities.
SY   Dystransthyretinemic euthyroidal hyperthyroxinemia.
SY   Euthryroidal hyperthyroxinemia 2.
SY   Hyperthyroxinemia dysprealbuminemic.
SY   Hyperthyroxinemia dystransthyretinemic.
DR   MIM; 145680; phenotype.
DR   MedGen; C2750824.
DR   MeSH; D006981.
//
ID   Hyperthyroxinemia, familial dysalbuminemic.
AC   DI-01565
AR   FDAH.
DE   A disorder characterized by abnormally elevated levels of total serum
DE   thyroxine (T4) in euthyroid patients. It is due to abnormal serum
DE   albumin that binds T4 with enhanced affinity.
SY   Bisalbuminemia.
DR   MIM; 615999; phenotype.
DR   MedGen; C0342185.
DR   MeSH; D050010.
//
ID   Hypertrichotic osteochondrodysplasia.
AC   DI-03485
AR   HTOCD.
DE   A rare disorder characterized by congenital hypertrichosis, neonatal
DE   macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The
DE   hypertrichosis leads to thick scalp hair, which extends onto the
DE   forehead, and a general increase in body hair. In addition,
DE   macrocephaly and coarse facial features, including a broad nasal
DE   bridge, epicanthal folds, a wide mouth, and full lips, can be
DE   suggestive of a storage disorder. About half of affected individuals
DE   are macrosomic and edematous at birth, whereas in childhood they
DE   usually have a muscular appearance with little subcutaneous fat.
DE   Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid
DE   vertebral bodies, coxa valga, osteopenia, enlarged medullary canals,
DE   and metaphyseal widening of long bones have been reported. Cardiac
DE   manifestations such as patent ductus arteriosus, ventricular
DE   hypertrophy, pulmonary hypertension, and pericardial effusions are
DE   present in approximately 80% of cases. Motor development is usually
DE   delayed due to hypotonia. Most patients have a mild speech delay, and
DE   a small percentage have learning difficulties or intellectual
DE   disability.
SY   Cantu syndrome.
DR   MIM; 239850; phenotype.
DR   MedGen; C0795905.
DR   MeSH; D006983.
DR   MeSH; D010009.
//
ID   Hypertriglyceridemia 1.
AC   DI-01586
AR   HYTG1.
DE   A common inherited disorder in which the concentration of very low
DE   density lipoprotein (VLDL) is elevated in the plasma. This leads to
DE   increased risk of heart disease, obesity, and pancreatitis.
DE   Inheritance is autosomal dominant.
SY   Hypertriglyceridemia, familial.
DR   MIM; 145750; phenotype.
DR   MedGen; C5444012.
DR   MeSH; D006953.
//
ID   Hypertriglyceridemia 2.
AC   DI-06131
AR   HYTG2.
DE   An autosomal dominant form of hypertriglyceridemia, a disorder
DE   characterized by elevated plasma triglyceride levels. HYTG2 patients
DE   also have increased total cholesterol levels and low levels of high
DE   density lipoprotein (HDL) cholesterol. Reduced penetrance has been
DE   observed.
DR   MIM; 619324; phenotype.
DR   MedGen; CN296937.
DR   MeSH; D015228.
//
ID   Hypertriglyceridemia, transient infantile.
AC   DI-03387
AR   HTGTI.
DE   An autosomal recessive disorder characterized by onset of moderate to
DE   severe transient hypertriglyceridemia in infancy that normalizes with
DE   age. The hypertriglyceridemia is associated with hepatomegaly,
DE   moderately elevated transaminases, persistent fatty liver, and the
DE   development of hepatic fibrosis.
DR   MIM; 614480; phenotype.
DR   MedGen; C3280953.
DR   MeSH; D015228.
//
ID   Hypertrophic osteoarthropathy, primary, autosomal dominant.
AC   DI-06152
AR   PHOAD.
DE   A form of primary hypertrophic osteoarthropathy, a disease
DE   characterized by digital clubbing, periostosis, acroosteolysis,
DE   painful joint enlargement, and variable features of pachydermia that
DE   include thickened facial skin and a thickened scalp. PHOAD patients
DE   may also experience joint swelling and pain, and some have reported
DE   gastrointestinal symptoms, including watery diarrhea. Males are more
DE   commonly affected, and more severely affected, than females.
DR   MIM; 167100; phenotype.
DR   MedGen; C2674695.
DR   MeSH; D010004.
//
ID   Hypertrophic osteoarthropathy, primary, autosomal recessive, 1.
AC   DI-02204
AR   PHOAR1.
DE   A disease characterized by digital clubbing, periostosis,
DE   acroosteolysis, painful joint enlargement, and variable features of
DE   pachydermia that include thickened facial skin and a thickened scalp.
DE   Other developmental anomalies include delayed closure of the cranial
DE   sutures and congenital heart disease.
SY   Pachydermoperiostosis autosomal recessive.
SY   PDP autosomal recessive.
SY   PHO autosomal recessive.
SY   Touraine-Solente-Gole syndrome.
DR   MIM; 259100; phenotype.
DR   MedGen; C0029411.
DR   MedGen; C2678440.
DR   MedGen; C2678441.
DR   MeSH; D010004.
//
ID   Hypertrophic osteoarthropathy, primary, autosomal recessive, 2.
AC   DI-03345
AR   PHOAR2.
DE   A disease characterized by digital clubbing, periostosis,
DE   acroosteolysis, painful joint enlargement, and variable features of
DE   pachydermia that include thickened facial skin and a thickened scalp.
DE   Other developmental anomalies include delayed closure of the cranial
DE   sutures and congenital heart disease.
DR   MIM; 614441; phenotype.
DR   MedGen; C3280800.
DR   MedGen; CN120637.
DR   MeSH; D010004.
//
ID   Hypertryptophanemia.
AC   DI-05124
AR   HYPTRP.
DE   An autosomal recessive condition characterized by persistent
DE   hypertryptophanemia and hyperserotoninemia.
SY   Hypertryptophanemia, familial.
DR   MIM; 600627; phenotype.
DR   MedGen; C1833562.
DR   MeSH; D000592.
//
ID   Hyperuricemia, HPRT-related.
AC   DI-01683
AR   HRH.
DE   An X-linked metabolic disorder characterized by uric acid excess in
DE   the blood, renal stones, uric acid nephropathy, and renal obstruction.
DE   After puberty, the hyperuricemia may cause gout.
SY   HPRT1 deficiency, partial.
SY   HPRT deficiency, partial.
SY   HPRT-related gout.
SY   Kelley-Seegmiller syndrome.
DR   MIM; 300323; phenotype.
DR   MedGen; C0268117.
DR   MeSH; D006073.
//
ID   Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.
AC   DI-03111
AR   HUPRAS.
DE   A multisystem disorder characterized by onset in infancy of
DE   progressive renal failure leading to electrolyte imbalances, metabolic
DE   alkalosis, pulmonary hypertension, hypotonia, and delayed development.
DE   Affected individuals are born prematurely.
SY   HUPRA syndrome.
DR   MIM; 613845; phenotype.
DR   MedGen; C3151209.
DR   MeSH; D000471.
DR   MeSH; D006976.
DR   MeSH; D033461.
DR   MeSH; D051437.
//
ID   Hypervalinemia and hyperleucine-isoleucinemia.
AC   DI-05797
AR   HVLI.
DE   An autosomal recessive metabolic disorder characterized by highly
DE   elevated plasma concentrations of valine and leucine/isoleucine.
DE   Affected individuals suffer from headache and mild memory impairment.
SY   Branched-chain aminotransferase deficiency.
SY   Hypervalinemia or hyperleucine-isoleucinemia.
DR   MIM; 618850; phenotype.
DR   MedGen; CN280851.
DR   MeSH; D000592.
//
ID   Hypoalphalipoproteinemia, primary, 1.
AC   DI-01743
AR   FHA1.
DE   An autosomal dominant disorder characterized by decreased plasma high
DE   density lipoproteins, moderately low HDL cholesterol, a reduction in
DE   cellular cholesterol efflux, and susceptibility to premature coronary
DE   artery disease.
SY   Familial HDL deficiency.
SY   Familial hypoalphalipoproteinemia.
SY   FHA.
SY   FHD.
SY   HDLD2.
SY   High density lipoprotein deficiency 2.
DR   MIM; 604091; phenotype.
DR   MedGen; C1704429.
DR   MedGen; C2931838.
DR   MeSH; D052456.
//
ID   Hypoalphalipoproteinemia, primary, 2.
AC   DI-05627
AR   FHA2.
DE   An autosomal recessive disorder of lipoprotein metabolism,
DE   biochemically characterized by severe apoA-I deficiency and severely
DE   reduced serum high-density lipoprotein cholesterol (HDL-C). Affected
DE   individuals have undetectable serum levels of apoA-I, and develop
DE   xanthomas and corneal opacities. The disease is generally associated
DE   with atherosclerosis and markedly increased cardiovascular risk.
SY   Apolipoprotein A-I deficiency.
SY   High density lipoprotein deficiency.
SY   Hypoalphalipoproteinemia, primary, 2, autosomal recessive.
DR   MIM; 618463; phenotype.
DR   MedGen; CN262194.
DR   MeSH; D052456.
//
ID   Hypoalphalipoproteinemia, primary, 2, intermediate.
AC   DI-06397
AR   FHA2I.
DE   An autosomal dominant disorder of lipoprotein metabolism,
DE   biochemically characterized by partial apoA-I deficiency and reduced
DE   serum high-density lipoprotein cholesterol (HDL-C). Affected
DE   individuals have half the normal plasma apoA-I and HDL-C levels, and
DE   may develop xanthomas and corneal opacities. Most patients do not have
DE   increased cardiovascular risk.
SY   Hypoalphalipoproteinemia, primary, 2, autosomal dominant.
DR   MIM; 619836; phenotype.
DR   MedGen; CN311635.
DR   MeSH; D052456.
//
ID   Hypobetalipoproteinemia, familial, 1.
AC   DI-01587
AR   FHBL1.
DE   A disorder of lipid metabolism characterized by less than 5th
DE   percentile age- and sex-specific levels of low density lipoproteins,
DE   and dietary fat malabsorption. Clinical presentation may vary from no
DE   symptoms to severe gastrointestinal and neurological dysfunction
DE   similar to abetalipoproteinemia.
SY   Acanthocytosis with hypobetalipoproteinemia.
SY   Familial hypobetalipoproteinemia.
SY   FHBL.
SY   Normotriglyceridemic hypobetalipoproteinemia.
DR   MIM; 615558; phenotype.
DR   MedGen; C1862598.
DR   MedGen; CN182502.
DR   MeSH; D006995.
//
ID   Hypobetalipoproteinemia, familial, 2.
AC   DI-03014
AR   FHBL2.
DE   A disorder of lipid metabolism characterized by less than 5th
DE   percentile age- and sex-specific levels of low density lipoproteins,
DE   and dietary fat malabsorption. Affected individuals present with
DE   combined hypolipidemia, consisting of extremely low plasma levels of
DE   LDL cholesterol, HDL cholesterol, and triglycerides.
SY   Combined hypobetalipoproteinemia familial.
DR   MIM; 605019; phenotype.
DR   MedGen; C1857970.
DR   MeSH; D006995.
//
ID   Hypocalcemia, autosomal dominant 1.
AC   DI-03841
AR   HYPOC1.
DE   A disorder of mineral homeostasis characterized by blood calcium
DE   levels below normal, and low or normal serum parathyroid hormone
DE   concentrations. Disease manifestations include mild or asymptomatic
DE   hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria
DE   with nephrocalcinosis or kidney stones, and ectopic and basal ganglia
DE   calcifications. Few patients manifest hypocalcemia and features of
DE   Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic
DE   alkalosis, hyperreninemia, and hyperaldosteronemia.
SY   Autosomal dominant hypocalcemia with Bartter syndrome.
SY   Familial hypocalcemia.
SY   Hypercalciuric hypocalcemia.
DR   MIM; 601198; phenotype.
DR   MedGen; C0342345.
DR   MedGen; CN178679.
DR   MeSH; D006996.
//
ID   Hypocalcemia, autosomal dominant 2.
AC   DI-03851
AR   HYPOC2.
DE   A form of hypocalcemia, a disorder of mineral homeostasis
DE   characterized by blood calcium levels below normal, and low or normal
DE   serum parathyroid hormone concentrations. Disease manifestations
DE   include hypocalcemia, paresthesias, carpopedal spasm, seizures,
DE   hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and
DE   basal ganglia calcifications.
DR   MIM; 615361; phenotype.
DR   MedGen; C3809243.
DR   MedGen; CN178678.
DR   MeSH; D006996.
//
ID   Hypocalciuric hypercalcemia, familial 1.
AC   DI-01588
AR   HHC1.
DE   A form of hypocalciuric hypercalcemia, a disorder of mineral
DE   homeostasis that is transmitted as an autosomal dominant trait with a
DE   high degree of penetrance. It is characterized biochemically by
DE   lifelong elevation of serum calcium concentrations and is associated
DE   with inappropriately low urinary calcium excretion and a normal or
DE   mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE   is typically present. Affected individuals are usually asymptomatic
DE   and the disorder is considered benign. However, chondrocalcinosis and
DE   pancreatitis occur in some adults.
SY   Familial benign hypercalcemia 1.
SY   Familial benign hypocalciuric hypercalcemia 1.
SY   FBH1.
SY   FBHH1.
SY   FHH.
SY   FHH1.
SY   HHC.
SY   Hypocalciuric hypercalcemia type I.
DR   MIM; 145980; phenotype.
DR   MedGen; C0342637.
DR   MedGen; C1809471.
DR   MedGen; C1840348.
DR   MeSH; D006934.
//
ID   Hypocalciuric hypercalcemia, familial 2.
AC   DI-03852
AR   HHC2.
DE   A form of hypocalciuric hypercalcemia, a disorder of mineral
DE   homeostasis that is transmitted as an autosomal dominant trait with a
DE   high degree of penetrance. It is characterized biochemically by
DE   lifelong elevation of serum calcium concentrations and is associated
DE   with inappropriately low urinary calcium excretion and a normal or
DE   mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE   is typically present. Affected individuals are usually asymptomatic
DE   and the disorder is considered benign. However, chondrocalcinosis and
DE   pancreatitis occur in some adults.
SY   Familial benign hypercalcemia type II.
SY   FBH2.
DR   MIM; 145981; phenotype.
DR   MedGen; C1840347.
DR   MeSH; D006934.
//
ID   Hypocalciuric hypercalcemia, familial 3.
AC   DI-03662
AR   HHC3.
DE   A form of hypocalciuric hypercalcemia, a disorder of mineral
DE   homeostasis that is transmitted as an autosomal dominant trait with a
DE   high degree of penetrance. It is characterized biochemically by
DE   lifelong elevation of serum calcium concentrations and is associated
DE   with inappropriately low urinary calcium excretion and a normal or
DE   mildly elevated circulating parathyroid hormone level. Hypermagnesemia
DE   is typically present. Affected individuals are usually asymptomatic
DE   and the disorder is considered benign. However, chondrocalcinosis and
DE   pancreatitis occur in some adults.
SY   Familial benign hypercalcemia 3.
SY   Familial benign hypercalcemia Oklahoma type.
SY   Familial benign hypocalciuric hypercalcemia 3.
SY   FBH3.
SY   FBHH3.
SY   FHH3.
SY   Hypocalciuric hypercalcemia type III.
DR   MIM; 600740; phenotype.
DR   MedGen; C1833372.
DR   MeSH; D006934.
//
ID   Hypochondroplasia.
AC   DI-01786
AR   HCH.
DE   Autosomal dominant disease and is characterized by disproportionate
DE   short stature. It resembles achondroplasia, but with a less severe
DE   phenotype.
DR   MIM; 146000; phenotype.
DR   MedGen; C0410529.
//
ID   Hypogonadotropic hypogonadism 1 with or without anosmia.
AC   DI-00617
AR   HH1.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   Anosmic hypogonadism.
SY   Dysplasia olfactogenitalis of De Morsier.
SY   HHA.
SY   Hypogonadotropic hypogonadism and anosmia.
SY   KAL1.
SY   Kallmann syndrome 1.
SY   KMS.
DR   MIM; 308700; phenotype.
DR   MedGen; C1563719.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 10 with or without anosmia.
AC   DI-03570
AR   HH10.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614839; phenotype.
DR   MedGen; C3553843.
DR   MedGen; CN143962.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 11 with or without anosmia.
AC   DI-03571
AR   HH11.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614840; phenotype.
DR   MedGen; C3553844.
DR   MedGen; CN143963.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 12 with or without anosmia.
AC   DI-03572
AR   HH12.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   Eunuchoidism, familial hypogonadotropic.
SY   FIGD.
SY   Gonadotropin deficiency, familial idiopathic.
DR   MIM; 614841; phenotype.
DR   MedGen; C3553845.
DR   MedGen; CN143964.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 13 with or without anosmia.
AC   DI-03573
AR   HH13.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614842; phenotype.
DR   MedGen; C3541462.
DR   MedGen; CN143965.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 14 with or without anosmia.
AC   DI-03574
AR   HH14.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614858; phenotype.
DR   MedGen; C3540450.
DR   MedGen; CN158713.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 15 with or without anosmia.
AC   DI-03575
AR   HH15.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614880; phenotype.
DR   MedGen; C3553977.
DR   MedGen; CN158801.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 16 with or without anosmia.
AC   DI-03576
AR   HH16.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614897; phenotype.
DR   MedGen; C3554021.
DR   MedGen; CN159226.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 17 with or without anosmia.
AC   DI-03768
AR   HH17.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 615266; phenotype.
DR   MedGen; C3808971.
DR   MedGen; CN170853.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 18 with or without anosmia.
AC   DI-03769
AR   HH18.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 615267; phenotype.
DR   MedGen; C3808975.
DR   MedGen; CN170854.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 19 with or without anosmia.
AC   DI-03770
AR   HH19.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 615269; phenotype.
DR   MedGen; C3808981.
DR   MedGen; CN170855.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 2 with or without anosmia.
AC   DI-00618
AR   HH2.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   KAL2.
SY   Kallmann syndrome 2.
DR   MIM; 147950; phenotype.
DR   MedGen; C1563720.
DR   MedGen; C1835793.
DR   MedGen; C1835794.
DR   MedGen; C1969607.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 20 with or without anosmia.
AC   DI-03771
AR   HH20.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 615270; phenotype.
DR   MedGen; C3808983.
DR   MedGen; CN170856.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 21 with or without anosmia.
AC   DI-03772
AR   HH21.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 615271; phenotype.
DR   MedGen; C3808986.
DR   MedGen; CN170857.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 22 with or without anosmia.
AC   DI-04228
AR   HH22.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 616030; phenotype.
DR   MedGen; CN219577.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 23 with or without anosmia.
AC   DI-01614
AR   HH23.
DE   A form of hypogonadotropic hypogonadism, a group of disorders
DE   characterized by absent or incomplete sexual maturation by the age of
DE   18 years, in conjunction with low levels of circulating gonadotropins
DE   and testosterone and no other abnormalities of the hypothalamic-
DE   pituitary axis. HH23 male patients have normal sexual differentiation,
DE   reduced or absent Leydig cells, reduced or absent spermatogenesis, and
DE   absence of spontaneous puberty. Female patients exhibit normal
DE   pubertal development and menarche, followed by oligomenorrhea and
DE   anovulatory secondary amenorrhea.
SY   Fertile eunuch syndrome.
SY   Pasqualini syndrome.
DR   MIM; 228300; phenotype.
DR   MedGen; C0271582.
DR   MeSH; D005058.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 24 with or without anosmia.
AC   DI-01840
AR   HH24.
DE   A form of hypogonadotropic hypogonadism, a group of disorders
DE   characterized by absent or incomplete sexual maturation by the age of
DE   18 years, in conjunction with low levels of circulating gonadotropins
DE   and testosterone and no other abnormalities of the hypothalamic-
DE   pituitary axis. HH24 is characterized by primary amenorrhea in women,
DE   oligo or azoospermia with low to normal testosterone levels in men,
DE   and infertility.
SY   Follicle-stimulating hormone deficiency, isolated.
DR   MIM; 229070; phenotype.
DR   MedGen; C1856716.
DR   MeSH; D007006.
DR   MeSH; D007246.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 25 with anosmia.
AC   DI-05798
AR   HH25.
DE   A form of hypogonadotropic hypogonadism, a group of disorders
DE   characterized by absent or incomplete sexual maturation by the age of
DE   18 years, in conjunction with low levels of circulating gonadotropins
DE   and testosterone, and no other abnormalities of the hypothalamic-
DE   pituitary axis. In some cases, it is associated with non-reproductive
DE   phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE   loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE   the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE   hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE   whereas in the presence of a normal sense of smell, it has been termed
DE   normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an
DE   autosomal dominant form with anosmia, characterized by intrafamilial
DE   variable expressivity and incomplete penetrance.
DR   MIM; 618841; phenotype.
DR   MedGen; CN272917.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 26 with or without anosmia.
AC   DI-06321
AR   HH26.
DE   A form of hypogonadotropic hypogonadism, a group of disorders
DE   characterized by absent or incomplete sexual maturation by the age of
DE   18 years, in conjunction with low levels of circulating gonadotropins
DE   and testosterone, and no other abnormalities of the hypothalamic-
DE   pituitary axis. In some cases, it is associated with non-reproductive
DE   phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE   loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE   the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE   hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE   whereas in the presence of a normal sense of smell, it has been termed
DE   normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is
DE   characterized by micropenis and cryptorchidism at birth in male
DE   patients, and absent puberty and anosmia in male or female patients.
DE   Some affected individuals also exhibit craniosynostosis. Inheritance
DE   can be autosomal dominant or autosomal recessive.
DR   MIM; 619718; phenotype.
DR   MedGen; CN306196.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 27 without anosmia.
AC   DI-06349
AR   HH27.
DE   A form of hypogonadotropic hypogonadism, a group of disorders
DE   characterized by absent or incomplete sexual maturation by the age of
DE   18 years, in conjunction with low levels of circulating gonadotropins
DE   and testosterone, and no other abnormalities of the hypothalamic-
DE   pituitary axis. In some cases, it is associated with non-reproductive
DE   phenotypes, such as anosmia, cleft palate, and sensorineural hearing
DE   loss. Anosmia or hyposmia is related to the absence or hypoplasia of
DE   the olfactory bulbs and tracts. In the presence of anosmia, idiopathic
DE   hypogonadotropic hypogonadism is referred to as Kallmann syndrome,
DE   whereas in the presence of a normal sense of smell, it has been termed
DE   normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH27 is an
DE   autosomal recessive normosmic form characterized by lack of pubertal
DE   development associated with onset of obesity in early adolescence.
DR   MIM; 619755; phenotype.
DR   MedGen; CN306632.
DR   MeSH; D017436.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 3 with or without anosmia.
AC   DI-00619
AR   HH3.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   KAL3.
SY   Kallmann syndrome 3.
DR   MIM; 244200; phenotype.
DR   MedGen; C2930927.
DR   MedGen; C3550478.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 4 with or without anosmia.
AC   DI-00620
AR   HH4.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   KAL4.
SY   Kallmann syndrome 4.
DR   MIM; 610628; phenotype.
DR   MedGen; C1857720.
DR   MedGen; C3552343.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 5 with or without anosmia.
AC   DI-00621
AR   HH5.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   KAL5.
SY   Kallmann syndrome 5.
DR   MIM; 612370; phenotype.
DR   MedGen; C2675302.
DR   MedGen; C3552553.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 6 with or without anosmia.
AC   DI-00622
AR   HH6.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   KAL6.
SY   Kallmann syndrome 6.
DR   MIM; 612702; phenotype.
DR   MedGen; C2675188.
DR   MedGen; C3552574.
DR   MeSH; D017436.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 7 with or without anosmia.
AC   DI-00595
AR   HH7.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
SY   Congenital hypogonadotropic hypogonadism normosmic.
SY   HH.
SY   Hypogonadotropic hypogonadism.
SY   Idiopathic hypogonadotropic hypogonadism.
SY   IHH.
SY   Isolated hypogonadotropic hypogonadism.
DR   MIM; 146110; phenotype.
DR   MedGen; C0342384.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 8 with or without anosmia.
AC   DI-03568
AR   HH8.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614837; phenotype.
DR   MedGen; C3553841.
DR   MedGen; CN143960.
DR   MeSH; D007006.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypogonadotropic hypogonadism 9 with or without anosmia.
AC   DI-03569
AR   HH9.
DE   A disorder characterized by absent or incomplete sexual maturation by
DE   the age of 18 years, in conjunction with low levels of circulating
DE   gonadotropins and testosterone and no other abnormalities of the
DE   hypothalamic-pituitary axis. In some cases, it is associated with non-
DE   reproductive phenotypes, such as anosmia, cleft palate, and
DE   sensorineural hearing loss. Anosmia or hyposmia is related to the
DE   absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism
DE   is due to deficiency in gonadotropin-releasing hormone and probably
DE   results from a failure of embryonic migration of gonadotropin-
DE   releasing hormone-synthesizing neurons. In the presence of anosmia,
DE   idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
DE   syndrome, whereas in the presence of a normal sense of smell, it has
DE   been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
DR   MIM; 614838; phenotype.
DR   MedGen; C3553842.
DR   MedGen; CN143961.
DR   MeSH; D007006.
KW   KW-0956:Kallmann syndrome.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Hypoinsulinemic hypoglycemia with hemihypertrophy.
AC   DI-03305
AR   HIHGHH.
DE   A disorder characterized by hypoglycemia, low insulin levels, low
DE   serum levels of ketone bodies and branched-chain amino acids, left-
DE   sided hemihypertrophy, neonatal macrosomia, reduced consciousness and
DE   hypoglycemic seizures.
DR   MIM; 240900; phenotype.
DR   MedGen; C3278384.
DR   MeSH; D007003.
//
ID   Hypokalemic tubulopathy and deafness.
AC   DI-06151
AR   HKTD.
DE   An autosomal recessive disease characterized by renal tubulopathy with
DE   hypokalemia, salt wasting, disturbed acid-base homeostasis, and
DE   sensorineural deafness.
DR   MIM; 619406; phenotype.
DR   MedGen; CN299282.
DR   MeSH; D006319.
DR   MeSH; D015499.
KW   KW-0209:Deafness.
//
ID   Hypomagnesemia 1.
AC   DI-00576
AR   HOMG1.
DE   A disorder due to a primary defect in intestinal magnesium absorption.
DE   It is characterized by low levels of serum magnesium alongside with a
DE   normal renal magnesium secretion, secondary hypocalcemia and
DE   calcinocis. Affected individuals show neurologic symptoms of
DE   hypomagnesemic hypocalcemia, including seizures and muscle spasms,
DE   during infancy. Hypocalcemia is secondary to parathyroid failure
DE   resulting from magnesium deficiency. Untreated, the disorder may be
DE   fatal or may result in neurological damage.
SY   HOMG.
SY   HSH.
SY   Hypomagnesemia with secondary hypocalcemia.
SY   Hypomagnesemic tetany.
SY   Intestinal hypomagnesemia 1.
SY   Intestinal hypomagnesemia with secondary hypocalcemia.
DR   MIM; 602014; phenotype.
DR   MedGen; C0269941.
DR   MedGen; C0342658.
DR   MedGen; C1865974.
DR   MeSH; D008286.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 2.
AC   DI-00577
AR   HOMG2.
DE   A disorder due to primary renal wasting of magnesium. Plasma levels of
DE   other electrolytes are normal. The only abnormality found, in addition
DE   to low magnesium levels, is lowered renal excretion of calcium
DE   resulting in hypocalciuria.
SY   Dominant renal hypomagnesemia.
SY   Hypomagnesemia with hypocalciuria.
SY   Isolated renal magnesium loss.
SY   Renal hypomagnesemia 2.
SY   Renal magnesium wasting.
DR   MIM; 154020; phenotype.
DR   MedGen; C1835171.
DR   MeSH; D015499.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 3.
AC   DI-00578
AR   HOMG3.
DE   A progressive renal disease characterized by primary renal magnesium
DE   wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis.
DE   Recurrent urinary tract infections and kidney stones are often
DE   observed. In spite of hypercalciuria, patients do not show
DE   hypocalcemia.
SY   Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
SY   FHHNC.
SY   HHN.
SY   Renal hypomagnesemia hypercalciuria nephrocalcinosis.
DR   MIM; 248250; phenotype.
DR   MedGen; C0268448.
DR   MedGen; C3151482.
DR   MeSH; D009397.
DR   MeSH; D015499.
DR   MeSH; D053565.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 4.
AC   DI-00579
AR   HOMG4.
DE   A disorder characterized by massive renal hypomagnesemia and normal
DE   levels of serum calcium and calcium excretion. Clinical features
DE   include seizures, mild-to moderate psychomotor retardation, and brisk
DE   tendon reflexes.
SY   Renal hypomagnesemia normocalciuric.
DR   MIM; 611718; phenotype.
DR   MedGen; C2673648.
DR   MeSH; D015499.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 5, renal, with or without ocular involvement.
AC   DI-00575
AR   HOMG5.
DE   A progressive renal disease characterized by primary renal magnesium
DE   wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis
DE   associated with severe ocular abnormalities such as bilateral
DE   chorioretinal scars, macular colobomata, significant myopia and
DE   nystagmus. The renal phenotype is virtually undistinguishable from
DE   that of patients with HOMG3.
SY   Familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement.
SY   FHHNC with severe ocular involvement.
SY   Hypomagnesemia 5.
SY   Hypomagnesemia 5 renal with ocular involvement.
SY   Hypomagnesemia renal with ocular involvement.
SY   Macular coloboma bilateral with hypercalciuria.
DR   MIM; 248190; phenotype.
DR   MedGen; C1855466.
DR   MeSH; D009397.
DR   MeSH; D015499.
DR   MeSH; D053565.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 6.
AC   DI-03071
AR   HOMG6.
DE   A renal disease characterized by severely lowered serum magnesium
DE   levels in the absence of other electrolyte disturbances. Affected
DE   individuals show an inappropriately normal urinary magnesium
DE   excretion, demonstrating a defect in tubular reabsorption. Age of
DE   clinical onset is highly variable and some affected individuals are
DE   asymptomatic.
DR   MIM; 613882; phenotype.
DR   MedGen; C3151295.
DR   MeSH; D015499.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia 7, renal, with or without dilated cardiomyopathy.
AC   DI-06559
AR   HOMG7.
DE   An autosomal dominant renal disease characterized by hypomagnesemia,
DE   hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients
DE   develop severe dilated cardiomyopathy.
DR   MIM; 620152; phenotype.
DR   MedGen; CN322565.
DR   MeSH; D015499.
KW   KW-0122:Cardiomyopathy.
KW   KW-0982:Primary hypomagnesemia.
//
ID   Hypomagnesemia, seizures, and impaired intellectual development 1.
AC   DI-04456
AR   HOMGSMR1.
DE   A disease characterized by renal wasting of magnesium, low serum
DE   magnesium, seizures, and variable degrees of delayed psychomotor
DE   development.
DR   MIM; 616418; phenotype.
DR   MedGen; CN231255.
DR   MeSH; D008607.
DR   MeSH; D012640.
DR   MeSH; D015499.
KW   KW-0887:Epilepsy.
KW   KW-0982:Primary hypomagnesemia.
KW   KW-0991:Intellectual disability.
//
ID   Hypomagnesemia, seizures, and impaired intellectual development 2.
AC   DI-05475
AR   HOMGSMR2.
DE   An autosomal dominant disease characterized by generalized seizures in
DE   infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures
DE   persist despite magnesium supplementation and are associated with
DE   significant intellectual disability.
DR   MIM; 618314; phenotype.
DR   MedGen; CN258187.
DR   MeSH; D008607.
DR   MeSH; D012640.
DR   MeSH; D015499.
KW   KW-0887:Epilepsy.
KW   KW-0982:Primary hypomagnesemia.
KW   KW-0991:Intellectual disability.
//
ID   Hypomyelination with brainstem and spinal cord involvement and leg spasticity.
AC   DI-03775
AR   HBSL.
DE   An autosomal recessive leukoencephalopathy characterized by onset in
DE   the first year of life of severe spasticity, mainly affecting the
DE   lower limbs and resulting in an inability to achieve independent
DE   ambulation. Affected individuals show delayed motor development and
DE   nystagmus; some may have mild intellectual disability. Brain MRI shows
DE   hypomyelination and white matter lesions in the cerebrum, brainstem,
DE   cerebellum, and spinal cord.
DR   MIM; 615281; phenotype.
DR   MedGen; C3809008.
DR   MedGen; CN176915.
DR   MeSH; D009128.
DR   MeSH; D020279.
//
ID   Hypoparathyroidism, familial isolated, 1.
AC   DI-01590
AR   FIH1.
DE   A form of hypoparathyroidism, a disorder characterized by hypocalcemia
DE   and hyperphosphatemia due to a deficiency of parathyroid hormone.
DE   Clinical features include seizures, tetany and cramps. FIH1
DE   inheritance can be autosomal dominant or recessive.
DR   MIM; 146200; phenotype.
DR   MedGen; C1840334.
DR   MeSH; D007011.
//
ID   Hypoparathyroidism, familial isolated, 2.
AC   DI-05841
AR   FIH2.
DE   An autosomal recessive form of hypoparathyroidism, a disorder
DE   characterized by hypocalcemia and hyperphosphatemia due to a
DE   deficiency of parathyroid hormone. Clinical features include seizures,
DE   tetany and cramps.
DR   MIM; 618883; phenotype.
DR   MedGen; CN280929.
DR   MeSH; D007011.
//
ID   Hypoparathyroidism, sensorineural deafness, and renal disease.
AC   DI-01792
AR   HDR.
DE   A disease characterized by steroid-resistant nephrosis with
DE   progressive renal failure, hypoparathyroidism, sensorineural deafness,
DE   and renal dysplasia.
SY   Barakat syndrome.
SY   Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
SY   Nephrosis, nerve deafness, and hypoparathyroidism.
DR   MIM; 146255; phenotype.
DR   MedGen; C1840333.
DR   MeSH; D006319.
DR   MeSH; D007011.
DR   MeSH; D009401.
KW   KW-0209:Deafness.
//
ID   Hypoparathyroidism, X-linked.
AC   DI-05492
AR   HYPX.
DE   An X-linked form of true hypoparathyroidism characterized by neonatal
DE   or infantile onset and absence of parathyroid glands. Clinical
DE   features are hypocalcemia, hyperphosphatemia, seizures, tetany and
DE   cramps.
DR   MIM; 307700; phenotype.
DR   MedGen; C0342344.
DR   MeSH; D007011.
//
ID   Hypoparathyroidism-retardation-dysmorphism syndrome.
AC   DI-01793
AR   HRDS.
DE   An autosomal recessive multisystem disorder characterized by
DE   hypoparathyroidism, intrauterine and postnatal growth retardation,
DE   psychomotor retardation, epilepsy, microcephaly, and facial
DE   dysmorphism.
SY   Sanjad-Sakati syndrome.
DR   MIM; 241410; phenotype.
DR   MedGen; C1855840.
DR   MeSH; D007011.
DR   MeSH; D008607.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Hypophosphatasia.
AC   DI-01796
AR   HOPS.
DE   A metabolic bone disease characterized by defective skeletal
DE   mineralization and biochemically by deficient activity of the tissue
DE   non-specific isoenzyme of alkaline phosphatase. Four forms are
DE   distinguished, depending on the age of onset: perinatal, infantile,
DE   childhood and adult type. The perinatal form is the most severe and is
DE   almost always fatal. The adult form is mild and characterized by
DE   recurrent fractures, osteomalacia, rickets, and loss of teeth. Some
DE   cases are asymptomatic, while some patients manifest dental features
DE   without skeletal manifestations (odontohypophosphatasia).
SY   HPPA.
SY   Hypophosphatasia, adult.
SY   Hypophosphatasia, mild.
DR   MIM; 146300; phenotype.
DR   MedGen; C0268413.
DR   MedGen; C1840322.
DR   MeSH; D007014.
//
ID   Hypophosphatasia, childhood.
AC   DI-03098
AR   HPPC.
DE   A bone disease characterized by defective skeletal mineralization and
DE   biochemically by deficient activity of the tissue non-specific
DE   isoenzyme of alkaline phosphatase.
DR   MIM; 241510; phenotype.
DR   MedGen; C0220743.
DR   MeSH; D007014.
//
ID   Hypophosphatasia, infantile.
AC   DI-03099
AR   HPPI.
DE   A severe bone disease characterized by defective skeletal
DE   mineralization and biochemically by deficient activity of the tissue
DE   non-specific isoenzyme of alkaline phosphatase. Three more or less
DE   distinct types of infantile hypophosphatasia can be identified: (1)
DE   type 1 with onset in utero or in early postnatal life, craniostenosis,
DE   severe skeletal abnormalities, hypercalcemia, and death in the first
DE   year or so of life; (2) type 2 with later, more gradual development of
DE   symptoms, moderately severe 'rachitic' skeletal changes and premature
DE   loss of teeth; (3) type 3 with no symptoms, the condition being
DE   determined on routine studies.
DR   MIM; 241500; phenotype.
DR   MedGen; C0268412.
DR   MedGen; C2673477.
DR   MeSH; D007014.
//
ID   Hypophosphatemic rickets, autosomal dominant.
AC   DI-01212
AR   ADHR.
DE   A disease characterized by isolated renal phosphate wasting,
DE   hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3
DE   (calcitriol) levels. Patients frequently present with bone pain,
DE   rickets, and tooth abscesses.
SY   Autosomal dominant hypophosphatemia.
SY   Autosomal dominant vitamin D-resistant rickets.
DR   MIM; 193100; phenotype.
DR   MedGen; C0342642.
DR   MeSH; D012279.
//
ID   Hypophosphatemic rickets, autosomal recessive, 1.
AC   DI-01243
AR   ARHR1.
DE   A hereditary form of hypophosphatemic rickets, a disorder of proximal
DE   renal tubule function that causes phosphate loss, hypophosphatemia and
DE   skeletal deformities, including rickets and osteomalacia unresponsive
DE   to vitamin D. Symptoms are bone pain, fractures and growth
DE   abnormalities.
SY   ARHP.
SY   Hypophosphatemia autosomal recessive.
DR   MIM; 241520; phenotype.
DR   MedGen; C0342643.
DR   MeSH; D012279.
//
ID   Hypophosphatemic rickets, autosomal recessive, 2.
AC   DI-02785
AR   ARHR2.
DE   A hereditary form of hypophosphatemic rickets, a disorder of proximal
DE   renal tubule function that causes phosphate loss, hypophosphatemia and
DE   skeletal deformities, including rickets and osteomalacia unresponsive
DE   to vitamin D. Symptoms are bone pain, fractures and growth
DE   abnormalities.
SY   Hypophosphatemia autosomal recessive.
DR   MIM; 613312; phenotype.
DR   MedGen; C2750078.
DR   MeSH; D012279.
//
ID   Hypophosphatemic rickets, X-linked dominant.
AC   DI-02447
AR   XLHR.
DE   A disorder characterized by impaired phosphate uptake in the kidney,
DE   which is likely to be caused by abnormal regulation of sodium
DE   phosphate cotransport in the proximal tubules. Clinical manifestations
DE   include skeletal deformities, growth failure, craniosynostosis,
DE   paravertebral calcifications, pseudofractures in lower extremities,
DE   and muscular hypotonia with onset in early childhood. X-linked
DE   hypophosphatemic rickets is the most common form of hypophosphatemia
DE   with an incidence of 1 in 20000.
SY   HPDR.
SY   HYP.
SY   Hypophosphatemia X-linked.
SY   Hypophosphatemic vitamin D-resistant rickets.
SY   Vitamin D-resistant rickets X-linked.
SY   XLH.
DR   MIM; 307800; phenotype.
DR   MedGen; C0733682.
DR   MeSH; D053098.
//
ID   Hypophosphatemic rickets, X-linked recessive.
AC   DI-00574
AR   XLRHR.
DE   A renal disease belonging to the 'Dent disease complex', a group of
DE   disorders characterized by proximal renal tubular defect,
DE   hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE   spectrum of phenotypic features is remarkably similar in the various
DE   disorders, except for differences in the severity of bone deformities
DE   and renal impairment. XLRH patients present with rickets or
DE   osteomalacia, hypophosphatemia due to decreased renal tubular
DE   phosphate reabsorption, hypercalciuria, and low molecular weight
DE   proteinuria. Patients develop nephrocalcinosis with progressive renal
DE   failure in adulthood. Female carriers may have asymptomatic
DE   hypercalciuria or hypophosphatemia only.
DR   MIM; 300554; phenotype.
DR   MedGen; C1845168.
DR   MeSH; D053098.
//
ID   Hypopigmentation, organomegaly, and delayed myelination and development.
AC   DI-05637
AR   HOD.
DE   An autosomal dominant pleiotropic syndrome characterized by skin and
DE   hair hypopigmentation, growth and developmental delay, organomegaly
DE   including enlarged liver, spleen and kidneys, delayed brain
DE   myelination and developmental deficit in motor skills. Skin and liver
DE   biopsies show cellular accumulation of large intracellular vacuoles.
DR   MIM; 618541; phenotype.
DR   MedGen; C3672352.
DR   MeSH; D000015.
//
ID   Hypoplasia or aplasia of tibia with polydactyly.
AC   DI-04241
AR   THYP.
DE   An autosomal dominant disease characterized by hypoplastic or absent
DE   tibia, and polydactyly.
SY   Hypoplastic or aplastic tibia with polydactyly.
SY   Tibia, hypoplasia or aplasia of, with polydactyly.
SY   Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia.
SY   Werner mesomelic syndrome.
SY   WMS.
DR   MIM; 188740; phenotype.
DR   MedGen; C1861099.
DR   MeSH; D004480.
DR   MeSH; D017689.
//
ID   Hypoplastic femurs and pelvis.
AC   DI-06232
AR   HYPOFP.
DE   An autosomal dominant disorder characterized by isolated bilateral
DE   hypoplasia of the femoral and pelvic bones.
DR   MIM; 619545; phenotype.
DR   MedGen; CN300513.
DR   MeSH; D001848.
//
ID   Hypoplastic left heart syndrome 1.
AC   DI-01799
AR   HLHS1.
DE   A syndrome due to defective development of the aorta proximal to the
DE   entrance of the ductus arteriosus, and hypoplasia of the left
DE   ventricle and mitral valve. As a result of the abnormal circulation,
DE   the ductus arteriosus and foramen ovale are patent and the right
DE   atrium, right ventricle, and pulmonary artery are enlarged.
DR   MIM; 241550; phenotype.
DR   MedGen; C0152101.
DR   MeSH; D018636.
//
ID   Hypoplastic left heart syndrome 2.
AC   DI-03342
AR   HLHS2.
DE   A syndrome due to defective development of the aorta proximal to the
DE   entrance of the ductus arteriosus, and hypoplasia of the left
DE   ventricle and mitral valve. As a result of the abnormal circulation,
DE   the ductus arteriosus and foramen ovale are patent and the right
DE   atrium, right ventricle, and pulmonary artery are enlarged.
DR   MIM; 614435; phenotype.
DR   MedGen; C3280795.
DR   MeSH; D018636.
//
ID   Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration.
AC   DI-01800
AR   HARP.
DE   Rare syndrome with many clinical similarities to PKAN.
DR   MIM; 607236; phenotype.
DR   MedGen; C1846582.
//
ID   Hypospadias 1, X-linked.
AC   DI-03834
AR   HYSP1.
DE   A common malformation in which the urethra opens on the ventral side
DE   of the penis, due to developmental arrest of urethral fusion. The
DE   opening can be located glandular, penile, or even more posterior in
DE   the scrotum or perineum. Hypospadias is a feature of several syndromic
DE   disorders, including the androgen insensitivity syndrome and Opitz
DE   syndrome.
DR   MIM; 300633; phenotype.
DR   MedGen; C2678098.
DR   MeSH; D007021.
//
ID   Hypospadias 2, X-linked.
AC   DI-02448
AR   HYSP2.
DE   A common malformation in which the urethra opens on the ventral side
DE   of the penis, due to developmental arrest of urethral fusion. The
DE   opening can be located glandular, penile, or even more posterior in
DE   the scrotum or perineum. Hypospadias is a feature of several syndromic
DE   disorders, including the androgen insensitivity syndrome and Opitz
DE   syndrome.
DR   MIM; 300758; phenotype.
DR   MedGen; C2677879.
DR   MeSH; D007021.
//
ID   Hypotaurinemic retinal degeneration and cardiomyopathy.
AC   DI-06123
AR   HTRDC.
DE   An autosomal recessive disorder characterized by low plasma taurine,
DE   childhood-onset progressive retinal degeneration, and cardiomyopathy.
DR   MIM; 145350; phenotype.
DR   MedGen; C1840385.
DR   MeSH; D009202.
DR   MeSH; D012162.
KW   KW-0122:Cardiomyopathy.
//
ID   Hypothyroidism, central, and testicular enlargement.
AC   DI-03629
AR   CHTE.
DE   A disorder characterized by insufficient thyroid gland stimulation by
DE   thyroid stimulating hormone (TSH), resulting from hypothalamic and/or
DE   pituitary dysfunction. CHTE patients have delayed testosterone
DE   increase at puberty with normal testosterone levels in adulthood,
DE   normal testicular volume in childhood and enlarged testicles in
DE   adulthood.
DR   MIM; 300888; phenotype.
DR   MedGen; C3550963.
DR   MedGen; CN163076.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 1.
AC   DI-00362
AR   CHNG1.
DE   A non-autoimmune condition characterized by resistance to thyroid-
DE   stimulating hormone (TSH) leading to increased levels of plasma TSH
DE   and low levels of thyroid hormone. It presents variable severity
DE   depending on the completeness of the defect. Most patients are
DE   euthyroid and asymptomatic, with a normal sized thyroid gland. Only a
DE   subset of patients develop hypothyroidism and present a hypoplastic
DE   thyroid gland.
SY   Congenital hypothyroidism due to TSH resistance.
SY   Hypothyroidism due to unresponsiveness to thyrotropin.
SY   Non-autoimmune hypothyroidism.
SY   RTSH.
SY   Thyroid-stimulating hormone resistance.
SY   Thyrotropin resistance.
SY   TSH resistance.
DR   MIM; 275200; phenotype.
DR   MedGen; C2940786.
DR   MedGen; C3493776.
DR   MedGen; CN074268.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 2.
AC   DI-00363
AR   CHNG2.
DE   A disease characterized by thyroid dysgenesis, the most frequent cause
DE   of congenital hypothyroidism, accounting for 85% of case. The thyroid
DE   gland can be completely absent (athyreosis), ectopically located
DE   and/or severely hypoplastic. Ectopic thyroid gland is the most
DE   frequent malformation, with thyroid tissue being found most often at
DE   the base of the tongue.
SY   Athyreotic hypothyroidism.
SY   Congenital hypothyroidism due to thyroid dysgenesis.
SY   RTSH.
SY   Thyroid dysgenesis.
SY   Thyroid-stimulating hormone resistance.
SY   Thyrotropin resistance.
DR   MIM; 218700; phenotype.
DR   MedGen; C0151516.
DR   MedGen; C0749420.
DR   MedGen; C1563716.
DR   MedGen; C1869118.
DR   MeSH; D050033.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 4.
AC   DI-06483
AR   CHNG4.
DE   A form of central hypothyroidism, a disorder characterized by
DE   insufficient stimulation by thyroid stimulating hormone of an
DE   otherwise normal thyroid gland. CHNG4 is an autosomal recessive form
DE   characterized by isolated thyrotropin deficiency that, if untreated,
DE   results in severe growth retardation and intellectual disability.
SY   Pituitary cretinism.
SY   Thyroid-stimulating hormone deficiency.
SY   Thyrotropin deficiency, isolated.
SY   TSH deficiency.
DR   MIM; 275100; phenotype.
DR   MedGen; C0271789.
DR   MedGen; C3665349.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 5.
AC   DI-01404
AR   CHNG5.
DE   A non-autoimmune condition characterized by resistance to thyroid-
DE   stimulating hormone (TSH) leading to increased levels of plasma TSH
DE   and low levels of thyroid hormone. CHNG5 presents variable severity
DE   depending on the completeness of the defect. Most patients are
DE   euthyroid and asymptomatic, with a normal sized thyroid gland. Only a
DE   subset of patients develop hypothyroidism and present a hypoplastic
DE   thyroid gland.
DR   MIM; 225250; phenotype.
DR   MedGen; C2673630.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 6.
AC   DI-03343
AR   CHNG6.
DE   A disease characterized by growth retardation, developmental
DE   retardation, skeletal dysplasia, borderline low thyroxine levels and
DE   high triiodothyronine levels. There is differential sensitivity to
DE   thyroid hormone action, with retention of hormone responsiveness in
DE   the hypothalamic pituitary axis and liver but skeletal,
DE   gastrointestinal, and myocardial resistance.
DR   MIM; 614450; phenotype.
DR   MedGen; C3280817.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 7.
AC   DI-05659
AR   CHNG7.
DE   A form of central hypothyroidism, a disorder characterized by sub-
DE   optimal thyroid hormone secretion, due to insufficient stimulation by
DE   thyrotropin of an otherwise normal thyroid gland. It may be caused by
DE   congenital or acquired disorders of the pituitary gland or
DE   hypothalamus. CHNG7 is a congenital, autosomal recessive form
DE   characterized by normal-to-low T4 and normal-to-high thyrotropin
DE   levels, and reduced or absent pituitary responsiveness to thyrotropin-
DE   releasing hormone. Patients may exhibit short stature, growth
DE   retardation, and delayed bone age, as well as lethargy or fatigue.
SY   Thyrotropin-releasing hormone resistance, generalized.
DR   MIM; 618573; phenotype.
DR   MedGen; CN262229.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 8.
AC   DI-05650
AR   CHNG8.
DE   A form of central hypothyroidism, a disorder characterized by sub-
DE   optimal thyroid hormone secretion, due to insufficient stimulation by
DE   the thyroid stimulating hormone of an otherwise normal thyroid gland.
DE   It may be caused by congenital or acquired disorders of the pituitary
DE   gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively
DE   mild form which may be accompanied by hearing loss in some patients.
DR   MIM; 301033; phenotype.
DR   MedGen; CN262333.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypothyroidism, congenital, non-goitrous, 9.
AC   DI-05651
AR   CHNG9.
DE   A form of central hypothyroidism, a disorder characterized by sub-
DE   optimal thyroid hormone secretion, due to insufficient stimulation by
DE   thyrotropin of an otherwise normal thyroid gland. It may be caused by
DE   congenital or acquired disorders of the pituitary gland or
DE   hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients
DE   have a small thyroid gland with low free T4 levels and inappropriately
DE   normal levels of thyrotropin.
DR   MIM; 301035; phenotype.
DR   MedGen; CN262332.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Hypotonia, ataxia, and delayed development syndrome.
AC   DI-04945
AR   HADDS.
DE   An autosomal dominant neurodevelopmental syndrome characterized by
DE   global developmental delay, moderate to severe intellectual
DE   disability, cerebellar ataxia, hypotonia, speech delay, variable
DE   dysmorphic features, and genitourinary abnormalities including
DE   vesicoureteric reflux.
DR   MIM; 617330; phenotype.
DR   MedGen; CN240505.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.
AC   DI-05219
AR   HADDTS.
DE   An autosomal dominant disorder characterized by delayed motor
DE   development, intellectual disability, failure to thrive, hypotonia,
DE   ataxia, and tooth enamel defects.
DR   MIM; 617915; phenotype.
DR   MedGen; CN895589.
DR   MeSH; D003744.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
AC   DI-05609
AR   HIDEA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, poor or absent speech, hypotonia, variable
DE   ocular movement and visual abnormalities, and respiratory
DE   difficulties. Disease onset is in infancy and death due to respiratory
DE   insufficiency may occur.
DR   MIM; 618493; phenotype.
DR   MedGen; CN260596.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Hypotonia, infantile, with psychomotor retardation.
AC   DI-04614
AR   IHPMR.
DE   An autosomal recessive disorder characterized by congenital axial
DE   hypotonia, weakness of the abducens nerve, psychomotor developmental
DE   delay with brain ventriculomegaly, variable thinning of corpus
DE   callosum and cardiac septal defects.
DR   MIM; 616816; phenotype.
DR   MedGen; CN235307.
DR   MeSH; D009123.
DR   MeSH; D011596.
//
ID   Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.
AC   DI-03902
AR   IHPRF1.
DE   A neurodegenerative disease characterized by variable degrees of
DE   hypotonia, speech impairment, intellectual disability, pyramidal
DE   signs, subtle facial dysmorphism, and chronic constipation. Some
DE   patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated
DE   axons and spheroid bodies in tissue biopsies.
SY   IHPRF.
SY   Infantile neuroaxonal neurodegeneration with facial dysmophism.
SY   INNFD.
DR   MIM; 615419; phenotype.
DR   MedGen; C3809454.
DR   MedGen; CN180084.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.
AC   DI-04645
AR   IHPRF2.
DE   An autosomal recessive, neurodegenerative disease characterized by
DE   severe truncal hypotonia since birth or early infancy, progressive
DE   peripheral spasticity, and profound psychomotor developmental delay.
DE   Some patients may have seizures.
DR   MIM; 616801; phenotype.
DR   MedGen; CN235179.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.
AC   DI-04694
AR   IHPRF3.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   profound developmental disability, intellectual disability and severe
DE   hypotonia. Many patients have seizures, and show brain atrophy,
DE   dysgenesis of the corpus callosum and white-matter changes on
DE   neuroimaging. Non-specific facial dysmorphism is noted in some
DE   individuals.
DR   MIM; 616900; phenotype.
DR   MedGen; CN236357.
DR   MeSH; D009422.
//
ID   Hypotonia-cystinuria syndrome.
AC   DI-01801
AR   HCS.
DE   Characterized generalized hypotonia at birth, nephrolithiasis, growth
DE   hormone deficiency, minor facial dysmorphism, failure to thrive,
DE   followed by hyperphagia and rapid weight gain in late childhood.
DR   MIM; 606407; phenotype.
DR   MedGen; C1848030.
//
ID   Hypotrichosis 1.
AC   DI-02718
AR   HYPT1.
DE   A rare form of non-syndromic hereditary hypotrichosis without
DE   characteristic hair shaft anomalies. Affected individuals typically
DE   show normal hair at birth, but hair loss and thinning of the hair
DE   shaft start during early childhood and progress with age. HYPT1
DE   inheritance is autosomal dominant.
SY   Generalized hypothricosis simplex.
SY   HHS.
SY   HTS.
SY   Hypotrichosis simplex.
SY   Hypotrichosis simplex hereditary.
DR   MIM; 605389; phenotype.
DR   MedGen; C1854310.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 11.
AC   DI-03644
AR   HYPT11.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT11 is an autosomal dominant form characterized by scanty or absent
DE   eyebrows and a highly variable degree of alopecia since birth, ranging
DE   from slight thinning of scalp and axillary hair to complete loss of
DE   scalp and body hair. Pubic hair remains mainly unaffected.
DR   MIM; 615059; phenotype.
DR   MedGen; C3554409.
DR   MedGen; CN165240.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 12.
AC   DI-04148
AR   HYPT12.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT12 patients have normal scalp hair density at birth. Hair loss
DE   begins during the first 6 months of life and gradually progresses to
DE   nearly complete loss of scalp hair. The remaining hairs grow slowly
DE   and are thin, sparse, dry, and fragile. Body hair, axillary and pubic
DE   hair, eyebrows and eyelashes are also sparse or absent. HYPT12
DE   inheritance is autosomal dominant.
DR   MIM; 615885; phenotype.
DR   MedGen; CN189719.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 13.
AC   DI-04158
AR   HYPT13.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT13 is an autosomal dominant form characterized by sparse woolly
DE   hair.
SY   Hypotrichosis with woolly hair.
DR   MIM; 615896; phenotype.
DR   MedGen; CN196687.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 14.
AC   DI-05448
AR   HYPT14.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT14 is an autosomal recessive form characterized by sparse to
DE   absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse
DE   eyelashes and body hair.
DR   MIM; 618275; phenotype.
DR   MedGen; CN258053.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 15.
AC   DI-06567
AR   HYPT15.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT15 is an autosomal recessive form characterized by sparse to
DE   absent scalp and body hair. Eyebrows and eyelashes may be sparse or
DE   absent as well.
DR   MIM; 620177; phenotype.
DR   MedGen; CN322667.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 2.
AC   DI-01802
AR   HYPT2.
DE   A condition characterized by the presence of less than the normal
DE   amount of hair. Affected individuals have normal hair in early
DE   childhood but experience progressive hair loss limited to the scalp
DE   beginning in the middle of the first decade and almost complete
DE   baldness by the third decade. Body hair, beard, eyebrows, axillary
DE   hair, teeth, and nails develop normally. HYPT2 inheritance is
DE   autosomal dominant.
SY   HTSS1.
SY   Hypotrichosis simplex of the scalp 1.
SY   Hypotrichosis Spanish type.
DR   MIM; 146520; phenotype.
DR   MedGen; C1840299.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 3.
AC   DI-03172
AR   HYPT3.
DE   A condition characterized by the presence of less than the normal
DE   amount of hair. Affected individuals have normal hair in early
DE   childhood but experience progressive hair loss limited to the scalp
DE   beginning in the middle of the first decade and almost complete
DE   baldness by the third decade. Body hair, beard, eyebrows, axillary
DE   hair, teeth, and nails develop normally. HYPT3 inheritance is
DE   autosomal dominant.
SY   HTSS2.
SY   Hypotrichosis simplex of the scalp 2.
DR   MIM; 613981; phenotype.
DR   MedGen; C3151432.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 4.
AC   DI-02514
AR   HYPT4.
DE   An autosomal dominant condition characterized by reduced amount of
DE   hair, alopecia, little or no eyebrows, eyelashes or body hair, and
DE   coarse, wiry, twisted hair in early childhood.
SY   Hypotrichosis Marie Unna 1.
SY   Marie Unna hereditary hypotrichosis type 1.
SY   MUHH1.
DR   MIM; 146550; phenotype.
DR   MedGen; C2750815.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 5.
AC   DI-05779
AR   HYPT5.
DE   A form of hypotrichosis, a condition characterized by the presence of
DE   less than the normal amount of hair and abnormal hair follicles and
DE   shafts, which are thin and atrophic. The extent of scalp and body hair
DE   involvement can be very variable, within as well as between families.
DE   HYPT5 is an autosomal dominant form characterized by little or no
DE   scalp hair at birth, wiry and irregular scalp hair in childhood, and
DE   sparse or no forehead and parietal hair at puberty. Eyebrows and
DE   eyelashes are thin, and pubic and axillary hair fails to develop.
DE   Scarring alopecia is modest, and vertex hair is normal.
SY   Marie Unna hereditary hypotrichosis 2.
SY   MUHH2.
DR   MIM; 612841; phenotype.
DR   MedGen; C2748535.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 6.
AC   DI-01912
AR   HYPT6.
DE   A condition characterized by the presence of less than the normal
DE   amount of hair and abnormal hair follicles and shafts, which are thin
DE   and atrophic. The disorder affects the trunk and extremities as well
DE   as the scalp, and the eyebrows and eyelashes may also be involved,
DE   whereas beard, pubic, and axillary hairs are largely spared. In
DE   addition, patients can develop hyperkeratotic follicular papules,
DE   erythema, and pruritus in affected areas. In some patients with
DE   congenital hypotrichosis, monilethrix-like hairs showing elliptical
DE   nodes have been observed. HYPT6 inheritance is autosomal recessive.
SY   HTL.
SY   Hypotrichosis localized autosomal recessive.
SY   Hypotrichosis localized autosomal recessive 1.
SY   LAH.
SY   LAH1.
SY   Monilethrix-like hypotrichosis.
DR   MIM; 607903; phenotype.
DR   MedGen; C1842839.
DR   MedGen; C3149410.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 7.
AC   DI-01177
AR   HYPT7.
DE   A condition characterized by the presence of less than the normal
DE   amount of hair. Affected individuals have sparse or absent scalp,
DE   axillary and body hair and sparse eyebrows and eyelashes. HYPT7
DE   inheritance is autosomal recessive.
SY   AH.
SY   Alopecia universalis congenita Mari type.
SY   Hypotrichosis autosomal recessive.
SY   Hypotrichosis localized autosomal recessive 2.
SY   LAH2.
SY   Total hypotrichosis Mari type.
DR   MIM; 604379; phenotype.
DR   MedGen; C1836672.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis 8.
AC   DI-01913
AR   HYPT8.
DE   A condition characterized by the presence of less than the normal
DE   amount of hair and abnormal hair follicles and shafts, which are thin
DE   and atrophic. The disorder affects the trunk and extremities as well
DE   as the scalp, and the eyebrows and eyelashes may also be involved,
DE   whereas beard, pubic, and axillary hairs are largely spared. In
DE   addition, patients can develop hyperkeratotic follicular papules,
DE   erythema, and pruritus in affected areas. In some patients with
DE   congenital hypotrichosis, monilethrix-like hairs showing elliptical
DE   nodes have been observed. HYPT8 inheritance is autosomal recessive.
SY   Hypotrichosis localized autosomal recessive 3.
SY   LAH3.
DR   MIM; 278150; phenotype.
DR   MedGen; C1848435.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis and recurrent skin vesicles.
AC   DI-02555
AR   HRSV.
DE   A disorder characterized by hypotrichosis and the appearance of
DE   recurrent skin vesicle formation. Affected individuals show sparse and
DE   fragile hair on scalp, as well as absent eyebrows and eyelashes.
DE   Vesicles filled with thin, watery fluid are observed on the scalp and
DE   skin of most of the body. Mucosal vesicles are absent.
DR   MIM; 613102; phenotype.
DR   MedGen; C2751292.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis congenital with juvenile macular dystrophy.
AC   DI-01803
AR   HJMD.
DE   A disorder characterized by congenital hypotrichosis, early hair loss,
DE   and severe degenerative changes of the retinal macula that culminate
DE   in blindness during the second to third decade of life.
SY   Hypotrichosis with cone-rod dystrophy.
DR   MIM; 601553; phenotype.
DR   MedGen; C1832162.
DR   MeSH; D007039.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis-lymphedema-telangiectasia syndrome.
AC   DI-01804
AR   HLTS.
DE   A syndrome characterized by absent eyebrows and eyelashes, lymphatic
DE   edemas of the inferior members or eyelids, and peripheral vein
DE   anomalies.
DR   MIM; 607823; phenotype.
DR   MedGen; C1843004.
DR   MeSH; D007039.
DR   MeSH; D008209.
DR   MeSH; D013684.
KW   KW-1063:Hypotrichosis.
//
ID   Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.
AC   DI-04465
AR   HLTRS.
DE   A syndrome characterized by sparse hair, lymphatic edemas, peripheral
DE   vein anomalies, and renal disease.
SY   Glomerulonephritis with sparse hair and telangiectases.
SY   Telangiectatic membranoproliferative glomerulonephritis.
DR   MIM; 137940; phenotype.
DR   MedGen; C1841989.
DR   MeSH; D005921.
DR   MeSH; D007039.
DR   MeSH; D008209.
DR   MeSH; D013684.
KW   KW-1063:Hypotrichosis.
//
ID   Hypouricemia renal 1.
AC   DI-02256
AR   RHUC1.
DE   A disorder characterized by impaired uric acid reabsorption at the
DE   apical membrane of proximal renal tubule cells, and high urinary urate
DE   excretion. Patients often appear asymptomatic, but may be subject to
DE   exercise-induced acute renal failure, chronic renal dysfunction and
DE   nephrolithiasis.
SY   Dalmatian hypouricemia.
SY   Renal hypouricemia.
DR   MIM; 220150; phenotype.
DR   MedGen; C0473219.
DR   MeSH; D015499.
//
ID   Hypouricemia renal 2.
AC   DI-03137
AR   RHUC2.
DE   A disorder characterized by impaired uric acid reabsorption at the
DE   apical membrane of proximal renal tubule cells, and high urinary urate
DE   excretion. Patients often appear asymptomatic, but may be subject to
DE   exercise-induced acute renal failure, chronic renal dysfunction and
DE   nephrolithiasis.
DR   MIM; 612076; phenotype.
DR   MedGen; C2677549.
DR   MedGen; C2677550.
DR   MedGen; C2677551.
DR   MeSH; D015499.
//
ID   Ichthyosis bullosa of Siemens.
AC   DI-00582
AR   IBS.
DE   A rare autosomal dominant skin disorder displaying a type of
DE   epidermolytic hyperkeratosis characterized by generalized erythema and
DE   extensive blistering from birth. Large, dark gray hyperkeratoses are
DE   observed in later weeks. The skin of IBS patients is unusually fragile
DE   and has a tendency to shed the outer layers of the epidermis,
DE   producing localized denuded areas (molting effect). IBS usually
DE   improves with age so that in most middle-aged patients the
DE   hyperkeratosis and keratotic lichenification is limited to the
DE   flexural folds of the major joints.
SY   Ichthyosis bullous type.
DR   MIM; 146800; phenotype.
DR   MedGen; C0432306.
DR   MedGen; C1838440.
DR   MeSH; D053560.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis histrix, Lambert type.
AC   DI-06555
AR   IHL.
DE   An autosomal dominant form of ichthyosis, a disorder of keratinization
DE   with abnormal differentiation and desquamation of the epidermis,
DE   resulting in abnormal skin scaling. IHL is characterized by normal
DE   skin at birth that develops striking spiny hyperkeratotic lesions
DE   within a few months. There is sparing of the face, palms, and soles,
DE   and affected individuals do not experience blistering.
SY   Ichthyosis hystrix gravior.
SY   Porcupine man.
DR   MIM; 146600; phenotype.
DR   MedGen; C0432311.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis hystrix, Curth-Macklin type.
AC   DI-00585
AR   IHCM.
DE   A genodermatosis with severe verrucous hyperkeratosis. Affected
DE   individuals manifest congenital verrucous black scale on the scalp,
DE   neck, and limbs with truncal erythema, palmoplantar keratoderma and
DE   keratoses on the lips, ears, nipples and buttocks.
DR   MIM; 146590; phenotype.
DR   MedGen; C1840296.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Ichthyosis hystrix-like with deafness syndrome.
AC   DI-00586
AR   HID syndrome.
DE   An autosomal dominant keratinizing disorder characterized by
DE   sensorineural deafness and spiky hyperkeratosis affecting the entire
DE   skin. HID syndrome is considered to differ from the similar KID
DE   syndrome in the extent and time of occurrence of skin symptoms and the
DE   severity of the associated keratitis.
DR   MIM; 602540; phenotype.
DR   MedGen; C1865234.
DR   MeSH; D006319.
DR   MeSH; D007057.
KW   KW-0209:Deafness.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis prematurity syndrome.
AC   DI-02593
AR   IPS.
DE   A keratinization disorder characterized by complications in the second
DE   trimester of pregnancy resulting from polyhydramnion, with premature
DE   birth of a child with thick caseous desquamating epidermis,
DE   respiratory complications and transient eosinophilia. After recovery
DE   during the first months of life, the symptoms are relatively benign
DE   and the patients suffer from a lifelong non-scaly ichthyosis with
DE   atopic manifestations.
SY   Ichthyosis congenita IV.
DR   MIM; 608649; phenotype.
DR   MedGen; C1837610.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis vulgaris.
AC   DI-00591
AR   VI.
DE   The most common form of ichthyosis inherited as an autosomal dominant
DE   trait. It is characterized by palmar hyperlinearity, keratosis pilaris
DE   and a fine scale that is most prominent over the lower abdomen, arms,
DE   and legs. Ichthyosis vulgaris is characterized histologically by
DE   absent or reduced keratohyalin granules in the epidermis and mild
DE   hyperkeratosis. The disease can be associated with frequent asthma,
DE   eczema or hay fever.
SY   Ichthyosis simplex.
DR   MIM; 146700; phenotype.
DR   MedGen; C0079584.
DR   MeSH; D016112.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis with confetti.
AC   DI-02981
AR   IWC.
DE   An autosomal dominant, rare skin condition characterized by slowly
DE   enlarging islands of normal skin surrounded by erythematous ichthyotic
DE   patches in a reticulated pattern. The condition starts in infancy as a
DE   lamellar ichthyosis, with small islands of normal skin resembling
DE   confetti appearing in late childhood and at puberty. Histopathologic
DE   findings include band-like parakeratosis, psoriasiform acanthosis, and
DE   vacuolization of keratinocytes with binucleated cells in the upper
DE   epidermis, sometimes associated with amyloid deposition in the dermis.
DE   Ultrastructural abnormalities include perinuclear shells formed from a
DE   network of fine filaments in the upper epidermis.
SY   Aarau disease.
SY   CRIE.
SY   Erythroderma, ichthyosiform, congenital reticular.
SY   Ichthyosis variegata.
SY   Reticular erythrokeratoderma.
DR   MIM; 609165; phenotype.
DR   MedGen; C1836681.
DR   MedGen; C3665704.
DR   MeSH; D016113.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis with erythrokeratoderma.
AC   DI-06761
AR   IEKD.
DE   An autosomal dominant genodermatosis characterized by early-onset
DE   ichthyosiform erythroderma with excessive skin scaling and peeling,
DE   and erythematous hyperkeratotic plaques. Lesions are present at birth
DE   or appear soon after.
DR   MIM; 620507; phenotype.
DR   MedGen; CN372962.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, annular epidermolytic, 1.
AC   DI-00580
AR   AEI1.
DE   A form of annular epidermolytic ichthyosis, an autosomal dominant skin
DE   disorder characterized by polycyclic, migratory erythematous and scaly
DE   plaques. AEI1 is characterized by the development of widespread
DE   erythematous blistering in the neonatal period or early childhood that
DE   subsides over time.
SY   AEI.
SY   Annular ichthyosis variant of BCIE.
SY   Cyclic ichthyosis with epidermolytic hyperkeratosis.
SY   Ichthyosis annular epidermolytic.
DR   MIM; 607602; phenotype.
DR   MedGen; C1843463.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, annular epidermolytic, 2.
AC   DI-06539
AR   AEI2.
DE   A form of annular epidermolytic ichthyosis, an autosomal dominant skin
DE   disorder characterized by polycyclic, migratory erythematous and scaly
DE   plaques. AEI2 patients manifest erythema and blistering of skin at
DE   birth that improves without scarring, as well as palmoplantar
DE   keratoderma.
DR   MIM; 620148; phenotype.
DR   MedGen; CN322561.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 1.
AC   DI-01230
AR   ARCI1.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Autosomal recessive congenital ichthyosis 1 with bathing suit distribution.
SY   Autosomal recessive congenital ichthyosis TGM1-related.
SY   Collodion fetus.
SY   Desquamation of newborn.
SY   Ichthyosis congenita.
SY   Ichthyosis congenita II.
SY   ICR2.
SY   Lamellar exfoliation of newborn.
SY   Lamellar ichthyosis 1.
SY   LI1.
SY   Non-erythrodermic ichthyosis.
SY   Self-healing collodion baby.
SY   SHCB.
DR   MIM; 242300; phenotype.
DR   MedGen; C3536797.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 10.
AC   DI-03671
AR   ARCI10.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
DR   MIM; 615024; phenotype.
DR   MedGen; C3554355.
DR   MedGen; CN164582.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 11.
AC   DI-04098
AR   ARCI11.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   ARIH.
SY   Autosomal recessive ichthyosis with hypotrichosis.
SY   Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis.
SY   IFAH.
DR   MIM; 602400; phenotype.
DR   MedGen; C1865595.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
KW   KW-1063:Hypotrichosis.
//
ID   Ichthyosis, congenital, autosomal recessive 12.
AC   DI-04921
AR   ARCI12.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
DR   MIM; 617320; phenotype.
DR   MedGen; CN240372.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 13.
AC   DI-05041
AR   ARCI13.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
DR   MIM; 617574; phenotype.
DR   MedGen; CN321864.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 14.
AC   DI-05040
AR   ARCI14.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
DR   MIM; 617571; phenotype.
DR   MedGen; CN317536.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 2.
AC   DI-00822
AR   ARCI2.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   CIE.
SY   Ichthyosiform erythroderma, congenital.
SY   Ichthyosiform erythroderma Brocq congenital non-bullous form.
SY   IECN1.
SY   NCIE1.
SY   Non-bullous congenital ichthyosiform erythroderma type 1.
SY   Self-healing collodion baby.
DR   MIM; 242100; phenotype.
DR   MedGen; C1855792.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 3.
AC   DI-03670
AR   ARCI3.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Lamellar ichthyosis 5.
SY   LI5.
SY   Self-healing collodion baby.
DR   MIM; 606545; phenotype.
DR   MedGen; C1847849.
DR   MedGen; C3539888.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 4A.
AC   DI-00588
AR   ARCI4A.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Ichthyosis congenita IIB.
SY   ICR2B.
SY   Lamellar ichthyosis 2.
SY   LI2.
DR   MIM; 601277; phenotype.
DR   MedGen; C1832550.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 4B.
AC   DI-00584
AR   ARCI4B.
DE   A rare, very severe form of congenital ichthyosis, in which the
DE   neonate is born with a thick covering of armor-like scales. The skin
DE   dries out to form hard diamond-shaped plaques separated by fissures,
DE   resembling 'armor plating'. The normal facial features are severely
DE   affected, with distortion of the lips (eclabion), eyelids (ectropion),
DE   ears, and nostrils. Affected babies are often born prematurely and
DE   rarely survive the perinatal period. Babies who survive into infancy
DE   and beyond develop skin changes resembling severe non-bullous
DE   congenital ichthyosiform erythroderma.
SY   Harlequin fetus.
SY   Harlequin ichthyosis.
SY   HI.
SY   Ichthyosis congenita harlequin fetus type.
DR   MIM; 242500; phenotype.
DR   MedGen; C0239849.
DR   MedGen; C0598226.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 5.
AC   DI-00589
AR   ARCI5.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Ichthyosis congenita III.
SY   Lamellar ichthyosis 3.
SY   LI3.
SY   NNCI.
SY   Non-lamellar and non-erythrodermic congenital autosomal recessive ichthyosis.
DR   MIM; 604777; phenotype.
DR   MedGen; C1858133.
DR   MedGen; C1858142.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 6.
AC   DI-00583
AR   ARCI6.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Ichthyosis, congenital, autosomal recessive, ichthyin-related.
SY   Ichthyosis, congenital, autosomal recessive, NIPAL4-related.
SY   Ichthyosis congenital autosomal recessive.
DR   MIM; 612281; phenotype.
DR   MedGen; C2677065.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 8.
AC   DI-03085
AR   ARCI8.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
SY   Lamellar ichthyosis 4.
SY   Late-onset lamellar ichthyosis.
SY   LI4.
DR   MIM; 613943; phenotype.
DR   MedGen; C3151377.
DR   MedGen; C3553029.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, congenital, autosomal recessive 9.
AC   DI-03828
AR   ARCI9.
DE   A form of autosomal recessive congenital ichthyosis, a disorder of
DE   keratinization with abnormal differentiation and desquamation of the
DE   epidermis, resulting in abnormal skin scaling over the whole body. The
DE   main skin phenotypes are lamellar ichthyosis (LI) and non-bullous
DE   congenital ichthyosiform erythroderma (NCIE), although phenotypic
DE   overlap within the same patient or among patients from the same family
DE   can occur. Lamellar ichthyosis is a condition often associated with an
DE   embedment in a collodion-like membrane at birth; skin scales later
DE   develop, covering the entire body surface. Non-bullous congenital
DE   ichthyosiform erythroderma characterized by fine whitish scaling on an
DE   erythrodermal background; larger brownish scales are present on the
DE   buttocks, neck and legs.
DR   MIM; 615023; phenotype.
DR   MedGen; C3554349.
DR   MedGen; CN164581.
DR   MeSH; D017490.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, lamellar, autosomal dominant.
AC   DI-05901
AR   ADLI.
DE   An autosomal dominant form of ichthyosis, a disorder of keratinization
DE   with abnormal differentiation and desquamation of the epidermis,
DE   resulting in abnormal skin scaling. ADLI is characterized by onset at
DE   birth or within the first months of life, skin scaling on the entire
DE   body with relative sparing of face, anterior chest, and abdomen, and
DE   palmoplantar keratoderma. Patients may manifest mild erythema and
DE   moderate pruritus.
SY   Lamellar ichthyosis, autosomal dominant.
DR   MIM; 146750; phenotype.
DR   MedGen; C0432304.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis, spastic quadriplegia, and impaired intellectual development.
AC   DI-03376
AR   ISQMR.
DE   A severe autosomal recessive disorder characterized by ichthyosis
DE   apparent from birth, profound psychomotor retardation with essentially
DE   no development, spastic quadriplegia, and seizures.
DR   MIM; 614457; phenotype.
DR   MedGen; C3280856.
DR   MeSH; D007057.
DR   MeSH; D008607.
DR   MeSH; D010264.
KW   KW-0977:Ichthyosis.
KW   KW-0991:Intellectual disability.
//
ID   Ichthyosis, X-linked.
AC   DI-00592
AR   IXL.
DE   A keratinization disorder manifesting with mild erythroderma and
DE   generalized exfoliation of the skin within a few weeks after birth.
DE   Affected boys later develop large, polygonal, dark brown scales,
DE   especially on the neck, extremities, trunk, and buttocks.
SY   Placental steroid sulfatase deficiency.
SY   Steroid sulfatase deficiency.
DR   MIM; 308100; phenotype.
DR   MedGen; C0079588.
DR   MedGen; C2677713.
DR   MedGen; C2717836.
DR   MedGen; C2720163.
DR   MeSH; D016114.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyosis-sclerosing cholangitis neonatal syndrome.
AC   DI-00590
AR   NISCH.
DE   A rare autosomal recessive complex ichthyosis syndrome characterized
DE   by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis,
DE   sclerosing cholangitis and leukocyte vacuolization.
SY   Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis.
SY   ILVASC.
SY   NISCH syndrome.
DR   MIM; 607626; phenotype.
DR   MedGen; C1843355.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.
AC   DI-05630
AR   IKSHD.
DE   An autosomal dominant disease characterized by ichthyosis due to
DE   epidermal hyperproliferation and increased keratinisation,
DE   hypomyelination of the central white matter, spastic paraplegia,
DE   central nystagmus, optic atrophy, reduction of peripheral vision and
DE   visual acuity, and dysmorphic facial features.
DR   MIM; 618527; phenotype.
DR   MedGen; CN262178.
DR   MeSH; D007057.
DR   MeSH; D009422.
KW   KW-0977:Ichthyosis.
//
ID   Idiopathic scoliosis 3.
AC   DI-02881
AR   IS3.
DE   An abnormality of the vertebral column in which patients develop
DE   lateral curvature of the spine of at least 10 degrees.
DR   MIM; 608765; phenotype.
DR   MedGen; C1837461.
DR   MeSH; D012600.
//
ID   IFAP syndrome 1, with or without Bresheck syndrome.
AC   DI-02540
AR   IFAP1.
DE   An X-linked syndrome characterized by a peculiar triad of follicular
DE   ichthyosis, total or subtotal atrichia, and photophobia of varying
DE   degree. Histopathologically, the epidermal granular layer is generally
DE   well-preserved or thickened at the infundibulum. Hair follicles are
DE   poorly developed and tend to be surrounded by an inflammatory
DE   infiltrate. A subgroup of patients is described with lamellar rather
DE   than follicular ichthyosis. Non-consistent features may include growth
DE   and psychomotor retardation, aganglionic megacolon, seizures and nail
DE   dystrophy.
SY   Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia.
SY   Ichthyosis follicularis-atrichia-photophobia syndrome.
DR   MIM; 308205; phenotype.
DR   MedGen; C1839988.
DR   MedGen; C3275579.
DR   MeSH; D000505.
DR   MeSH; D007057.
DR   MeSH; D020795.
KW   KW-0977:Ichthyosis.
//
ID   IFAP syndrome 2.
AC   DI-05917
AR   IFAP2.
DE   An autosomal dominant form of IFAP syndrome, a disease characterized
DE   by a peculiar triad of follicular ichthyosis, total or subtotal
DE   atrichia, and photophobia of varying degree. IFAP2 patients manifest
DE   ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic
DE   plaques, sparse to no body hair, and photophobia with punctate corneal
DE   epithelial defects, corneal pannus, and complicated cataract.
DE   Ultrastructural hair analysis shows trichorrhexis nodosa.
DR   MIM; 619016; phenotype.
DR   MedGen; CN283356.
DR   MeSH; D000505.
DR   MeSH; D007057.
DR   MeSH; D020795.
KW   KW-0977:Ichthyosis.
//
ID   IgA nephropathy.
AC   DI-01809
AR   IgAN.
DE   Most common primary glomerulonephritis, which is partly due to
DE   aberrant or incomplete galactosylation of IgA1 molecules.
DR   MIM; 161950; phenotype.
DR   MedGen; C0017661.
DR   MedGen; C3160719.
//
ID   IgA nephropathy 3.
AC   DI-04653
AR   IGAN3.
DE   A form of IgA nephropathy, a common primary glomerulonephritis
DE   characterized by glomerular sclerosis, interstitial fibrosis, and
DE   mesangial glomerular deposits of immunoglobulin A and immunoglobulin G
DE   visible on renal biopsies. IgA nephropathy is associated with renal
DE   insufficiency that can progress to end-stage renal disease.
DE   Proteinuria and hematuria are characteristic clinical presentations.
DR   MIM; 616818; phenotype.
DR   MedGen; CN235210.
DR   MeSH; D005922.
//
ID   Imagawa-Matsumoto syndrome.
AC   DI-05768
AR   IMMAS.
DE   An autosomal dominant syndrome characterized by generalized
DE   overgrowth, dysmorphic features, musculoskeletal abnormalities,
DE   developmental delay and intellectual disability. Some patients have
DE   genitourinary and structural brain abnormalities.
DR   MIM; 618786; phenotype.
DR   MedGen; CN263292.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Imerslund-Grasbeck syndrome 1.
AC   DI-02246
AR   IGS1.
DE   A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive
DE   disorder characterized by vitamin B12 deficiency commonly resulting in
DE   megaloblastic anemia, which is responsive to parenteral vitamin B12
DE   therapy and appears in infancy or early childhood. Clinical
DE   manifestations include failure to thrive, infections and neurological
DE   damage. Mild proteinuria, with no signs of kidney disease, is present
DE   in about half of the patients.
SY   Defect of enterocyte intrinsic factor receptor.
SY   Enterocyte cobalamin malabsorption.
SY   Megaloblastic anemia, Finnish type.
SY   Megaloblastic anemia 1.
SY   MGA1.
SY   Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria.
DR   MIM; 261100; phenotype.
DR   MedGen; C1306856.
DR   MeSH; D000749.
//
ID   Imerslund-Grasbeck syndrome 2.
AC   DI-05840
AR   IGS2.
DE   A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive
DE   disorder characterized by vitamin B12 deficiency commonly resulting in
DE   megaloblastic anemia, which is responsive to parenteral vitamin B12
DE   therapy and appears in infancy or early childhood. Clinical
DE   manifestations include failure to thrive, infections and neurological
DE   damage. Mild proteinuria, with no signs of kidney disease, is present
DE   in about half of the patients.
SY   Megaloblastic anemia, Norwegian type.
DR   MIM; 618882; phenotype.
DR   MedGen; CN280935.
DR   MeSH; D000749.
//
ID   Iminoglycinuria.
AC   DI-02940
AR   IG.
DE   A disorder of renal tubular reabsorption of glycine and imino acids
DE   (proline and hydroxyproline), marked by excessive levels of all three
DE   substances in the urine.
DR   MIM; 242600; phenotype.
DR   MedGen; C0268654.
DR   MeSH; D000608.
//
ID   Immune dysregulation and systemic hyperinflammation syndrome.
AC   DI-05904
AR   IMDYSHI.
DE   An autosomal recessive disorder characterized by systemic
DE   hyperinflammation in the absence of an infectious agent or autoimmune
DE   trigger. Features include lymphadenopathy, hepatosplenomegaly,
DE   recurrent fever, and laboratory evidence of immune dysregulation with
DE   abnormal immune cell populations and increased serum levels of
DE   inflammatory cytokines.
SY   FHL6.
SY   Hemophagocytic lymphohistiocytosis, familial, 6.
DR   MIM; 618998; phenotype.
DR   MedGen; CN283343.
DR   MeSH; D051359.
//
ID   Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation.
AC   DI-04302
AR   IDAIL.
DE   An autosomal dominant primary immunodeficiency characterized by severe
DE   autoimmunity, infiltration of non-lymphoid organs, such as the
DE   intestine, lungs and brain, by hyperactive T cells and B cells,
DE   autoimmune cytopenias, and hypogammaglobulinemia in early childhood.
SY   ALPS5.
SY   Autoimmune lymphoproliferative syndrome 5.
SY   Autoimmune lymphoproliferative syndrome type V.
DR   MIM; 616100; phenotype.
DR   MedGen; CN221537.
DR   MeSH; D008232.
//
ID   Immune dysregulation, autoimmunity, and autoinflammation.
AC   DI-06764
AR   IDAA.
DE   An autosomal dominant disorder characterized by anemia and
DE   thrombocytopenia associated with circulating autoantibodies, positive
DE   Coombs test, immune dysregulation, and increased levels of
DE   proinflammatory cytokines.
DR   MIM; 620514; phenotype.
DR   MedGen; CN375536.
DR   MeSH; D007154.
//
ID   Immunodeficiency 10.
AC   DI-02551
AR   IMD10.
DE   An immune disorder characterized by recurrent infections, impaired
DE   activation and proliferative response of T-cells, decreased T-cell
DE   production of cytokines, lymphadenopathy, and normal lymphocytes
DE   counts and serum immunoglobulin levels. Additional features include
DE   thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris
DE   hypoplasia, hepatosplenomegaly and defective enamel dentition.
SY   Immune dysfunction with T-cell inactivation due to calcium entry defect 2.
SY   STIM1 deficiency.
DR   MIM; 612783; phenotype.
DR   MedGen; C2748557.
DR   MeSH; D007153.
//
ID   Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia.
AC   DI-06438
AR   IMD100.
DE   An autosomal dominant disorder characterized by onset of respiratory
DE   insufficiency due to pulmonary alveolar proteinosis in the first
DE   months of life. Disease development appears to be influenced or
DE   triggered by viral infection. Patients also have
DE   hypogammaglobulinemia, leukocytosis, and splenomegaly.
SY   PAPHG.
SY   Pulmonary alveolar proteinosis with hypogammaglobulinemia.
DR   MIM; 618042; phenotype.
DR   MedGen; C4747984.
DR   MeSH; D007153.
DR   MeSH; D011649.
//
ID   Immunodeficiency 101, varicella zoster virus-specific.
AC   DI-06422
AR   IMD101.
DE   An autosomal dominant immunologic disorder characterized by
DE   reactivation of varicella zoster virus (VZV) infection in adulthood
DE   after primary childhood infection with VZV. The viral reactivation
DE   manifests as central nervous system vasculitis with stroke-like
DE   episodes and lacunar infarcts on brain imaging. Features include
DE   headache, hemiparesis, impaired balance, and other neurologic signs.
DR   MIM; 619872; phenotype.
DR   MedGen; CN312176.
DR   MeSH; D007153.
//
ID   Immunodeficiency 102.
AC   DI-06439
AR   IMD102.
DE   An X-linked recessive disorder characterized by recurrent
DE   sinopulmonary, cutaneous and mucosal infections, and refractory
DE   autoimmune cytopenias that appear in early childhood. Affected
DE   individuals have bacterial, viral, and fungal infections, as well as
DE   hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK
DE   cells. The disorder may also manifest as a hyperinflammatory state
DE   with immune dysregulation.
DR   MIM; 301082; phenotype.
DR   MedGen; CN313131.
DR   MeSH; D007153.
//
ID   Immunodeficiency 103, susceptibility to fungal infections.
AC   DI-02578
AR   IMD103.
DE   An autosomal recessive primary immunodeficiency disorder with altered
DE   immune responses and impaired clearance of fungal infections,
DE   selective against Candida. It is characterized by persistent and/or
DE   recurrent infections of the skin, nails and mucous membranes caused by
DE   organisms of the genus Candida, mainly Candida albicans.
SY   CANDF2.
SY   Candidiasis, familial, 2.
SY   CARD9 immunodeficiency.
SY   Familial chronic mucocutaneous candidiasis autosomal recessive.
DR   MIM; 212050; phenotype.
DR   MedGen; C1859353.
DR   MeSH; D002178.
//
ID   Immunodeficiency 104.
AC   DI-01018
AR   IMD104.
DE   A form of severe combined immunodeficiency (SCID), a genetically and
DE   clinically heterogeneous group of rare congenital disorders
DE   characterized by impairment of both humoral and cell-mediated
DE   immunity, leukopenia, and low or absent antibody levels. Patients
DE   present in infancy recurrent, persistent infections by opportunistic
DE   organisms. The common characteristic of all types of SCID is absence
DE   of T-cell-mediated cellular immunity due to a defect in T-cell
DE   development.
SY   SCIDBNK.
SY   Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive.
SY   Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive.
DR   MIM; 608971; phenotype.
DR   MedGen; C1837028.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Immunodeficiency 105.
AC   DI-06464
AR   IMD105.
DE   An autosomal recessive disorder characterized by recurrent infections
DE   in early infancy, decreased or absent numbers of non-functional T
DE   cells, normal or increased levels of B cells, hypogammaglobulinemia,
DE   and normal or low NK cells. Clinical manifestations may include
DE   pneumonia, dermatitis, and lymphadenopathy.
SY   SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.
SY   Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.
DR   MIM; 619924; phenotype.
DR   MedGen; CN315595.
DR   MeSH; D007153.
//
ID   Immunodeficiency 106, susceptibility to viral infections.
AC   DI-06465
AR   IMD106.
DE   An autosomal recessive immunologic disorder characterized by increased
DE   susceptibility to viral infections beginning in infancy or early
DE   childhood. IMD106 affected individuals may demonstrate adverse
DE   reactions to vaccination with live attenuated viral vaccines, most
DE   notably measles, mumps and rubella (MMR) and yellow fever vaccines. A
DE   subset of IMD106 patients develop severe reactions, including
DE   excessive hyperinflammatory response, encephalopathy, acute
DE   respiratory distress syndrome, and multiorgan failure. IMD106 may also
DE   predispose to severe respiratory infection with SARS-CoV-2.
SY   IFNAR1 deficiency.
DR   MIM; 619935; phenotype.
DR   MedGen; CN315600.
DR   MeSH; D007153.
//
ID   Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection.
AC   DI-06476
AR   IMD107.
DE   An autosomal dominant immunologic disorder characterized by increased
DE   susceptibility to invasive and severe Staphylococcus aureus infection,
DE   causing life-threatening skin or pulmonary necrosis. Clinically,
DE   penetrance is incomplete and expressivity is variable.
DR   MIM; 619986; phenotype.
DR   MedGen; CN315939.
DR   MeSH; D007153.
//
ID   Immunodeficiency 108 with autoinflammation.
AC   DI-06512
AR   IMD108.
DE   An autosomal recessive disorder characterized by autoinflammation and
DE   immune impairment of neutrophils, manifesting around adolescence.
DE   Affected individuals have recurrent episodes of abdominal pain
DE   associated with fever and elevated inflammatory markers. Additional
DE   features include recurrent infections, particularly of the skin and
DE   nails, poor wound healing, and mild bleeding tendencies.
SY   Pelger-Huet-like anomaly and episodic fever with abdominal pain.
DR   MIM; 260570; phenotype.
DR   MedGen; C1850054.
DR   MeSH; D007153.
//
ID   Immunodeficiency 109 with lymphoproliferation.
AC   DI-06628
AR   IMD109.
DE   An autosomal recessive primary immune disorder characterized by
DE   recurrent sinopulmonary infections, susceptibility to infection with
DE   Epstein-Barr virus (EBV), persistent EBV viremia, and EBV-induced
DE   lymphoproliferation or B-cell lymphoma.
DR   MIM; 620282; phenotype.
DR   MedGen; CN323711.
DR   MeSH; D007153.
//
ID   Immunodeficiency 11 A.
AC   DI-03761
AR   IMD11A.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   normal numbers of T and B-lymphocytes, but defective intracellular
DE   signaling. There is a block in B-cell differentiation with increased
DE   numbers of transitional B-cells and hypogammaglobulinemia, as well as
DE   decreased numbers of regulatory T-cells and defects in T-cell
DE   function.
SY   CARD11 immunodeficiency.
SY   IMD11.
SY   Immunodeficiency 11.
DR   MIM; 615206; phenotype.
DR   MedGen; C3554686.
DR   MedGen; CN169370.
DR   MeSH; D007153.
//
ID   Immunodeficiency 110 with lymphoproliferation.
AC   DI-03600
AR   IMD110.
DE   An autosomal recessive, primary T-cell immunodeficiency syndrome
DE   characterized by progressive loss of naive T-cells, recurrent
DE   bacterial, viral, and fungal infections, warts, and abscesses,
DE   autoimmune manifestations, and cardiac malformations, including atrial
DE   septal defect. Patients are at risk for developing lymphoproliferative
DE   disorders or lymphoma.
SY   MST1 deficiency.
SY   STK4 deficiency.
SY   T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations.
SY   TIIAC.
DR   MIM; 614868; phenotype.
DR   MedGen; C3553943.
DR   MedGen; CN158716.
DR   MeSH; D007153.
//
ID   Immunodeficiency 112.
AC   DI-06724
AR   IMD112.
DE   An autosomal recessive, primary immunologic disorder characterized by
DE   variable abnormalities affecting lymphoid immunity, including
DE   hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and
DE   recurrent bacterial, viral, and fungal infections.
DR   MIM; 620449; phenotype.
DR   MedGen; CN372451.
DR   MeSH; D007153.
//
ID   Immunodeficiency 11B with atopic dermatitis.
AC   DI-05074
AR   IMD11B.
DE   An autosomal dominant disorder of immune dysfunction characterized by
DE   onset of moderate to severe atopic dermatitis in early childhood. Some
DE   patients may have recurrent infections and other variable immune
DE   abnormalities. Laboratory studies show defects in T-cell activation,
DE   increased IgE, and eosinophilia.
SY   Atopic dermatitis, elevated IgE, and eosinophilia.
DR   MIM; 617638; phenotype.
DR   MedGen; CN417134.
DR   MeSH; D007153.
//
ID   Immunodeficiency 12.
AC   DI-03911
AR   IMD12.
DE   A primary immunodeficiency characterized by onset in infancy of
DE   recurrent bacterial and candidal infections resulting in
DE   bronchiectasis and growth delay. Manifestations include mastoiditis,
DE   aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis,
DE   duodenitis, and meningitis. Levels of absolute lymphocytes and serum
DE   immunoglobulins are normal, but specific antibody titers are low
DE   despite immunization, and T-cells show impaired proliferative
DE   responses to mitogens.
DR   MIM; 615468; phenotype.
DR   MedGen; C3809583.
DR   MedGen; CN180192.
DR   MeSH; D007153.
//
ID   Immunodeficiency 13.
AC   DI-03941
AR   IMD13.
DE   A rare and heterogeneous syndrome defined by a reproducible reduction
DE   in the CD4 T-lymphocyte count (less than 300 cells per microliter or
DE   less than 20% of total T-cells) in the absence of HIV infection or
DE   other known causes of immunodeficiency. IMD13 predisposes to
DE   infections and malignancy.
SY   ICL.
SY   Idiopathic CD4 lymphopenia.
DR   MIM; 615518; phenotype.
DR   MedGen; C3809768.
DR   MedGen; CN181336.
DR   MeSH; D007153.
//
ID   Immunodeficiency 14A with lymphoproliferation, autosomal dominant.
AC   DI-03995
AR   IMD14A.
DE   A disorder characterized by recurrent respiratory infections,
DE   progressive airway damage, lymphopenia, increased circulating
DE   transitional B cells, increased immunoglobulin M, reduced
DE   immunoglobulin G2 levels in serum, and impaired vaccine responses.
SY   Activated PI3K-delta immunodeficiency syndrome.
SY   Activated PI3K-delta syndrome.
SY   APDS.
SY   p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.
SY   PASLI.
DR   MIM; 615513; phenotype.
DR   MedGen; C3714976.
DR   MedGen; CN185290.
DR   MeSH; D007153.
//
ID   Immunodeficiency 14B, autosomal recessive.
AC   DI-06085
AR   IMD14B.
DE   An autosomal recessive, primary immunodeficiency characterized by
DE   recurrent sinopulmonary infections apparent in early childhood. Some
DE   patients may develop inflammatory bowel disease or osteomyelitis.
DE   Immunological features include hypogammaglobulinemia, decreased levels
DE   of B cells, and evidence of impaired immune-mediated cytotoxicity and
DE   defective T-cell function.
DR   MIM; 619281; phenotype.
DR   MedGen; CN296456.
DR   MeSH; D007153.
//
ID   Immunodeficiency 15A.
AC   DI-05387
AR   IMD15A.
DE   An autosomal dominant primary immunodeficiency disorder characterized
DE   by lymphopenia, inflammation and immune activation of both CD4+ and
DE   CD8+ T cells. Patients suffer from recurrent respiratory tract
DE   infections, oral candidiasis, and otitis media.
DR   MIM; 618204; phenotype.
DR   MedGen; CN257488.
DR   MeSH; D016511.
//
ID   Immunodeficiency 15B.
AC   DI-04000
AR   IMD15B.
DE   An autosomal recessive primary immunodeficiency disorder characterized
DE   by onset in infancy of life-threatening bacterial, fungal, and viral
DE   infections and failure to thrive. Laboratory studies show hypo- or
DE   agammaglobulinemia with relatively normal numbers of B and T-cells,
DE   and impaired differentiation and activation of immune cells.
DR   MIM; 615592; phenotype.
DR   MedGen; C3810043.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Immunodeficiency 16.
AC   DI-04001
AR   IMD16.
DE   An autosomal recessive primary immunodeficiency associated with
DE   classic Kaposi sarcoma of childhood and poor T-cell recall immune
DE   responses due to complete functional OX40 deficiency.
SY   OX40 deficiency.
DR   MIM; 615593; phenotype.
DR   MedGen; C3810053.
DR   MedGen; CN183733.
DR   MeSH; D007153.
//
ID   Immunodeficiency 17.
AC   DI-04033
AR   IMD17.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   highly variable clinical severity. Some patients have onset of severe
DE   recurrent infections in early infancy that may be lethal, whereas
DE   others may be only mildly affected or essentially asymptomatic into
DE   young adulthood. More severely affected patients may have evidence of
DE   autoimmune disease or enteropathy. The immunologic pattern is similar
DE   among patients, showing partial T-cell lymphopenia, decreased amounts
DE   of the CD3 complex, and impaired proliferative responses to T-cell
DE   receptor dependent stimuli. The phenotype in some patients is
DE   reminiscent of severe combined immunodeficiency.
SY   CD3-gamma deficiency.
SY   SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive.
DR   MIM; 615607; phenotype.
DR   MedGen; C3810107.
DR   MedGen; CN184222.
DR   MeSH; D007153.
//
ID   Immunodeficiency 18.
AC   DI-04034
AR   IMD18.
DE   An autosomal recessive primary immunodeficiency characterized by onset
DE   in infancy or early childhood of recurrent infections. The severity is
DE   variable, encompassing both a mild immunodeficiency and severe
DE   combined immunodeficiency (SCID), resulting in early death without
DE   bone marrow transplantation in some patients. Immunologic work-up of
DE   the IMD18 SCID patients shows a T cell-negative, B cell-positive,
DE   natural killer (NK) cell-positive phenotype, whereas T-cell
DE   development is not impaired in the mild form of IMD18.
SY   CD3-epsilon deficiency.
SY   Immunodeficiency 18, SCID variant.
SY   Immunodeficiency 18, severe combined immunodeficiency variant.
DR   MIM; 615615; phenotype.
DR   MedGen; C3810127.
DR   MedGen; CN184330.
DR   MedGen; CN184333.
DR   MeSH; D007153.
//
ID   Immunodeficiency 19.
AC   DI-04027
AR   IMD19.
DE   An autosomal recessive form of severe combined immunodeficiency
DE   characterized by onset in early infancy of recurrent bacterial, viral,
DE   and fungal infections. Patients usually have chronic diarrhea,
DE   recurrent respiratory infections, and failure to thrive. Immunologic
DE   work-up shows a T-cell negative, B-cell positive, NK-cell positive
DE   phenotype.
SY   CD3-delta deficiency.
SY   T cell-negative, B cell-positive, NK cell-positive SCID.
SY   T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency.
DR   MIM; 615617; phenotype.
DR   MedGen; C3810147.
DR   MedGen; CN184331.
DR   MeSH; D007153.
KW   KW-0705:SCID.
//
ID   Immunodeficiency 20.
AC   DI-04050
AR   IMD20.
DE   A rare autosomal recessive primary immunodeficiency characterized by
DE   functional deficiency of NK cells. Affected individuals typically
DE   present with severe herpes viral infections, particularly Epstein Barr
DE   virus (EBV), and human papillomavirus (HPV).
DR   MIM; 615707; phenotype.
DR   MedGen; C3810342.
DR   MedGen; CN185376.
DR   MeSH; D007153.
//
ID   Immunodeficiency 21.
AC   DI-03212
AR   IMD21.
DE   An immunodeficiency disease characterized by profoundly decreased or
DE   absent monocytes, B-lymphocytes, natural killer lymphocytes, and
DE   circulating and tissue dendritic cells, with little or no effect on T-
DE   cell numbers. Clinical features of DCML include susceptibility to
DE   disseminated non-tuberculous mycobacterial infections, papillomavirus
DE   infections, opportunistic fungal infections, and pulmonary alveolar
DE   proteinosis. Bone marrow hypocellularity and dysplasia of myeloid,
DE   erythroid, and megakaryocytic lineages are present in most patients,
DE   as are karyotypic abnormalities, including monosomy 7 and trisomy 8.
DE   This syndrome links susceptibility to mycobacterial, viral, and fungal
DE   infections with malignancy and can be transmitted in an autosomal
DE   dominant pattern.
SY   Combined immunodeficiency with susceptibility to mycobacterial viral and fungal infections.
SY   DCML.
SY   Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency.
SY   Monocytopenia and mycobacterial infection syndrome.
SY   Monocytopenia with susceptibility to mycobacterial fungal and papillomavirus infections and myelodysplasia.
SY   MONOMAC.
DR   MIM; 614172; phenotype.
DR   MedGen; C3280030.
DR   MeSH; D008231.
//
ID   Immunodeficiency 22.
AC   DI-04079
AR   IMD22.
DE   A primary immunodeficiency characterized by T-cell dysfunction.
DE   Affected individuals present with lymphopenia, recurrent infections,
DE   severe diarrhea, and failure to thrive.
DR   MIM; 615758; phenotype.
DR   MedGen; CN186319.
DR   MeSH; D007153.
//
ID   Immunodeficiency 23.
AC   DI-04117
AR   IMD23.
DE   A primary immunodeficiency syndrome characterized by recurrent
DE   respiratory and skin infections beginning in early childhood, severe
DE   atopy, increased serum IgE, and developmental delay or cognitive
DE   impairment of varying severity.
SY   Immunodeficiency-vasculitis-myoclonus syndrome.
SY   Immunodeficiency with hyper IgE and cognitive impairment.
SY   IVMS.
DR   MIM; 615816; phenotype.
DR   MedGen; CN188259.
DR   MeSH; D007153.
//
ID   Immunodeficiency 24.
AC   DI-04159
AR   IMD24.
DE   A life-threatening immunodeficiency, characterized by an impaired
DE   capacity of activated T and B cells to proliferate in response to
DE   antigen receptor-mediated activation. Patients have early onset of
DE   severe chronic viral infections, mostly caused by herpes viruses,
DE   including EBV and varicella zooster virus (VZV), and also suffer from
DE   recurrent encapsulated bacterial infections, a spectrum of infections
DE   typical of a combined deficiency of adaptive immunity.
DR   MIM; 615897; phenotype.
DR   MedGen; CN196688.
DR   MeSH; D007153.
//
ID   Immunodeficiency 25.
AC   DI-02209
AR   IMD25.
DE   An immunological deficiency characterized by T-cells impaired immune
DE   response to alloantigens, tetanus toxoid and mitogens.
SY   Immunodeficiency due to defect in CD3-zeta.
DR   MIM; 610163; phenotype.
DR   MedGen; C1857798.
DR   MeSH; D007153.
//
ID   Immunodeficiency 26 with or without neurologic abnormalities.
AC   DI-04200
AR   IMD26.
DE   A form of severe combined immunodeficiency characterized by reduced or
DE   absent T and B cells, recurrent candidiasis, and lower respiratory
DE   tract infections. Some patients show dysmorphic features, severe
DE   growth failure, microcephaly, seizures, and impaired neurological
DE   functions.
DR   MIM; 615966; phenotype.
DR   MedGen; CN218441.
DR   MeSH; D007153.
KW   KW-0705:SCID.
//
ID   Immunodeficiency 27A.
AC   DI-01964
AR   IMD27A.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas.
SY   Autosomal recessive IFNGR1  deficiency.
SY   Autosomal recessive immunodeficiency 27A, mycobacteriosis.
SY   Familial disseminated atypical mycobacterial infection.
DR   MIM; 209950; phenotype.
DR   MedGen; C4011949.
DR   MeSH; D007153.
DR   MeSH; D009164.
//
ID   Immunodeficiency 27B.
AC   DI-04225
AR   IMD27B.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas. IMD27B commonly presents with recurrent, moderately severe
DE   infections with environmental mycobacteria or BCG. Salmonellosis is
DE   present in about 5% of patients.
SY   IFNGR1 deficiency, autosomal dominant.
SY   Immunodeficiency 27B, mycobacteriosis, autosomal dominant.
DR   MIM; 615978; phenotype.
DR   MedGen; CN219206.
DR   MeSH; D007153.
DR   MeSH; D009165.
//
ID   Immunodeficiency 28.
AC   DI-04221
AR   IMD28.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas. IMD28 is an autosomal recessive disease that manifests
DE   early in life, with severe, often fatal, infection.
SY   IFNGR2  deficiency.
SY   Immunodeficiency 28, mycobacteriosis, autosomal recessive.
DR   MIM; 614889; phenotype.
DR   MedGen; CN219202.
DR   MeSH; D007153.
DR   MeSH; D009165.
//
ID   Immunodeficiency 29.
AC   DI-04222
AR   IMD29.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas. IMD29 is characterized by undetectable IL12B secretion
DE   from leukocytes. Affected individuals generally present with BCG
DE   disease after vaccination in childhood, and at least half also have
DE   Salmonella infection. Disease phenotype is relatively mild, and
DE   patients have a good prognosis.
SY   IL12B deficiency.
SY   Immunodeficiency 29, mycobacteriosis.
DR   MIM; 614890; phenotype.
DR   MedGen; CN219203.
DR   MeSH; D007153.
DR   MeSH; D009165.
//
ID   Immunodeficiency 30.
AC   DI-04223
AR   IMD30.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas. IMD30 has low penetrance, and affected individuals have
DE   relatively mild disease and good prognosis. BCG disease and
DE   salmonellosis are the most frequent infections in IMD30 patients.
SY   IL12RB1 deficiency.
DR   MIM; 614891; phenotype.
DR   MedGen; CN219204.
DR   MeSH; D007153.
DR   MeSH; D009165.
//
ID   Immunodeficiency 31A.
AC   DI-04224
AR   IMD31A.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections, with the exception of Salmonella which
DE   infects less than 50% of these individuals. Clinical outcome severity
DE   depends on the degree of impairment of interferon-gamma mediated
DE   immunity. Some patients die of overwhelming mycobacterial disease with
DE   lepromatous-like lesions in early childhood, whereas others develop,
DE   later in life, disseminated but curable infections with tuberculoid
DE   granulomas. IMD31A has low penetrance, and affected individuals have
DE   relatively mild disease and good prognosis. IMD31A confers a
DE   predisposition to mycobacterial infections only, with no increased
DE   susceptibility to viral infections.
SY   Immunodeficiency 31A, mycobacteriosis, autosomal dominant.
SY   STAT1 deficiency, autosomal dominant.
DR   MIM; 614892; phenotype.
DR   MedGen; CN219205.
DR   MeSH; D007153.
DR   MeSH; D009165.
//
ID   Immunodeficiency 31B.
AC   DI-03106
AR   IMD31B.
DE   A disorder characterized by susceptibility to severe mycobacterial and
DE   viral infections. Affected individuals can develop disseminated
DE   infections and die of viral illness.
SY   Autosomal recessive STAT1 deficiency.
SY   Autosomal recessive susceptibility to mycobacterial and viral infections.
SY   Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive.
SY   Mycobacterial and viral infections due to complete STAT1 deficiency.
DR   MIM; 613796; phenotype.
DR   MedGen; C3151088.
DR   MeSH; D007153.
//
ID   Immunodeficiency 31C.
AC   DI-03179
AR   IMD31C.
DE   A primary immunodeficiency disorder with altered immune responses and
DE   impaired clearance of fungal infections, selective against Candida. It
DE   is characterized by persistent and/or recurrent infections of the
DE   skin, nails and mucous membranes caused by organisms of the genus
DE   Candida, mainly Candida albicans.
SY   CANDF7.
SY   Candidiasis, familial, 7.
SY   Candidiasis, familial chronic mucocutaneous, autosomal dominant.
SY   Chronic mucocutaneous candidiasis 7.
DR   MIM; 614162; phenotype.
DR   MedGen; C3279990.
DR   MeSH; D002178.
//
ID   Immunodeficiency 32A.
AC   DI-03810
AR   IMD32A.
DE   An immunologic disorder characterized by abnormal peripheral blood
DE   myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic
DE   cells, resulting in selective susceptibility to mycobacterial
DE   infections.
SY   Autosomal dominant CD11C-positive/CD1C-positive dendritic cell deficiency.
SY   Autosomal dominant immunodeficiency 32A, mycobacteriosis.
SY   Autosomal dominant IRF8 deficiency.
DR   MIM; 614893; phenotype.
DR   MedGen; C3808589.
DR   MedGen; CN178080.
DR   MeSH; D007153.
//
ID   Immunodeficiency 32B.
AC   DI-03811
AR   IMD32B.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   monocyte and dendritic cell deficiency, myeloproliferation, and
DE   susceptibility to severe opportunistic infections, including
DE   disseminated BCG infection and oral candidiasis.
SY   Autosomal recessive monocyte and dendritic cell deficiency.
SY   Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive.
SY   IRF8 deficiency, autosomal recessive.
DR   MIM; 226990; phenotype.
DR   MedGen; C4016741.
DR   MeSH; D007153.
//
ID   Immunodeficiency 33.
AC   DI-02445
AR   IMD33.
DE   An X-linked recessive disorder characterized by variably impaired
DE   immunologic function and early-onset recurrent infections, usually due
DE   to pneumococcus, H. influenzae, and atypical mycobacteria. Features of
DE   hypohidrotic ectodermal dysplasia are generally not present, although
DE   some patients may have conical teeth or hypodontia.
SY   AMCBX1.
SY   Familial, X-linked, atypical mycobacteriosis 1.
SY   IPD2.
SY   Recurrent isolated invasive pneumococcal disease 2.
SY   X-linked disseminated atypical mycobacterial infection type 1.
SY   X-linked immunodeficiency 33, mycobacteriosis.
SY   X-linked susceptibility to mycobacterial disease type 1.
DR   MIM; 300636; phenotype.
DR   MedGen; C1970879.
DR   MeSH; D007153.
//
ID   Immunodeficiency 34.
AC   DI-03091
AR   IMD34.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition characterized by predisposition to illness caused by
DE   moderately virulent mycobacterial species, such as Bacillus Calmette-
DE   Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and
DE   by the more virulent Mycobacterium tuberculosis. Other microorganisms
DE   rarely cause severe clinical disease in individuals with
DE   susceptibility to mycobacterial infections, with the exception of
DE   Salmonella which infects less than 50% of these individuals.
SY   AMCBX2.
SY   Familial, X-linked, atypical mycobacteriosis 2.
SY   Familial disseminated atypical mycobacterial infection X-linked 2.
SY   Mendelian susceptibility to mycobacterial disease X-linked 2.
SY   X-linked immunodeficiency 34, mycobacteriosis.
DR   MIM; 300645; phenotype.
DR   MedGen; C1970859.
DR   MeSH; D007153.
//
ID   Immunodeficiency 35.
AC   DI-02224
AR   IMD35.
DE   A primary immunodeficiency characterized by recurrent skin abscesses,
DE   pneumonia, and highly elevated serum IgE.
SY   Autosomal recessive HIES with atypical mycobacteriosis.
SY   Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis.
SY   TYK2 deficiency.
SY   Tyrosine kinase 2 deficiency.
DR   MIM; 611521; phenotype.
DR   MedGen; C1969086.
DR   MeSH; D007153.
//
ID   Immunodeficiency 36 with lymphoproliferation.
AC   DI-04215
AR   IMD36.
DE   A primary immunodeficiency characterized by impaired B-cell function,
DE   hypogammaglobulinemia and recurrent infections.
DR   MIM; 616005; phenotype.
DR   MedGen; CN219437.
DR   MeSH; D007153.
//
ID   Immunodeficiency 37.
AC   DI-04266
AR   IMD37.
DE   A form of primary combined immunodeficiency, a group of disorders
DE   characterized by severe recurrent infections, with normal numbers or
DE   an absence of T and B lymphocytes, and impaired cellular and humoral
DE   immunity. IMD37 is characterized by hypogammaglobulinemia without
DE   lymphopenia, but with profoundly reduced memory B cells and memory T
DE   cells, and increased numbers of circulating naive lymphocytes.
DE   Inheritance is autosomal recessive.
DR   MIM; 616098; phenotype.
DR   MedGen; CN221289.
DR   MeSH; D007153.
//
ID   Immunodeficiency 38, with basal ganglia calcification.
AC   DI-04280
AR   IMD38.
DE   A primary immunodeficiency predisposing individuals to severe clinical
DE   disease upon infection with weakly virulent mycobacteria, including
DE   Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients
DE   are also susceptible to Salmonella and Mycobacterium tuberculosis
DE   infections. Affected individuals have intracranial calcification.
SY   Immunodeficiency 38, mycobacteriosis, autosomal recessive.
SY   ISG15 deficiency, autosomal recessive.
DR   MIM; 616126; phenotype.
DR   MedGen; CN221808.
DR   MeSH; D007153.
//
ID   Immunodeficiency 39.
AC   DI-04423
AR   IMD39.
DE   A primary immunodeficiency causing severe, life-threatening acute
DE   respiratory distress upon infection with H1N1 influenza A.
DR   MIM; 616345; phenotype.
DR   MedGen; CN230175.
DR   MeSH; D007153.
//
ID   Immunodeficiency 40.
AC   DI-04461
AR   IMD40.
DE   A form of combined immunodeficiency characterized by lymphopenia, and
DE   defective T-cell, B-cell, and NK-cell responses. Patients suffer from
DE   severe invasive bacterial and viral infections in early childhood and
DE   may die without bone marrow transplantation.
DR   MIM; 616433; phenotype.
DR   MedGen; CN231324.
DR   MeSH; D016511.
//
ID   Immunodeficiency 41 with lymphoproliferation and autoimmunity.
AC   DI-04551
AR   IMD41.
DE   A disorder of immune dysregulation characterized by recurrent viral,
DE   fungal, and bacterial infections, lymphadenopathy, and variable
DE   autoimmune features, such as autoimmune enteropathy and eczematous
DE   skin lesions.
SY   CD25 deficiency.
SY   IL2RA deficiency.
SY   Interleukin 2 receptor alpha deficiency.
DR   MIM; 606367; phenotype.
DR   MedGen; C1853392.
DR   MeSH; D007153.
//
ID   Immunodeficiency 42.
AC   DI-04562
AR   IMD42.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   increased susceptibility to concomitant candidiasis and
DE   mycobacteriosis. Candidiasis is characterized by persistent and/or
DE   recurrent infections of the skin, nails and mucous membranes caused by
DE   organisms of the genus Candida. Mycobacteriosis is characterized by
DE   infections caused by moderately virulent mycobacterial species, such
DE   as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-
DE   tuberculous mycobacteria, and by the more virulent Mycobacterium
DE   tuberculosis. IMD42 patients vaccinated with BCG are particularly at
DE   risk for developing disseminated mycobacterial infections.
DR   MIM; 616622; phenotype.
DR   MedGen; CN233197.
DR   MeSH; D007153.
//
ID   Immunodeficiency 43.
AC   DI-01765
AR   IMD43.
DE   A disorder characterized by marked reduction in serum concentrations
DE   of immunoglobulins and albumin, and hypoproteinemia due to
DE   hypercatabolism. Patients may suffer from recurrent respiratory tract
DE   infections and severe skin disease.
SY   B2M deficiency.
SY   Beta-2-microglobulin deficiency.
SY   Hypercatabolic hypoproteinemia.
SY   Hypoproteinemia, hypercatabolic.
DR   MIM; 241600; phenotype.
DR   MedGen; C1855796.
DR   MeSH; D007153.
//
ID   Immunodeficiency 44.
AC   DI-04585
AR   IMD44.
DE   An autosomal recessive disorder characterized by increased
DE   susceptibility to viral infection, resulting in some patients in
DE   encephalopathy and infection-associated neurologic decompensation.
DR   MIM; 616636; phenotype.
DR   MedGen; CN233344.
DR   MeSH; D007153.
//
ID   Immunodeficiency 45.
AC   DI-04586
AR   IMD45.
DE   An autosomal recessive disorder characterized by increased
DE   susceptibility to viral infection due to impaired antiviral immunity,
DE   resulting in infection-associated encephalopathy. Affected individuals
DE   are at risk for developing fatal encephalitis after routine
DE   measles/mumps/rubella (MMR) vaccination.
DR   MIM; 616669; phenotype.
DR   MedGen; CN233357.
DR   MeSH; D007153.
//
ID   Immunodeficiency 46.
AC   DI-04634
AR   IMD46.
DE   An autosomal recessive primary immunodeficiency disorder characterized
DE   by early-onset chronic diarrhea, recurrent infections, hypo- or
DE   agammaglobulinemia, normal lymphocyte counts, intermittent
DE   neutropenia, and intermittent thrombocytopenia.
DR   MIM; 616740; phenotype.
DR   MedGen; CN234781.
DR   MeSH; D007153.
//
ID   Immunodeficiency 47.
AC   DI-04743
AR   IMD47.
DE   A complex immunodeficiency syndrome characterized by
DE   hypogammaglobulinemia, recurrent bacterial infections, defective
DE   glycosylation of serum proteins, and liver disease with neonatal
DE   jaundice and hepatosplenomegaly. Some patients may also have
DE   neurologic features, including seizures, mild intellectual disability,
DE   and behavioral abnormalities. Inheritance is X-linked recessive.
SY   CDG2S.
SY   CDGIIs.
SY   CDG IIs.
SY   Congenital disorder of glycosylation, type IIs.
SY   Congenital disorder of glycosylation 2S.
SY   Immunodeficiency and hepatopathy with or without neurologic features.
DR   MIM; 300972; phenotype.
DR   MedGen; CN236829.
DR   MeSH; D007153.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Immunodeficiency 48.
AC   DI-02295
AR   IMD48.
DE   A form of severe immunodeficiency characterized by a selective absence
DE   of CD8+ T-cells.
SY   Selective T-cell defect.
SY   STCD.
DR   MIM; 269840; phenotype.
DR   MedGen; C1849236.
DR   MedGen; C2931299.
DR   MedGen; C3550707.
DR   MeSH; D016511.
//
ID   Immunodeficiency 49.
AC   DI-04911
AR   IMD49.
DE   A form of severe combined immunodeficiency characterized by severe T-
DE   cell lymphopenia, no detectable T-cell receptor excision circles, no
DE   naive helper CD4+ T-cells, and impaired T-cell proliferative response.
DE   In addition to primary immunodeficiency, affected individuals manifest
DE   multiple abnormal systemic features, including severe delayed
DE   psychomotor development, intellectual disability, spastic
DE   quadriplegia, and craniofacial abnormalities.
SY   SCID, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
SY   SCID, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
SY   Severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.
DR   MIM; 617237; phenotype.
DR   MedGen; CN239549.
DR   MeSH; D016511.
KW   KW-0705:SCID.
KW   KW-0991:Intellectual disability.
//
ID   Immunodeficiency 50.
AC   DI-04900
AR   IMD50.
DE   A primary immunodeficiency disorder characterized by onset of
DE   recurrent bacterial or varicella zoster virus infections in early
DE   childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating
DE   monocytopenia and neutropenia, and a poor immune response to vaccine
DE   antigens.
SY   Immunodeficiency 50, X-linked recessive.
DR   MIM; 300988; phenotype.
DR   MedGen; CN239572.
DR   MeSH; D007153.
//
ID   Immunodeficiency 51.
AC   DI-03104
AR   IMD51.
DE   A primary immunodeficiency disorder with altered immune responses and
DE   impaired clearance of fungal infections, selective against Candida. It
DE   is characterized by persistent and/or recurrent infections of the
DE   skin, nails and mucous membranes caused by organisms of the genus
DE   Candida, mainly Candida albicans.
SY   CANDF5.
SY   Candidiasis, familial, 5.
SY   Candidiasis familial 5 autosomal recessive.
SY   Candidiasis familial chronic mucocutaneous autosomal recessive.
SY   Chronic mucocutaneous candidiasis 5.
DR   MIM; 613953; phenotype.
DR   MedGen; C3151402.
DR   MeSH; D002178.
//
ID   Immunodeficiency 52.
AC   DI-05013
AR   IMD52.
DE   An autosomal recessive primary immunodeficiency characterized by T-
DE   cell abnormalities, resulting in severe combined immunodeficiency,
DE   autoimmune disease, progressive lymphopenia and hypogammaglobulinemia,
DE   and lymphoproliferation with splenomegaly. Patients develop severe
DE   recurrent infections from infancy.
DR   MIM; 617514; phenotype.
DR   MedGen; CN244051.
DR   MeSH; D007153.
//
ID   Immunodeficiency 53.
AC   DI-05045
AR   IMD53.
DE   An autosomal recessive primary immunodeficiency apparent from early
DE   infancy and resulting in recurrent infections, severe autoimmune skin
DE   disease rheumatoid arthritis, and failure to thrive. Immunologic
DE   workup shows increased CD4+/CD8+ ratio, impaired T-cell proliferative
DE   response to multiple antigen, T-cell developmental and functional
DE   defects, and impaired ability to produce specific immunoglobulins.
DR   MIM; 617585; phenotype.
DR   MedGen; CN347330.
DR   MeSH; D007153.
//
ID   Immunodeficiency 54.
AC   DI-03605
AR   IMD54.
DE   An autosomal recessive disorder characterized by severe intra- and
DE   extrauterine growth retardation, microcephaly, decreased numbers of
DE   natural killer cells, and recurrent viral infections, most often
DE   affecting the respiratory tract and leading to respiratory failure.
DE   Affected individuals also have adrenal insufficiency requiring
DE   corticosteroid replacement therapy and may have an increased
DE   susceptibility to cancer.
SY   Familial isolated natural killer cell deficiency.
SY   Natural killer cell and glucocorticoid deficiency with DNA repair defect.
SY   NKCD.
SY   NKGCD.
DR   MIM; 609981; phenotype.
DR   MedGen; C1864947.
DR   MeSH; D000309.
DR   MeSH; D007153.
DR   MeSH; D049914.
//
ID   Immunodeficiency 55.
AC   DI-05177
AR   IMD55.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   chronic neutropenia, natural killer cell deficiency, recurrent viral
DE   and bacterial infections, and intrauterine growth retardation.
DE   Postnatal growth retardation is present in most patients.
DR   MIM; 617827; phenotype.
DR   MedGen; CN737162.
DR   MeSH; D007153.
//
ID   Immunodeficiency 56.
AC   DI-03764
AR   IMD56.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   B- and T-cell defects and variable dysfunction of NK cells. Patients
DE   tend to have normal numbers of lymphocytes, but show defective class-
DE   switched B-cells, low IgG, defective antibody response, and defective
DE   T-cell responses to certain antigens.
SY   Autosomal recessive primary immunodeficiency IL21R-related.
SY   IL21R immunodeficiency.
DR   MIM; 615207; phenotype.
DR   MedGen; C3554687.
DR   MeSH; D007153.
//
ID   Immunodeficiency 57 with autoinflammation.
AC   DI-05328
AR   IMD57.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   lymphopenia and recurrent viral, bacterial, and fungal infections.
DE   Patients exhibit early-onset inflammatory bowel disease involving the
DE   upper and lower gastrointestinal tract, and develop progressive
DE   polyarthritis.
DR   MIM; 618108; phenotype.
DR   MedGen; CN253831.
DR   MeSH; D007153.
//
ID   Immunodeficiency 58.
AC   DI-05329
AR   IMD58.
DE   An autosomal recessive primary immunodeficiency characterized by a
DE   variety of infectious diseases, including mycobacterial diseases,
DE   mucocutaneous candidiasis, silent but detectable EBV viremia, and
DE   staphylococcal diseases. Patients suffer from dermatitis, esophagitis,
DE   recurrent skin abscesses and chest infections. Immunologic analysis
DE   shows defective T-cell function and deficient CD3/CD28 stimulation
DE   responses in both CD4+ and CD8+ T cells. B-cell function may also be
DE   impaired.
DR   MIM; 618131; phenotype.
DR   MedGen; CN253926.
DR   MeSH; D007153.
//
ID   Immunodeficiency 59 and hypoglycemia.
AC   DI-05441
AR   IMD59.
DE   An autosomal recessive primary immunologic disorder characterized by
DE   combined immunodeficiency, granulocytopenia, B-cell and dendritic cell
DE   deficiency, recurrent septic infections of the respiratory tract, skin
DE   and mucous membranes, and disturbed glucose metabolism.
SY   Granulocytopenia with immunoglobulin abnormality.
DR   MIM; 233600; phenotype.
DR   MedGen; C1856263.
DR   MeSH; D007153.
//
ID   Immunodeficiency 60 and autoimmunity.
AC   DI-05539
AR   IMD60.
DE   An autosomal dominant primary immunologic disorder characterized by
DE   intestinal inflammation, recurrent sino-pulmonary infections, impaired
DE   lymphocyte maturation, and variably decreased immunoglobulin
DE   production.
SY   BRIDA.
SY   Immunodeficiency 60.
SY   Immunodeficiency and autoimmunity, BACH2-related.
DR   MIM; 618394; phenotype.
DR   MedGen; CN258291.
DR   MeSH; D007153.
//
ID   Immunodeficiency 61.
AC   DI-05546
AR   IMD61.
DE   An X-linked recessive primary immunologic disorder characterized by
DE   recurrent infections due to impaired antibody production. Affected
DE   individuals have normal numbers of circulating B and T cells, but B
DE   cells have an intrinsic defect in antibody production. Disease
DE   severity is variable and onset is in early childhood.
SY   Agammaglobulinemia, X-linked, type 2.
SY   AGMX2.
SY   XLA2.
DR   MIM; 300310; phenotype.
DR   MedGen; C1845903.
DR   MeSH; D007153.
//
ID   Immunodeficiency 62.
AC   DI-05587
AR   IMD62.
DE   An autosomal recessive, primary immunologic disorder characterized by
DE   recurrent severe respiratory tract infections and bronchiectasis, due
DE   to antibody deficiency. Affected individuals have an abnormal B cell
DE   immunophenotype, with low levels of circulating memory B cells.
DR   MIM; 618459; phenotype.
DR   MedGen; CN258820.
DR   MeSH; D007153.
//
ID   Immunodeficiency 63 with lymphoproliferation and autoimmunity.
AC   DI-05611
AR   IMD63.
DE   An autosomal recessive disorder characterized by immune dysregulation
DE   resulting in lymphoid proliferation, dermatitis, enteropathy,
DE   autoantibodies, hypergammaglobulinemia, and immunodeficiency with
DE   recurrent infections. Patients show increased susceptibility to viral
DE   infections, particularly cytomegalovirus disease.
SY   CD122 deficiency.
SY   Deficiency of interleukin 2 receptor beta.
SY   IL2RB deficiency.
DR   MIM; 618495; phenotype.
DR   MedGen; CN260600.
DR   MeSH; D007153.
//
ID   Immunodeficiency 64 with lymphoproliferation.
AC   DI-05632
AR   IMD64.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   recurrent bacterial, viral and fungal infections, variably decreased
DE   numbers of T cells, deficiencies of B and NK cells, and increased
DE   susceptibility to Epstein-Barr virus (EBV) infection. Patients may
DE   develop lymphoproliferation or EBV-associated lymphoma. Some patients
DE   may develop features of autoimmunity.
DR   MIM; 618534; phenotype.
DR   MedGen; CN262189.
DR   MeSH; D007153.
//
ID   Immunodeficiency 65.
AC   DI-05684
AR   IMD65.
DE   An autosomal recessive immunologic disorder characterized by recurrent
DE   viral infections from early infancy. Clinical consequences are
DE   pneumonia, bronchiectasis, and septic shock. Affected individuals have
DE   lymphopenia or hypogammaglobulinemia, particularly during infection,
DE   and impaired cellular type I interferon response. Patients may have
DE   adverse response to vaccination with live attenuated vaccines.
SY   Immunodeficiency 65, susceptibility to viral infections.
DR   MIM; 618648; phenotype.
DR   MedGen; CN262580.
DR   MeSH; D007153.
//
ID   Immunodeficiency 66.
AC   DI-05815
AR   IMD66.
DE   An autosomal recessive primary immunologic disorder characterized by
DE   recurrent viral infections from infancy, associated with impaired
DE   neutrophil migration due to defects in cytoskeletal actin dynamics.
DR   MIM; 618847; phenotype.
DR   MedGen; CN280119.
DR   MeSH; D007153.
//
ID   Immunodeficiency 67.
AC   DI-01831
AR   IMD67.
DE   An autosomal recessive primary immunodeficiency characterized by
DE   recurrent, life-threatening systemic and invasive bacterial infections
DE   beginning in infancy or early childhood.
SY   IPD1.
SY   IRAK4D.
SY   IRAK4 deficiency.
SY   Recurrent isolated invasive pneumococcal disease 1.
DR   MIM; 607676; phenotype.
DR   MedGen; C1843256.
DR   MeSH; D007153.
//
ID   Immunodeficiency 68.
AC   DI-02015
AR   IMD68.
DE   An autosomal recessive primary immunodeficiency characterized by life-
DE   threatening, often recurrent, pyogenic bacterial infections, including
DE   invasive pneumococcal disease, beginning in infancy or early
DE   childhood.
SY   MYD88D.
SY   MYD88 deficiency.
SY   Recurrent pyogenic bacterial infections due to MYD88 deficiency.
DR   MIM; 612260; phenotype.
DR   MedGen; C2677092.
DR   MeSH; D007153.
//
ID   Immunodeficiency 69.
AC   DI-05886
AR   IMD69.
DE   A form of Mendelian susceptibility to mycobacterial disease, a rare
DE   condition caused by impairment of interferon-gamma mediated immunity.
DE   It is characterized by predisposition to illness caused by moderately
DE   virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG)
DE   vaccine, environmental non-tuberculous mycobacteria, and by the more
DE   virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
DE   severe clinical disease in individuals with susceptibility to
DE   mycobacterial infections. Clinical outcome severity depends on the
DE   degree of impairment of interferon-gamma mediated immunity. IMD69 is
DE   an autosomal recessive disorder manifesting with fever,
DE   hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute
DE   infection.
SY   IFNG deficiency, autosomal recessive.
SY   Immunodeficiency 69, mycobacteriosis, autosomal recessive.
DR   MIM; 618963; phenotype.
DR   MedGen; CN283304.
DR   MeSH; D007153.
DR   MeSH; D009164.
//
ID   Immunodeficiency 7.
AC   DI-04031
AR   IMD7.
DE   A primary immunodeficiency disorder manifesting with recurrent
DE   respiratory infections, candidiasis, diarrhea, and failure to thrive.
DE   Patients show a clear predisposition to herpes viral infections, and
DE   features of immune dysregulation, including hypereosinophilia,
DE   vitiligo, and alopecia areata. Other features include lymphadenopathy
DE   and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but
DE   little or no TCR-alpha/beta.
SY   Immunodeficiency 7, TCR-alpha/beta deficient.
SY   T-cell receptor-alpha/beta deficiency.
SY   TCR-alpha/beta deficiency.
DR   MIM; 615387; phenotype.
DR   MedGen; C3809332.
DR   MedGen; CN179773.
DR   MeSH; D007153.
//
ID   Immunodeficiency 70.
AC   DI-05887
AR   IMD70.
DE   A primary immunodeficiency clinically characterized by human
DE   papillomavirus-associated warts on the hands, feet and face, recurrent
DE   bacterial infections, and autoinflammatory features, such as colitis,
DE   celiac disease, and retinal vasculitis. Immunologic workup shows
DE   decreased CD4+ T cells, decreased CD19+ B cells, and
DE   hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with
DE   incomplete penetrance.
DR   MIM; 618969; phenotype.
DR   MedGen; CN283303.
DR   MeSH; D007153.
//
ID   Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia.
AC   DI-05117
AR   IMD71.
DE   An autosomal recessive disorder characterized by platelet
DE   abnormalities, vasculitis, eosinophilia, and predisposition to
DE   inflammatory diseases.
SY   Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
SY   PLTEID.
DR   MIM; 617718; phenotype.
DR   MedGen; CN570504.
DR   MeSH; D001791.
DR   MeSH; D004802.
//
ID   Immunodeficiency 72 with autoinflammation and lymphoproliferation.
AC   DI-05896
AR   IMD72.
DE   An autosomal recessive immunologic disorder characterized by onset in
DE   the first year of life, recurrent bacterial and viral skin infections,
DE   severe respiratory tract infections leading to pneumonia and
DE   bronchiectasis, and poor specific antibody responses. Patients also
DE   exhibit atopic and inflammatory disease alongside chronic
DE   hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and
DE   autoimmune manifestations.
DR   MIM; 618982; phenotype.
DR   MedGen; CN283327.
DR   MeSH; D007153.
//
ID   Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis.
AC   DI-02051
AR   IMD73A.
DE   An autosomal dominant immunologic disorder characterized by onset of
DE   recurrent infections in early infancy, leukocytosis, neutrophilia,
DE   invasive infections, and poor wound healing.
SY   Neutrophil immunodeficiency syndrome.
DR   MIM; 608203; phenotype.
DR   MedGen; C1842398.
DR   MeSH; D007153.
//
ID   Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia.
AC   DI-05898
AR   IMD73B.
DE   An autosomal dominant immunologic disorder characterized by
DE   respiratory infections, cellulitis, severe invasive infections, B- and
DE   T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset
DE   is in infancy or early childhood.
DR   MIM; 618986; phenotype.
DR   MedGen; CN283330.
DR   MeSH; D007153.
//
ID   Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia.
AC   DI-05899
AR   IMD73C.
DE   An autosomal recessive immunologic disorder characterized by recurrent
DE   respiratory infections, decreased B cells, hypogammaglobulinemia, and
DE   impaired neutrophil chemotaxis. Variable features are urticaria,
DE   recurrent erythematous plaques, food allergy, arthralgia,
DE   bronchiectasis, and lymphadenopathy. In addition, patients suffer from
DE   glomerulonephritis, coagulopathy, multiple hormone deficiencies, and
DE   abnormalities of neutrophil granules.
DR   MIM; 618987; phenotype.
DR   MedGen; CN283331.
DR   MeSH; D007153.
//
ID   Immunodeficiency 74, COVID19-related, X-linked.
AC   DI-05889
AR   IMD74.
DE   An X-linked recessive immunologic disorder characterized by impaired
DE   type I and type II interferon responses due to defective TLR7
DE   signaling. Individuals with TLR7 deficiency develop severe respiratory
DE   insufficiency in response to infection with SARS-CoV-2 coronavirus.
DE   Death from respiratory failure may occur.
SY   Respiratory insufficiency due to SARS-CoV-2 viral infection.
SY   TLR7 deficiency.
DR   MIM; 301051; phenotype.
DR   MedGen; CN283338.
DR   MeSH; D007153.
//
ID   Immunodeficiency 75 with lymphoproliferation.
AC   DI-05992
AR   IMD75.
DE   An autosomal recessive immunologic disorder characterized by recurrent
DE   infections, mainly viral and affecting the respiratory tract,
DE   immunodeficieny, immune dysregulation, and the development of
DE   lymphoproliferative disorders, including lymphoma.
DR   MIM; 619126; phenotype.
DR   MedGen; CN293597.
DR   MeSH; D007153.
//
ID   Immunodeficiency 76.
AC   DI-06026
AR   IMD76.
DE   An autosomal recessive immunologic disorder characterized by onset of
DE   recurrent bacterial, viral, and fungal infections in early childhood.
DE   Affected individuals have T-cell lymphopenia and variable B-cell or
DE   immunoglobulin abnormalities. Some patients develop B-cell lymphoma,
DE   others manifest neurologic features.
DR   MIM; 619164; phenotype.
DR   MedGen; CN295271.
DR   MeSH; D007153.
//
ID   Immunodeficiency 77.
AC   DI-06056
AR   IMD77.
DE   An autosomal dominant disorder characterized by recurrent, persistent
DE   bacterial and fungal infections with multiple unusual organisms. Skin
DE   and pulmonary infections are the most common. Patient macrophages show
DE   impaired killing of intracellular bacteria and organisms, including
DE   non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus.
DR   MIM; 619223; phenotype.
DR   MedGen; CN295865.
DR   MeSH; D007153.
//
ID   Immunodeficiency 78 with autoimmunity and developmental delay.
AC   DI-06055
AR   IMD78.
DE   An autosomal recessive disorder characterized by immune dysregulation,
DE   increased susceptibility to bacterial, viral and fungal infections,
DE   recurrent sinopulmonary or skin infections, and autoimmune
DE   abnormalities including hemolytic anemia and autoimmune cytopenias.
DE   Patients also have global developmental delay with speech delay and
DE   variable intellectual disability. Disease onset is in infancy or early
DE   childhood.
DR   MIM; 619220; phenotype.
DR   MedGen; CN295833.
DR   MeSH; D001327.
DR   MeSH; D007153.
//
ID   Immunodeficiency 79.
AC   DI-06061
AR   IMD79.
DE   An autosomal recessive disorder characterized by childhood onset of
DE   recurrent and recalcitrant skin warts due to uncontrolled viral
DE   infection with human papillomavirus (HPV). Some patients may also have
DE   recurrent respiratory infections. Laboratory studies show a complete
DE   absence of CD4+ T cells.
SY   CD4 deficiency.
DR   MIM; 619238; phenotype.
DR   MedGen; CN296016.
DR   MeSH; D007153.
//
ID   Immunodeficiency 8 with lymphoproliferation.
AC   DI-03875
AR   IMD8.
DE   A disease of the immune system leading to recurrent infections, and
DE   characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell
DE   lymphoproliferation associated with Epstein-Barr virus infection.
DR   MIM; 615401; phenotype.
DR   MedGen; C3809383.
DR   MedGen; CN179950.
DR   MeSH; D007153.
//
ID   Immunodeficiency 80 with or without congenital cardiomyopathy.
AC   DI-06100
AR   IMD80.
DE   An autosomal recessive immunologic disorder with variable
DE   manifestations including decreased B and T cells, reduced effector and
DE   memory T cells, NK cell deficiency, chronic cytomegalovirus infection.
DE   Restrictive cardiomyopathy and hypoplasia of the spleen and thymus
DE   have also been reported in some patients.
DR   MIM; 619313; phenotype.
DR   MedGen; CN296698.
DR   MeSH; D007153.
//
ID   Immunodeficiency 81.
AC   DI-06140
AR   IMD81.
DE   An autosomal recessive disorder characterized by recurrent infections,
DE   including fungal infections, associated with T cell, neutrophil, and
DE   NK cell dysfunction. B cells may also show maturation abnormalities.
DE   Other features include autoimmune hemolytic anemia and abnormal
DE   platelet aggregation.
DR   MIM; 619374; phenotype.
DR   MedGen; CN297551.
DR   MeSH; D007153.
//
ID   Immunodeficiency 82 with systemic inflammation.
AC   DI-06146
AR   IMD82.
DE   An autosomal dominant immunologic disorder with onset in early
DE   childhood. It is characterized by recurrent infections with various
DE   organisms, and multi-organ inflammation that manifests as colitis,
DE   hepatitis, arthritis and dermatitis. Patients have a propensity for
DE   the development of lymphoma, usually in adulthood. Disease severity is
DE   variable.
DR   MIM; 619381; phenotype.
DR   MedGen; CN297563.
DR   MeSH; D007153.
//
ID   Immunodeficiency 83, susceptibility to viral infections.
AC   DI-02371
AR   IMD83.
DE   An immunologic disorder characterized by increased susceptibility to
DE   severe viral infections, including herpes simplex virus (HSV),
DE   varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and
DE   possibly respiratory syncytial virus (RSV). IMD83 clinical
DE   manifestations include acute infection-induced encephalitis and
DE   pneumonitis. The susceptibility to encephalitis or pneumonitis appears
DE   to result from impaired TLR3-dependent interferon production by
DE   nonhematopoietic cells that reside within the central nervous system
DE   or lung epithelial cells. IMD83 transmission pattern is consistent
DE   with autosomal dominant or autosomal recessive inheritance with
DE   incomplete penetrance.
SY   Encephalopathy, acute, infection-induced, 2.
SY   Encephalopathy, acute, infection-induced, 2, herpes-specific.
SY   Herpes simplex encephalitis 2.
SY   HSE2.
SY   IIAE2.
SY   Infection-induced acute encephalopathy 2.
SY   TLR3-deficient herpes simplex encephalitis.
DR   MIM; 613002; phenotype.
DR   MedGen; C2751803.
DR   MeSH; D020803.
//
ID   Immunodeficiency 84.
AC   DI-06169
AR   IMD84.
DE   An autosomal recessive immunologic disorder characterized by recurrent
DE   sinopulmonary infections from childhood associated with low levels of
DE   B cells and impaired early B-cell development. There may also be
DE   variable T-cell abnormalities. Patients have increased susceptibility
DE   to infection with Epstein-Barr virus and a propensity for the
DE   development of lymphoma in adulthood.
DR   MIM; 619437; phenotype.
DR   MedGen; CN300222.
DR   MeSH; D007153.
//
ID   Immunodeficiency 85.
AC   DI-06218
AR   IMD85.
DE   An autosomal dominant immunologic disorder characterized by early-
DE   onset autoimmunity and features of combined immunodeficiency such as
DE   hypogammaglobulinemia and abnormal T-cell function. Clinical
DE   manifestations include atopic eczema and recurrent respiratory
DE   infections in the first decade of life, autoimmune enteropathy, growth
DE   failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV
DE   viremia.
DR   MIM; 619510; phenotype.
DR   MedGen; CN300408.
DR   MeSH; D007153.
//
ID   Immunodeficiency 86.
AC   DI-06255
AR   IMD86.
DE   An autosomal recessive disorder characterized by susceptibility to
DE   mycobacterial disease after exposure to BCG vaccine. Affected
DE   individuals usually develop localized mycobacterial lymphadenopathy.
SY   Immunodeficiency 86, mycobacteriosis, autosomal recessive.
DR   MIM; 619549; phenotype.
DR   MedGen; CN300806.
DR   MeSH; D007153.
//
ID   Immunodeficiency 87 and autoimmunity.
AC   DI-06246
AR   IMD87.
DE   An autosomal recessive disorder with onset in infancy or early
DE   childhood. It is characterized by increased susceptibility to
DE   infections, often Epstein-Barr virus, as well as lymphadenopathy or
DE   autoimmune manifestations, predominantly hemolytic anemia. The
DE   disorder results primarily from defects in T-cell function.
DR   MIM; 619573; phenotype.
DR   MedGen; CN301078.
DR   MeSH; D007153.
//
ID   Immunodeficiency 88.
AC   DI-06274
AR   IMD88.
DE   An autosomal recessive disorder characterized by the development of
DE   disseminated mycobacterial disease following vaccination with BCG.
DE   Clinical features included fever, lymphadenopathy, and cutaneous
DE   eruption.
SY   Immunodeficiency 88, mycobacteriosis, autosomal recessive.
DR   MIM; 619630; phenotype.
DR   MedGen; CN304965.
DR   MeSH; D007153.
//
ID   Immunodeficiency 89 and autoimmunity.
AC   DI-06275
AR   IMD89.
DE   An autosomal recessive disorder characterized by adult onset of
DE   recurrent infections, allergies, microcytic anemia, and Crohn disease.
DR   MIM; 619632; phenotype.
DR   MedGen; CN304966.
DR   MeSH; D007153.
//
ID   Immunodeficiency 9.
AC   DI-01021
AR   IMD9.
DE   An immune disorder characterized by recurrent infections, impaired
DE   activation and proliferative response of T-cells, decreased T-cell
DE   production of cytokines, and normal lymphocytes counts and serum
DE   immunoglobulin levels. In surviving patients ectodermal dysplasia with
DE   anhidrosis and non-progressive myopathy may be observed.
SY   Immune dysfunction with T-cell inactivation due to calcium entry defect 1.
SY   Severe combined immunodeficiency due to CRAC channel dysfunction.
DR   MIM; 612782; phenotype.
DR   MedGen; C2748568.
DR   MeSH; D007153.
//
ID   Immunodeficiency 91 and hyperinflammation.
AC   DI-06288
AR   IMD91.
DE   An autosomal recessive disorder characterized by immunodeficiency,
DE   recurrent infections, and hyperinflammation with systemic involvement.
DE   Most patients eventually develop hepatic or renal failure, may have
DE   compromised neurologic function, lymphadenopathy or
DE   hepatosplenomegaly. Early death often occurs due to multiorgan
DE   failure.
DR   MIM; 619644; phenotype.
DR   MedGen; CN305189.
DR   MeSH; D007153.
//
ID   Immunodeficiency 92.
AC   DI-06291
AR   IMD92.
DE   An autosomal recessive disorder characterized by recurrent bacterial,
DE   viral, fungal, or parasitic infections appearing in infancy or early
DE   childhood. Patient lymphocytes show defects in both T- and B-cell
DE   proliferation, cytokine secretion, and overall function, and there is
DE   also evidence of dysfunction of NK, certain antigen-presenting cells,
DE   and myeloid subsets.
DR   MIM; 619652; phenotype.
DR   MedGen; CN305208.
DR   MeSH; D007153.
//
ID   Immunodeficiency 93 and hypertrophic cardiomyopathy.
AC   DI-06317
AR   IMD93.
DE   An autosomal recessive disorder characterized by onset of recurrent
DE   viral and bacterial infections, particularly with encapsulated
DE   bacteria, and hypertrophic cardiomyopathy in the first months or years
DE   of life.
DR   MIM; 619705; phenotype.
DR   MedGen; CN306132.
DR   MeSH; D007153.
KW   KW-0122:Cardiomyopathy.
//
ID   Immunodeficiency 94 with autoinflammation and dysmorphic facies.
AC   DI-06346
AR   IMD94.
DE   An autosomal dominant disorder characterized by onset in early
DE   infancy, lymphadenopathy, autoinflammation, immunodeficiency with
DE   hypogammaglobulinemia, and dysmorphic facial features.
DR   MIM; 619750; phenotype.
DR   MedGen; CN306774.
DR   MeSH; D007153.
//
ID   Immunodeficiency 95.
AC   DI-06358
AR   IMD95.
DE   An autosomal recessive disorder characterized by the onset of
DE   recurrent and severe viral respiratory infections in infancy or early
DE   childhood, and impaired interferon production during viral infection.
DR   MIM; 619773; phenotype.
DR   MedGen; CN306973.
DR   MeSH; D007153.
//
ID   Immunodeficiency 96.
AC   DI-06359
AR   IMD96.
DE   An autosomal recessive disorder characterized by onset of recurrent,
DE   usually viral, respiratory infections in infancy or early childhood.
DE   Other infections, including gastrointestinal and urinary tract
DE   infections, may also occur. Laboratory studies show
DE   hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells,
DE   and erythrocyte macrocytosis.
DR   MIM; 619774; phenotype.
DR   MedGen; CN306974.
DR   MeSH; D007153.
//
ID   Immunodeficiency 97 with autoinflammation.
AC   DI-06382
AR   IMD97.
DE   An autosomal recessive disorder with variable features. Affected
DE   individuals have childhood-onset antibody defects, cytopenias, and T
DE   lymphocytic pneumonitis and colitis. Some patients may have features
DE   of hemophagocytic lymphohistiocytosis.
DR   MIM; 619802; phenotype.
DR   MedGen; CN307962.
DR   MeSH; D007153.
//
ID   Immunodeficiency 98 with autoinflammation, X-linked.
AC   DI-06381
AR   IMD98.
DE   An X-linked disorder characterized by onset of recurrent infections
DE   associated with lymphoproliferation and autoinflammation in the first
DE   decade of life. Mostly males are affected; carrier females may have
DE   mild symptoms. Features include mouth ulcers, fever, poor early
DE   growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non-
DE   infectious enteritis.
SY   Inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8.
SY   INFLTR8.
DR   MIM; 301078; phenotype.
DR   MedGen; CN311637.
DR   MeSH; D007153.
//
ID   Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias.
AC   DI-06402
AR   IMD99.
DE   An autosomal recessive immunologic disorder characterized by recurrent
DE   sinopulmonary infections appearing in early childhood, B- and T-cell
DE   lymphopenia, and progressive severe hypogammaglobulinemia with
DE   decreased memory B cells. Patients may develop autoimmune cytopenias,
DE   such as thrombocytopenia, or autoimmune features, such as vitiligo.
DR   MIM; 619846; phenotype.
DR   MedGen; CN312012.
DR   MeSH; D007153.
//
ID   Immunodeficiency due to defect in MAPBP-interacting protein.
AC   DI-01810
AR   ID-MAPBPIP.
DE   This form of primary immunodeficiency syndrome includes congenital
DE   neutropenia, partial albinism, short stature and B-cell and cytotoxic
DE   T-cell deficiency.
DR   MIM; 610798; phenotype.
DR   MedGen; C1835829.
//
ID   Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome.
AC   DI-01811
AR   IPEX.
DE   Characterized by neonatal onset insulin-dependent diabetes mellitus,
DE   infections, secretory diarrhea, thrombocytopenia, anemia and eczema.
DE   It is usually lethal in infancy.
SY   X-linked autoimmunity-immunodeficiency syndrome.
DR   MIM; 304790; phenotype.
DR   MedGen; C0342288.
DR   MedGen; C1844663.
//
ID   Immunodeficiency with hyper-IgM 2.
AC   DI-01241
AR   HIGM2.
DE   A rare immunodeficiency syndrome characterized by normal or elevated
DE   serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE   profound susceptibility to bacterial infections.
SY   Hyper-IgM immunodeficiency type 2.
SY   Hyper-IgM syndrome 2.
DR   MIM; 605258; phenotype.
DR   MedGen; C1720956.
DR   MeSH; D053306.
//
ID   Immunodeficiency with hyper-IgM 3.
AC   DI-01763
AR   HIGM3.
DE   A rare immunodeficiency syndrome characterized by normal or elevated
DE   serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE   profound susceptibility to bacterial infections.
SY   Hyper-IgM immunodeficiency type 3.
SY   Hyper-IgM syndrome 3.
DR   MIM; 606843; phenotype.
DR   MedGen; C1720957.
DR   MeSH; D053306.
//
ID   Immunodeficiency with hyper-IgM 5.
AC   DI-01812
AR   HIGM5.
DE   A rare immunodeficiency syndrome characterized by normal or elevated
DE   serum IgM levels with absence of IgG, IgA, and IgE. It results in a
DE   profound susceptibility to bacterial infections.
SY   Hyper-IgM immunodeficiency type 5.
SY   Hyper-IgM syndrome 5.
DR   MIM; 608106; phenotype.
DR   MedGen; C1720958.
DR   MeSH; D053306.
//
ID   Immunodeficiency with hyper-IgM, type 1.
AC   DI-02449
AR   HIGM1.
DE   Immunoglobulin isotype switch defect characterized by elevated
DE   concentrations of serum IgM and decreased amounts of all other
DE   isotypes. Affected males present at an early age (usually within the
DE   first year of life) recurrent bacterial and opportunistic infections,
DE   including Pneumocystis carinii pneumonia and intractable diarrhea due
DE   to cryptosporidium infection. Despite substitution treatment with
DE   intravenous immunoglobulin, the overall prognosis is rather poor, with
DE   a death rate of about 10% before adolescence.
SY   HIGM.
SY   Hyper-IgM syndrome.
SY   Hyper-IgM syndrome 1.
SY   IHIS.
SY   IMD3.
SY   Immunodeficiency 3.
SY   XHIM.
SY   X-linked hyper IgM syndrome.
SY   X-linked immunodeficiency with hyper-IgM 1.
DR   MIM; 308230; phenotype.
DR   MedGen; C0398689.
DR   MeSH; D053307.
//
ID   Immunodeficiency, common variable, 1.
AC   DI-01805
AR   CVID1.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to ICOS defect.
SY   ICOS deficiency.
DR   MIM; 607594; phenotype.
DR   MedGen; C0009447.
DR   MedGen; C3149378.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 10.
AC   DI-03979
AR   CVID10.
DE   A primary immunodeficiency characterized by childhood-onset of
DE   recurrent infections, hypogammaglobulinemia, and decreased numbers of
DE   memory and marginal zone B-cells. Some patients may develop autoimmune
DE   features and have circulating autoantibodies. An unusual feature is
DE   central adrenal insufficiency.
SY   Common variable immunodeficiency with central adrenal insufficiency.
SY   DAVID.
SY   Deficit in anterior pituitary function and variable immunodeficiency.
DR   MIM; 615577; phenotype.
DR   MedGen; C3809991.
DR   MedGen; CN185293.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 11.
AC   DI-04080
AR   CVID11.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   IL21 deficiency.
DR   MIM; 615767; phenotype.
DR   MedGen; CN186320.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 12, with autoimmunity.
AC   DI-04553
AR   CVID12.
DE   A primary immunodeficiency characterized by hypogammaglobulinemia and
DE   recurrent bacterial infections. About half of patients develop
DE   autoimmune features, including cytopenia, as well as generalized
DE   inflammation and lymphoproliferation manifest as lymphadenopathy or
DE   hepatosplenomegaly.
SY   NFKB1 deficiency.
DR   MIM; 616576; phenotype.
DR   MedGen; CN233034.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 13.
AC   DI-04688
AR   CVID13.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. CVID13 is an autosomal
DE   dominant disease associated with a striking decrease in B-cell
DE   numbers.
DR   MIM; 616873; phenotype.
DR   MedGen; CN235673.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 14.
AC   DI-05140
AR   CVID14.
DE   A primary immunodeficiency resulting in recurrent sinopulmonary
DE   infections since early childhood, and characterized by
DE   hypogammaglobulinemia with undetectable IgG and IgA, poor response to
DE   vaccination, and decreased levels of switched memory B cells. CVID14
DE   inheritance is autosomal dominant.
DR   MIM; 617765; phenotype.
DR   MedGen; CN615280.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 2.
AC   DI-01371
AR   CVID2.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to TACI defect.
SY   Hypogammaglobulinemia due to TACI deficiency.
DR   MIM; 240500; phenotype.
DR   MedGen; C3150354.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 3.
AC   DI-02800
AR   CVID3.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to CD19 defect.
DR   MIM; 613493; phenotype.
DR   MedGen; C3150738.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 4.
AC   DI-02801
AR   CVID4.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to BAFFR defect.
DR   MIM; 613494; phenotype.
DR   MedGen; C3150739.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 5.
AC   DI-02802
AR   CVID5.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to CD20 defect.
DR   MIM; 613495; phenotype.
DR   MedGen; C3150740.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 6.
AC   DI-02803
AR   CVID6.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
SY   Antibody deficiency due to CD81 defect.
DR   MIM; 613496; phenotype.
DR   MedGen; C3150741.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 7.
AC   DI-03489
AR   CVID7.
DE   A primary immunodeficiency characterized by antibody deficiency,
DE   hypogammaglobulinemia, recurrent bacterial infections and an inability
DE   to mount an antibody response to antigen. The defect results from a
DE   failure of B-cell differentiation and impaired secretion of
DE   immunoglobulins; the numbers of circulating B-cells is usually in the
DE   normal range, but can be low.
DR   MIM; 614699; phenotype.
DR   MedGen; C3542922.
DR   MedGen; CN130275.
DR   MeSH; D017074.
//
ID   Immunodeficiency, common variable, 8, with autoimmunity.
AC   DI-03490
AR   CVID8.
DE   An autosomal recessive immunologic disorder associated with defective
DE   B-cell differentiation and decreased or absent antibody production.
DE   Affected individuals have early-childhood onset of recurrent
DE   infections, particularly respiratory infections, and also develop
DE   variable autoimmune disorders, including idiopathic thrombocytopenic
DE   purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
DR   MIM; 614700; phenotype.
DR   MedGen; C3553512.
DR   MedGen; CN130276.
DR   MeSH; D017074.
//
ID   Immunodeficiency, developmental delay, and hypohomocysteinemia.
AC   DI-05121
AR   IMDDHH.
DE   An early onset multisystem disorder characterized by immunodeficiency,
DE   recurrent infections, developmental delay, poor growth, intellectual
DE   disability, and hypohomocysteinemia. Some patients manifest congenital
DE   cardiac defects. IMDDHH inheritance pattern is autosomal dominant.
DR   MIM; 617744; phenotype.
DR   MedGen; CN578218.
DR   MeSH; D007153.
//
ID   Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.
AC   DI-03201
AR   XMEN.
DE   A disease characterized by CD4 lymphopenia, severe chronic viral
DE   infections, and defective T-lymphocyte activation.
DR   MIM; 300853; phenotype.
DR   MedGen; C3275445.
DR   MeSH; D008231.
//
ID   Immunodeficiency-centromeric instability-facial anomalies syndrome 1.
AC   DI-01813
AR   ICF1.
DE   A rare disorder characterized by a variable immunodeficiency resulting
DE   in recurrent infections, facial anomalies, and branching of
DE   chromosomes 1, 9, and 16. Other variable symptoms include growth
DE   retardation, failure to thrive, and psychomotor retardation.
DE   Laboratory studies show limited hypomethylation of DNA in a small
DE   fraction of the genome in some, but not all, patients.
SY   Centromeric instability immunodeficiency syndrome.
SY   CIID.
SY   ICF syndrome.
SY   Variable immune deficiency with centromeric instability of chromosomes 1 9 and 16.
SY   Variable immunodeficiency syndrome.
DR   MIM; 242860; phenotype.
DR   MedGen; C0398788.
DR   MeSH; D007153.
DR   MeSH; D043171.
//
ID   Immunodeficiency-centromeric instability-facial anomalies syndrome 2.
AC   DI-03138
AR   ICF2.
DE   A rare disorder characterized by a variable immunodeficiency resulting
DE   in recurrent infections, facial anomalies, and branching of
DE   chromosomes 1, 9, and 16. Other variable symptoms include growth
DE   retardation, failure to thrive, and psychomotor retardation.
DE   Laboratory studies show limited hypomethylation of DNA in a small
DE   fraction of the genome in some, but not all, patients.
DR   MIM; 614069; phenotype.
DR   MedGen; C3279748.
DR   MeSH; D007153.
DR   MeSH; D043171.
//
ID   Immunodeficiency-centromeric instability-facial anomalies syndrome 3.
AC   DI-04704
AR   ICF3.
DE   A rare disorder characterized by a variable immunodeficiency resulting
DE   in recurrent infections, facial anomalies, and branching of
DE   chromosomes 1, 9, and 16. Other variable symptoms include growth
DE   retardation, failure to thrive, and psychomotor retardation.
DE   Laboratory studies show limited hypomethylation of DNA in a small
DE   fraction of the genome in some, but not all, patients.
DR   MIM; 616910; phenotype.
DR   MedGen; CN236377.
DR   MeSH; D007153.
DR   MeSH; D043171.
//
ID   Immunodeficiency-centromeric instability-facial anomalies syndrome 4.
AC   DI-04705
AR   ICF4.
DE   A rare disorder characterized by a variable immunodeficiency resulting
DE   in recurrent infections, facial anomalies, and branching of
DE   chromosomes 1, 9, and 16. Other variable symptoms include growth
DE   retardation, failure to thrive, and psychomotor retardation.
DE   Laboratory studies show limited hypomethylation of DNA in a small
DE   fraction of the genome in some, but not all, patients.
DR   MIM; 616911; phenotype.
DR   MedGen; CN236378.
DR   MeSH; D007153.
DR   MeSH; D043171.
//
ID   Immunoglobulin A deficiency 2.
AC   DI-01814
AR   IGAD2.
DE   Selective deficiency of immunoglobulin A (IGAD) is the most common
DE   form of primary immunodeficiency, with an incidence of approximately 1
DE   in 600 individuals in the western world. Individuals with symptomatic
DE   IGAD often have deficiency of IgG subclasses or decreased antibody
DE   response to carbohydrate antigens such as pneumococcal polysaccharide
DE   vaccine. Individuals with IGAD also suffer from recurrent
DE   sinopulmonary and gastrointestinal infections and have an increased
DE   incidence of autoimmune disorders and of lymphoid and non-lymphoid
DE   malignancies. In vitro studies have suggested that some individuals
DE   with IGAD have impaired isotype class switching to IgA and others may
DE   have a post-switch defect. IGAD and CVID have been known to coexist in
DE   families. Some individuals initially present with IGAD1 and then
DE   develop CVID. These observations suggest that some cases of IGAD and
DE   CVID may have a common etiology.
DR   MIM; 609529; phenotype.
DR   MedGen; C1836032.
//
ID   Immunoglobulin kappa light chain deficiency.
AC   DI-03204
AR   IGKCD.
DE   A disease characterized by the complete absence of immunoglobulin
DE   kappa chains.
SY   Kappa chain deficiency.
DR   MIM; 614102; phenotype.
DR   MedGen; C3279824.
DR   MeSH; D007153.
//
ID   Immunoskeletal dysplasia with neurodevelopmental abnormalities.
AC   DI-04990
AR   ISDNA.
DE   An autosomal recessive disorder characterized by variable skeletal
DE   abnormalities and neurodevelopmental defects. Neurologic
DE   manifestations include intellectual disability and motor delay. Some
DE   patients manifest hypotonia and seizures. Skeletal features include
DE   disproportionate short stature, cervical malformations, epiphyseal and
DE   metaphyseal dysplasia, and rarely premature craniosynostosis with
DE   progressive microcephaly. Severe combined immunodeficiency with a
DE   complete absence of T cells is observed in some patients.
DR   MIM; 617425; phenotype.
DR   MedGen; CN241841.
DR   MeSH; D010009.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Impaired intellectual development and distinctive facial features with or without cardiac defects.
AC   DI-04642
AR   MRFACD.
DE   An autosomal dominant syndrome characterized by intellectual
DE   disability, delayed psychomotor development, profound language
DE   impairment, and facial dysmorphism, including frontal bossing,
DE   upslanting palpebral fissures, depressed nasal bridge with bulbous
DE   tip, and macrostomia. There is variable penetrance of cardiac
DE   malformations, ranging from no malformations to patent foramen ovale
DE   to septal defects and/or transposition of the great arteries.
SY   Asadollahi-Rauch syndrome.
DR   MIM; 616789; phenotype.
DR   MedGen; CN235106.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Impaired intellectual development, anterior maxillary protrusion, and strabismus.
AC   DI-02951
AR   MRAMS.
DE   A syndrome characterized by severe intellectual disability, strabismus
DE   and dysmorphic features such as anterior maxillary protrusion with
DE   vertical maxillary excess, open bite and prominent crowded teeth. Some
DE   patients may lack dysmorphic features and manifest temporal lobe
DE   epilepsy and psychosis. Esotropia and amblyopia are present in some
DE   individuals.
DR   MIM; 613671; phenotype.
DR   MedGen; C3150924.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis.
AC   DI-02533
AR   MORMS.
DE   An autosomal recessive disorder characterized by moderate intellectual
DE   disability, truncal obesity, congenital non-progressive retinal
DE   dystrophy, and micropenis in males. The phenotype is similar to
DE   Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are
DE   the age of onset, the non-progressive nature of the visual impairment,
DE   lack of dysmorphic facies, skin or gingival infection, microcephaly,
DE   mottled retina, polydactyly, and testicular anomalies.
SY   MORM syndrome.
DR   MIM; 610156; phenotype.
DR   MedGen; C1857802.
DR   MeSH; D008607.
DR   MeSH; D009765.
DR   MeSH; D010409.
DR   MeSH; D058499.
KW   KW-0550:Obesity.
KW   KW-0991:Intellectual disability.
//
ID   Inclusion body myopathy and brain white matter abnormalities.
AC   DI-06329
AR   IBMWMA.
DE   An autosomal dominant, adult-onset disorder characterized
DE   predominantly by proximal limb girdle muscle weakness affecting the
DE   lower and upper limbs and resulting in gait difficulties and scapular
DE   winging. Additional features may include dysarthria, dysphagia, low
DE   back pain, and hyporeflexia. Muscle biopsy shows fiber type variation,
DE   internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates
DE   or inclusions. Cognitive impairment or frontotemporal dementia occurs
DE   in some patients.
SY   MSP6.
SY   Multisystem proteinopathy 6.
DR   MIM; 619733; phenotype.
DR   MedGen; CN306476.
DR   MeSH; D018979.
DR   MeSH; D049288.
DR   MeSH; D057180.
//
ID   Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1.
AC   DI-01817
AR   IBMPFD1.
DE   An autosomal dominant disease characterized by disabling muscle
DE   weakness clinically resembling to limb girdle muscular dystrophy,
DE   osteolytic bone lesions consistent with Paget disease, and premature
DE   frontotemporal dementia. Clinical features show incomplete penetrance.
SY   Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.
SY   Limb-girdle muscular dystrophy with Paget disease of bone.
SY   Lower motor neuron degeneration with Paget-like bone disease.
SY   Pagetoid amyotrophic lateral sclerosis.
SY   Pagetoid neuroskeletal syndrome.
DR   MIM; 167320; phenotype.
DR   MedGen; C1833662.
DR   MeSH; D010001.
DR   MeSH; D018979.
DR   MeSH; D049288.
DR   MeSH; D057180.
//
ID   Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2.
AC   DI-03892
AR   IBMPFD2.
DE   An autosomal dominant disease characterized by disabling muscle
DE   weakness clinically resembling to limb girdle muscular dystrophy,
DE   osteolytic bone lesions consistent with Paget disease, and premature
DE   frontotemporal dementia. Clinical features show incomplete penetrance.
SY   MSP2.
SY   Multisystem proteinopathy 2.
DR   MIM; 615422; phenotype.
DR   MedGen; C3809468.
DR   MedGen; CN180154.
DR   MeSH; D010001.
DR   MeSH; D018979.
DR   MeSH; D049288.
DR   MeSH; D057180.
//
ID   Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.
AC   DI-03882
AR   IBMPFD3.
DE   An autosomal dominant disease characterized by disabling muscle
DE   weakness clinically resembling to limb girdle muscular dystrophy,
DE   osteolytic bone lesions consistent with Paget disease, and premature
DE   frontotemporal dementia. Clinical features show incomplete penetrance.
SY   MSP3.
SY   Multisystem proteinopathy 3.
DR   MIM; 615424; phenotype.
DR   MedGen; C3809469.
DR   MedGen; CN180155.
DR   MeSH; D010001.
DR   MeSH; D018979.
DR   MeSH; D049288.
DR   MeSH; D057180.
//
ID   Incontinentia pigmenti.
AC   DI-00597
AR   IP.
DE   A genodermatosis usually prenatally lethal in males. In affected
DE   females, it causes abnormalities of the skin, hair, eyes, nails,
DE   teeth, skeleton, heart, and central nervous system. The prominent skin
DE   signs occur in four classic cutaneous stages: perinatal inflammatory
DE   vesicles, verrucous patches, a distinctive pattern of
DE   hyperpigmentation and dermal scarring.
SY   Bloch-Sulzberger syndrome.
SY   Familial incontinentia pigmenti male-lethal type.
SY   Familial incontinentia pigmenti type II.
SY   IP2.
DR   MIM; 308300; phenotype.
DR   MedGen; C0021171.
DR   MedGen; C2930820.
DR   MeSH; D007184.
//
ID   Indifference to pain, congenital, autosomal recessive.
AC   DI-01231
AR   CIP.
DE   A disorder characterized by congenital inability to perceive any form
DE   of pain, in any part of the body. All other sensory modalities are
DE   preserved and the peripheral and central nervous systems are
DE   apparently intact. Patients perceive the sensations of touch, warm and
DE   cold temperature, proprioception, tickle and pressure, but not painful
DE   stimuli. There is no evidence of a motor or sensory neuropathy, either
DE   axonal or demyelinating.
SY   Asymbolia for pain.
SY   Channelopathy-associated insensitivity to pain.
SY   Congenital analgesia autosomal recessive.
DR   MIM; 243000; phenotype.
DR   MedGen; C1855739.
DR   MeSH; D000699.
//
ID   Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
AC   DI-05490
AR   CASGID.
DE   An autosomal dominant disease characterized by infantile-onset
DE   cataract, erythematic subcutaneous nodules, profound developmental
DE   delay, self-injurious behavior, and intracerebral glutamate excess.
DE   Histopathologic analysis of skin lesions show deep perivascular and
DE   periglandular lymphohistiocytic infiltrates and pronounced
DE   leukocytoclasia at the surface of the dermis, focal vacuolar
DE   alterations, hyperkeratosis, and parakeratosis of the epidermis.
DR   MIM; 618339; phenotype.
DR   MedGen; CN258223.
DR   MeSH; D001927.
DR   MeSH; D002386.
DR   MeSH; D012873.
KW   KW-0898:Cataract.
//
ID   Infantile cerebellar-retinal degeneration.
AC   DI-03409
AR   ICRD.
DE   A severe autosomal recessive neurodegenerative disorder characterized
DE   by onset between ages 2 and 6 months of truncal hypotonia, athetosis,
DE   seizures, and ophthalmologic abnormalities, particularly optic atrophy
DE   and retinal degeneration. Affected individuals show profound
DE   psychomotor retardation, with only some achieving rolling, sitting, or
DE   recognition of family. Brain MRI shows progressive cerebral and
DE   cerebellar degeneration.
DR   MIM; 614559; phenotype.
DR   MedGen; C3281192.
DR   MeSH; D012162.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Infantile liver failure syndrome 1.
AC   DI-03895
AR   ILFS1.
DE   A life-threatening disorder of hepatic function that manifests with
DE   acute liver failure in the first few months of life. Clinical features
DE   include anemia, renal tubulopathy, developmental delay, seizures,
DE   failure to thrive, and liver steatosis and fibrosis.
DR   MIM; 615438; phenotype.
DR   MedGen; C3809522.
DR   MeSH; D017093.
//
ID   Infantile liver failure syndrome 2.
AC   DI-04550
AR   ILFS2.
DE   A form of infantile liver failure syndrome, a life-threatening
DE   disorder of hepatic function that manifests with acute liver failure
DE   in the first few months of life. Clinical features include anemia,
DE   renal tubulopathy, developmental delay, seizures, failure to thrive,
DE   and liver steatosis and fibrosis.
DR   MIM; 616483; phenotype.
DR   MedGen; CN232144.
DR   MeSH; D017093.
//
ID   Infantile liver failure syndrome 3.
AC   DI-05669
AR   ILFS3.
DE   A form of infantile liver failure syndrome, a life-threatening
DE   disorder of hepatic function that manifests with acute liver failure
DE   in the first months or years of life. ILFS3 is an autosomal recessive
DE   form characterized by recurrent episodes of acute liver failure often
DE   triggered by infection or fever. Affected individuals also have
DE   skeletal anomalies of the vertebral bodies and femoral heads.
DR   MIM; 618641; phenotype.
DR   MedGen; CN262533.
DR   MeSH; D017093.
//
ID   Infantile sialic acid storage disorder.
AC   DI-01820
AR   ISSD.
DE   Severe form of sialic acid storage disease. Affected newborns exhibit
DE   visceromegaly, coarse features and failure to thrive immediately after
DE   birth. These patients have a shortened life span, usually less than 2
DE   years.
SY   N-acetylneuraminic acid storage disease.
SY   NSD.
DR   MIM; 269920; phenotype.
DR   MedGen; C1096902.
DR   MedGen; C2930923.
//
ID   Infantile striatonigral degeneration.
AC   DI-01821
AR   SNDI.
DE   Neurological disorder characterized by symmetrical degeneration of the
DE   caudate nucleus, putamen, and occasionally the globus pallidus, with
DE   little involvement of the rest of the brain. The clinical features
DE   include developmental regression, choreoathetosis, dystonia,
DE   spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy,
DE   and intellectual disability.
SY   Familial striatal degeneration.
SY   IBSN.
SY   Infantile bilateral striatal necrosis.
DR   MIM; 271930; phenotype.
DR   MedGen; C0795996.
//
ID   Infantile-onset ascending spastic paralysis.
AC   DI-01823
AR   IAHSP.
DE   Characterized by progressive spasticity and weakness of limbs.
DR   MIM; 607225; phenotype.
DR   MedGen; C1846588.
DR   MedGen; C2931441.
//
ID   Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations.
AC   DI-03003
AR   IEHDCM.
DE   A condition with biological features of autoimmune lymphoproliferative
DE   syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell
DE   counts, and elevated IL10 and FASL levels. Affected individuals suffer
DE   from recurrent, stereotypical episodes of fever, encephalopathy, and
DE   mild liver dysfunction sometimes accompanied by generalized seizures.
DE   The episodes can be triggered by varicella zoster virus (VZV), measles
DE   mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and
DE   Epstein-Barr virus (EBV).
DR   MIM; 613759; phenotype.
DR   MedGen; C3151062.
DR   MeSH; D007160.
//
ID   Inflammatory bowel disease 1.
AC   DI-01452
AR   IBD1.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
SY   Crohn disease.
SY   Crohn disease-associated growth failure.
SY   Inflammatory bowel disease (Crohn disease) 1.
SY   Regional enteritis.
SY   Ulcerative colitis.
DR   MIM; 266600; phenotype.
DR   MedGen; C0009324.
DR   MedGen; C0010346.
DR   MedGen; C0678202.
DR   MedGen; C2675113.
DR   MeSH; D003093.
DR   MeSH; D003424.
//
ID   Inflammatory bowel disease 10.
AC   DI-02658
AR   IBD10.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
SY   Inflammatory bowel disease (Crohn disease) 10.
DR   MIM; 611081; phenotype.
DR   MedGen; C1970207.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 13.
AC   DI-02657
AR   IBD13.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
DR   MIM; 612244; phenotype.
DR   MedGen; C2677101.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 14.
AC   DI-02656
AR   IBD14.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
DR   MIM; 612245; phenotype.
DR   MedGen; C2677100.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 17.
AC   DI-02655
AR   IBD17.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
DR   MIM; 612261; phenotype.
DR   MedGen; C2677091.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 19.
AC   DI-03080
AR   IBD19.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
SY   Inflammatory bowel disease (Crohn disease) 19.
DR   MIM; 612278; phenotype.
DR   MedGen; C2677079.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 25, autosomal recessive.
AC   DI-02673
AR   IBD25.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
SY   Early-onset autosomal recessive inflammatory bowel disease.
DR   MIM; 612567; phenotype.
DR   MedGen; C2675508.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 28, autosomal recessive.
AC   DI-02674
AR   IBD28.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
SY   Early-onset autosomal recessive inflammatory bowel disease.
DR   MIM; 613148; phenotype.
DR   MedGen; C2751053.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 29.
AC   DI-05306
AR   IBD29.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology. It is subdivided into Crohn disease and ulcerative
DE   colitis phenotypes. Crohn disease may affect any part of the
DE   gastrointestinal tract from the mouth to the anus, but most frequently
DE   it involves the terminal ileum and colon. Bowel inflammation is
DE   transmural and discontinuous; it may contain granulomas or be
DE   associated with intestinal or perianal fistulas. In contrast, in
DE   ulcerative colitis, the inflammation is continuous and limited to
DE   rectal and colonic mucosal layers; fistulas and granulomas are not
DE   observed. Both diseases include extraintestinal inflammation of the
DE   skin, eyes, or joints.
DR   MIM; 618077; phenotype.
DR   MedGen; CN252686.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 30.
AC   DI-05954
AR   IBD30.
DE   A chronic, relapsing inflammation of the gastrointestinal tract with a
DE   complex etiology and a multifactorial inheritance pattern. It is
DE   subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn
DE   disease may affect any part of the gastrointestinal tract from the
DE   mouth to the anus, but most frequently it involves the terminal ileum
DE   and colon. Bowel inflammation is transmural and discontinuous; it may
DE   contain granulomas or be associated with intestinal or perianal
DE   fistulas. In contrast, in ulcerative colitis, the inflammation is
DE   continuous and limited to rectal and colonic mucosal layers; fistulas
DE   and granulomas are not observed. Both diseases include extraintestinal
DE   inflammation of the skin, eyes, or joints.
DR   MIM; 619079; phenotype.
DR   MedGen; CN293414.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease 31, autosomal recessive.
AC   DI-06149
AR   IBD31.
DE   A form of inflammatory bowel disease, a chronic, relapsing
DE   inflammation of the gastrointestinal tract with a complex etiology and
DE   a multifactorial inheritance pattern. It is subdivided into Crohn
DE   disease and ulcerative colitis phenotypes. Crohn disease may affect
DE   any part of the gastrointestinal tract from the mouth to the anus, but
DE   most frequently it involves the terminal ileum and colon. Bowel
DE   inflammation is transmural and discontinuous; it may contain
DE   granulomas or be associated with intestinal or perianal fistulas. In
DE   contrast, in ulcerative colitis, the inflammation is continuous and
DE   limited to rectal and colonic mucosal layers; fistulas and granulomas
DE   are not observed. Both diseases include extraintestinal inflammation
DE   of the skin, eyes, or joints. IBD31 patients suffer from infantile
DE   ulcerative colitis and present with recurrent bloody diarrhea with
DE   anemia and leukocytosis, extensive lymphoplasmocytic infiltration,
DE   cryptitis, and apoptotic crypt abcesses throughout the colon and
DE   rectum.
SY   Inflammatory bowel disease, early-onset, autosomal recessive.
SY   Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive.
DR   MIM; 619398; phenotype.
DR   MedGen; CN299111.
DR   MeSH; D015212.
//
ID   Inflammatory bowel disease, immunodeficiency, and encephalopathy.
AC   DI-05431
AR   IBDIMDE.
DE   An autosomal recessive disorder characterized by severe infantile
DE   inflammatory bowel disease manifesting as bloody diarrhea and failure
DE   to thrive, global developmental delay, epilepsy, brain atrophy and
DE   encephalopathy. Affected individuals suffer from recurrent infections
DE   associated with impaired T-cell response to stimulation and decreased
DE   T-cell subsets, including regulatory and helper T cells.
DR   MIM; 618213; phenotype.
DR   MedGen; CN257492.
DR   MeSH; D001927.
DR   MeSH; D003424.
DR   MeSH; D007153.
//
ID   Inflammatory demyelinating polyneuropathy.
AC   DI-01824
AR   IDP.
DE   Putative autoimmune disorder presenting in an acute (AIDP) or chronic
DE   form (CIDP). The acute form is also known as Guillain-Barre syndrome.
DR   MIM; 139393; phenotype.
DR   MedGen; C0018378.
DR   MedGen; C0393819.
DR   MedGen; C1841700.
//
ID   Inflammatory poikiloderma with hair abnormalities and acral keratoses.
AC   DI-06592
AR   IPHAK.
DE   An autosomal recessive disorder characterized by mottled hyper- and
DE   hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse
DE   or absent eyebrows, and palmoplantar keratoses.
DR   MIM; 620199; phenotype.
DR   MedGen; CN322829.
DR   MeSH; D012871.
//
ID   Inflammatory skin and bowel disease, neonatal, 1.
AC   DI-03306
AR   NISBD1.
DE   A disorder characterized by inflammatory features with neonatal onset,
DE   involving the skin, hair, and gut. The skin lesions involve perioral
DE   and perianal erythema, psoriasiform erythroderma, with flares of
DE   erythema, scaling, and widespread pustules. Gastrointestinal symptoms
DE   include malabsorptive diarrhea that is exacerbated by intercurrent
DE   gastrointestinal infections. The hair is short or broken, and the
DE   eyelashes and eyebrows are wiry and disorganized.
DR   MIM; 614328; phenotype.
DR   MedGen; C3280501.
DR   MeSH; D012873.
DR   MeSH; D015212.
//
ID   Inflammatory skin and bowel disease, neonatal, 2.
AC   DI-04271
AR   NISBD2.
DE   A disorder characterized by inflammatory features with neonatal onset,
DE   involving the skin, hair, and gut. The skin lesions involve perioral
DE   and perianal erythema, psoriasiform erythroderma, with flares of
DE   erythema, scaling, and widespread pustules. Gastrointestinal symptoms
DE   include malabsorptive diarrhea that is exacerbated by intercurrent
DE   gastrointestinal infections. The hair is short or broken, and the
DE   eyelashes and eyebrows are wiry and disorganized.
DR   MIM; 616069; phenotype.
DR   MedGen; CN220784.
DR   MeSH; D012873.
DR   MeSH; D015212.
//
ID   Inosine triphosphate pyrophosphohydrolase deficiency.
AC   DI-01825
AR   ITPAD.
DE   A common inherited condition characterized by the abnormal
DE   accumulation of inosine triphosphate in erythrocytes. It might have
DE   pharmacogenomic implications and be related to increased drug toxicity
DE   of purine analog drugs.
DR   MIM; 613850; phenotype.
DR   MedGen; C0342800.
DR   MedGen; C1840173.
DR   MeSH; D008661.
//
ID   Insulin-like growth factor 1 resistance.
AC   DI-02747
AR   IGF1RES.
DE   A disorder characterized by intrauterine growth retardation, poor
DE   postnatal growth and increased plasma IGF1 levels.
SY   End-organ insensitivity to somatomedin.
SY   IGF1 resistance.
SY   Resistance to insulin-like growth factor I.
SY   Resistance to somatomedin-C.
DR   MIM; 270450; phenotype.
DR   MedGen; C1849157.
DR   MedGen; C1849158.
DR   MeSH; D006130.
//
ID   Insulin-like growth factor I deficiency.
AC   DI-01827
AR   IGF1 deficiency.
DE   Autosomal recessive disorder characterized by growth retardation,
DE   sensorineural deafness and intellectual disability.
DR   MIM; 608747; phenotype.
DR   MedGen; C1837475.
//
ID   Insulin-resistant diabetes mellitus with acanthosis nigricans type A.
AC   DI-01828
AR   IRAN type A.
DE   Characterized by the association of severe insulin resistance
DE   (manifested by marked hyperinsulinemia and a failure to respond to
DE   exogenous insulin) with the skin lesion acanthosis nigricans and
DE   ovarian hyperandrogenism in adolescent female subjects. Women
DE   frequently present with hirsutism, acne, amenorrhea or oligomenorrhea,
DE   and virilization. This syndrome is different from the type B that has
DE   been demonstrated to be secondary to the presence of circulating
DE   autoantibodies against the insulin receptor.
DR   MIM; 610549; phenotype.
DR   MedGen; C0271690.
DR   MedGen; C0342278.
//
ID   Insulinomatosis and diabetes mellitus.
AC   DI-05201
AR   INSDM.
DE   An autosomal dominant disorder characterized by the occurrence of
DE   multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-
DE   dependent diabetes mellitus, and impaired glucose tolerance. Some
DE   patients also exhibit congenital cataract and/or congenital glaucoma.
SY   Islet cell adenomatosis.
DR   MIM; 147630; phenotype.
DR   MedGen; C1578917.
DR   MeSH; D007516.
KW   KW-0219:Diabetes mellitus.
//
ID   Intellectual developmental disorder and retinitis pigmentosa.
AC   DI-05391
AR   IDDRP.
DE   An autosomal recessive disease characterized by mild to moderate
DE   intellectual disability, retinitis pigmentosa, and attention-deficit
DE   hyperactivity disorder observed in some patients.
DR   MIM; 618195; phenotype.
DR   MedGen; CN257481.
DR   MeSH; D008607.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
AC   DI-05504
AR   IDDABS.
DE   An autosomal recessive disorder characterized by intellectual
DE   disability, developmental delay with poor or absent speech, short
DE   stature, progressive microcephaly, hyperactivity and aggressive
DE   behavior. Some patients manifest sensorineural hearing loss.
DR   MIM; 618342; phenotype.
DR   MedGen; CN258232.
DR   MeSH; D000015.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with autism and dysmorphic facies.
AC   DI-06496
AR   IDDADF.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   moderate to severe intellectual disability with autistic features,
DE   myopathy, and facial dysmorphism.
DR   MIM; 620021; phenotype.
DR   MedGen; CN315972.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder with autism and macrocephaly.
AC   DI-03675
AR   IDDAM.
DE   An autosomal dominant disorder characterized by impaired intellectual
DE   development, a highly penetrant autism spectrum phenotype, and
DE   macrocephaly. Other common features include tall stature,
DE   gastrointestinal symptoms, distinct facial features, sleep problems,
DE   and attention problems.
SY   Autism 18.
SY   AUTS18.
DR   MIM; 615032; phenotype.
DR   MedGen; C3554373.
DR   MedGen; CN164590.
DR   MeSH; D001321.
KW   KW-1269:Autism.
//
ID   Intellectual developmental disorder with autism and speech delay.
AC   DI-05442
AR   IDDAS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   varying degrees of intellectual disability, autism spectrum disorder,
DE   and language deficits.
SY   Autism 5.
SY   Autism-related speech delay.
SY   AUTS5.
SY   Phrase speech delay, autism-related.
DR   MIM; 606053; phenotype.
DR   MedGen; C1853755.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder with autistic features and language delay, with or without seizures.
AC   DI-05852
AR   IDDALDS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, varying degrees of intellectual
DE   disability, autism spectrum disorder, and delayed language. Some
DE   patients develop seizures.
DR   MIM; 618906; phenotype.
DR   MedGen; CN282600.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures.
AC   DI-05723
AR   IDDBCS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   impaired intellectual development, developmental delay of varying
DE   severity, impaired motor skills and language delay. Additional
DE   clinical features include macrocephaly, obesity, overgrowth,
DE   craniofacial dysmorphism, epilepsy, and variable behavioral
DE   manifestations including autism and attention deficit hyperactivity
DE   disorder.
SY   NEDMS.
SY   Neurodevelopmental disorder with macrocephaly and with or without seizures.
DR   MIM; 618725; phenotype.
DR   MedGen; CN263095.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with cardiac defects and dysmorphic facies.
AC   DI-05469
AR   IDDCDF.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, intellectual disability, congenital heart
DE   malformations, and facial dysmorphism. Dysmorphic features include
DE   triangular face, deep set eyes, broad nasal root and tip and
DE   anteverted nostrils, thick arched eye brows, hypertrichosis, pointed
DE   chin, and hypertelorism.
DR   MIM; 618316; phenotype.
DR   MedGen; CN258197.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.
AC   DI-05311
AR   IDDFBA.
DE   An autosomal dominant developmental disorder with variable
DE   manifestations and onset in infancy or first years of life. Clinical
DE   features include intellectual disability, speech delay, hyperkinetic
DE   disorder, hyperactivity, seizures, pre- and postnatal growth
DE   retardation, microcephaly, and facial dysmorphism.
DR   MIM; 618089; phenotype.
DR   MedGen; CN252702.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with dysmorphic facies and ptosis.
AC   DI-04946
AR   IDDDFP.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   delayed psychomotor development, intellectual disability, delayed
DE   language, and facial dysmorphisms, most notably ptosis. Additional
DE   features may include poor growth, hypotonia, and seizures.
DR   MIM; 617333; phenotype.
DR   MedGen; CN240506.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.
AC   DI-04997
AR   IDDFSDA.
DE   An autosomal recessive severe multisystem disorder characterized by
DE   poor overall growth, developmental delay, early-onset seizures,
DE   intellectual disability, and dysmorphic features. Additional features
DE   include microcephaly, absent speech, hypotonia, feeding difficulties,
DE   structural brain abnormalities, congenital malformations including
DE   congenital heart disease, and musculoskeletal features.
DR   MIM; 617452; phenotype.
DR   MedGen; CN243958.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies.
AC   DI-05919
AR   IDDEBF.
DE   An autosomal recessive neurodevelopmental disorder that manifests in
DE   early infancy with infantile spasms and developmental delay. Clinical
DE   features include severely impaired intellectual development, epilepsy,
DE   autism, hyperactivity and other behavioral problems, and coarse
DE   facies. Brain MRI findings may include delayed myelination in the deep
DE   parietal lobes.
DR   MIM; 619031; phenotype.
DR   MedGen; CN283365.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with hypertelorism and distinctive facies.
AC   DI-05352
AR   IDDHDF.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   developmental delay and intellectual disability, language defects, and
DE   distinctive facial dysmorphism including high hairline, hypertelorism,
DE   thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow
DE   jaw.
DR   MIM; 618147; phenotype.
DR   MedGen; CN257739.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with hypotonia and behavioral abnormalities.
AC   DI-05741
AR   IDDHBA.
DE   An autosomal dominant neurodevelopmental disorder with onset in
DE   infancy. IDDHBA is characterized by hypotonia, global developmental
DE   delay, learning disability, and behavioral abnormalities, such as
DE   autistic features and attention deficit-hyperactivity disorder.
DE   Additional variable features may include non-specific facial
DE   dysmorphism, congenital heart defects, ocular anomalies, and poor
DE   feeding.
DR   MIM; 618748; phenotype.
DR   MedGen; CN263213.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.
AC   DI-06250
AR   IDDHISD.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, impaired intellectual development, poor or absent speech,
DE   hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic
DE   features. Some affected individuals have seizures, and a few have
DE   involvement of other organ systems.
DR   MIM; 619556; phenotype.
DR   MedGen; CN300808.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with impaired language and dysmorphic facies.
AC   DI-05699
AR   IDDILF.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability, developmental delay, impaired language development, and
DE   dysmorphic features including telecanthus, epicanthus, arched eyebrows
DE   and low-set ears. Additional features include feeding difficulties,
DE   mild cardiac or genitourinary defects, and distal skeletal anomalies.
DR   MIM; 618653; phenotype.
DR   MedGen; CN262664.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism.
AC   DI-06447
AR   IDLDP.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay affecting motor, cognitive, and speech domains apparent in early
DE   childhood or infancy. Most patients also show movement abnormalities,
DE   often hypotonia with later development of dopa-responsive dystonia or
DE   parkinsonism. About half of patients develop various types of
DE   seizures.
DR   MIM; 619911; phenotype.
DR   MedGen; CN315592.
DR   MeSH; D065886.
KW   KW-0908:Parkinsonism.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Intellectual developmental disorder with language impairment and with or without autistic features.
AC   DI-02984
AR   MRLIAF.
DE   A developmental disorder characterized by mild to moderate
DE   intellectual disability, language impairment, and autistic features in
DE   some patients. Patients show global delay, delayed walking, severely
DE   delayed speech development, and behavioral abnormalities, including
DE   irritability, hyperactivity, aggression, and stereotypical rigid
DE   behaviors.
DR   MIM; 613670; phenotype.
DR   MedGen; C3150923.
DR   MeSH; D001321.
DR   MeSH; D007806.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
AC   DI-05360
AR   IDDMSSD.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   impaired intellectual development, poor speech, postnatal
DE   macrocephaly, and seizures.
DR   MIM; 618158; phenotype.
DR   MedGen; CN257751.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia.
AC   DI-00709
AR   MICPCH.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Affected
DE   individuals can manifest a severe phenotype consisting of severe
DE   intellectual deficit, congenital or postnatal microcephaly,
DE   disproportionate brainstem and cerebellar hypoplasia. A milder
DE   phenotype consists of intellectual disability alone or associated with
DE   nystagmus.
SY   Intellectual developmental disorder, X-linked, syndromic, Najm type.
SY   MICPCH syndrome.
SY   MRXSNA.
DR   MIM; 300749; phenotype.
DR   MedGen; C2677903.
DR   MedGen; C2749054.
DR   MedGen; C2749055.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.
AC   DI-04132
AR   IDDMOH.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   impaired intellectual development and microcephaly. Affected
DE   individuals may also have oculomotor apraxia, ocular malformations
DE   including coloboma, lens abnormalities and microphthalmia, and
DE   hypogonadotropic hypogonadism. Some patients may have finger
DE   clinodactyly and hypoplastic distal phalanges with nail hypoplasia,
DE   especially of the fifth digits.
SY   Coffin-Siris syndrome 9.
SY   CSS9.
SY   MRD27.
DR   MIM; 615866; phenotype.
DR   MedGen; CN189149.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects.
AC   DI-06485
AR   IDDMDS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, intellectual disability, distal deformities with diminished
DE   reflexes, visible facial myokymia, and distinctive electromyographic
DE   features suggestive of motor nerve instability.
DR   MIM; 620007; phenotype.
DR   MedGen; CN315960.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies.
AC   DI-05672
AR   IDNADFS.
DE   An autosomal dominant disorder characterized by delayed development,
DE   speech delay with nasal speech, and characteristic facial features
DE   including upslanted palpebral fissures, anteverted nares, a thin upper
DE   lip, and micrognathia. Some patients may have skeletal anomalies, such
DE   as brachydactyly, toe syndactyly and flat feet.
DR   MIM; 618608; phenotype.
DR   MedGen; CN262377.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with neuropsychiatric features.
AC   DI-05022
AR   IDDNPF.
DE   An autosomal recessive disorder characterized by moderate to severe
DE   intellectual disability, epilepsy, and variable neuropsychiatric
DE   features, such as anxiety, obsessive-compulsive behavior, and autistic
DE   features. Mild facial dysmorphism may also be present.
DR   MIM; 617532; phenotype.
DR   MedGen; CN277733.
DR   MeSH; D001523.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with ocular anomalies and distinctive facial features.
AC   DI-06532
AR   IDDOF.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, mild intellectual disability, ophthalmologic anomalies,
DE   microcephaly or relative microcephaly, hearing loss, and
DE   characteristic facial features including long, upslanting palpebral
DE   fissures, bitemporal narrowing of the forehead, arched eyebrows, and
DE   epicanthal folds.
DR   MIM; 620086; phenotype.
DR   MedGen; CN322328.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with or without epilepsy or cerebellar ataxia.
AC   DI-05291
AR   IDDECA.
DE   An autosomal dominant neurodevelopmental disorder that manifests with
DE   variable features of mild-to-severe intellectual disability,
DE   developmental delay, autism spectrum disorder, cerebellar ataxia and
DE   epilepsy.
DR   MIM; 618060; phenotype.
DR   MedGen; CN252646.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with or without peripheral neuropathy.
AC   DI-06400
AR   IDDPN.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay appearing in infancy or early childhood, intellectual
DE   disability, and progressive sensorimotor neuropathy with associated
DE   distal weakness. Affected individuals have hypotonia and delayed
DE   walking with an unsteady gait and frequent falls. Additional features
DE   may include dysarthria and subtle facial dysmorpism.
DR   MIM; 619844; phenotype.
DR   MedGen; CN312011.
DR   MeSH; D065886.
KW   KW-0622:Neuropathy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with paroxysmal dyskinesia or seizures.
AC   DI-06007
AR   IDDPADS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, language delay, and early-
DE   onset paroxysmal hyperkinetic movement disorder that manifests as
DE   sudden falls or backward propulsion, eye or head deviation, and
DE   dystonic limb posturing followed by chorea and dyskinetic movements.
DE   Some patients may also develop epileptic seizures or only have
DE   seizures without a movement disorder.
DR   MIM; 619150; phenotype.
DR   MedGen; CN295212.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with persistence of fetal hemoglobin.
AC   DI-04812
AR   IDPFH.
DE   An autosomal dominant disorder characterized by delayed psychomotor
DE   development, intellectual disability, variable dysmorphic features,
DE   including microcephaly, downslanting palpebral fissures, strabismus,
DE   and external ear abnormalities, and asymptomatic persistence of fetal
DE   hemoglobin.
SY   Dias-Logan syndrome.
SY   Intellectual developmental disorder with hereditary persistence of fetal hemoglobin.
DR   MIM; 617101; phenotype.
DR   MedGen; CN238097.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with poor growth and with or without seizures or ataxia.
AC   DI-05788
AR   IDPOGSA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent from infancy, impaired intellectual development,
DE   hypotonia, and poor overall growth with microcephaly. Additional
DE   variable features include dysmorphic features, cataracts, ataxia and
DE   seizures.
DR   MIM; 618808; phenotype.
DR   MedGen; CN263395.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with seizures and language delay.
AC   DI-05906
AR   IDDSELD.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   mild to profound intellectual development impairment, speech and
DE   language delay, and seizures. Autism and anxiety are common features.
DE   Facial dysmorphism, tapering fingers, and pigmentary skin changes may
DE   also be observed.
DR   MIM; 619000; phenotype.
DR   MedGen; CN283345.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with severe speech and ambulation defects.
AC   DI-05593
AR   IDDSSAD.
DE   An autosomal dominant neurodevelopmental disorder with onset in
DE   infancy, and characterized by global developmental delay, intellectual
DE   disability, ambulation deficits, severe language impairment, and minor
DE   dysmorphic features including a wide mouth, diastema, and bulbous
DE   nose. Additional manifestations are spasticity, hypotonia and autistic
DE   features including stereotypies. Brain imaging show thin corpus
DE   callosum, generalized atrophy, and mild periventricular gliosis.
DR   MIM; 618470; phenotype.
DR   MedGen; CN260165.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with short stature and behavioral abnormalities.
AC   DI-05712
AR   IDDSSBA.
DE   An autosomal recessive disorder with onset in infancy and
DE   characterized by intellectual disability, developmental delay, short
DE   stature, aphasia, and hypotonia. Additional features include seizures
DE   and behavioral abnormalities, such as inattention, hyperactivity and
DE   aggression.
DR   MIM; 618687; phenotype.
DR   MedGen; CN262929.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with short stature and variable skeletal anomalies.
AC   DI-05577
AR   IDDSSA.
DE   An autosomal recessive disorder characterized by severe intellectual
DE   disability, speech and language impairment, developmental delay, and
DE   cardiac, thyroid and skeletal abnormalities. Skeletal features include
DE   short stature, camptodactyly, fifth finger clinodactyly, thumb
DE   hypoplasia, overlapping toes, and kyphosis or lumbar vertebral
DE   abnormalities.
DR   MIM; 618453; phenotype.
DR   MedGen; CN258817.
DR   MeSH; D001848.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
AC   DI-05547
AR   IDDSFAS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, mildly to severely impaired intellectual development, delayed
DE   or slurred speech, and short stature. Dysmorphic features included a
DE   large bulbous nose and variable microretrognathia. Some patients show
DE   joint hyperlaxity and dislocations.
DR   MIM; 606220; phenotype.
DR   MedGen; C1853507.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with speech delay and axonal peripheral neuropathy.
AC   DI-05972
AR   IDDSAPN.
DE   An autosomal recessive disorder characterized by mild global
DE   developmental delay, mild to moderate intellectual disability, motor
DE   impairment, unsteady or ataxic gait, and severe speech delay apparent
DE   in the first years of life. Signs of a peripheral axonal neuropathy,
DE   including progressive distal muscle weakness and atrophy of the lower
DE   limbs, foot and hand deformities, and dysarthria, are observed in most
DE   patients. Some patients may have autistic features or attention
DE   deficit-hyperactivity disorder.
DR   MIM; 619099; phenotype.
DR   MedGen; CN293533.
DR   MeSH; D065886.
KW   KW-0622:Neuropathy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with speech delay and dysmorphic facies.
AC   DI-05618
AR   IDDSDF.
DE   An autosomal dominant disorder characterized by mild to severe
DE   intellectual disability, global developmental delay, mild but distinct
DE   facial dysmorphism, fifth finger clinodactyly, and small stature.
DE   Hypotonia, ventricular septal defect, and spastic quadriparesis may
DE   also be present.
SY   Coffin-Siris syndrome 10.
SY   CSS10.
DR   MIM; 618506; phenotype.
DR   MedGen; CN260602.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with speech delay, autism and dysmorphic facies.
AC   DI-05707
AR   IDDSADF.
DE   An autosomal dominant disorder characterized by mild to severe
DE   intellectual disability, developmental delay, delayed or absent
DE   speech, hypotonia, short stature, autistic features, and highly
DE   variable dysmorphic facial features.
DR   MIM; 618672; phenotype.
DR   MedGen; CN262923.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities.
AC   DI-05315
AR   IDDSFTA.
DE   An autosomal dominant developmental disorder with onset in first
DE   months of life, and characterized by delayed psychomotor development
DE   with intellectual disability and speech delay. Additional features
DE   include autistic features, attention deficit-hyperactivity disorder,
DE   anxiety, and other behavioral abnormalities. Some patients suffer from
DE   recurrent infections, asthma and allergies.
DR   MIM; 618092; phenotype.
DR   MedGen; CN253429.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 1.
AC   DI-00710
AR   MRD1.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 156200; phenotype.
DR   MedGen; C1969562.
DR   MedGen; C3277090.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 10.
AC   DI-03253
AR   MRD10.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 614256; phenotype.
DR   MedGen; C3280284.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 11.
AC   DI-03254
AR   MRD11.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 614257; phenotype.
DR   MedGen; C3280285.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 2.
AC   DI-03185
AR   MRD2.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 614113; phenotype.
DR   MedGen; C3279842.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 21.
AC   DI-03927
AR   MRD21.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Additional
DE   MRD21 features include short stature, microcephaly, and developmental
DE   delay.
DR   MIM; 615502; phenotype.
DR   MedGen; C3809686.
DR   MedGen; CN180640.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 22.
AC   DI-03970
AR   MRD22.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Additional
DE   MRD22 patients have limited or no speech, and variable but
DE   characteristic facial features, including round face, prominent
DE   forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-
DE   set ears. Other features may include hypotonia, poor growth,
DE   microcephaly, agenesis of the corpus callosum, and seizures.
DR   MIM; 612337; phenotype.
DR   MedGen; C2676727.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 23.
AC   DI-04067
AR   MRD23.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD23
DE   patients manifest moderate to severe intellectual disability with
DE   additional variable features of brachycephaly, a low hairline,
DE   depressed nasal bridge, prominent high nasal root, tubular nose,
DE   upslanting palpebral fissures, long and smooth philtrum, micrognathia,
DE   thin upper lip, and crowded teeth. Behavioral problems, including
DE   obsessive-compulsive disorder, hand flapping with ritualized behavior,
DE   and autism, are prominent features.
DR   MIM; 615761; phenotype.
DR   MedGen; C3810406.
DR   MedGen; CN186200.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1269:Autism.
//
ID   Intellectual developmental disorder, autosomal dominant 26.
AC   DI-04120
AR   MRD26.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Additional
DE   MRD26 features include autism, short stature, microcephaly, cerebral
DE   palsy, and facial dysmorphisms.
DR   MIM; 615834; phenotype.
DR   MedGen; CN188274.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1269:Autism.
//
ID   Intellectual developmental disorder, autosomal dominant 29.
AC   DI-04252
AR   MRD29.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD29
DE   patients manifest severe intellectual disability, behavioral
DE   difficulties, speech and motor delays, and dysmorphic facial features.
DR   MIM; 616078; phenotype.
DR   MedGen; CN220547.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 3.
AC   DI-00711
AR   MRD3.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 612580; phenotype.
DR   MedGen; C2675488.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities.
AC   DI-04257
AR   MRD30.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD30
DE   patients manifest intellectual disability, speech delay, and subtle
DE   facial dysmorphisms, including hypertelorism, ptosis, and a wide
DE   mouth. Behavioral abnormalities, including attention-deficit
DE   hyperactivity disorder, autistic features, and aggression are commonly
DE   observed.
DR   MIM; 616083; phenotype.
DR   MedGen; CN220924.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 33.
AC   DI-04391
AR   MRD33.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD33
DE   patients manifest microcephaly in addition to intellectual disability.
DR   MIM; 616311; phenotype.
DR   MedGen; CN229530.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 34.
AC   DI-04418
AR   MRD34.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 616351; phenotype.
DR   MedGen; CN230269.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 38.
AC   DI-04443
AR   MRD38.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD38 common
DE   features are severe intellectual disability, autistic behavior, absent
DE   speech, neonatal hypotonia, epilepsy and progressive microcephaly.
SY   PRELDS.
SY   Psychomotor retardation, epilepsy, and language disability syndrome.
DR   MIM; 616393; phenotype.
DR   MedGen; CN231146.
DR   MeSH; D008607.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, autosomal dominant 39.
AC   DI-04498
AR   MRD39.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD39
DE   patients show delayed psychomotor development and autistic features.
DR   MIM; 616521; phenotype.
DR   MedGen; CN232386.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, autosomal dominant 4.
AC   DI-00712
AR   MRD4.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 612581; phenotype.
DR   MedGen; C2675487.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 40.
AC   DI-04513
AR   MRD40.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 616579; phenotype.
DR   MedGen; CN233017.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 41.
AC   DI-04716
AR   MRD41.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD41
DE   patients manifest delayed psychomotor development, variable severity
DE   of intellectual disability, and delayed language. Non-specific
DE   dysmorphic features and autistic behavior is observed in some
DE   patients.
DR   MIM; 616944; phenotype.
DR   MedGen; C4310784.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 42.
AC   DI-04731
AR   MRD42.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD42
DE   patients manifest global developmental delay commonly accompanied by
DE   hypotonia, seizures of various types, ophthalmological manifestations,
DE   and poor growth.
DR   MIM; 616973; phenotype.
DR   MedGen; CN236792.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 43.
AC   DI-04747
AR   MRD43.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD43
DE   patients manifest developmental delay, intellectual disability,
DE   hypotonia, and dysmorphic features.
DR   MIM; 616977; phenotype.
DR   MedGen; CN236789.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 44, with microcephaly.
AC   DI-04798
AR   MRD44.
DE   A disorder characterized by developmental delay, variable intellectual
DE   disability, distinctive facial features, and abnormalities of the
DE   fingers. Most patients also have microcephaly.
DR   MIM; 617061; phenotype.
DR   MedGen; CN237804.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 45.
AC   DI-05061
AR   MRD45.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD45
DE   patients manifest developmental delay, variable intellectual
DE   disability, and behavioral disorders, including autistic features,
DE   attention deficit, and hyperactivity.
DR   MIM; 617600; phenotype.
DR   MedGen; CN368509.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 46.
AC   DI-05062
AR   MRD46.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD46
DE   patients manifest developmental delay and mild to moderate
DE   intellectual disability.
DR   MIM; 617601; phenotype.
DR   MedGen; CN371052.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 47.
AC   DI-05063
AR   MRD47.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD47
DE   patients manifest developmental delay and mild to moderate
DE   intellectual disability, usually with delayed speech.
DR   MIM; 617635; phenotype.
DR   MedGen; CN429988.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 48.
AC   DI-05131
AR   MRD48.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD48
DE   patients manifest global developmental delay and moderate to severe
DE   intellectual disability.
DR   MIM; 617751; phenotype.
DR   MedGen; CN580791.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 5.
AC   DI-00713
AR   MRD5.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD5 patients
DE   show global developmental delay with delayed motor development,
DE   hypotonia, moderate-to-severe intellectual disability, and severe
DE   language impairment. Epilepsy and autism can be present in some
DE   patients.
DR   MIM; 612621; phenotype.
DR   MedGen; C2675473.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities.
AC   DI-05151
AR   MRD50.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617787; phenotype.
DR   MedGen; CN671930.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 51.
AC   DI-05152
AR   MRD51.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617788; phenotype.
DR   MedGen; CN671931.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 52.
AC   DI-05153
AR   MRD52.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617796; phenotype.
DR   MedGen; CN671932.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 53.
AC   DI-05154
AR   MRD53.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617798; phenotype.
DR   MedGen; CN677078.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 54.
AC   DI-05155
AR   MRD54.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617799; phenotype.
DR   MedGen; CN679648.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 55, with seizures.
AC   DI-05178
AR   MRD55.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRD55 patients suffer from seizures
DE   appearing during the first years of life.
DR   MIM; 617831; phenotype.
DR   MedGen; CN757796.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 56.
AC   DI-05186
AR   MRD56.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period.
DR   MIM; 617854; phenotype.
DR   MedGen; CN787270.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 57.
AC   DI-05289
AR   MRD57.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD57 is
DE   characterized by delayed psychomotor development apparent in infancy
DE   or early childhood, and a variety of behavioral abnormalities.
DE   Affected individuals may have severe gastro-intestinal problems, and
DE   facial dysmorphism.
DR   MIM; 618050; phenotype.
DR   MedGen; CN252334.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 58.
AC   DI-05326
AR   MRD58.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD58
DE   patients show delayed development, intellectual disability, language
DE   delay and speech impairment. Some patients have motor delay or
DE   incoordination, and minor dysmorphic features.
DR   MIM; 618106; phenotype.
DR   MedGen; CN253713.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 59.
AC   DI-05622
AR   MRD59.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period.
DR   MIM; 618522; phenotype.
DR   MedGen; CN262170.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 6, with or without seizures.
AC   DI-03128
AR   MRD6.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRD6
DE   additional features may include seizures, hypotonia, abnormal
DE   movements, such as dystonia, and autistic features.
DR   MIM; 613970; phenotype.
DR   MedGen; C3151411.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 60, with seizures.
AC   DI-05662
AR   MRD60.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay apparent in the first six months of life, followed by onset of
DE   seizures between 21 months and 4 years. Disease features include
DE   moderate-to-severe intellectual disability, poor speech, delayed
DE   walking, and ataxia.
DR   MIM; 618587; phenotype.
DR   MedGen; CN262318.
DR   MeSH; D008607.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 61.
AC   DI-05748
AR   MRD61.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period. MRD61 is characterized by
DE   global developmental delay apparent in infancy with mildly impaired
DE   intellectual development, expressive speech delay, and behavioral
DE   abnormalities, including autism spectrum disorder and attention
DE   deficit-hyperactivity disorder. Additional features are highly
DE   variable and may include non-specific dysmorphic features,
DE   obstipation, ocular anomalies, and poor overall growth.
DR   MIM; 618009; phenotype.
DR   MedGen; CN263231.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 62.
AC   DI-05770
AR   MRD62.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period. MRD62 is characterized by
DE   mild to moderately impaired intellectual development.
DR   MIM; 618793; phenotype.
DR   MedGen; CN263332.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 63, with macrocephaly.
AC   DI-05777
AR   MRD63.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period. MRD63 is characterized by
DE   moderate to severe impaired intellectual development with poor or
DE   absent speech, global developmental delay, and variable behavioral
DE   abnormalities. Variable dysmorphic features are preset in half of the
DE   patients.
DR   MIM; 618825; phenotype.
DR   MedGen; CN263464.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 64.
AC   DI-06050
AR   MRD64.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period. MRD64 is characterized by
DE   mildly to severely impaired intellectual development, speech delay,
DE   and autism spectrum disorder in most patients. Additional variable
DE   features may include motor delay, attention deficit-hyperactivity
DE   disorder, and non-specific dysmorphic features.
DR   MIM; 619188; phenotype.
DR   MedGen; CN295315.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, autosomal dominant 65.
AC   DI-06105
AR   MRD65.
DE   An autosomal dominant form of intellectual disability, a disorder
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period. MRD65 is characterized by
DE   delayed motor and speech acquisition, variably impaired intellectual
DE   development, behavioral abnormalities, and dysmorphic facial features.
DE   Additional variable features include feeding difficulties, hypotonia,
DE   and seizures.
DR   MIM; 619320; phenotype.
DR   MedGen; CN296787.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 66.
AC   DI-06443
AR   MRD66.
DE   An autosomal dominant disorder characterized by mild to moderate
DE   global development delay, impaired intellectual development, and
DE   speech delay. Additional common symptoms include autism, seizures, and
DE   distal limb abnormalities. Disease severity is highly variable.
DR   MIM; 619910; phenotype.
DR   MedGen; CN315590.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 67.
AC   DI-06444
AR   MRD67.
DE   An autosomal dominant disorder characterized by global development
DE   delay and impaired intellectual development apparent from infancy or
DE   early childhood. Additional features may include behavioral
DE   abnormalities, and language and sleeping difficulties.
DR   MIM; 619927; phenotype.
DR   MedGen; CN315598.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 68.
AC   DI-06462
AR   MRD68.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   intellectual disability, microcephaly, poor growth, feeding
DE   difficulties, and dysmorphic features. Some patients may have autism
DE   spectrum disorder or attention deficit-hyperactivity disorder.
DR   MIM; 619934; phenotype.
DR   MedGen; CN315798.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 69.
AC   DI-06461
AR   MRD69.
DE   An autosomal dominant disorder characterized by developmental delay
DE   and variably impaired intellectual development. Additional features
DE   may include intention tremor in infancy and seizures in childhood,
DE   with remission of these in adolescence.
DR   MIM; 617863; phenotype.
DR   MedGen; CN315797.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 7.
AC   DI-03186
AR   MRD7.
DE   A disease characterized by primary microcephaly, severe intellectual
DE   disability without speech, anxious autistic behavior, and dysmorphic
DE   features, including bitemporal narrowing, deep-set eyes, large simple
DE   ears, and a pointed nasal tip. Intellectual disability is
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period.
DR   MIM; 614104; phenotype.
DR   MedGen; C3279839.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 70.
AC   DI-06565
AR   MRD70.
DE   An autosomal dominant disorder characterized by mild global
DE   developmental delay, moderately impaired intellectual disability with
DE   speech difficulties, and behavioral abnormalities.
DR   MIM; 620157; phenotype.
DR   MedGen; CN322641.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities.
AC   DI-06659
AR   MRD71.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia, speech delay, and impaired
DE   intellectual development. Most patients manifest neurobehavioral
DE   features including autism spectrum disorder and attention-
DE   deficit/hyperactivity disorder. Other frequent features include
DE   hypersensitivity to sensory stimuli and sleep problems.
DR   MIM; 620330; phenotype.
DR   MedGen; CN327018.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, autosomal dominant 72.
AC   DI-06715
AR   MRD72.
DE   An autosomal dominant disorder characterized by mild developmental
DE   delay and intellectual disability, predominant speech delay, autistic
DE   or attention-deficit hyperactivity disorder features,
DE   overfriendliness, generalized hypotonia, overweight, and dysmorphic
DE   facial features.
DR   MIM; 620439; phenotype.
DR   MedGen; CN372259.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, autosomal dominant 73.
AC   DI-06716
AR   MRD73.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability ranging from mild to severe, developmental delay, speech
DE   delay, behavioral abnormalities, and non-specific dysmorphic facial
DE   features.
SY   T4ND.
SY   TAF4-related NDD.
SY   TAF4-related neurodevelopmental disorder.
DR   MIM; 620450; phenotype.
DR   MedGen; CN372452.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 1.
AC   DI-00714
AR   MRT1.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 249500; phenotype.
DR   MedGen; C1855304.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 12.
AC   DI-03255
AR   MRT12.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 611090; phenotype.
DR   MedGen; C1970200.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 13.
AC   DI-02585
AR   MRT13.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Brain
DE   magnetic resonance imaging of MRT13 patients indicates the presence of
DE   mild cerebral white matter hypoplasia. Microcephaly is present in some
DE   but not all affected individuals.
DR   MIM; 613192; phenotype.
DR   MedGen; C2750791.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 14.
AC   DI-03192
AR   MRT14.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 614020; phenotype.
DR   MedGen; C3151462.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy.
AC   DI-03250
AR   MRT18.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
SY   Intellectual developmental disorder, autosomal recessive 18.
DR   MIM; 614249; phenotype.
DR   MedGen; C3280265.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 2.
AC   DI-00715
AR   MRT2.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT2 patients
DE   display mild intellectual disability with a standard IQ ranged from 50
DE   to 70. IQ scores are lower in males than females. Developmental
DE   milestones are mildly delayed. There are no dysmorphic or autistic
DE   features.
SY   MRT2A.
DR   MIM; 607417; phenotype.
DR   MedGen; C1843942.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 27.
AC   DI-04059
AR   MRT27.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 614340; phenotype.
DR   MedGen; C3280538.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 3.
AC   DI-00716
AR   MRT3.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 608443; phenotype.
DR   MedGen; C1838023.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly.
AC   DI-03395
AR   MRT34.
DE   A disorder characterized by mild to moderate intellectual disability,
DE   megalencephaly or enlarged head circumference, and a mild variant of
DE   lissencephaly with anterior-predominant pachygyria with shallow and
DE   unusually wide sulci and mildly thickened cortex. Some patients may
DE   have seizures.
DR   MIM; 614499; phenotype.
DR   MedGen; C3281044.
DR   MeSH; D008607.
KW   KW-0451:Lissencephaly.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 37.
AC   DI-03943
AR   MRT37.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT37
DE   patients manifest delayed global development with speech delay,
DE   hypotonia, spasticity, and a sleep disorder. Severe behavioral
DE   abnormalities include aggression, hyperactivity, and grinding of the
DE   teeth.
DR   MIM; 615493; phenotype.
DR   MedGen; C3809672.
DR   MedGen; CN181196.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 38.
AC   DI-03939
AR   MRT38.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT38 is
DE   characterized by global developmental delay affecting motor, speech,
DE   adaptive, and social development. Patients manifest autistic features,
DE   aggression, self-injury, impulsivity, and distractibility.
DR   MIM; 615516; phenotype.
DR   MedGen; C3809753.
DR   MedGen; CN181335.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 39.
AC   DI-03963
AR   MRT39.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT39
DE   affected individuals show delayed psychomotor development, severe
DE   speech delay, short stature, kyphoscoliosis, and dysmorphic facial
DE   features. Behavioral abnormalities include hyperactivity, aggression,
DE   and stereotypic movements.
DR   MIM; 615541; phenotype.
DR   MedGen; C3809853.
DR   MedGen; CN181764.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 41.
AC   DI-04038
AR   MRT41.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT41 most
DE   consistent features are global developmental delay, macrocephaly with
DE   frontal bossing, high levels of anxiety, and some features suggestive
DE   of a pervasive developmental disorder. Less common features include
DE   fifth finger clinodactyly, recurrent pneumonia, and
DE   hepatosplenomegaly.
DR   MIM; 615637; phenotype.
DR   MedGen; C3810225.
DR   MedGen; CN184651.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 43.
AC   DI-04069
AR   MRT43.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 615817; phenotype.
DR   MedGen; CN188213.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 44.
AC   DI-04192
AR   MRT44.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT44
DE   manifestations include mild to severe cognitive impairment, delayed
DE   psychomotor development, seizures in some patients, and dysmorphic
DE   features.
DR   MIM; 615942; phenotype.
DR   MedGen; CN207815.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 45.
AC   DI-04220
AR   MRT45.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT45
DE   manifestations include mild to moderate intellectual disability and
DE   dysmorphic features, including coarse facies, broad nasal bridge,
DE   fleshy nares, and thick, prominent lips.
DR   MIM; 615979; phenotype.
DR   MedGen; CN219207.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 46.
AC   DI-04283
AR   MRT46.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT46
DE   manifestations include delayed psychomotor development apparent from
DE   infancy or early childhood, delayed or absent expressive speech,
DE   hypotonia, and therapy-responsive seizures in some patients.
DE   Behavioral abnormalities are variable and include aggression, self-
DE   injurious behavior, and sleep disturbances.
DR   MIM; 616116; phenotype.
DR   MedGen; CN221666.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 47.
AC   DI-04311
AR   MRT47.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT47
DE   patients show delayed development, with cognition and speech more
DE   affected than motor skills.
DR   MIM; 616193; phenotype.
DR   MedGen; CN225186.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 48.
AC   DI-04357
AR   MRT48.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT48
DE   patients show moderate to severe intellectual disability and
DE   additional features including progressive tremor, speech impairment,
DE   and sometimes behavioral problems.
DR   MIM; 616269; phenotype.
DR   MedGen; CN228596.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 5.
AC   DI-03476
AR   MRT5.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 611091; phenotype.
DR   MedGen; C1970199.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 50.
AC   DI-04481
AR   MRT50.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT50
DE   patients show mild intellectual disability and microcephaly.
DR   MIM; 616460; phenotype.
DR   MedGen; CN231449.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 51.
AC   DI-04633
AR   MRT51.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 616739; phenotype.
DR   MedGen; CN234875.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 52.
AC   DI-04697
AR   MRT52.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT52
DE   clinical features include global developmental delay, severe
DE   intellectual disability with poor speech, and mild seizures in early
DE   childhood.
DR   MIM; 616887; phenotype.
DR   MedGen; CN235883.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 54.
AC   DI-04760
AR   MRT54.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT54
DE   patients manifest intellectual disability, delayed speech and
DE   hyperactivity.
DR   MIM; 617028; phenotype.
DR   MedGen; CN237400.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 56.
AC   DI-04823
AR   MRT56.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617125; phenotype.
DR   MedGen; CN238502.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 57.
AC   DI-04875
AR   MRT57.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT57
DE   patients have moderate to severe intellectual disability, and delayed
DE   psychomotor development with poor or absent speech. Some patients
DE   manifest seizures and autistic features.
DR   MIM; 617188; phenotype.
DR   MedGen; CN239056.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 58.
AC   DI-04902
AR   MRT58.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT58
DE   transmission pattern is consistent with autosomal recessive
DE   inheritance.
DR   MIM; 617270; phenotype.
DR   MedGen; CN239931.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 59.
AC   DI-04942
AR   MRT59.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 617323; phenotype.
DR   MedGen; CN240390.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 6.
AC   DI-01245
AR   MRT6.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT6 patients
DE   display mild to severe intellectual disability and psychomotor
DE   development delay in early childhood. Patients do not have neurologic
DE   problems, congenital malformations, or facial dysmorphism. Body
DE   height, weight, and head circumference are normal.
DR   MIM; 611092; phenotype.
DR   MedGen; C1970198.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 60.
AC   DI-04989
AR   MRT60.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT60
DE   patients display mild intellectual disability, delayed psychomotor
DE   development, learning difficulties, and poor overall growth with
DE   variable microcephaly.
DR   MIM; 617432; phenotype.
DR   MedGen; CN241846.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 61.
AC   DI-05133
AR   MRT61.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT61
DE   patients manifest delayed psychomotor development, moderate to severe
DE   intellectual disability, and variable dysmorphic facial features.
DE   Refractory seizures and brain abnormalities are present in severely
DE   affected patients.
SY   Alwadei syndrome.
DR   MIM; 617773; phenotype.
DR   MedGen; CN651335.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 63.
AC   DI-05317
AR   MRT63.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT63
DE   patients manifest global developmental delay, severe intellectual
DE   disability, and seizures.
DR   MIM; 618095; phenotype.
DR   MedGen; CN253430.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 64.
AC   DI-05318
AR   MRT64.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT64
DE   patients have moderate to severe intellectual disability, delayed
DE   motor development, aggressive behavior, and slurred or absent speech.
DR   MIM; 618103; phenotype.
DR   MedGen; CN253431.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 65.
AC   DI-05327
AR   MRT65.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT65
DE   patients have moderate to severe intellectual disability,
DE   developmental delay, and facial dysmorphism. Camptodactyly is present
DE   in some patients.
DR   MIM; 618109; phenotype.
DR   MedGen; CN253823.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 66.
AC   DI-05434
AR   MRT66.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRT66
DE   patients have intellectual disability, delayed speech development,
DE   neuropsychiatric symptoms, and relatively normal life span.
DR   MIM; 618221; phenotype.
DR   MedGen; CN257495.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 67.
AC   DI-05459
AR   MRT67.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Some MRT67 patients manifest seizures and
DE   sensorineural hearing loss.
DR   MIM; 618295; phenotype.
DR   MedGen; CN258146.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 68.
AC   DI-05452
AR   MRT68.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period.
DR   MIM; 618302; phenotype.
DR   MedGen; CN258166.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 69.
AC   DI-05523
AR   MRT69.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period.
DR   MIM; 618383; phenotype.
DR   MedGen; CN258276.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 7.
AC   DI-00717
AR   MRT7.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
SY   MRT22.
DR   MIM; 611093; phenotype.
DR   MedGen; C1970197.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 70.
AC   DI-05524
AR   MRT70.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRT70 patients manifest impaired
DE   intellectual development, mild facial dysmorphism, febrile seizures,
DE   and behavioral abnormalities.
DR   MIM; 618402; phenotype.
DR   MedGen; CN258336.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 71.
AC   DI-05617
AR   MRT71.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRT71 features include impaired intellectual
DE   development, global developmental delay, mildly delayed walking, poor
DE   language, seizures in the first years of life, and behavioral
DE   abnormalities.
DR   MIM; 618504; phenotype.
DR   MedGen; CN260726.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 72.
AC   DI-05705
AR   MRT72.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRT72 patients manifest moderate to severe
DE   intellectual disability, microcephaly, and dysmorphic facial features.
DR   MIM; 618665; phenotype.
DR   MedGen; CN262875.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 73.
AC   DI-06320
AR   MRT73.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRT73 patients manifest global developmental
DE   delay with hypotonia and mildly delayed walking, impaired intellectual
DE   development with poor or absent speech, and mildly dysmorphic
DE   features.
DR   MIM; 619717; phenotype.
DR   MedGen; CN306203.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 74.
AC   DI-04855
AR   MRT74.
DE   A disorder characterized by intellectual impairment, macrocephaly, and
DE   dysmorphic features. Epilepsy with eyelid myoclonus has also been
DE   reported.
SY   SOTOS3.
SY   Sotos syndrome 3.
DR   MIM; 617169; phenotype.
DR   MedGen; CN238798.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly.
AC   DI-06393
AR   MRT75.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent from infancy or early childhood, impaired intellectual
DE   development, and behavioral and psychiatric abnormalities. Some
DE   patients present seizures and facial dysmorphism. Brain imaging often
DE   shows cortical anomalies.
DR   MIM; 619827; phenotype.
DR   MedGen; CN311634.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 76.
AC   DI-06445
AR   MRT76.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, severely impaired intellectual development, absent speech,
DE   seizures, sleep disturbances, and feeding difficulties.
DR   MIM; 619931; phenotype.
DR   MedGen; CN315599.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 77.
AC   DI-06477
AR   MRT77.
DE   An autosomal recessive neurodevelopmental disorder apparent from
DE   infancy and characterized by global developmental delay, variably
DE   impaired cognitive development, delayed walking, and poor speech in
DE   some cases.
DR   MIM; 619988; phenotype.
DR   MedGen; CN315937.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 78.
AC   DI-06604
AR   MRT78.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   usually mild intellectual disability, microcephaly, and short stature.
DE   Additional features may include ocular abnormalities and mild skeletal
DE   defects.
DR   MIM; 620237; phenotype.
DR   MedGen; CN323272.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, autosomal recessive 79.
AC   DI-06682
AR   MRT79.
DE   An autosomal recessive neurodevelopmental disorder apparent from
DE   infancy and characterized by global developmental delay, severe
DE   intellectual disability, poor or absent speech, ataxia, and postnatal
DE   microcephaly.
DR   MIM; 620393; phenotype.
DR   MedGen; CN371899.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, FRA12A type.
AC   DI-06375
AR   IDDFR12A.
DE   An autosomal dominant disorder characterized by impaired intellectual
DE   development with or without other anomalies, in association with a
DE   folate-sensitive chromosomal fragile site at 12q13. Main features are
DE   global developmental delay, significant learning disability, epileptic
DE   seizures, and behavioral problems. The disorder can be inherited
DE   without phenotypic effects.
SY   Intellectual developmental disorder, autosomal dominant, FRA12A type.
DR   MIM; 136630; phenotype.
DR   MedGen; C1969893.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 1.
AC   DI-02789
AR   XLID1.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations.
SY   MRX1.
SY   MRX18.
SY   MRX78.
DR   MIM; 309530; phenotype.
DR   MedGen; C2931498.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 100.
AC   DI-04156
AR   XLID100.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations. XLID100 clinical
DE   features include intellectual disability, epilepsy, microcephaly and
DE   cortical malformations.
SY   MRX100.
DR   MIM; 300923; phenotype.
DR   MedGen; CN197010.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 101.
AC   DI-04186
AR   XLID101.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations. XLID101 clinical
DE   features include global developmental delay, hyperactivity often with
DE   aggressive outbursts, and seizures in some patients. Several affected
DE   individuals have long face, prominent ears, and squint or strabismus.
SY   MRX101.
DR   MIM; 300928; phenotype.
DR   MedGen; CN207618.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 103.
AC   DI-04814
AR   XLID103.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX103.
DR   MIM; 300982; phenotype.
DR   MedGen; CN238512.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 104.
AC   DI-04815
AR   XLID104.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX104.
DR   MIM; 300983; phenotype.
DR   MedGen; CN238519.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 105.
AC   DI-04816
AR   XLID105.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX105.
DR   MIM; 300984; phenotype.
DR   MedGen; CN238520.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 106.
AC   DI-05009
AR   XLID106.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX106.
DR   MIM; 300997; phenotype.
DR   MedGen; CN270121.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 107.
AC   DI-05198
AR   XLID107.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX107.
DR   MIM; 301013; phenotype.
DR   MedGen; CN244560.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 108.
AC   DI-05522
AR   MRX108.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
DR   MIM; 301024; phenotype.
DR   MedGen; CN258272.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 109.
AC   DI-01629
AR   XLID109.
DE   A form of mild to moderate intellectual disability associated with
DE   learning difficulties, communication deficits, attention problems,
DE   hyperactivity, and autistic behavior. It is associated with a fragile
DE   site on chromosome Xq28. Intellectual disability is characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period.
SY   MRX109.
DR   MIM; 309548; phenotype.
DR   MedGen; C0751157.
DR   MedGen; C2752082.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 110.
AC   DI-06576
AR   XLID110.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 301095; phenotype.
DR   MedGen; CN322943.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 111.
AC   DI-06670
AR   XLID111.
DE   A neurodevelopmental disorder characterized by moderate to severe
DE   intellectual disability, delayed development, speech delay, and
DE   neuropsychiatric and behavioral problems such as anxiety, attention
DE   deficit-hyperactivity disorder and autism spectrum disorder.
DR   MIM; 301107; phenotype.
DR   MedGen; CN327048.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 112.
AC   DI-06714
AR   XLID112.
DE   A neurodevelopmental disorder characterized by developmental delay,
DE   impaired intellectual development, language and motor delay, autism or
DE   autistic traits, and variable dysmorphic features.
DR   MIM; 301111; phenotype.
DR   MedGen; CN372342.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1269:Autism.
//
ID   Intellectual developmental disorder, X-linked 12.
AC   DI-04511
AR   XLID12.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations. XLID12 patients manifest variable degrees of
DE   intellectual disability. Commonly observed features included speech
DE   delay, elevated BMI, short stature, seizure disorders, gait
DE   disturbance, and tremors.
SY   MRX12.
SY   MRX35.
DR   MIM; 300957; phenotype.
DR   MedGen; CN232398.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 19.
AC   DI-03127
AR   XLID19.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
SY   MRX19.
SY   MRX31.
DR   MIM; 300844; phenotype.
DR   MedGen; C0796225.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 21.
AC   DI-00726
AR   XLID21.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic intellectual disability presents with
DE   associated physical, neurological and/or psychiatric manifestations.
SY   MRX21.
SY   MRX34.
DR   MIM; 300143; phenotype.
DR   MedGen; C0796227.
DR   MedGen; C0796241.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 29.
AC   DI-00724
AR   XLID29.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic intellectual disability presents with
DE   associated physical, neurological and/or psychiatric manifestations.
SY   MRX29.
SY   MRX32.
SY   MRX33.
SY   MRX38.
SY   MRX43.
SY   MRX52.
SY   MRX54.
SY   MRX76.
SY   MRX87.
DR   MIM; 300419; phenotype.
DR   MedGen; C0796244.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 30.
AC   DI-00727
AR   XLID30.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic intellectual disability presents with
DE   associated physical, neurological and/or psychiatric manifestations.
SY   MRX30.
SY   MRX47.
DR   MIM; 300558; phenotype.
DR   MedGen; C0796237.
DR   MedGen; C0796249.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 41.
AC   DI-00728
AR   XLID41.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations.
SY   MRX41.
SY   MRX48.
DR   MIM; 300849; phenotype.
DR   MedGen; CN069590.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 45.
AC   DI-00730
AR   MRX45.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300498; phenotype.
DR   MedGen; C1845333.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 46.
AC   DI-00731
AR   MRX46.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300436; phenotype.
DR   MedGen; C1845526.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 50.
AC   DI-06017
AR   XLID50.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. Intellectual deficiency is the only primary
DE   symptom of non-syndromic X-linked forms, while syndromic forms present
DE   with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX50.
DR   MIM; 300115; phenotype.
DR   MedGen; C1848087.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 58.
AC   DI-00733
AR   XLID58.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   intellectual disability, while syndromic intellectual disability
DE   presents with associated physical, neurological and/or psychiatric
DE   manifestations.
SY   MRX58.
DR   MIM; 300210; phenotype.
DR   MedGen; C1846174.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 63.
AC   DI-00734
AR   XLID63.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   intellectual disability, while syndromic forms presents with
DE   associated physical, neurological and/or psychiatric manifestations.
SY   MRX63.
SY   MRX68.
DR   MIM; 300387; phenotype.
DR   MedGen; C1845672.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 72.
AC   DI-02586
AR   XLID72.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations. XLID72 patients can
DE   manifest autism spectrum disorder, seizures and macrocephaly as
DE   additional features.
SY   MRX72.
DR   MIM; 300271; phenotype.
DR   MedGen; C1846038.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Intellectual developmental disorder, X-linked 88.
AC   DI-03180
AR   MRX88.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300852; phenotype.
DR   MedGen; C3275444.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 89.
AC   DI-00735
AR   MRX89.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300848; phenotype.
DR   MedGen; C1839082.
DR   MedGen; CN069343.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 9.
AC   DI-00729
AR   XLID9.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations.
SY   MRX44.
SY   MRX9.
DR   MIM; 309549; phenotype.
DR   MedGen; C0796215.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 90.
AC   DI-00736
AR   XLID90.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   intellectual disability, while syndromic forms presents with
DE   associated physical, neurological and/or psychiatric manifestations.
SY   MRX90.
DR   MIM; 300850; phenotype.
DR   MedGen; C3275443.
DR   MedGen; CN069586.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 91.
AC   DI-00737
AR   MRX91.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300577; phenotype.
DR   MedGen; C1845142.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 92.
AC   DI-00738
AR   MRX92.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300851; phenotype.
DR   MedGen; C1845144.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 93.
AC   DI-01967
AR   XLID93.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations. XLID93 is associated
DE   with macrocephaly.
SY   MRX93.
DR   MIM; 300659; phenotype.
DR   MedGen; C1970841.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 95.
AC   DI-00740
AR   MRX95.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
DR   MIM; 300716; phenotype.
DR   MedGen; C2678034.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 96.
AC   DI-02522
AR   XLID96.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
SY   MRX96.
DR   MIM; 300802; phenotype.
DR   MedGen; C2749021.
DR   MedGen; C3275408.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 97.
AC   DI-02523
AR   XLID97.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period.
SY   MRX65.
SY   MRX97.
SY   MRXZ.
DR   MIM; 300803; phenotype.
DR   MedGen; C2749020.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 98.
AC   DI-03949
AR   XLID98.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. XLID98
DE   patients show delayed psychomotor development, absent or poor speech
DE   development, and postnatal growth retardation, often with
DE   microcephaly. Some patients show autistic behavioral features, such as
DE   stereotypic hand movements and repetitive behaviors. Additional, more
DE   variable features include spasticity, axial hypotonia, seizures,
DE   drooling, gastroesophageal reflux, and lack of sphincter control.
SY   MRX98.
DR   MIM; 300912; phenotype.
DR   MedGen; C3806730.
DR   MedGen; CN181444.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 99.
AC   DI-04101
AR   XLID99.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Intellectual
DE   deficiency is the only primary symptom of non-syndromic X-linked
DE   forms, while syndromic forms present with associated physical,
DE   neurological and/or psychiatric manifestations.
SY   MRX99.
DR   MIM; 300919; phenotype.
DR   MedGen; C3806746.
DR   MedGen; CN186197.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked 99, syndromic, female-restricted.
AC   DI-04666
AR   MRXS99F.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning,
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRXS99F affected females manifest
DE   intellectual disability, developmental delay, facial dysmorphism,
DE   short stature, and distinct congenital malformations comprising
DE   choanal atresia, anal abnormalities, post-axial polydactyly, heart
DE   defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis,
DE   and structural brain abnormalities. Inheritance is X-linked dominant.
DR   MIM; 300968; phenotype.
DR   MedGen; CN235381.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 11.
AC   DI-04582
AR   MRXS11.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXS11
DE   patients manifest moderate intellectual disability and craniofacial
DE   dysmorphism.
SY   Intellectual developmental disorder, syndromic 11, Shashi type.
SY   SMRXS.
DR   MIM; 300238; phenotype.
DR   MedGen; C1846145.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 13.
AC   DI-00722
AR   MRXS13.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXS13
DE   patients manifest intellectual disability associated with other
DE   variable features such as spasticity, episodes of manic depressive
DE   psychosis, increased tone and macroorchidism.
SY   MRX16.
SY   MRX79.
SY   MRXPPM.
SY   PPMX.
DR   MIM; 300055; phenotype.
DR   MedGen; C0796222.
DR   MedGen; C1848211.
DR   MedGen; C1968550.
DR   MedGen; C1968551.
DR   MedGen; C1968552.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 14.
AC   DI-02460
AR   MRXS14.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXS14
DE   patients manifest intellectual disability associated with other
DE   variable signs such as autistic features, slender build, poor
DE   musculature, long, thin face, high-arched palate, high nasal bridge,
DE   and pectus deformities.
DR   MIM; 300676; phenotype.
DR   MedGen; C1970822.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 28.
AC   DI-00053
AR   MRXS28.
DE   An intellectual disability syndrome characterized by agenesis of the
DE   corpus callosum, coloboma of the iris and optic nerve, severe
DE   retrognathia, and intellectual deficit. Intellectual disability is
DE   defined by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period.
SY   Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia.
DR   MIM; 300472; phenotype.
DR   MedGen; C1845446.
DR   MeSH; D038901.
DR   MeSH; D061085.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 32.
AC   DI-03627
AR   MRXS32.
DE   A syndrome characterized by profound intellectual deficit, delayed
DE   psychomotor development beginning in infancy and little or no speech
DE   development. Additional features include seizures, large joint
DE   contractures, and abnormal positioning of the thumbs.
DR   MIM; 300886; phenotype.
DR   MedGen; C3550913.
DR   MedGen; CN162963.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 33.
AC   DI-04617
AR   MRXS33.
DE   A syndrome characterized by intellectual deficit, delayed psychomotor
DE   development, delayed speech and language, and characteristic facial
DE   features.
DR   MIM; 300966; phenotype.
DR   MedGen; CN234868.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 34.
AC   DI-04618
AR   MRXS34.
DE   A syndrome characterized by intellectual deficit, delayed psychomotor
DE   development, poor speech, and dysmorphic features.
SY   MRXSML.
DR   MIM; 300967; phenotype.
DR   MedGen; CN235309.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic 35.
AC   DI-05030
AR   MRXS35.
DE   A syndrome characterized by intellectual deficit, delayed psychomotor
DE   development, poor speech, and dysmorphic features.
DR   MIM; 300998; phenotype.
DR   MedGen; CN298079.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Armfield type.
AC   DI-05903
AR   MRXSA.
DE   An X-linked recessive disorder characterized by global developmental
DE   delay with impaired intellectual development, walking difficulties and
DE   poor or absent speech. Affected individuals display a distinctive
DE   phenotype characterized by postnatal growth retardation, variable head
DE   circumference with a prominent forehead and dysmorphic facial
DE   features, ocular abnormalities, and seizures.
DR   MIM; 300261; phenotype.
DR   MedGen; C1846057.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Bain type.
AC   DI-04850
AR   MRXSB.
DE   A form of intellectual disability, a disorder characterized by
DE   significantly below average general intellectual functioning
DE   associated with impairments in adaptive behavior and manifested during
DE   the developmental period. MRXSB patients manifest developmental delay,
DE   intellectual disability, autism, hypotonia, seizures, and dysmorphic
DE   facial features. Only females are affected.
DR   MIM; 300986; phenotype.
DR   MedGen; CN238685.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Billuart type.
AC   DI-00719
AR   MRXSBL.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSBL
DE   patients manifest intellectual disability associated with cerebellar
DE   hypoplasia and distinctive facial dysmorphism.
SY   MRX60.
DR   MIM; 300486; phenotype.
DR   MedGen; C1845366.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Cabezas type.
AC   DI-01309
AR   MRXSC.
DE   A syndromic form of X-linked intellectual disability characterized by
DE   severe intellectual deficit associated with short stature,
DE   craniofacial dysmorphism, small testes, muscle wasting in lower legs,
DE   kyphosis, joint hyperextensibility, pes cavus, small feet, and
DE   abnormalities of the toes. Additional neurologic manifestations
DE   include speech delay and impairment, tremor, seizures, gait ataxia,
DE   hyperactivity and decreased attention span.
SY   Cabezas syndrome.
SY   Intellectual deficit, X-linked, Cabezas type.
SY   MRSS.
SY   MRXHF2.
SY   MRXS15.
DR   MIM; 300354; phenotype.
DR   MedGen; C1845861.
DR   MeSH; D038901.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Christianson type.
AC   DI-01965
AR   MRXSCH.
DE   A syndrome characterized by profound intellectual disability,
DE   epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with
DE   Angelman syndrome.
SY   MRXS-Christianson.
SY   X-linked Angelman-like syndrome.
DR   MIM; 300243; phenotype.
DR   MedGen; C2678194.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type.
AC   DI-00718
AR   MRXSCJ.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSCJ
DE   patients manifest intellectual disability associated with variable
DE   features such as slowly progressive spastic paraplegia, seizures,
DE   facial dysmorphism.
SY   MRXSJ.
DR   MIM; 300534; phenotype.
DR   MedGen; C1845243.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type.
AC   DI-05781
AR   MRXSHD.
DE   An X-linked recessive disorder characterized by impaired intellectual
DE   development, global developmental delay, hypotonia, joint
DE   contractures, behavioral abnormalities, Marfanoid habitus, scoliosis,
DE   and mildly dysmorphic facies.
DR   MIM; 301039; phenotype.
DR   MedGen; CN263370.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Hedera type.
AC   DI-00741
AR   MRXSH.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSH
DE   patients manifest mild to moderate intellectual disability associated
DE   with epilepsy, delays in motor milestones and speech acquisition in
DE   infancy.
SY   MRXE.
DR   MIM; 300423; phenotype.
DR   MedGen; C1845543.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Houge type.
AC   DI-05156
AR   MRXSHG.
DE   A disorder characterized by delayed development, intellectual
DE   disability, speech and language delay, and early-onset seizures.
DE   Carrier females may be mildly affected.
DR   MIM; 301008; phenotype.
DR   MedGen; CN679647.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Lubs type.
AC   DI-02752
AR   MRXSL.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSL
DE   patients manifest intellectual disability associated with variable
DE   features. They include swallowing dysfunction and gastroesophageal
DE   reflux with secondary recurrent respiratory infections, hypotonia,
DE   mild myopathy and characteristic facies such as downslanting palpebral
DE   fissures, hypertelorism and a short nose with a low nasal bridge.
SY   MECP2 duplication syndrome.
DR   MIM; 300260; phenotype.
DR   MedGen; C1300260.
DR   MedGen; C1846058.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type.
AC   DI-01917
AR   MRXSLF.
DE   A disorder characterized by tall stature with asthenic habitus,
DE   macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow
DE   palate with dental crowding, a small or receding chin, long hands with
DE   hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate
DE   intellectual disability, behavioral aberrations and dysgenesis of the
DE   corpus callosum.
SY   Lujan-Fryns syndrome.
DR   MIM; 309520; phenotype.
DR   MedGen; C0796022.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Nascimento-type.
AC   DI-03285
AR   MRXSN.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSN
DE   features include dysmorphic facies, hirsutism, skin and nails
DE   abnormalities, obesity, speech anomalies and seizures.
SY   MRXS30.
DR   MIM; 300860; phenotype.
DR   MedGen; C3275464.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Pilorge type.
AC   DI-06379
AR   MRXSP.
DE   A disorder characterized by global developmental delay with variably
DE   impaired intellectual development, speech delay, and behavioral
DE   abnormalities. Variable features include motor incoordination,
DE   seizures, and ocular abnormalities. Disease onset is in infancy, and
DE   severity is higly variable.
DR   MIM; 301076; phenotype.
DR   MedGen; CN308206.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Raymond type.
AC   DI-02508
AR   MRXSR.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. Some MRXSR
DE   patients show additional features, including marfanoid habitus,
DE   epilepsy, facial dysmorphism, hypotonia, and behavioral problems.
DR   MIM; 300799; phenotype.
DR   MedGen; C2749033.
DR   MedGen; C3275406.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Siderius type.
AC   DI-01966
AR   MRXSSD.
DE   A syndrome characterized by mild to borderline intellectual disability
DE   with or without cleft lip/cleft palate.
SY   Siderius-Hamel syndrome.
DR   MIM; 300263; phenotype.
DR   MedGen; C1846055.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type.
AC   DI-04512
AR   MRXSSB.
DE   A disorder characterized by mild to severe intellectual disability,
DE   hypotonia, movement disorders, behavior problems, corpus callosum
DE   hypoplasia, and epilepsy. Additionally, patients manifest variable
DE   non-neurologic features such as joint hyperlaxity, skin pigmentary
DE   abnormalities, cleft lip and/or palate, hearing and visual impairment,
DE   and precocious puberty.
SY   MRX102.
DR   MIM; 300958; phenotype.
DR   MedGen; CN232401.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type.
AC   DI-02315
AR   MRXSSR.
DE   An X-linked intellectual disability syndrome characterized by a
DE   collection of clinical features including facial asymmetry, marfanoid
DE   habitus, hypertonia, osteoporosis and unsteady gait.
SY   SRS.
DR   MIM; 309583; phenotype.
DR   MedGen; C0796160.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type.
AC   DI-02342
AR   SDSX.
DE   A syndrome characterized by severe intellectual disability with
DE   hyperactivity, aggressive behavior, delayed or no speech, and
DE   seizures. Additional features include congenital bilateral hip
DE   luxation, short stature, and kyphosis.
SY   Intellectual deficit X-linked Stocco Dos Santos type.
DR   MIM; 300434; phenotype.
DR   MedGen; C1845530.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Turner type.
AC   DI-00720
AR   MRXST.
DE   An X-linked neurodevelopmental disorder with highly variable clinical
DE   manifestations. Common features consist of moderate to profound
DE   intellectual disability, delayed or absent speech, short stature with
DE   small hands and feet, and non-specific but recurrent dysmorphic facial
DE   features such as macrocephaly, microcephaly, a broad nasal tip, deep
DE   set eyes, epicanthic folds, short palpebral fissures and a short
DE   philtrum. Patients may manifest other features, such as hypotonia,
DE   seizures and delayed bone age.
SY   Brooks-Wisniewski-Brown syndrome.
SY   JMS.
SY   Juberg-Marsidi syndrome.
SY   MRXSBWB.
DR   MIM; 309590; phenotype.
DR   MedGen; C2678046.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type.
AC   DI-03554
AR   WTS.
DE   A neurologic disorder characterized by severe intellectual disability,
DE   dysmorphic facial features, hypogonadism, short stature, and truncal
DE   obesity. Affected females have a milder phenotype than affected males.
SY   MRXS6.
SY   MRXSWT.
SY   Wilson-Turner syndrome.
DR   MIM; 309585; phenotype.
DR   MedGen; C1839736.
DR   MeSH; D038901.
KW   KW-0550:Obesity.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies.
AC   DI-06258
AR   MRXSPF.
DE   A disorder characterized by severe developmental delay with impaired
DE   intellectual development and poor speech, coarse facial dysmorphisms,
DE   and Blaschkoid pigmentary mosaicism. Additional clinical features may
DE   include epilepsy, orthopedic abnormalities, hypotonia, and growth
DE   abnormalities. The disorder affects both males and females.
DR   MIM; 301066; phenotype.
DR   MedGen; CN301092.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, syndromic, Wu type.
AC   DI-00739
AR   MRXSW.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSW
DE   patients have moderate intellectual disability, and additional
DE   variable features such as macrocephaly, seizures, myoclonic jerks,
DE   autistic behavior, asthenic body habitus, distal muscle weakness and
DE   hyporeflexia.
SY   MRX94.
SY   MRXS29.
DR   MIM; 300699; phenotype.
DR   MedGen; C2678051.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency.
AC   DI-01968
AR   MRXGH.
DE   A disorder characterized by the association of variable degrees of
DE   intellectual disability with panhypopituitarism, variable combinations
DE   of hypothyroidism, delayed pubertal development, and short stature due
DE   to growth hormone deficiency.
SY   Intellectual developmental disorder, X-linked, with panhypopituitarism.
SY   MRGH.
DR   MIM; 300123; phenotype.
DR   MedGen; C1848068.
DR   MedGen; C2678223.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual disability and myopathy syndrome.
AC   DI-06322
AR   IDMYS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, mildly impaired intellectual development, hypotonia, muscle
DE   weakness and fatigue, and white matter abnormalities on brain imaging.
DE   Variable additional features may include sensorineural hearing loss,
DE   dysmorphic facies, and progressive heart disease.
DR   MIM; 619719; phenotype.
DR   MedGen; CN306199.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Intellectual disability-hypotonic facies syndrome, X-linked, 1.
AC   DI-00723
AR   MRXHF1.
DE   A disorder characterized by significantly below average general
DE   intellectual functioning associated with impairments in adaptive
DE   behavior and manifested during the developmental period. MRXSHF1
DE   features include severe intellectual disability, dysmorphic facies,
DE   and a highly skewed X-inactivation pattern in carrier women. Other
DE   more variable features include hypogonadism, deafness, renal
DE   anomalies, and mild skeletal defects.
SY   Carpenter-Waziri syndrome.
SY   Chudley-Lowry syndrome.
SY   CWS.
SY   Holmes-Gang syndrome.
SY   Intellectual disability X-linked with growth retardation deafness and microgenitalism.
SY   JMS.
SY   Juberg-Marsidi syndrome.
SY   SFM1.
SY   SFMS.
SY   Smith-Fineman-Myers syndrome 1.
SY   XLMR-hypotonic facies syndrome.
DR   MIM; 309580; phenotype.
DR   MedGen; C0796003.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Interstitial lung and liver disease.
AC   DI-03921
AR   ILLD.
DE   An autosomal recessive, life-threatening disorder characterized by
DE   respiratory insufficiency and progressive liver disease with onset in
DE   infancy or early childhood. Clinical features include failure to
DE   thrive, hypotonia, intermittent lactic acidosis, aminoaciduria,
DE   hypothyroidism, interstitial lung disease, pulmonary alveolar
DE   proteinosis, anemia, and liver canalicular cholestasis, steatosis, and
DE   iron deposition.
SY   ILFS2.
SY   Infantile liver failure syndrome 2.
SY   Pulmonary alveolar proteinosis, Reunion island.
DR   MIM; 615486; phenotype.
DR   MedGen; C3809651.
DR   MedGen; CN180563.
DR   MeSH; D017093.
//
ID   Interstitial lung disease 1.
AC   DI-06268
AR   ILD1.
DE   A form of interstitial lung disease, a heterogeneous group of diseases
DE   affecting the distal part of the lung and characterized by a
DE   progressive remodeling of the alveolar interstitium. The disease
DE   spectrum ranges from idiopathic interstitial pneumonia or pneumonitis
DE   to idiopathic pulmonary fibrosis, that is associated with an increased
DE   risk of developing lung cancer. Clinical features of interstitial lung
DE   disease include dyspnea, clubbing of the fingers, and restrictive lung
DE   capacity. ILD1 inheritance can be autosomal dominant with incomplete
DE   penetrance, and autosomal recessive.
DR   MIM; 619611; phenotype.
DR   MedGen; CN304681.
DR   MeSH; D054990.
//
ID   Interstitial lung disease 2.
AC   DI-02670
AR   ILD2.
DE   A form of interstitial lung disease, a heterogeneous group of diseases
DE   affecting the distal part of the lung and characterized by a
DE   progressive remodeling of the alveolar interstitium. The disease
DE   spectrum ranges from idiopathic interstitial pneumonia or pneumonitis
DE   to idiopathic pulmonary fibrosis, that is associated with an increased
DE   risk of developing lung cancer. Clinical features of interstitial lung
DE   disease include dyspnea, clubbing of the fingers, and restrictive lung
DE   capacity. ILD2 inheritance is autosomal dominant.
SY   Fibrocystic pulmonary dysplasia.
SY   Fibrosing alveolitis cryptogenic.
SY   Hamman-Rich disease.
SY   Idiopathic pulmonary fibrosis familial.
SY   Interstitial pneumonitis usual.
SY   IPF.
SY   Pulmonary fibrosis, idiopathic.
SY   UIP.
DR   MIM; 178500; phenotype.
DR   MedGen; C0085786.
DR   MedGen; C1960051.
DR   MeSH; D054990.
//
ID   Interstitial nephritis, karyomegalic.
AC   DI-03532
AR   KMIN.
DE   A rare kidney disease characterized by chronic tubulointerstitial
DE   nephritis associated with massively enlarged tubular epithelial cell
DE   nuclei. The clinical picture is associated with recurrent upper
DE   respiratory tract infections in addition to chronic kidney disease
DE   beginning in the third decade of life.
SY   Karyomegalic tubulointerstitial nephritis.
SY   KTN.
DR   MIM; 614817; phenotype.
DR   MedGen; C3553774.
DR   MedGen; CN143720.
DR   MeSH; D009395.
//
ID   Intervertebral disc disease.
AC   DI-01829
AR   IDD.
DE   A common musculo-skeletal disorder caused by degeneration of
DE   intervertebral disks of the lumbar spine. It results in low-back pain
DE   and unilateral leg pain.
SY   Intervertebral disk disease.
SY   LDD.
SY   LDH.
SY   Lumbar disc degeneration.
SY   Lumbar disc disease.
SY   Lumbar disc herniation.
DR   MIM; 603932; phenotype.
DR   MedGen; C0158252.
DR   MedGen; C0221775.
DR   MedGen; C2675551.
DR   MedGen; C2676840.
DR   MeSH; D007405.
DR   MeSH; D055959.
//
ID   Intestinal carcinoid tumor.
AC   DI-02614
AR   ICT.
DE   A yellow, well-differentiated, circumscribed tumor that arises from
DE   enterochromaffin cells in the small intestine or, less frequently, in
DE   other parts of the gastrointestinal tract.
SY   Argentaffinoma.
SY   Carcinoid.
SY   Gastrointestinal carcinoid tumor.
DR   MIM; 114900; phenotype.
DR   MedGen; C0349535.
DR   MeSH; D002276.
//
ID   Intestinal dysmotility syndrome.
AC   DI-06508
AR   IDMTS.
DE   An autosomal recessive disorder characterized by impaired intestinal
DE   peristalsis, recurrent episodes of haemorrhagic diarrhea, and
DE   distention of intestinal loops. Intestinal and hepatic portal venous
DE   gas, dysmorphic features, and developmental delay may also be present.
DR   MIM; 620045; phenotype.
DR   MedGen; CN322040.
DR   MeSH; D007410.
//
ID   Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.
AC   DI-02438
AR   IPOX.
DE   A disease characterized by a severe abnormality of gastrointestinal
DE   motility due to primary qualitative defects of enteric ganglia and
DE   nerve fibers. Affected individuals manifest recurrent signs of
DE   intestinal obstruction in the absence of any mechanical lesion.
SY   CIIP.
SY   CIIPX.
SY   CIIP X-linked.
SY   Congenital idiopathic intestinal pseudoobstruction.
DR   MIM; 300048; phenotype.
DR   MedGen; C2746068.
DR   MeSH; D007418.
//
ID   Intracardiac myxoma.
AC   DI-01830
AR   INTMYX.
DE   Inheritance is autosomal recessive.
DR   MIM; 255960; phenotype.
DR   MedGen; C1850635.
DR   MedGen; C2931787.
//
ID   Intracerebral hemorrhage.
AC   DI-03406
AR   ICH.
DE   A pathological condition characterized by bleeding into one or both
DE   cerebral hemispheres including the basal ganglia and the cerebral
DE   cortex. It is often associated with hypertension and craniocerebral
DE   trauma. Intracerebral bleeding is a common cause of stroke.
SY   Hemorrhagic stroke.
DR   MIM; 614519; phenotype.
DR   MedGen; C0019191.
DR   MedGen; C3281105.
DR   MeSH; D002543.
//
ID   Intractable childhood epilepsy with generalized tonic-clonic seizures.
AC   DI-00599
AR   ICEGTC.
DE   A disorder characterized by generalized tonic-clonic seizures
DE   beginning usually in infancy and induced by fever. Seizures are
DE   associated with subsequent mental decline, as well as ataxia or
DE   hypotonia. ICEGTC is similar to SMEI, except for the absence of
DE   myoclonic seizures.
DR   MIM; 607208; phenotype.
DR   MedGen; C3501832.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
AC   DI-03499
AR   IMAGE.
DE   A rare condition characterized by intrauterine growth restriction,
DE   metaphyseal dysplasia, congenital adrenal hypoplasia, and genital
DE   anomalies. Patients with this condition may present shortly after
DE   birth with severe adrenal insufficiency, which can be life-threatening
DE   if not recognized early and commenced on steroid replacement therapy.
DE   Other reported features in this condition include, hypercalciuria
DE   and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.
SY   IMAGE syndrome.
DR   MIM; 614732; phenotype.
DR   MedGen; C1846009.
DR   MeSH; D000309.
DR   MeSH; D001848.
DR   MeSH; D005317.
//
ID   Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.
AC   DI-05489
AR   IMAGEI.
DE   An autosomal recessive disorder characterized by intrauterine growth
DE   retardation, postnatal growth failure, metaphyseal dysplasia, adrenal
DE   hypoplasia congenita, growth hormone deficiency, genital anomalies,
DE   and immunodeficiency resulting in increased infections.
DR   MIM; 618336; phenotype.
DR   MedGen; CN258213.
DR   MeSH; D000309.
DR   MeSH; D001848.
DR   MeSH; D005317.
DR   MeSH; D007153.
//
ID   Iron overload.
AC   DI-06548
AR   IO.
DE   A disorder of iron homeostasis with incomplete and age-dependent
DE   penetrance. It is characterized by adult onset of increased hepatic
DE   and systemic iron levels, increased serum ferritin, normal or high
DE   transferrin saturation, and inappropriately low or normal levels of
DE   hepcidin. The severity of the phenotype depends on age, sex, as well
DE   as additional genetic or acquired factors including alcohol
DE   consumption and increased body weight.
DR   MIM; 620121; phenotype.
DR   MedGen; CN322493.
DR   MeSH; D019190.
//
ID   Iron-refractory iron deficiency anemia.
AC   DI-01834
AR   IRIDA.
DE   Key features include congenital hypochromic microcytic anemia, very
DE   low mean corpuscular erythrocyte volume, low transferrin saturation,
DE   abnormal iron absorption characterized by no hematologic improvement
DE   following treatment with oral iron, and abnormal iron utilization
DE   characterized by a sluggish, incomplete response to parenteral iron.
SY   Hereditary iron-handling disorder.
SY   Hypochromic microcytic anemia with defect in iron metabolism.
SY   Pseudo-iron-deficiency anemia.
DR   MIM; 206200; phenotype.
DR   MedGen; C0085576.
//
ID   Ischemic stroke.
AC   DI-01835
AR   ISCHSTR.
DE   A stroke is an acute neurologic event leading to death of neural
DE   tissue of the brain and resulting in loss of motor, sensory and/or
DE   cognitive function. Ischemic strokes, resulting from vascular
DE   occlusion, is considered to be a highly complex disease consisting of
DE   a group of heterogeneous disorders with multiple genetic and
DE   environmental risk factors.
SY   Cerebral infarction.
SY   Cerebrovascular accident.
DR   MIM; 601367; phenotype.
DR   MedGen; C0038454.
DR   MedGen; C0948008.
//
ID   Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.
AC   DI-02312
AR   ICPPS.
DE   An autosomal dominant bone disease characterized by patellar aplasia
DE   or hypoplasia and by anomalies of the pelvis and feet, including
DE   disrupted ossification of the ischia and inferior pubic rami.
SY   Coxopodopatellar syndrome.
SY   Ischiopatellar dysplasia.
SY   Patella aplasia, coxa vara, and tarsal synostosis.
SY   Scott-Taor syndrome.
SY   Small patella syndrome.
SY   SPS.
DR   MIM; 147891; phenotype.
DR   MedGen; C1840061.
DR   MeSH; D001848.
//
ID   Isobutyryl-CoA dehydrogenase deficiency.
AC   DI-01836
AR   IBDD.
DE   An autosomal recessive metabolic disorder characterized by plasma
DE   carnitine deficiency and elevated C4-acylcarnitine. Patients manifest
DE   variable clinical features including failure to thrive, seizures,
DE   anemia, muscular hypotonia and developmental delay. Some patients may
DE   be asymptomatic.
SY   ACAD8 deficiency.
SY   Deficiency of acyl-CoA dehydrogenase family member 8.
SY   IBD deficiency.
DR   MIM; 611283; phenotype.
DR   MedGen; C1969809.
DR   MeSH; D008661.
//
ID   Isovaleric acidemia.
AC   DI-01845
AR   IVA.
DE   A metabolic disorder characterized by retarded psychomotor
DE   development, a peculiar odor resembling sweaty feet, an aversion to
DE   dietary protein, and pernicious vomiting, leading to acidosis and
DE   coma. The acute neonatal form leads to massive metabolic acidosis from
DE   the first days of life and rapid death.
SY   Isovaleric acid CoA dehydrogenase deficiency.
SY   IVD deficiency.
DR   MIM; 243500; phenotype.
DR   MedGen; C0268575.
DR   MedGen; CN068671.
DR   MeSH; D000592.
//
ID   IVIC syndrome.
AC   DI-01846
AR   IVIC.
DE   An autosomal dominant condition characterized by upper limbs anomalies
DE   (radial ray defects, carpal bones fusion), extraocular motor
DE   disturbances, congenital bilateral non-progressive mixed hearing loss.
DE   Other less consistent malformations include heart involvement, mild
DE   thrombocytopenia and leukocytosis (before age 50), shoulder girdle
DE   hypoplasia, imperforate anus, kidney malrotation or rectovaginal
DE   fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray
DE   syndrome with a similar phenotype.
SY   Oculootoradial syndrome.
SY   Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
DR   MIM; 147750; phenotype.
DR   MedGen; C1327918.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
//
ID   Jaberi-Elahi syndrome.
AC   DI-05251
AR   JABELS.
DE   An autosomal recessive disorder characterized by developmental delay
DE   and intellectual disability. Additional variable features include
DE   ataxic gait and abnormal movements, visual impairment, microcephaly,
DE   abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial
DE   features or seizures. Brain imaging typically shows cerebellar atrophy
DE   and hypoplasia of the corpus callosum.
DR   MIM; 617988; phenotype.
DR   MedGen; CN244943.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Jackson-Weiss syndrome.
AC   DI-00602
AR   JWS.
DE   An autosomal dominant craniosynostosis syndrome characterized by
DE   craniofacial abnormalities and abnormality of the feet: broad great
DE   toes with medial deviation and tarsal-metatarsal coalescence.
SY   Craniosynostosis-midfacial hypoplasia-foot abnormalities.
DR   MIM; 123150; phenotype.
DR   MedGen; C0795998.
DR   MeSH; D003398.
DR   MeSH; D005532.
KW   KW-0989:Craniosynostosis.
//
ID   Jalili syndrome.
AC   DI-00603
AR   JALIS.
DE   A syndrome characterized by the association of cone-rod dystrophy and
DE   amelogenesis imperfecta.
SY   Cone-rod dystrophy and amelogenesis imperfecta.
DR   MIM; 217080; phenotype.
DR   MedGen; C1857588.
DR   MedGen; C3495589.
DR   MeSH; D000567.
DR   MeSH; D012164.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Jansen-de Vries syndrome.
AC   DI-04996
AR   JDVS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   mild to severe intellectual disability, psychomotor developmental
DE   delay, speech delay, and behavioral manifestations including attention
DE   deficit-hyperactivity disorder, autism and anxiety disorders. Most
DE   patients have variable additional features, including feeding and
DE   gastrointestinal difficulties, high pain threshold, hypersensitivity
DE   to sound, hypotonia, broad-based gait, and dysmorphic features,
DE   including mild facial abnormalities, strabismus, and small hands and
DE   feet.
SY   IDDGIP.
SY   Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.
DR   MIM; 617450; phenotype.
DR   MedGen; CN243957.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Jawad syndrome.
AC   DI-03354
AR   JWDS.
DE   A syndrome characterized by congenital microcephaly, moderately severe
DE   intellectual disability, and symmetrical digital anomalies. Digital
DE   malformations of variable degree include hallux valgus, syndactyly of
DE   toes 4 and 5, short fifth fingers, single flexion crease of fifth
DE   fingers, polydactyly and synpolydactyly.
SY   Kelly syndrome.
DR   MIM; 251255; phenotype.
DR   MedGen; C2673414.
DR   MeSH; D008831.
DR   MeSH; D017880.
KW   KW-0991:Intellectual disability.
//
ID   Jervell and Lange-Nielsen syndrome 1.
AC   DI-00604
AR   JLNS1.
DE   An autosomal recessive disorder characterized by congenital deafness,
DE   prolongation of the QT interval, syncopal attacks due to ventricular
DE   arrhythmias, and a high risk of sudden death.
SY   Cardioauditory syndrome of Jervell and Lange-Nielsen.
SY   Congenital deafness and functional heart disease.
SY   Long QT interval-deafness.
SY   Prolonged QT interval in EKG and sudden death.
SY   Surdo-cardiac syndrome.
DR   MIM; 220400; phenotype.
DR   MedGen; C0022387.
DR   MedGen; CN177652.
DR   MeSH; D029593.
KW   KW-0209:Deafness.
KW   KW-0454:Long QT syndrome.
//
ID   Jervell and Lange-Nielsen syndrome 2.
AC   DI-00605
AR   JLNS2.
DE   An autosomal recessive disorder characterized by congenital deafness,
DE   prolongation of the QT interval, syncopal attacks due to ventricular
DE   arrhythmias, and a high risk of sudden death.
SY   Cardioauditory syndrome of Jervell and Lange-Nielsen.
SY   Congenital deafness and functional heart disease.
SY   Long QT interval-deafness.
SY   Prolonged QT interval in EKG and sudden death.
SY   Surdo-cardiac syndrome.
DR   MIM; 612347; phenotype.
DR   MedGen; C2676723.
DR   MeSH; D029593.
KW   KW-0209:Deafness.
KW   KW-0454:Long QT syndrome.
//
ID   Johanson-Blizzard syndrome.
AC   DI-01849
AR   JBS.
DE   This disorder includes congenital exocrine pancreatic insufficiency,
DE   multiple malformations such as nasal wing aplasia, and intellectual
DE   disability. Pancreas of individuals with JBS do not express UBR1 and
DE   show intrauterine-onset destructive pancreatitis.
DR   MIM; 243800; phenotype.
DR   MedGen; C0175692.
//
ID   Joint contractures, osteochondromas, and B-cell lymphoma.
AC   DI-06599
AR   JCOSL.
DE   An autosomal recessive disorder characterized by musculoskeletal and
DE   hematopoietic issues. Affected individuals develop painless fixed
DE   joint contractures in early childhood, have osteochondromas,
DE   osteopenia, and can develop B-cell lymphomas.
DR   MIM; 620232; phenotype.
DR   MedGen; CN323201.
DR   MeSH; D009140.
DR   MeSH; D015831.
DR   MeSH; D016393.
//
ID   Joint laxity, short stature, and myopia.
AC   DI-05096
AR   JLSM.
DE   An autosomal recessive disease characterized by generalized joint
DE   laxity, joint dislocation, pectus carinatum, short stature, and severe
DE   myopia with retinal detachment.
DR   MIM; 617662; phenotype.
DR   MedGen; CN453922.
DR   MeSH; D004392.
DR   MeSH; D007592.
DR   MeSH; D009216.
KW   KW-0242:Dwarfism.
//
ID   Joubert syndrome 1.
AC   DI-02532
AR   JBTS1.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
SY   Cerebellooculorenal syndrome 1.
SY   Cerebello-oculo-renal syndrome 1.
SY   Cerebelloparenchymal disorder IV.
SY   CORS1.
SY   CPD4.
SY   JBTS.
SY   Joubert-Boltshauser syndrome.
SY   joubert syndrome.
DR   MIM; 213300; phenotype.
DR   MedGen; C0431399.
DR   MedGen; CN119531.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 10.
AC   DI-02504
AR   JBTS10.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 300804; phenotype.
DR   MedGen; C2749019.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 11.
AC   DI-03108
AR   JBTS11.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 613820; phenotype.
DR   MedGen; C3279203.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 12.
AC   DI-03219
AR   JBTS12.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 200990; phenotype.
DR   MedGen; C3277723.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 13.
AC   DI-03232
AR   JBTS13.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 614173; phenotype.
DR   MedGen; C3280031.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 14.
AC   DI-03313
AR   JBTS14.
DE   An autosomal recessive disorder characterized by severe intellectual
DE   disability, hypotonia, breathing abnormalities in infancy, and
DE   dysmorphic facial features. Neuroradiologically, it is characterized
DE   by cerebellar vermian hypoplasia/aplasia, thickened and reoriented
DE   superior cerebellar peduncles, and an abnormally large interpeduncular
DE   fossa, giving the appearance of a molar tooth on transaxial slices
DE   (molar tooth sign). Additional variable features include renal
DE   disease, abnormal eye movements, and postaxial polydactyly.
DR   MIM; 614424; phenotype.
DR   MedGen; C3280766.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 15.
AC   DI-03314
AR   JBTS15.
DE   An autosomal recessive disorder presenting with cerebellar ataxia,
DE   oculomotor apraxia, hypotonia, neonatal breathing abnormalities and
DE   psychomotor delay. Neuroradiologically, it is characterized by
DE   cerebellar vermian hypoplasia/aplasia, thickened and reoriented
DE   superior cerebellar peduncles, and an abnormally large interpeduncular
DE   fossa, giving the appearance of a molar tooth on transaxial slices
DE   (molar tooth sign). Additional variable features include retinal
DE   dystrophy, renal disease, liver fibrosis and polydactyly.
DR   MIM; 614464; phenotype.
DR   MedGen; C3280897.
DR   MedGen; C3280898.
DR   MedGen; C3280899.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 16.
AC   DI-03315
AR   JBTS16.
DE   An autosomal recessive disorder characterized by oculomotor apraxia,
DE   variable coloboma, and rare kidney involvement. Neuroradiologically,
DE   it is characterized by an abnormally large interpeduncular fossa,
DE   giving the appearance of a molar tooth on transaxial slices (molar
DE   tooth sign). Additional variable features include retinal dystrophy
DE   and polydactyly.
DR   MIM; 614465; phenotype.
DR   MedGen; C3280906.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 17.
AC   DI-03439
AR   JBTS17.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 614615; phenotype.
DR   MedGen; C3553264.
DR   MedGen; CN124733.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 18.
AC   DI-03515
AR   JBTS18.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy and renal disease. JBTS18 patients have
DE   vermis agenesis and the molar tooth sign as well as severe
DE   kyphoscoliosis. Other features include intrauterine growth
DE   retardation, oral anomalies, micrognathism, polydactyly and
DE   camptodactyly, joint laxity, horseshoe kidney, and ventricular septal
DE   defect.
DR   MIM; 614815; phenotype.
DR   MedGen; C3553758.
DR   MedGen; CN143714.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 19.
AC   DI-03548
AR   JBTS19.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). JBTS19 patients have polycystic
DE   kidney disease, Leber congenital amaurosis, cerebellar vermis
DE   hypoplasia, and breathing abnormality.
DR   MIM; 614844; phenotype.
DR   MedGen; C3553846.
DR   MedGen; CN158706.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 2.
AC   DI-02621
AR   JBTS2.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
SY   Cerebellooculorenal syndrome 2.
SY   Cerebello-oculo-renal syndrome 2.
SY   CORS2.
DR   MIM; 608091; phenotype.
DR   MedGen; C1842577.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 20.
AC   DI-03599
AR   JBTS20.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 614970; phenotype.
DR   MedGen; C3554235.
DR   MedGen; CN162975.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 21.
AC   DI-04019
AR   JBTS21.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy, renal disease,
DE   liver fibrosis, and polydactyly.
DR   MIM; 615636; phenotype.
DR   MedGen; C3810212.
DR   MedGen; CN184650.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 22.
AC   DI-04020
AR   JBTS22.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy, renal disease,
DE   liver fibrosis, and polydactyly.
DR   MIM; 615665; phenotype.
DR   MedGen; C3810278.
DR   MedGen; CN184729.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 23.
AC   DI-04495
AR   JBTS23.
DE   A mild form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly.
DR   MIM; 616490; phenotype.
DR   MedGen; CN231732.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 24.
AC   DI-04579
AR   JBTS24.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly.
DR   MIM; 616654; phenotype.
DR   MedGen; CN233319.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 25.
AC   DI-04607
AR   JBTS25.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS25 clinical manifestations appear to be confined to
DE   the neurologic system. JBTS25 inheritance is autosomal recessive.
DR   MIM; 616781; phenotype.
DR   MedGen; CN235076.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 26.
AC   DI-04615
AR   JBTS26.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS26 inheritance is autosomal recessive.
DR   MIM; 616784; phenotype.
DR   MedGen; CN235096.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 27.
AC   DI-04819
AR   JBTS27.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS27 inheritance is autosomal recessive.
DR   MIM; 617120; phenotype.
DR   MedGen; CN238517.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 28.
AC   DI-04820
AR   JBTS28.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS28 inheritance is autosomal recessive.
DR   MIM; 617121; phenotype.
DR   MedGen; CN238518.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 29.
AC   DI-05036
AR   JBTS29.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS29 inheritance is autosomal recessive.
DR   MIM; 617562; phenotype.
DR   MedGen; CN317537.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 3.
AC   DI-00606
AR   JBTS3.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease. Joubert syndrome type 3 shows minimal extra central nervous
DE   system involvement and appears not to be associated with renal
DE   dysfunction.
DR   MIM; 608629; phenotype.
DR   MedGen; C1837713.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 30.
AC   DI-05051
AR   JBTS30.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS30 inheritance is autosomal recessive.
DR   MIM; 617622; phenotype.
DR   MedGen; CN399089.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 31.
AC   DI-05136
AR   JBTS31.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS31 inheritance is autosomal recessive.
DR   MIM; 617761; phenotype.
DR   MedGen; CN593637.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 32.
AC   DI-05134
AR   JBTS32.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS32 inheritance is autosomal recessive.
DR   MIM; 617757; phenotype.
DR   MedGen; CN596207.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 33.
AC   DI-05135
AR   JBTS33.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS33 inheritance is autosomal recessive.
DR   MIM; 617767; phenotype.
DR   MedGen; CN601375.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 34.
AC   DI-05148
AR   JBTS34.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS34 inheritance is autosomal recessive.
DR   MIM; 614175; phenotype.
DR   MedGen; CN620433.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 35.
AC   DI-05361
AR   JBTS35.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS35 inheritance is autosomal recessive.
DR   MIM; 618161; phenotype.
DR   MedGen; CN257752.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 36.
AC   DI-05752
AR   JBTS36.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS36 inheritance is autosomal recessive.
DR   MIM; 618763; phenotype.
DR   MedGen; CN263245.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 37.
AC   DI-06049
AR   JBTS37.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS37 inheritance is autosomal recessive.
DR   MIM; 619185; phenotype.
DR   MedGen; CN295300.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 38.
AC   DI-06194
AR   JBTS38.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS38 inheritance is autosomal recessive.
DR   MIM; 619476; phenotype.
DR   MedGen; CN301127.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 39.
AC   DI-06239
AR   JBTS39.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS39 inheritance is autosomal recessive.
DR   MIM; 619562; phenotype.
DR   MedGen; CN300809.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 4.
AC   DI-00607
AR   JBTS4.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease. Joubert syndrome type 4 is a phenotypically mild form.
DR   MIM; 609583; phenotype.
DR   MedGen; C1846790.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 40.
AC   DI-06240
AR   JBTS40.
DE   A form of Joubert syndrome, a disorder presenting with cerebellar
DE   ataxia, oculomotor apraxia, hypotonia, neonatal breathing
DE   abnormalities and psychomotor delay. Neuroradiologically, it is
DE   characterized by cerebellar vermian hypoplasia/aplasia, thickened and
DE   reoriented superior cerebellar peduncles, and an abnormally large
DE   interpeduncular fossa, giving the appearance of a molar tooth on
DE   transaxial slices (molar tooth sign). Additional variable features
DE   include retinal dystrophy, renal disease, liver fibrosis, and
DE   polydactyly. JBTS40 inheritance is autosomal recessive.
DR   MIM; 619582; phenotype.
DR   MedGen; CN301081.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 5.
AC   DI-00608
AR   JBTS5.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease. Joubert syndrome type 5 shares the neurologic and
DE   neuroradiologic features of Joubert syndrome together with severe
DE   retinal dystrophy and/or progressive renal failure characterized by
DE   nephronophthisis.
DR   MIM; 610188; phenotype.
DR   MedGen; C1857780.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 6.
AC   DI-00609
AR   JBTS6.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 610688; phenotype.
DR   MedGen; C1853153.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 7.
AC   DI-00610
AR   JBTS7.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
SY   Cerebello-oculo-renal syndrome 3.
SY   CORS3.
DR   MIM; 611560; phenotype.
DR   MedGen; C1969053.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 8.
AC   DI-00611
AR   JBTS8.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 612291; phenotype.
DR   MedGen; C2676771.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Joubert syndrome 9.
AC   DI-00612
AR   JBTS9.
DE   A disorder presenting with cerebellar ataxia, oculomotor apraxia,
DE   hypotonia, neonatal breathing abnormalities and psychomotor delay.
DE   Neuroradiologically, it is characterized by cerebellar vermian
DE   hypoplasia/aplasia, thickened and reoriented superior cerebellar
DE   peduncles, and an abnormally large interpeduncular fossa, giving the
DE   appearance of a molar tooth on transaxial slices (molar tooth sign).
DE   Additional variable features include retinal dystrophy and renal
DE   disease.
DR   MIM; 612285; phenotype.
DR   MedGen; C2676788.
DR   MeSH; D002526.
DR   MeSH; D005124.
DR   MeSH; D052177.
KW   KW-0979:Joubert syndrome.
//
ID   Juberg-Hayward syndrome.
AC   DI-06066
AR   JHS.
DE   An autosomal recessive syndrome characterized by cleft lip/palate,
DE   microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature,
DE   dislocation of radial head, and fusion of humerus and radius leading
DE   to elbow restriction.
SY   Cleft Lip/Palate with abnormal thumbs and microcephaly.
SY   Cleft lip/palate with radial head and digital anomalies.
SY   Orocraniodigital syndrome.
DR   MIM; 216100; phenotype.
DR   MedGen; C0796099.
DR   MeSH; D009958.
KW   KW-0242:Dwarfism.
//
ID   Juvenile absence epilepsy 1.
AC   DI-00613
AR   JAE1.
DE   A subtype of idiopathic generalized epilepsy characterized by onset
DE   occurring around puberty, absence seizures, generalized tonic-clonic
DE   seizures (GTCS), GTCS on awakening, and myoclonic seizures.
SY   EJA1.
SY   Susceptibility to juvenile absence epilepsy 1.
DR   MIM; 607631; phenotype.
DR   MedGen; C0014553.
DR   MedGen; C2750892.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Juvenile absence epilepsy 2.
AC   DI-02591
AR   JAE2.
DE   A subtype of idiopathic generalized epilepsy characterized by onset
DE   occurring around puberty, absence seizures, generalized tonic-clonic
DE   seizures (GTCS), GTCS on awakening, and myoclonic seizures.
SY   EJA2.
SY   Susceptibility to juvenile absence epilepsy 2.
DR   MIM; 607628; phenotype.
DR   MedGen; C2750895.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Juvenile arthritis.
AC   DI-05771
AR   JUVAR.
DE   A rare, familial form of juvenile arthritis characterized by autosomal
DE   recessive inheritance and onset in early childhood of symmetric,
DE   chronic joint inflammation. It causes joint swelling, pain, stiffness
DE   and restricted joint movement. JUVAR has high clinical variability.
DE   Some patients exhibit systemic symptoms, including quotidian fever,
DE   erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or
DE   splenomegaly. Others display polyarthritis without systemic
DE   inflammation.
DR   MIM; 618795; phenotype.
DR   MedGen; C3495559.
DR   MeSH; D001171.
//
ID   Juvenile myoclonic epilepsy 1.
AC   DI-00615
AR   EJM1.
DE   A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE   seizures only, with onset in adolescence (rather than in childhood)
DE   and myoclonic jerks which usually occur after awakening and are
DE   triggered by sleep deprivation and fatigue.
SY   Janz syndrome.
SY   JME.
SY   Petit mal impulsive.
SY   Susceptibility to juvenile myoclonic epilepsy 1.
DR   MIM; 254770; phenotype.
DR   MedGen; C0270853.
DR   MedGen; C1850778.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile myoclonic epilepsy 10.
AC   DI-05223
AR   EJM10.
DE   A form of juvenile myoclonic epilepsy, a subtype of idiopathic
DE   generalized epilepsy generally characterized by afebrile seizures with
DE   onset in adolescence (rather than in childhood) and myoclonic jerks,
DE   which usually occur after awakening and are triggered by sleep
DE   deprivation and fatigue. EJM10 is an autosomal dominant seizure
DE   disorder with variable manifestations, even within families. Affected
DE   individuals have febrile, myoclonic, tonic-clonic, or absence
DE   seizures, although several seizure types can occur in the same
DE   individual. Some patients have onset of seizures in the first years of
DE   life.
DR   MIM; 617924; phenotype.
DR   MedGen; CN244548.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile myoclonic epilepsy 5.
AC   DI-03086
AR   EJM5.
DE   A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE   seizures only, with onset in adolescence (rather than in childhood)
DE   and myoclonic jerks which usually occur after awakening and are
DE   triggered by sleep deprivation and fatigue.
SY   Susceptibility to juvenile myoclonic epilepsy 5.
DR   MIM; 611136; phenotype.
DR   MedGen; C2749942.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile myoclonic epilepsy 6.
AC   DI-00614
AR   EJM6.
DE   A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE   seizures only, with onset in adolescence (rather than in childhood)
DE   and myoclonic jerks which usually occur after awakening and are
DE   triggered by sleep deprivation and fatigue.
SY   Susceptibility to juvenile myoclonic epilepsy 6.
DR   MIM; 607682; phenotype.
DR   MedGen; CN043198.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile myoclonic epilepsy 7.
AC   DI-02486
AR   EJM7.
DE   A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE   seizures only, with onset in adolescence (rather than in childhood)
DE   and myoclonic jerks which usually occur after awakening and are
DE   triggered by sleep deprivation and fatigue.
SY   Susceptibility to juvenile myoclonic epilepsy 7.
DR   MIM; 613060; phenotype.
DR   MedGen; CN043549.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile myoclonic epilepsy 8.
AC   DI-02592
AR   EJM8.
DE   A subtype of idiopathic generalized epilepsy. Patients have afebrile
DE   seizures only, with onset in adolescence (rather than in childhood)
DE   and myoclonic jerks which usually occur after awakening and are
DE   triggered by sleep deprivation and fatigue.
SY   Susceptibility to juvenile myoclonic epilepsy 8.
DR   MIM; 607628; phenotype.
DR   MedGen; CN043197.
DR   MeSH; D020190.
KW   KW-0887:Epilepsy.
//
ID   Juvenile polyposis syndrome.
AC   DI-01854
AR   JPS.
DE   Autosomal dominant gastrointestinal hamartomatous polyposis syndrome
DE   in which patients are at risk for developing gastrointestinal cancers.
DE   The lesions are typified by a smooth histological appearance,
DE   predominant stroma, cystic spaces and lack of a smooth muscle core.
DE   Multiple juvenile polyps usually occur in a number of Mendelian
DE   disorders. Sometimes, these polyps occur without associated features
DE   as in JPS; here, polyps tend to occur in the large bowel and are
DE   associated with an increased risk of colon and other gastrointestinal
DE   cancers.
SY   JIP.
SY   Juvenile intestinal polyposis.
DR   MIM; 174900; phenotype.
DR   MedGen; C0345893.
DR   MedGen; C1832940.
DR   MedGen; C1868081.
//
ID   Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.
AC   DI-01855
AR   JP/HHT.
DE   JP/HHT syndrome phenotype consists of the coexistence of juvenile
DE   polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT)
DE   [MIM:187300] in a single individual. JIP and HHT are autosomal
DE   dominant disorders with distinct and non-overlapping clinical
DE   features. The former, an inherited gastrointestinal malignancy
DE   predisposition, is caused by mutations in SMAD4 or BMPR1A, and the
DE   latter is a vascular malformation disorder caused by mutations in ENG
DE   or ACVRL1. All four genes encode proteins involved in the
DE   transforming-growth-factor-signaling pathway. Although there are
DE   reports of patients and families with phenotypes of both disorders
DE   combined, the genetic etiology of this association is unknown.
DR   MIM; 175050; phenotype.
DR   MedGen; C1832942.
//
ID   Juvenile primary lateral sclerosis.
AC   DI-00616
AR   JPLS.
DE   A neurodegenerative disorder which is closely related to but
DE   clinically distinct from amyotrophic lateral sclerosis. It is a
DE   progressive paralytic disorder which results from dysfunction of the
DE   upper motor neurons while the lower neurons are unaffected.
DR   MIM; 606353; phenotype.
DR   MedGen; C1853396.
DR   MeSH; D016472.
KW   KW-0523:Neurodegeneration.
//
ID   Kabuki syndrome 1.
AC   DI-02865
AR   KABUK1.
DE   An autosomal dominant, congenital syndrome characterized by
DE   intellectual disability and additional features, including postnatal
DE   dwarfism, a peculiar facies characterized by long palpebral fissures
DE   with eversion of the lateral third of the lower eyelids, a broad and
DE   depressed nasal tip, large prominent earlobes, a cleft or high-arched
DE   palate, scoliosis, short fifth finger, persistence of fingerpads,
DE   radiographic abnormalities of the vertebrae, hands, and hip joints,
DE   and recurrent otitis media in infancy.
SY   Kabuki make-up syndrome.
SY   Kabuki syndrome.
SY   KMS.
SY   Niikawa-Kuroki syndrome.
DR   MIM; 147920; phenotype.
DR   MedGen; C0796004.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Kabuki syndrome 2.
AC   DI-03337
AR   KABUK2.
DE   A congenital intellectual disability syndrome with additional
DE   features, including postnatal dwarfism, a peculiar facies
DE   characterized by long palpebral fissures with eversion of the lateral
DE   third of the lower eyelids, a broad and depressed nasal tip, large
DE   prominent earlobes, a cleft or high-arched palate, scoliosis, short
DE   fifth finger, persistence of fingerpads, radiographic abnormalities of
DE   the vertebrae, hands, and hip joints, and recurrent otitis media in
DE   infancy.
DR   MIM; 300867; phenotype.
DR   MedGen; C3275495.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Kahrizi syndrome.
AC   DI-03364
AR   KHRZ.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   intellectual disability, cataracts, coloboma, kyphosis, and coarse
DE   facial features.
DR   MIM; 612713; phenotype.
DR   MedGen; C2675185.
DR   MeSH; D005128.
DR   MeSH; D008607.
DR   MeSH; D019066.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Kanzaki disease.
AC   DI-01857
AR   KANZD.
DE   Autosomal recessive disorder characterized by late-onset,
DE   angiokeratoma corporis diffusum and mild intellectual impairment.
SY   NAGA deficiency type II.
SY   Schindler disease type II.
DR   MIM; 609242; phenotype.
DR   MedGen; C1836522.
//
ID   Kartagener syndrome.
AC   DI-00623
AR   KTGS.
DE   An autosomal recessive disorder characterized by the association of
DE   primary ciliary dyskinesia with situs inversus. Clinical features
DE   include recurrent respiratory infections, bronchiectasis, infertility,
DE   and lateral transposition of the viscera of the thorax and abdomen.
DE   The situs inversus is most often total, although it can be partial in
DE   some cases (isolated dextrocardia or isolated transposition of
DE   abdominal viscera).
SY   Dextrocardia-bronchiectasis-sinusitis syndrome.
SY   Immotile cilia syndrome Kartagener type.
SY   Primary ciliary dyskinesia Kartagener type.
SY   Siewert syndrome.
DR   MIM; 244400; phenotype.
DR   MedGen; C0022521.
DR   MeSH; D007619.
KW   KW-1012:Kartagener syndrome.
//
ID   Kaufman oculocerebrofacial syndrome.
AC   DI-04406
AR   KOS.
DE   A syndrome characterized by blepharophimosis, ptosis, mild upslanting
DE   of the palpebral fissures, epicanthus, ectodermal anomalies,
DE   developmental delay, and severe intellectual disability with absent
DE   speech. Proportionate growth retardation with a small head
DE   circumference/microcephaly, congenital malformations, muscular
DE   hypotonia, anomalies on brain imaging with hypoplasia of the corpus
DE   callosum, and low cholesterol levels are variably present.
SY   Blepharophimosis-ptosis-intellectual disability syndrome.
SY   BPIDS.
SY   BPID syndrome.
DR   MIM; 244450; phenotype.
DR   MedGen; C1855663.
DR   MedGen; C3808692.
DR   MedGen; CN169377.
DR   MeSH; D005124.
DR   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D019066.
KW   KW-0991:Intellectual disability.
//
ID   Kawasaki disease.
AC   DI-02892
AR   KWD.
DE   An acute, self-limited vasculitis of infants and children
DE   characterized by prolonged fever unresponsive to antibiotics,
DE   polymorphous skin rash, erythema of the oral mucosa, lips, and tongue,
DE   erythema of the palms and soles, bilateral conjunctival injection, and
DE   cervical lymphadenopathy.
SY   Infantile polyarteritis.
SY   Mucocutaneous lymph node syndrome.
DR   MIM; 611775; phenotype.
DR   MedGen; C0026691.
DR   MedGen; C2936917.
DR   MeSH; D009080.
//
ID   Kaya-Barakat-Masson syndrome.
AC   DI-05991
AR   KABAMAS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   impaired intellectual development, absent speech, hypotonia, profound
DE   developmental and motor delay with dystonia, poor coordination and
DE   spasticity, and visual deficits with brain MRI evidence of ventricle
DE   enlargement, myelination alterations and cerebellar atrophy.
DR   MIM; 619125; phenotype.
DR   MedGen; CN293591.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   KBG syndrome.
AC   DI-03268
AR   KBGS.
DE   A syndrome characterized by macrodontia of the upper central incisors,
DE   distinctive craniofacial findings, short stature, skeletal anomalies,
DE   and neurologic involvement that includes global developmental delay,
DE   seizures, and intellectual disability.
DR   MIM; 148050; phenotype.
DR   MedGen; C0220687.
DR   MeSH; D001848.
DR   MeSH; D008607.
DR   MeSH; D014071.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Keipert syndrome.
AC   DI-05580
AR   KPTS.
DE   An X-linked recessive syndrome characterized by craniofacial and
DE   digital abnormalities. Clinical features include a prominent forehead,
DE   a flat midface, hypertelorism, a broad nose, downturned corners of
DE   mouth, and widening of all distal phalanges. Additional variable
DE   features are cognitive impairment and sensorineural deafness.
SY   Nasodigitoacoustic syndrome.
DR   MIM; 301026; phenotype.
DR   MedGen; C1850627.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Kenny-Caffey syndrome 1.
AC   DI-01859
AR   KCS1.
DE   An autosomal recessive form of Kenny-Caffey syndrome, a disorder
DE   characterized by impaired skeletal development with small and dense
DE   bones, short stature, and primary hypoparathyroidism with
DE   hypocalcemia. Clinical features include cortical thickening and
DE   medullary stenosis of the tubular bones, delayed closure of fontanels,
DE   defective dentition, small eyes with hypermetropia, and frontal
DE   bossing with a triangular face.
SY   KCS.
SY   Kenny-Caffey syndrome autosomal recessive.
DR   MIM; 244460; phenotype.
DR   MedGen; C1855648.
DR   MeSH; D006958.
KW   KW-0242:Dwarfism.
//
ID   Kenny-Caffey syndrome 2.
AC   DI-03711
AR   KCS2.
DE   A disorder characterized by impaired skeletal development with small
DE   and dense bones, short stature, and primary hypoparathyroidism with
DE   hypocalcemia. Clinical features include cortical thickening and
DE   medullary stenosis of the tubular bones, delayed closure of fontanels,
DE   defective dentition, small eyes with hypermetropia, and frontal
DE   bossing with a triangular face.
SY   Dwarfism with cortical thickening of tubular bones and transient hypocalcemia.
SY   Kenny syndrome.
DR   MIM; 127000; phenotype.
DR   MedGen; C0265291.
DR   MeSH; D006958.
KW   KW-0242:Dwarfism.
//
ID   Keppen-Lubinsky syndrome.
AC   DI-04375
AR   KPLBS.
DE   A rare disease characterized by severe developmental delay,
DE   intellectual disability, severe generalized lipodystrophy, dysmorphic
DE   features including microcephaly, large prominent eyes, narrow nasal
DE   bridge, tented upper lip, high palate, open mouth, tightly adherent
DE   skin, and aged appearance.
DR   MIM; 614098; phenotype.
DR   MedGen; C3279800.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
KW   KW-1022:Congenital generalized lipodystrophy.
//
ID   Keratinocytic non-epidermolytic nevus.
AC   DI-01860
AR   KNEN.
DE   Epidermal nevi of the common, non-organoid and non-epidermolytic type
DE   are benign skin lesions and may vary in their extent from a single
DE   (usually linear) lesion to widespread and systematized involvement.
DE   They may be present at birth or develop early during childhood.
SY   Pigmented moles.
DR   MIM; 162900; phenotype.
DR   MedGen; C0334082.
DR   MedGen; C3665593.
//
ID   Keratitis hereditary.
AC   DI-01213
AR   KERH.
DE   An ocular disorder characterized by corneal opacification, recurrent
DE   stromal keratitis and vascularization.
SY   Autosomal dominant keratitis.
DR   MIM; 148190; phenotype.
DR   MedGen; C1835698.
DR   MeSH; D007634.
//
ID   Keratitis-ichthyosis-deafness syndrome, autosomal dominant.
AC   DI-00624
AR   KIDAD.
DE   An autosomal dominant form of keratitis-ichthyosis-deafness syndrome,
DE   a disease characterized by the association of hyperkeratotic skin
DE   lesions with vascularizing keratitis and profound sensorineural
DE   hearing loss. Clinical features include deafness, ichthyosis,
DE   photophobia, absent or decreased eyebrows, sparse or absent scalp
DE   hair, decreased sweating and dysplastic finger and toenails.
SY   KID syndrome.
DR   MIM; 148210; phenotype.
DR   MedGen; C0265336.
DR   MeSH; D003638.
DR   MeSH; D007057.
DR   MeSH; D007634.
KW   KW-0209:Deafness.
KW   KW-0977:Ichthyosis.
//
ID   Keratitis-ichthyosis-deafness syndrome, autosomal recessive.
AC   DI-05746
AR   KIDAR.
DE   An autosomal recessive form of keratitis-ichthyosis-deafness syndrome,
DE   a disease characterized by the association of hyperkeratotic skin
DE   lesions with vascularizing keratitis and profound sensorineural
DE   hearing loss. KIDAR patients manifest ichthyosis, failure to thrive
DE   and developmental delay in childhood, thrombocytopenia, photophobia,
DE   and progressive hearing loss. Low plasma copper and ceruloplasmin
DE   levels have been reported in some patients.
SY   Desmons syndrome.
SY   Ichthyosiform erythroderma, corneal involvement, and deafness.
SY   KID syndrome, autosomal recessive.
DR   MIM; 242150; phenotype.
DR   MedGen; C1275089.
DR   MeSH; D003638.
DR   MeSH; D007057.
DR   MeSH; D007634.
KW   KW-0209:Deafness.
KW   KW-0977:Ichthyosis.
//
ID   Keratoconus 1.
AC   DI-01861
AR   KTCN1.
DE   Frequent corneal dystrophy with an incidence that varies from 50 to
DE   230 per 100'000. The cornea assumes a conical shape as a result of a
DE   progressive non-inflammatory thinning of the corneal stroma.
DE   Keratoconus is most often an isolated sporadic condition with cases of
DE   autosomal dominant and autosomal recessive transmission.
DR   MIM; 148300; phenotype.
DR   MedGen; C1835677.
//
ID   Keratoconus 9.
AC   DI-05225
AR   KTCN9.
DE   An autosomal dominant form of keratoconus, a common degenerative
DE   corneal disease characterized by progressive, non-inflammatory
DE   thinning of the corneal stroma, corneal ectasia, and cone-shaped
DE   corneal protrusion that results in reduced vision.
DR   MIM; 617928; phenotype.
DR   MedGen; CN244547.
DR   MeSH; D007640.
//
ID   Keratoderma, palmoplantar, Bothnian type.
AC   DI-03900
AR   PPKB.
DE   A dermatological disorder characterized by diffuse non-epidermolytic
DE   hyperkeratosis of the skin of palms and soles. PPKB is frequently
DE   complicated by fungal infections.
DR   MIM; 600231; phenotype.
DR   MedGen; C1838359.
DR   MeSH; D053546.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, Nagashima type.
AC   DI-04005
AR   PPKN.
DE   An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis
DE   characterized by well-demarcated diffuse erythematous hyperkeratosis
DE   expanding onto the dorsal surfaces of the palms and feet and the
DE   Achilles tendon area. Hyperkeratosis is mild and non-progressive.
DR   MIM; 615598; phenotype.
DR   MedGen; C3810072.
DR   MedGen; CN183094.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, non-epidermolytic.
AC   DI-00894
AR   NEPPK.
DE   A dermatological disorder characterized by well-demarcated
DE   hyperkeratosis is present over the palms and soles. A red band is
DE   frequently present at the periphery of the keratosis. It is usually
DE   non-transgredient, with a sharp demarcation of the lesions at the
DE   wrists.
SY   Nonepidermolytic palmoplantar keratoderma.
SY   Nonepidermolytic Unna-Thost disease.
SY   Non-epidermolytic Unna-Thost disease.
SY   Tylosis.
DR   MIM; 600962; phenotype.
DR   MedGen; C1833030.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, non-epidermolytic, focal 1.
AC   DI-02590
AR   FNEPPK1.
DE   A dermatological disorder characterized by non-epidermolytic
DE   palmoplantar keratoderma limited to the pressure points on the balls
DE   of the feet, with later mild involvement on the palms. Oral, genital
DE   and follicular keratotic lesions are often present.
SY   Focal nonepidermolytic palmoplantar keratoderma.
SY   Keratoderma, focal nonepidermolytic palmoplantar.
SY   PPKFNE.
DR   MIM; 613000; phenotype.
DR   MedGen; C2751804.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, punctate 1A.
AC   DI-03540
AR   PPKP1A.
DE   An autosomal dominant dermatological disorder characterized by
DE   multiple hyperkeratotic, centrally indented, papules that develop in
DE   early adolescence, or later, and are irregularly distributed on the
DE   palms and soles (other palmoplantar keratoses have mostly diffuse
DE   hyperkeratinization). In mechanically irritated areas, confluent
DE   plaques can be found. Interfamilial and intrafamilial severity shows
DE   broad variation. In some cases, PPKP1 is associated with the
DE   development of early- and late-onset malignancies, including squamous
DE   cell carcinoma.
SY   Keratodermia palmoplantaris papulosa Buschke-Fischer-Brauer type.
SY   Keratosis palmoplantaris papulosa.
SY   Keratosis punctate palmoplantaris Buschke-Fisher-Brauer type.
SY   KPPP1.
SY   PPKP1.
SY   Punctate palmoplantar keratoderma type I.
SY   Punctate palmoplantar keratoderma type IA.
DR   MIM; 148600; phenotype.
DR   MedGen; C1835662.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, striate 2.
AC   DI-00896
AR   SPPK2.
DE   A dermatological disorder characterized by thickening of the skin on
DE   the palms (linear pattern) and the soles (island-like pattern) and
DE   flexor aspect of the fingers. Abnormalities of the nails, the teeth
DE   and the hair are rarely present.
SY   Keratoderma palmoplantar striate form II.
SY   Keratosis palmoplantaris striata II.
SY   KPPS2.
SY   PPKS2.
SY   Striate palmoplantar keratoderma II.
DR   MIM; 612908; phenotype.
DR   MedGen; C1852127.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, striate 3.
AC   DI-00897
AR   SPPK3.
DE   A dermatological disorder characterized by thickening of the stratum
DE   corneum and epidermal layers on palms and soles. There is no
DE   involvement of non-palmoplantar skin, and both hair and nails are
DE   normal.
SY   Keratosis palmoplantaris striata III.
SY   PPKS3.
SY   Striate palmoplantar keratoderma III.
DR   MIM; 607654; phenotype.
DR   MedGen; C1843302.
DR   MedGen; C2931123.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, with deafness.
AC   DI-00898
AR   PPKDFN.
DE   An autosomal dominant disorder characterized by the association of
DE   palmoplantar hyperkeratosis with progressive, bilateral, high-
DE   frequency, sensorineural deafness.
DR   MIM; 148350; phenotype.
DR   MedGen; C1835672.
DR   MeSH; D007645.
KW   KW-0209:Deafness.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal.
AC   DI-00899
AR   PKKSCC.
DE   A recessive syndrome characterized by XX (female to male) SRY-
DE   independent sex reversal, palmoplantar hyperkeratosis and
DE   predisposition to squamous cell carcinoma of the skin.
SY   Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal.
DR   MIM; 610644; phenotype.
DR   MedGen; C2674504.
DR   MedGen; C3149931.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoderma-ichthyosis-deafness syndrome, autosomal recessive.
AC   DI-06486
AR   KDIDAR.
DE   An autosomal recessive disorder characterized by severe palmoplantar
DE   keratoderma, generalized ichthyosis, and sensorineural bilateral
DE   hearing loss. Additional variable features include contractures, mild
DE   bleeding diathesis, and psychomotor retardation.
SY   ARKID syndrome.
DR   MIM; 620009; phenotype.
DR   MedGen; CN315949.
DR   MeSH; D006319.
DR   MeSH; D007057.
DR   MeSH; D007645.
KW   KW-0209:Deafness.
KW   KW-0977:Ichthyosis.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratoendothelitis fugax hereditaria.
AC   DI-05200
AR   KEFH.
DE   An autosomal dominant corneal disease that periodically, and
DE   fleetingly, affects the corneal endothelium, stroma, and vision,
DE   eventually leading to central corneal stromal opacities in some
DE   patients. The disease is characterized by unilateral attacks of ocular
DE   pain, pericorneal injection, and photophobia. The acute symptoms
DE   vanish in 1-2 days but vision remains blurry for several weeks. The
DE   attacks start at the age of 3-12 years and can affect either eye. They
DE   generally decrease in frequency and get milder with age.
SY   Keratitis fugax hereditaria.
DR   MIM; 148200; phenotype.
DR   MedGen; C1835697.
DR   MeSH; D007634.
//
ID   Keratolytic winter erythema.
AC   DI-05321
AR   KWE.
DE   An autosomal dominant genodermatosis characterized by recurrent
DE   episodes of palmoplantar erythema and epidermal peeling presenting
DE   seasonal variation. KWE manifests during childhood. Skin lesions may
DE   spread to the dorsum of hands and feet and to the interdigital spaces.
DE   Lower legs, knees and thighs may also be involved. A less common
DE   finding is a slowly migratory, annular erythema that is seen mostly on
DE   the extremities. Between flares, the skin can appear unremarkable.
DE   Itching can occur, and hyperhidrosis, associated with a pungent odor,
DE   is invariably present. Formation of vesicles is rare, whereas
DE   keratolysis that causes the formation of dry blisters is regularly
DE   seen. Cold weather, moisture, febrile diseases, and physical and
DE   mental stress can trigger exacerbations. In severely affected
DE   individuals, skin manifestations persist unremittingly. Penetrance of
DE   the disease is high, but expressivity is variable, even within the
DE   same family.
SY   Erythrokeratolysis hiemalis.
SY   Oudtshoorn skin disease.
DR   MIM; 148370; phenotype.
DR   MedGen; C0406756.
DR   MeSH; D004890.
//
ID   Keratosis follicularis spinulosa decalvans X-linked.
AC   DI-01862
AR   KFSDX.
DE   A rare disorder affecting the skin and the eye. Affected men show
DE   thickening of the skin of the neck, ears, and extremities, especially
DE   the palms and soles, loss of eyebrows, eyelashes and beard, thickening
DE   of the eyelids with blepharitis and ectropion, and corneal
DE   degeneration.
SY   Keratosis follicularis spinulosa decalvans cum ophiasi.
SY   Siemens-1 syndrome.
DR   MIM; 308800; phenotype.
DR   MedGen; C0343057.
DR   MeSH; D007642.
//
ID   Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.
AC   DI-02805
AR   KLICK.
DE   A keratinizing disorder characterized by ichthyosis, palmoplantar
DE   keratoderma with constricting bands around fingers, flexural
DE   deformities of fingers and keratotic papules in a linear distribution
DE   on the flexural side of large joints. Histological examination of the
DE   skin of affected individuals shows hypertrophy and hyperplasia of the
DE   spinous, granular and horny epidermal layer.
SY   KLICK genodermatosis.
SY   KLICK syndrome.
DR   MIM; 601952; phenotype.
DR   MedGen; C1866029.
DR   MeSH; D007642.
KW   KW-0977:Ichthyosis.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Keratosis pilaris atrophicans.
AC   DI-04889
AR   KPA.
DE   A group of rare genodermatoses characterized by keratotic follicular
DE   papules, variable degrees of inflammation, and secondary atrophic
DE   scarring. Most cases are associated with an atopic diathesis and
DE   keratosis pilaris on the extensor extremities. KPA is comprised of
DE   three distinct clinical subtypes: keratosis pilaris atrophicans
DE   faciei, atrophoderma vermiculatum, and keratosis follicularis
DE   spinulosa decalvans. Affected individuals may present with features
DE   overlapping the 3 subtypes.
DR   MIM; 604093; phenotype.
DR   MedGen; C0263383.
DR   MeSH; D007642.
//
ID   Keratosis, seborrheic.
AC   DI-00625
AR   KERSEB.
DE   A common benign skin tumor. Seborrheic keratoses usually begin with
DE   the appearance of one or more sharply defined, light brown, flat
DE   macules. The lesions may be sparse or numerous. As they initially
DE   grow, they develop a velvety to finely verrucous surface, followed by
DE   an uneven warty surface with multiple plugged follicles and a dull or
DE   lackluster appearance.
DR   MIM; 182000; phenotype.
DR   MedGen; C0022603.
DR   MeSH; D017492.
//
ID   Keutel syndrome.
AC   DI-01864
AR   KTLS.
DE   An autosomal recessive disorder characterized by abnormal cartilage
DE   calcification, peripheral pulmonary stenosis neural hearing loss and
DE   midfacial hypoplasia.
DR   MIM; 245150; phenotype.
DR   MedGen; C1855607.
//
ID   Khan-Khan-Katsanis syndrome.
AC   DI-05588
AR   3KS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   multiple congenital anomalies affecting the ocular, renal, skeletal,
DE   and sometimes cardiac systems, defects in urogenital and limb
DE   morphogenesis, poor overall growth, microcephaly, and global
DE   developmental delay.
SY   3K syndrome.
DR   MIM; 618460; phenotype.
DR   MedGen; CN258822.
DR   MeSH; D000015.
//
ID   Kilquist syndrome.
AC   DI-05956
AR   KILQS.
DE   An autosomal recessive, multisystem disorder characterized by severe
DE   global developmental delay, sensorineural hearing loss, poor overall
DE   growth, mild facial dysmorphism, gastrointestinal anomalies such as
DE   gastroesophageal reflux or midgut malrotation, and a striking lack of
DE   tear fluid, saliva, and sweat.
DR   MIM; 619080; phenotype.
DR   MedGen; CN293532.
DR   MeSH; D000015.
DR   MeSH; D006319.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Kindler syndrome.
AC   DI-01865
AR   KNDLRS.
DE   An autosomal recessive skin disorder characterized by skin blistering,
DE   photosensitivity, progressive poikiloderma, and extensive skin
DE   atrophy. Additional clinical features include gingival erosions,
DE   ocular, esophageal, gastrointestinal and urogenital involvement, and
DE   an increased risk of mucocutaneous malignancy.
SY   Bullous acrokeratotic poikiloderma of Kindler and Weary.
SY   Poikiloderma congenital with bullae Weary type.
SY   Poikiloderma hereditary acrokeratotic.
DR   MIM; 173650; phenotype.
DR   MedGen; C0406556.
DR   MedGen; C0406557.
DR   MeSH; D012868.
//
ID   King-Denborough syndrome.
AC   DI-06230
AR   KDS.
DE   An autosomal dominant disorder characterized by the triad of
DE   dysmorphic features, congenital myopathy, and susceptibility to
DE   malignant hyperthermia. Variable expressivity has been reported in
DE   several cases.
SY   King syndrome.
DR   MIM; 619542; phenotype.
DR   MedGen; C1840365.
DR   MeSH; D008305.
//
ID   KINSSHIP syndrome.
AC   DI-06095
AR   KINS.
DE   An autosomal dominant disease characterized by developmental delay,
DE   impaired intellectual development, seizures, short stature, mesomelic
DE   dysplasia, dysmorphic facial features, horseshoe or hypoplastic
DE   kidney, and failure to thrive.
SY   Mesomelic dysplasia, AFF3-related.
SY   Mesomelic dysplasia, Steichen-Gersdorf type.
DR   MIM; 619297; phenotype.
DR   MedGen; CN296671.
DR   MeSH; D004392.
DR   MeSH; D008607.
DR   MeSH; D014564.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Kleefstra syndrome 1.
AC   DI-01348
AR   KLEFS1.
DE   A form of Kleefstra syndrome, an autosomal dominant disease
DE   characterized by variable intellectual disability, psychomotor
DE   developmental delay, seizures, behavioral abnormalities, and facial
DE   dysmorphisms. KLEFS1 patients additionally manifest
DE   brachy(micro)cephaly, congenital heart defects, and urogenital
DE   defects.
SY   9q- syndrome.
SY   Chromosome 9q34.3 deletion syndrome.
SY   Chromosome 9q subtelomeric deletion syndrome.
DR   MIM; 610253; phenotype.
DR   MedGen; C0795833.
DR   MeSH; D006330.
DR   MeSH; D008607.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Kleefstra syndrome 2.
AC   DI-05142
AR   KLEFS2.
DE   A form of Kleefstra syndrome, an autosomal dominant disease
DE   characterized by variable intellectual disability, psychomotor
DE   developmental delay, seizures, behavioral abnormalities, and facial
DE   dysmorphisms.
DR   MIM; 617768; phenotype.
DR   MedGen; CN617858.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Klippel-Feil syndrome 1, autosomal dominant.
AC   DI-02534
AR   KFS1.
DE   A skeletal disorder characterized by congenital fusion of cervical
DE   vertebrae. It is due to a failure in the normal segmentation of
DE   vertebrae during the early weeks of fetal development. The clinical
DE   triad consists of short neck, low posterior hairline, and limited neck
DE   movement. Deafness is a feature in some cases and may be of
DE   sensorineural, conductive, or mixed type.
SY   Cervical vertebral fusion autosomal dominant.
SY   Cervical vertebral fusion congenital.
SY   Congenital Klippel-Feil segment.
SY   Fused cervical segments congenital.
SY   Isolated Klippel-Feil syndrome.
SY   Klippel-Feil malformation.
SY   Klippel-Feil sequence.
DR   MIM; 118100; phenotype.
DR   MedGen; C1861689.
DR   MeSH; D007714.
//
ID   Klippel-Feil syndrome 2, autosomal recessive.
AC   DI-03989
AR   KFS2.
DE   A skeletal disorder characterized by congenital fusion of cervical
DE   vertebrae. It is due to a failure in the normal segmentation of
DE   vertebrae during the early weeks of fetal development. The clinical
DE   triad consists of short neck, low posterior hairline, and limited neck
DE   movement.
SY   Cervical vertebral fusion autosomal recessive.
SY   KFS autosomal recessive.
DR   MIM; 214300; phenotype.
DR   MedGen; C1859209.
DR   MeSH; D007714.
//
ID   Klippel-Feil syndrome 3, autosomal dominant.
AC   DI-02973
AR   KFS3.
DE   A skeletal disorder characterized by congenital fusion of cervical
DE   vertebrae. It is due to a failure in the normal segmentation of
DE   vertebrae during the early weeks of fetal development. The clinical
DE   triad consists of short neck, low posterior hairline, and limited neck
DE   movement.
DR   MIM; 613702; phenotype.
DR   MedGen; C3150967.
DR   MeSH; D007714.
//
ID   Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism.
AC   DI-04523
AR   KFS4.
DE   A form of Klippel-Feil syndrome, a skeletal disorder characterized by
DE   congenital fusion of cervical vertebrae. It is due to a failure in the
DE   normal segmentation of vertebrae during the early weeks of fetal
DE   development. The clinical triad consists of short neck, low posterior
DE   hairline, and limited neck movement. KFS4 features additionally
DE   include myopathy, mild short stature, microcephaly, and distinctive
DE   facies.
DR   MIM; 616549; phenotype.
DR   MedGen; CN232561.
DR   MeSH; D007714.
//
ID   Klippel-Trenaunay syndrome.
AC   DI-01866
AR   KTS.
DE   Congenital disease characterized by malformations of capillary (98% of
DE   KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and
DE   soft tissue hypertrophy that leads to large cutaneous hemangiomata
DE   with hypertrophy of the related bones and soft tissues.
DR   MIM; 149000; phenotype.
DR   MedGen; C0022739.
//
ID   Kniest dysplasia.
AC   DI-01867
AR   KD.
DE   Moderately severe chondrodysplasia phenotype that results from
DE   mutations in the COL2A1 gene. Characteristics of the disorder include
DE   a short trunk and extremities, mid-face hypoplasia, cleft palate,
DE   myopia, retinal detachment, and hearing loss.
SY   Kniest syndrome.
SY   KS.
SY   Metatropic dwarfism type II.
DR   MIM; 156550; phenotype.
DR   MedGen; C0265279.
//
ID   Knobloch syndrome 1.
AC   DI-01868
AR   KNO1.
DE   A developmental disorder primarily characterized by typical eye
DE   abnormalities, including high myopia, cataracts, dislocated lens,
DE   vitreoretinal degeneration, and retinal detachment, with occipital
DE   skull defects, which can range from occipital encephalocele to occult
DE   cutis aplasia.
SY   KNO.
SY   Retinal detachment and occipital encephalocele.
DR   MIM; 267750; phenotype.
DR   MedGen; C1849409.
DR   MeSH; D004677.
DR   MeSH; D012163.
//
ID   Knobloch syndrome 2.
AC   DI-06463
AR   KNO2.
DE   An autosomal dominant form of Knobloch syndrome characterized by high
DE   myopia, vitreoretinal degeneration, retinal detachment, occipital
DE   encephalocele or scalp lesions, and mild to severe psychomotor delay.
DR   MIM; 618458; phenotype.
DR   MedGen; C5676897.
DR   MeSH; D004677.
DR   MeSH; D012163.
//
ID   Kohlschuetter-Toenz syndrome.
AC   DI-03440
AR   KTZS.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay, early-onset intractable seizures, spasticity, and
DE   amelogenesis imperfecta affecting both primary and secondary teeth and
DE   causing yellow or brown discoloration of the teeth. Although the
DE   phenotype is consistent, there is variability. Intellectual disability
DE   is related to the severity of seizures, and the disorder can thus be
DE   considered an epileptic encephalopathy. Some infants show normal
DE   development until seizure onset, whereas others are delayed from
DE   birth. The most severely affected individuals have profound
DE   intellectual disability, never acquire speech, and become bedridden
DE   early in life.
SY   Kohlschutter-Tonz syndrome.
DR   MIM; 226750; phenotype.
DR   MedGen; C0406740.
DR   MeSH; D000567.
DR   MeSH; D003704.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Koolen-De Vries syndrome.
AC   DI-05560
AR   KDVS.
DE   An autosomal dominant, multisystem disorder characterized by
DE   hypotonia, developmental delay, moderate to severe intellectual
DE   disability, and distinctive dysmorphic features including tall, broad
DE   forehead, long face, upslanting palpebral fissures, epicanthal folds,
DE   tubular nose with bulbous nasal tip, and large ears. Expressive
DE   language development is particularly impaired compared with receptive
DE   language or motor skills. Additional features include social and
DE   friendly behavior, epilepsy, musculoskeletal anomalies, congenital
DE   heart defects, urogenital malformations, and ectodermal anomalies.
SY   Chromosome 17q21.31 deletion syndrome.
SY   Microdeletion 17q21.31 syndrome.
DR   MIM; 610443; phenotype.
DR   MedGen; C1864871.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Kosaki overgrowth syndrome.
AC   DI-04560
AR   KOGS.
DE   A syndrome characterized by somatic overgrowth, distinctive facial
DE   features, hyperelastic and fragile skin, and progressive neurologic
DE   deterioration with white matter lesions on brain imaging.
SY   Skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration.
DR   MIM; 616592; phenotype.
DR   MedGen; CN233141.
DR   MeSH; D006130.
//
ID   Kowarski syndrome.
AC   DI-01869
AR   KWKS.
DE   A syndrome clinically characterized by short stature associated with
DE   bioinactive growth hormone, normal or slightly increased growth
DE   hormone secretion, pathologically low insulin-like growth factor 1
DE   levels, and normal catch-up growth on growth hormone replacement
DE   therapy.
SY   Biodefective growth hormone.
SY   Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin.
DR   MIM; 262650; phenotype.
DR   MedGen; C1849779.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Krabbe disease.
AC   DI-00647
AR   KRB.
DE   An autosomal recessive disorder characterized by insufficient
DE   catabolism of several galactolipids that are important for normal
DE   myelin production. Four clinical forms are recognized. The infantile
DE   form accounts for 90% of cases. It manifests before six months of age
DE   with irritability, spasticity, arrest of motor and mental development,
DE   and bouts of temperature elevation without infection. This is followed
DE   by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits,
DE   and mental regression, which progresses to a severe decerebrate
DE   condition with no voluntary movements and death from respiratory
DE   infections or cerebral hyperpyrexia before 2 years of age. Cases with
DE   later onset present with unexplained blindness, weakness and
DE   sensorimotor peripheral neuropathy, mental deterioration and death.
SY   Galactosylceramide beta-galactosidase deficiency.
SY   GALC deficiency.
SY   GCL.
SY   GLD.
SY   Globoid cell leukoencephalopathy.
DR   MIM; 245200; phenotype.
DR   MedGen; C0023521.
DR   MeSH; D007965.
KW   KW-1026:Leukodystrophy.
//
ID   Krabbe disease, atypical, due to saposin A deficiency.
AC   DI-01197
AR   KRBSAPA.
DE   An autosomal recessive disorder of galactosylceramide metabolism.
DE   Clinical features include neurologic regression around age 3 months,
DE   loss of spontaneous movements, hyporeflexia, generalized brain
DE   atrophy, and diffuse white matter dysmyelination.
SY   Saposin A deficiency.
DR   MIM; 611722; phenotype.
DR   MedGen; C2673266.
DR   MeSH; D007965.
//
ID   Kufor-Rakeb syndrome.
AC   DI-01870
AR   KRS.
DE   A rare form of autosomal recessive juvenile or early-onset, levodopa-
DE   responsive parkinsonism. In addition to typical parkinsonian signs,
DE   clinical manifestations of Kufor-Rakeb syndrome include behavioral
DE   problems, facial tremor, pyramidal tract dysfunction, supranuclear
DE   gaze palsy, and dementia.
SY   KRPPD.
SY   Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia.
SY   PARK9.
SY   Parkinson disease 9.
SY   Parkinson disease autosomal recessive 9.
DR   MIM; 606693; phenotype.
DR   MedGen; C1847640.
DR   MeSH; D020734.
KW   KW-0908:Parkinsonism.
//
ID   Kuru.
AC   DI-01871
AR   KURU.
DE   Kuru is transmitted during ritualistic cannibalism, among natives of
DE   the New Guinea highlands. Patients exhibit various movement disorders
DE   like cerebellar abnormalities, rigidity of the limbs, and clonus.
DE   Emotional lability is present, and dementia is conspicuously absent.
DE   Death usually occurs from 3 to 12 month after onset.
DR   MIM; 245300; phenotype.
DR   MedGen; C1855588.
//
ID   Kury-Isidor syndrome.
AC   DI-06353
AR   KURIS.
DE   An autosomal dominant neurodevelopmental disorder characterized mainly
DE   by mild global developmental delay apparent from infancy or early
DE   childhood, and behavioral problems, including autism in most patients.
DE   Intellectual development may be mildly delayed, borderline, or even
DE   normal. Additional variable systemic features may include poor overall
DE   growth, hypotonia, distal skeletal anomalies, seizures, and non-
DE   specific dysmorphic facial features.
DR   MIM; 619762; phenotype.
DR   MedGen; CN306819.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   L-2-hydroxyglutaric aciduria.
AC   DI-00626
AR   L2HGA.
DE   A rare autosomal recessive disorder clinically characterized by mild
DE   psychomotor delay in the first years of life, followed by progressive
DE   cerebellar ataxia, dysarthria and moderate to severe intellectual
DE   disability. Diagnosis is based on the presence of an excess of L-2-
DE   hydroxyglutaric acid in urine, blood and cerebrospinal fluid.
SY   L-2-hydroxyglutaric acidemia.
DR   MIM; 236792; phenotype.
DR   MedGen; C1855995.
DR   MeSH; D008661.
//
ID   L-ferritin deficiency.
AC   DI-04015
AR   LFTD.
DE   A condition characterized by low levels of ferritin in serum and
DE   tissues in the absence of other hematological symptoms. Seizures and
DE   mild neuropsychologic impairment may manifest in individuals with
DE   complete ferritin deficiency.
SY   L-ferritin deficiency dominant and recessive.
DR   MIM; 615604; phenotype.
DR   MedGen; C3810090.
DR   MedGen; CN183734.
DR   MeSH; D019189.
//
ID   Lacrimal duct defect.
AC   DI-04319
AR   LCDD.
DE   A condition resulting in the imbalance between tear production and
DE   tear drainage. Infants typically manifest persistent epiphora and/or
DE   recurrent infections of the lacrimal pathway, such as conjunctivitis.
DE   LCDD is caused by failure of the nasolacrimal duct to open into the
DE   inferior meatus.
SY   Lacrimal duct obstruction.
SY   Nasolacrimal duct obstruction.
DR   MIM; 149700; phenotype.
DR   MedGen; C1835612.
DR   MeSH; D007767.
//
ID   Lacrimo-auriculo-dento-digital syndrome 1.
AC   DI-00627
AR   LADD1.
DE   A form of lacrimo-auriculo-dento-digital syndrome, an autosomal
DE   dominant disease characterized by aplastic/hypoplastic lacrimal and
DE   salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia
DE   and enamel hypoplasia, and distal limb segments anomalies. In addition
DE   to these cardinal features, facial dysmorphism, malformations of the
DE   kidney and respiratory system and abnormal genitalia have been
DE   reported. Craniosynostosis and severe syndactyly are not observed.
SY   Lacrimoauriculodentodigital syndrome.
SY   LADD syndrome.
SY   LADD syndrome 1.
SY   Levy-Hollister syndrome.
DR   MIM; 149730; phenotype.
DR   MedGen; C0265269.
DR   MeSH; D000015.
DR   MeSH; D007766.
DR   MeSH; D014071.
DR   MeSH; D034381.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0953:Lacrimo-auriculo-dento-digital syndrome.
//
ID   Lacrimo-auriculo-dento-digital syndrome 2.
AC   DI-06572
AR   LADD2.
DE   A form of lacrimo-auriculo-dento-digital syndrome, an autosomal
DE   dominant disease characterized by aplastic/hypoplastic lacrimal and
DE   salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia
DE   and enamel hypoplasia, and distal limb segments anomalies. In addition
DE   to these cardinal features, facial dysmorphism, malformations of the
DE   kidney and respiratory system and abnormal genitalia have been
DE   reported. Craniosynostosis and severe syndactyly are not observed.
SY   Lacrimoauriculodentodigital syndrome 2.
SY   LADD syndrome 2.
DR   MIM; 620192; phenotype.
DR   MedGen; CN322764.
DR   MeSH; D000015.
DR   MeSH; D007766.
DR   MeSH; D014071.
DR   MeSH; D034381.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0953:Lacrimo-auriculo-dento-digital syndrome.
//
ID   Lacrimo-auriculo-dento-digital syndrome 3.
AC   DI-06573
AR   LADD3.
DE   A form of lacrimo-auriculo-dento-digital syndrome, an autosomal
DE   dominant disease characterized by aplastic/hypoplastic lacrimal and
DE   salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia
DE   and enamel hypoplasia, and distal limb segments anomalies. In addition
DE   to these cardinal features, facial dysmorphism, malformations of the
DE   kidney and respiratory system and abnormal genitalia have been
DE   reported. Craniosynostosis and severe syndactyly are not observed.
DR   MIM; 620193; phenotype.
DR   MedGen; CN322763.
DR   MeSH; D000015.
DR   MeSH; D007766.
DR   MeSH; D014071.
DR   MeSH; D034381.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0953:Lacrimo-auriculo-dento-digital syndrome.
//
ID   Lactate dehydrogenase B deficiency.
AC   DI-04441
AR   LDHBD.
DE   A condition with no deleterious effects on health. LDHBD is of
DE   interest to laboratory medicine mainly because it can cause
DE   misdiagnosis in those disorders in which elevation of serum LDH is
DE   expected.
DR   MIM; 614128; phenotype.
DR   MedGen; C1835592.
DR   MedGen; C3279904.
//
ID   Lamb-Shaffer syndrome.
AC   DI-04646
AR   LAMSHF.
DE   An autosomal dominant, neurodevelopmental disorder characterized by
DE   global developmental delay, intellectual disability, language and
DE   motor impairment, and distinct facial features. Additional variable
DE   skeletal abnormalities may also be present.
DR   MIM; 616803; phenotype.
DR   MedGen; CN235184.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Langer mesomelic dysplasia.
AC   DI-01876
AR   LMD.
DE   Autosomal recessive rare skeletal dysplasia characterized by severe
DE   short stature owing to shortening and maldevelopment of the mesomelic
DE   and rhizomelic segments of the limbs. Associated malformations are
DE   rarely reported and intellect is normal in all affected subjects
DE   reported to date.
DR   MIM; 249700; phenotype.
DR   MedGen; C0432230.
//
ID   Laron syndrome.
AC   DI-01877
AR   LARS.
DE   A severe form of growth hormone insensitivity characterized by growth
DE   impairment, short stature, dysfunctional growth hormone receptor, and
DE   failure to generate insulin-like growth factor I in response to growth
DE   hormone.
SY   Growth hormone insensitivity syndrome.
SY   Growth hormone receptor deficiency.
SY   Laron dwarfism.
SY   Laron type pituitary dwarfism I.
SY   Pituitary dwarfism II.
DR   MIM; 262500; phenotype.
DR   MedGen; C0271568.
DR   MeSH; D046150.
KW   KW-0242:Dwarfism.
//
ID   Larsen syndrome.
AC   DI-01214
AR   LRS.
DE   An osteochondrodysplasia characterized by large-joint dislocations and
DE   characteristic craniofacial abnormalities. The cardinal features of
DE   the condition are dislocations of the hip, knee and elbow joints, with
DE   equinovarus or equinovalgus foot deformities. Spatula-shaped fingers,
DE   most marked in the thumb, are also present. Craniofacial anomalies
DE   include hypertelorism, prominence of the forehead, a depressed nasal
DE   bridge, and a flattened midface. Cleft palate and short stature are
DE   often associated features. Spinal anomalies include scoliosis and
DE   cervical kyphosis. Hearing loss is a well-recognized complication.
DR   MIM; 150250; phenotype.
DR   MedGen; C0175778.
DR   MedGen; C1835564.
DR   MeSH; D002972.
DR   MeSH; D004204.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Late-onset retinal degeneration.
AC   DI-01880
AR   LORD.
DE   Autosomal dominant disorder characterized by onset in the fifth to
DE   sixth decade with night blindness and punctate yellow-white deposits
DE   in the retinal fundus, progressing to severe central and peripheral
DE   degeneration, with choroidal neovascularization and chorioretinal
DE   atrophy.
DR   MIM; 605670; phenotype.
DR   MedGen; C1854065.
//
ID   Lateral meningocele syndrome.
AC   DI-04541
AR   LMNS.
DE   A very rare skeletal disorder with facial anomalies, hypotonia and
DE   neurologic dysfunction due to meningocele, a protrusion of the
DE   meninges, unaccompanied by neural tissue, through a bony defect in the
DE   skull or vertebral column. LMNS facial features include hypertelorism
DE   and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia,
DE   micrognathia, high and narrow palate, low-set ears and a hypotonic
DE   appearance. Additional variable features are connective tissue
DE   abnormalities, aortic dilation, a high-pitched nasal voice, wormian
DE   bones and osteolysis.
SY   Lehman syndrome.
SY   LMS.
DR   MIM; 130720; phenotype.
DR   MedGen; C1851710.
DR   MeSH; D008588.
//
ID   Lathosterolosis.
AC   DI-01881
AR   LATHOS.
DE   An autosomal recessive disorder characterized by multiple congenital
DE   anomalies affecting axial and appendicular skeleton, liver, central
DE   nervous and urogenital systems, and lysosomal storage.
DR   MIM; 607330; phenotype.
DR   MedGen; C1846421.
DR   MeSH; D043202.
//
ID   Laurence-Moon syndrome.
AC   DI-04372
AR   LNMS.
DE   An autosomal recessive syndrome characterized by progressive
DE   spinocerebellar degeneration, spastic paraplegia, intellectual
DE   disability, hypogonadism, dwarfism, and chorioretinopathy.
DE   Trichomegaly is absent.
SY   Laurence-Moon-Biedl Syndrome.
DR   MIM; 245800; phenotype.
DR   MedGen; C0023138.
DR   MeSH; D007849.
KW   KW-0242:Dwarfism.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0991:Intellectual disability.
//
ID   Laurin-Sandrow syndrome.
AC   DI-04275
AR   LSS.
DE   A rare autosomal dominant disorder characterized by polysyndactyly of
DE   hands and/or feet, mirror image duplication of the feet, nasal
DE   defects, and loss of identity between fibula and tibia. Some patients
DE   do not have nasal abnormalities (segmental Laurin-Sandrow syndrome).
SY   Duplication of fibula and ulna with absence of tibia and radius.
SY   MIP.
SY   Mirror hands and feet with nasal defects.
SY   Mirror-image polydactyly.
SY   Sandrow syndrome.
SY   Segmental Laurin-Sandrow syndrome.
SY   Tetramelic mirror-image polydactyly.
SY   TMIP.
DR   MIM; 135750; phenotype.
DR   MedGen; C1851100.
DR   MeSH; D017880.
//
ID   Leber congenital amaurosis 1.
AC   DI-00629
AR   LCA1.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
SY   Leber congenital amaurosis type I.
DR   MIM; 204000; phenotype.
DR   MedGen; C2931258.
DR   MedGen; CN034165.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 10.
AC   DI-00637
AR   LCA10.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 611755; phenotype.
DR   MedGen; C1857821.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-1186:Ciliopathy.
//
ID   Leber congenital amaurosis 11.
AC   DI-03048
AR   LCA11.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 613837; phenotype.
DR   MedGen; C1840284.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 12.
AC   DI-00638
AR   LCA12.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 610612; phenotype.
DR   MedGen; C1857743.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 13.
AC   DI-00639
AR   LCA13.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 612712; phenotype.
DR   MedGen; C2675186.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 14.
AC   DI-02683
AR   LCA14.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
SY   Retinitis pigmentosa juvenile LRAT-related.
SY   Severe early-onset retinal dystrophy LRAT-related.
DR   MIM; 613341; phenotype.
DR   MedGen; C2750063.
DR   MedGen; C2750064.
DR   MedGen; C2750065.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 15.
AC   DI-03049
AR   LCA15.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 613843; phenotype.
DR   MedGen; C3151206.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 16.
AC   DI-03236
AR   LCA16.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 614186; phenotype.
DR   MedGen; C3280062.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 17.
AC   DI-03831
AR   LCA17.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or almost absent pupillary
DE   responses, photophobia, high hyperopia and keratoconus.
DR   MIM; 615360; phenotype.
DR   MedGen; C3715164.
DR   MedGen; CN178541.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 18.
AC   DI-04324
AR   LCA18.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or almost absent pupillary
DE   responses, photophobia, high hyperopia and keratoconus.
DR   MIM; 608133; phenotype.
DR   MedGen; CN224078.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 19.
AC   DI-05621
AR   LCA19.
DE   A form of Leber congenital amaurosis, a severe dystrophy of the
DE   retina, typically becoming evident in the first years of life. Visual
DE   function is usually poor and often accompanied by nystagmus, sluggish
DE   or near-absent pupillary responses, photophobia, high hyperopia and
DE   keratoconus. LCA19 is an autosomal recessive form characterized by
DE   reduced vision in early childhood and severely reduced responses of
DE   both rods and cones.
DR   MIM; 618513; phenotype.
DR   MedGen; CN261157.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 2.
AC   DI-00630
AR   LCA2.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
SY   Leber congenital amaurosis type II.
DR   MIM; 204100; phenotype.
DR   MedGen; C1859844.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 3.
AC   DI-00631
AR   LCA3.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 604232; phenotype.
DR   MedGen; C1858677.
DR   MedGen; C2751780.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 4.
AC   DI-00632
AR   LCA4.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 604393; phenotype.
DR   MedGen; C1858386.
DR   MedGen; C2751763.
DR   MedGen; C2751764.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 5.
AC   DI-00633
AR   LCA5.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 604537; phenotype.
DR   MedGen; C1858301.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 6.
AC   DI-00634
AR   LCA6.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 613826; phenotype.
DR   MedGen; C1854260.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 7.
AC   DI-00635
AR   LCA7.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 613829; phenotype.
DR   MedGen; C3151192.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 8.
AC   DI-00636
AR   LCA8.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 613835; phenotype.
DR   MedGen; C3151202.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis 9.
AC   DI-03534
AR   LCA9.
DE   A severe dystrophy of the retina, typically becoming evident in the
DE   first years of life. Visual function is usually poor and often
DE   accompanied by nystagmus, sluggish or near-absent pupillary responses,
DE   photophobia, high hyperopia and keratoconus.
DR   MIM; 608553; phenotype.
DR   MedGen; C1837873.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber congenital amaurosis with early-onset deafness.
AC   DI-05197
AR   LCAEOD.
DE   An autosomal dominant disease characterized by severe retinal
DE   degeneration and sensorineural hearing loss. Symptoms occur within the
DE   first decade of life. Onset at birth is observed in some patients.
DR   MIM; 617879; phenotype.
DR   MedGen; CN807950.
DR   MeSH; D054062.
DR   MeSH; D057130.
KW   KW-0209:Deafness.
KW   KW-0901:Leber congenital amaurosis.
//
ID   Leber hereditary optic neuropathy.
AC   DI-00640
AR   LHON.
DE   A maternally inherited form of Leber hereditary optic neuropathy, a
DE   mitochondrial disease resulting in bilateral painless loss of central
DE   vision due to selective degeneration of the retinal ganglion cells and
DE   their axons. The disorder shows incomplete penetrance and male
DE   predominance. Cardiac conduction defects and neurological defects have
DE   also been described in some LHON patients. LHON results from primary
DE   mitochondrial DNA mutations affecting the respiratory chain complexes.
SY   Leber optic atrophy.
SY   LOA.
SY   Optic atrophy Leber type.
DR   MIM; 535000; phenotype.
DR   MedGen; C0917796.
DR   MeSH; D029242.
KW   KW-0429:Leber hereditary optic neuropathy.
//
ID   Leber hereditary optic neuropathy with dystonia.
AC   DI-00641
AR   LDYT.
DE   A form of Leber hereditary optic neuropathy, a mitochondrial disease
DE   resulting in bilateral painless loss of central vision due to
DE   selective degeneration of the retinal ganglion cells and their axons.
DE   The disorder shows incomplete penetrance and male predominance. LDYT
DE   is characterized by the association of optic atrophy and central
DE   vision loss with dystonia.
SY   Familial dystonia with visual failure and striatal lucencies.
SY   Leber optic atrophy and dystonia.
SY   Marsden syndrome.
DR   MIM; 500001; phenotype.
DR   MedGen; C1839040.
DR   MeSH; D029242.
KW   KW-0429:Leber hereditary optic neuropathy.
KW   KW-1023:Dystonia.
//
ID   Leber hereditary optic neuropathy, autosomal recessive 1.
AC   DI-06147
AR   LHONAR1.
DE   An autosomal recessive form of Leber hereditary optic neuropathy, a
DE   mitochondrial disease resulting in bilateral painless loss of central
DE   vision due to selective degeneration of the retinal ganglion cells and
DE   their axons. The disorder shows incomplete penetrance and male
DE   predominance.
SY   MC1DN38.
SY   Mitochondrial complex I deficiency, nuclear type 38.
DR   MIM; 619382; phenotype.
DR   MedGen; CN297341.
DR   MeSH; D029242.
KW   KW-0429:Leber hereditary optic neuropathy.
//
ID   Leber hereditary optic neuropathy, modifier.
AC   DI-06012
AR   LOAM.
DE   A form of Leber hereditary optic neuropathy, a mitochondrial disease
DE   resulting in bilateral painless loss of central vision due to
DE   selective degeneration of the retinal ganglion cells and their axons.
DE   The disorder shows incomplete penetrance and male predominance. Leber
DE   hereditary optic neuropathy is maternally inherited in most case and
DE   results from primary mitochondrial DNA mutations affecting the
DE   respiratory chain complexes. Mutations in modifier genes can influence
DE   disease expression. LOAM exhibits increased penetrance and earlier age
DE   of onset compared to Leber optic atrophy caused by MTND4 primary
DE   mutations, due to the action of mutations in PRICKLE3 as a modifier
DE   gene.
SY   Leber hereditary optic neuropathy, modifier of.
SY   Leber hereditary optic neuropathy susceptibility.
SY   LOAS.
SY   Modifier of Leber hereditary optic neuropathy.
DR   MIM; 308905; phenotype.
DR   MedGen; C1839891.
DR   MeSH; D029242.
KW   KW-0429:Leber hereditary optic neuropathy.
//
ID   Lecithin-cholesterol acyltransferase deficiency.
AC   DI-00642
AR   LCATD.
DE   A disorder of lipoprotein metabolism characterized by inadequate
DE   esterification of plasmatic cholesterol. Two clinical forms are
DE   recognized: complete LCAT deficiency and fish-eye disease. LCATD is
DE   generally referred to the complete form which is associated with
DE   absence of both alpha and beta LCAT activities resulting in
DE   esterification anomalies involving both HDL (alpha-LCAT activity) and
DE   LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal
DE   opacities, target cell hemolytic anemia, and proteinuria with renal
DE   failure.
SY   Familial LCAT deficiency.
SY   FLD.
SY   Lecithin:cholesterol acyltransferase deficiency.
SY   Norum disease.
DR   MIM; 245900; phenotype.
DR   MedGen; C0023195.
DR   MeSH; D007863.
//
ID   Left ventricular non-compaction 1.
AC   DI-00823
AR   LVNC1.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC1 is an autosomal dominant
DE   condition.
SY   Left ventricular non-compaction with or without congenital heart defects.
SY   Non-compaction of left ventricular myocardium isolated autosomal dominant type 1.
SY   Non-compaction of left ventricular myocardium with congenital heart defects.
DR   MIM; 604169; phenotype.
DR   MedGen; C1858725.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 10.
AC   DI-03871
AR   LVNC10.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC10 is an autosomal dominant
DE   condition.
SY   Left ventricular noncompaction 10.
DR   MIM; 615396; phenotype.
DR   MedGen; C3715165.
DR   MedGen; CN179849.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 3.
AC   DI-01489
AR   LVNC3.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC3 is an autosomal dominant
DE   condition.
SY   Left ventricular noncompaction 3.
DR   MIM; 601493; phenotype.
DR   MedGen; C3152137.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 5.
AC   DI-05185
AR   LVNC5.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC5 is an autosomal dominant
DE   condition.
DR   MIM; 613426; phenotype.
DR   MedGen; C3150690.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 7.
AC   DI-03659
AR   LVNC7.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC7 is an autosomal dominant
DE   condition.
SY   Left ventricular noncompaction 7.
DR   MIM; 615092; phenotype.
DR   MedGen; C3554496.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 8.
AC   DI-03859
AR   LVNC8.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC8 is an autosomal dominant
DE   condition.
SY   Left ventricular noncompaction 8.
DR   MIM; 615373; phenotype.
DR   MedGen; C3809288.
DR   MedGen; CN178849.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left ventricular non-compaction 9.
AC   DI-03886
AR   LVNC9.
DE   A form of left ventricular non-compaction, a cardiomyopathy due to
DE   myocardial morphogenesis arrest and characterized by a hypertrophic
DE   left ventricle, a severely thickened 2-layered myocardium, numerous
DE   prominent trabeculations, deep intertrabecular recesses, and poor
DE   systolic function. Clinical manifestations are variable. Some affected
DE   individuals experience no symptoms at all, others develop heart
DE   failure. In some cases, left ventricular non-compaction is associated
DE   with other congenital heart anomalies. LVNC9 is an autosomal dominant
DE   condition.
SY   Left ventricular noncompaction 9.
DR   MIM; 611878; phenotype.
DR   MedGen; C3808145.
DR   MedGen; CN179850.
DR   MeSH; D056830.
KW   KW-0122:Cardiomyopathy.
//
ID   Left-right axis malformations.
AC   DI-01883
AR   LRAM.
DE   The defect includes left pulmonary isomerism, with cardiac anomalies
DE   characterized by complete atrioventricular canal defect and
DE   hypoplastic left ventricle, and interrupted inferior vena cava.
DR   MIM; 601877; gene+phenotype.
DR   MedGen; C1866091.
KW   KW-1056:Heterotaxy.
//
ID   Legg-Calve-Perthes disease.
AC   DI-01885
AR   LCPD.
DE   Characterized by loss of circulation to the femoral head, resulting in
DE   avascular necrosis in a growing child. Clinical pictures of the
DE   disease vary, depending on the phase of disease progression through
DE   ischemia, revascularization, fracture and collapse, and repair and
DE   remodeling of the bone.
SY   Legg-Perthes disease.
SY   Perthes disease.
DR   MIM; 150600; phenotype.
DR   MedGen; C0023234.
//
ID   Legius syndrome.
AC   DI-02046
AR   LGSS.
DE   An autosomal dominant syndrome characterized mainly by cafe-au-lait
DE   macules without neurofibromas or other tumor manifestations of
DE   neurofibromatosis type 1, axillary freckling, and macrocephaly.
DE   Additional clinical manifestations include Noonan-like facial
DE   dysmorphism, lipomas, learning disabilities, and features of
DE   attention-deficit hyperactivity disorder.
SY   Neurofibromatosis 1-like syndrome.
SY   NFLS.
DR   MIM; 611431; phenotype.
DR   MedGen; C1969623.
DR   MeSH; D019080.
//
ID   Leigh syndrome.
AC   DI-01886
AR   LS.
DE   An early-onset progressive neurodegenerative disorder characterized by
DE   the presence of focal, bilateral lesions in one or more areas of the
DE   central nervous system including the brainstem, thalamus, basal
DE   ganglia, cerebellum and spinal cord. Clinical features depend on which
DE   areas of the central nervous system are involved and include subacute
DE   onset of psychomotor retardation, hypotonia, ataxia, weakness, vision
DE   loss, eye movement abnormalities, seizures, and dysphagia.
SY   Leigh Disease.
SY   Leigh syndrome due to mitochondrial complex I deficiency.
SY   Leigh syndrome due to mitochondrial complex II deficiency.
SY   Leigh syndrome due to mitochondrial complex III deficiency.
SY   Leigh syndrome due to mitochondrial complex IV deficiency.
SY   Leigh syndrome due to mitochondrial complex V deficiency.
SY   Necrotizing encephalopathy infantile subacute of Leigh.
SY   SNE.
DR   MIM; 256000; phenotype.
DR   MedGen; C0023264.
DR   MedGen; C1838951.
DR   MedGen; C1850597.
DR   MedGen; C1850598.
DR   MedGen; C1850600.
DR   MedGen; C2931891.
DR   MeSH; D007888.
KW   KW-0431:Leigh syndrome.
//
ID   Lenz-Majewski hyperostotic dwarfism.
AC   DI-04022
AR   LMHD.
DE   A syndrome of intellectual disability and multiple congenital
DE   anomalies that features generalized craniotubular hyperostosis. LMHD
DE   is characterized by the combination of sclerosing bone dysplasia,
DE   intellectual disability and distinct craniofacial, dental, cutaneous
DE   and distal limb anomalies. The progressive generalized hyperostosis
DE   associated with this syndrome affects the cranium, the vertebrae and
DE   the diaphyses of tubular bones, leading to severe growth restriction.
SY   Lenz-Majewski syndrome.
SY   LMS.
DR   MIM; 151050; phenotype.
DR   MedGen; C0432269.
DR   MeSH; D004392.
DR   MeSH; D008607.
DR   MeSH; D015576.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   LEOPARD syndrome 1.
AC   DI-01888
AR   LPRD1.
DE   A disorder characterized by lentigines, electrocardiographic
DE   conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE   abnormalities of genitalia, retardation of growth, and sensorineural
DE   deafness.
DR   MIM; 151100; phenotype.
DR   MedGen; C0175704.
DR   MedGen; CN074218.
DR   MeSH; D044542.
KW   KW-0209:Deafness.
//
ID   LEOPARD syndrome 2.
AC   DI-01889
AR   LPRD2.
DE   A disorder characterized by lentigines, electrocardiographic
DE   conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE   abnormalities of genitalia, retardation of growth, and sensorineural
DE   deafness.
DR   MIM; 611554; phenotype.
DR   MedGen; C1969056.
DR   MeSH; D044542.
KW   KW-0209:Deafness.
//
ID   LEOPARD syndrome 3.
AC   DI-02991
AR   LPRD3.
DE   A disorder characterized by lentigines, electrocardiographic
DE   conduction abnormalities, ocular hypertelorism, pulmonic stenosis,
DE   abnormalities of genitalia, retardation of growth, and sensorineural
DE   deafness.
DR   MIM; 613707; phenotype.
DR   MedGen; C3150971.
DR   MeSH; D044542.
KW   KW-0209:Deafness.
//
ID   Leprechaunism.
AC   DI-01890
AR   LEPRCH.
DE   Represents the most severe form of insulin resistance syndrome,
DE   characterized by intrauterine and postnatal growth retardation and
DE   death in early infancy. Inheritance is autosomal recessive.
SY   Donohue syndrome.
DR   MIM; 246200; phenotype.
DR   MedGen; C0265344.
DR   MedGen; C0271689.
//
ID   Leptin deficiency.
AC   DI-03637
AR   LEPD.
DE   A rare disease characterized by low levels of serum leptin, severe
DE   hyperphagia and intractable obesity from an early age.
SY   Leptin deficiency or dysfunction.
SY   Morbid obesity.
SY   Morbid obesity due to leptin deficiency.
SY   Obesity due to congenital leptin deficiency.
DR   MIM; 614962; phenotype.
DR   MedGen; C3554224.
DR   MedGen; CN069970.
DR   MeSH; D009767.
KW   KW-0550:Obesity.
//
ID   Leptin receptor deficiency.
AC   DI-03638
AR   LEPRD.
DE   A rare disease characterized by normal levels of serum leptin,
DE   hyperphagia and severe obesity from an early age. Additional features
DE   include alterations in immune function, and delayed puberty due to
DE   hypogonadotropic hypogonadism.
SY   Morbid obesity.
SY   Morbid obesity due to leptin receptor deficiency.
DR   MIM; 614963; phenotype.
DR   MedGen; C3554225.
DR   MedGen; CN120495.
DR   MeSH; D009767.
KW   KW-0550:Obesity.
//
ID   Leri-Weill dyschondrosteosis.
AC   DI-01891
AR   LWD.
DE   Dominantly inherited skeletal dysplasia characterized by moderate
DE   short stature predominantly because of short mesomelic limb segments.
DE   It is often associated with the Madelung deformity of the wrist,
DE   comprising bowing of the radius and dorsal dislocation of the distal
DE   ulna.
DR   MIM; 127300; phenotype.
DR   MedGen; C0152441.
DR   MedGen; C0265309.
DR   MedGen; CN031459.
//
ID   Lesch-Nyhan syndrome.
AC   DI-01892
AR   LNS.
DE   Characterized by complete lack of enzymatic activity that results in
DE   hyperuricemia, choreoathetosis, intellectual disability, and
DE   compulsive self-mutilation.
DR   MIM; 300322; phenotype.
DR   MedGen; C0023374.
DR   MedGen; C1845892.
DR   MedGen; C1845893.
//
ID   Lessel-Kreienkamp syndrome.
AC   DI-06006
AR   LESKRES.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, intellectual disability of variable degree, and speech and
DE   language delay apparent from infancy or early childhood. Behavioral
DE   disorders are observed in most patients. Additional variable features
DE   include seizures, hypotonia, gait abnormalities, visual and cardiac
DE   defects, and non-specific facial dysmorphism.
DR   MIM; 619149; phenotype.
DR   MedGen; CN294831.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Lessel-Kubisch syndrome.
AC   DI-05687
AR   LSKB.
DE   An autosomal recessive progeroid syndrome characterized by short
DE   stature, pinched facial features, prematurely gray hair, scleroderma-
DE   like skin changes, small kidneys and consecutive kidney failure,
DE   followed by severe arterial hypertension.
DR   MIM; 618681; phenotype.
DR   MedGen; CN262921.
DR   MeSH; D019588.
//
ID   Lethal congenital contracture syndrome 1.
AC   DI-00644
AR   LCCS1.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy, and congenital non-
DE   progressive joint contractures (arthrogryposis). The contractures can
DE   involve the upper or lower limbs and/or the vertebral column, leading
DE   to various degrees of flexion or extension limitations evident at
DE   birth. LCCS1 patients manifest early fetal hydrops and akinesia,
DE   micrognathia, pulmonary hypoplasia, pterygia, and multiple joint
DE   contractures. It leads to prenatal death.
SY   Multiple contracture syndrome Finnish type.
DR   MIM; 253310; phenotype.
DR   MedGen; C1854664.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 10.
AC   DI-04766
AR   LCCS10.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth.
DR   MIM; 617022; phenotype.
DR   MedGen; CN237173.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 11.
AC   DI-04874
AR   LCCS11.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth.
DR   MIM; 617194; phenotype.
DR   MedGen; CN239054.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 2.
AC   DI-00645
AR   LCCS2.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy, and congenital non-
DE   progressive joint contractures (arthrogryposis). The contractures can
DE   involve the upper or lower limbs and/or the vertebral column, leading
DE   to various degrees of flexion or extension limitations evident at
DE   birth. LCCS2 patients manifest craniofacial/ocular findings, lack of
DE   hydrops, multiple pterygia, and fractures, as well as a normal
DE   duration of pregnancy and a unique feature of a markedly distended
DE   urinary bladder (neurogenic bladder defect). The phenotype suggests a
DE   spinal cord neuropathic etiology.
SY   Israeli Bedouin multiple contracture syndrome type A.
DR   MIM; 607598; phenotype.
DR   MedGen; C1843478.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 3.
AC   DI-01893
AR   LCCS3.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy, and congenital non-
DE   progressive joint contractures (arthrogryposis). The contractures can
DE   involve the upper or lower limbs and/or the vertebral column, leading
DE   to various degrees of flexion or extension limitations evident at
DE   birth. LCCS3 patients present at birth with severe multiple joint
DE   contractures and severe muscle wasting and atrophy, mainly in the
DE   legs. Death occurs minutes to hours after birth due to respiratory
DE   insufficiency. The phenotype can be distinguished from that of LCCS1
DE   by the absence of hydrops, fractures and multiple pterygia, and from
DE   LCCS2 by the absence of neurogenic bladder defect.
SY   Multiple contractural syndrome Israeli Bedouin type B.
DR   MIM; 611369; phenotype.
DR   MedGen; C1969655.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 4.
AC   DI-03609
AR   LCCS4.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth.
DR   MIM; 614915; phenotype.
DR   MedGen; C3554046.
DR   MedGen; CN160485.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 5.
AC   DI-03854
AR   LCCS5.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth.
SY   Autosomal recessive lethal centronuclear myopathy.
DR   MIM; 615368; phenotype.
DR   MedGen; C3809272.
DR   MedGen; CN178709.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 6.
AC   DI-04327
AR   LCCS6.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth. LCCS6 features
DE   include severe polyhydramnios and absent stomach, in addition to
DE   multiple contracture deformities.
DR   MIM; 616248; phenotype.
DR   MedGen; CN227921.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 7.
AC   DI-04378
AR   LCCS7.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth. LCCS7 is a
DE   severe axoglial disease characterized by congenital distal joint
DE   contractures, polyhydramnios, reduced fetal movements, and motor
DE   paralysis leading to death early in the neonatal period.
DR   MIM; 616286; phenotype.
DR   MedGen; CN228895.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 8.
AC   DI-04380
AR   LCCS8.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth. LCCS8 is an
DE   axoglial form of arthrogryposis multiplex congenita, characterized by
DE   congenital distal joint contractures, reduced fetal movements, and
DE   severe motor paralysis leading to death early in the neonatal period.
DR   MIM; 616287; phenotype.
DR   MedGen; CN228896.
DR   MeSH; D001176.
//
ID   Lethal congenital contracture syndrome 9.
AC   DI-04504
AR   LCCS9.
DE   A form of lethal congenital contracture syndrome, an autosomal
DE   recessive disorder characterized by degeneration of anterior horn
DE   neurons, extreme skeletal muscle atrophy and congenital non-
DE   progressive joint contractures. The contractures can involve the upper
DE   or lower limbs and/or the vertebral column, leading to various degrees
DE   of flexion or extension limitations evident at birth.
DR   MIM; 616503; phenotype.
DR   MedGen; CN235582.
DR   MeSH; D001176.
//
ID   Leucine-induced hypoglycemia.
AC   DI-01896
AR   LIH.
DE   Rare cause of hypoglycemia and is described as a condition in which
DE   symptomatic hypoglycemia is provoked by high protein feedings.
DE   Hypoglycemia is also elicited by administration of oral or intravenous
DE   infusions of a single amino acid, leucine.
SY   Leucine-sensitive hypoglycemia of infancy.
DR   MIM; 240800; phenotype.
DR   MedGen; C0271714.
//
ID   Leukemia, acute lymphoblastic.
AC   DI-03076
AR   ALL.
DE   A subtype of acute leukemia, a cancer of the white blood cells. ALL is
DE   a malignant disease of bone marrow and the most common malignancy
DE   diagnosed in children. The malignant cells are lymphoid precursor
DE   cells (lymphoblasts) that are arrested in an early stage of
DE   development. The lymphoblasts replace the normal marrow elements,
DE   resulting in a marked decrease in the production of normal blood
DE   cells. Consequently, anemia, thrombocytopenia, and neutropenia occur
DE   to varying degrees. The lymphoblasts also proliferate in organs other
DE   than the marrow, particularly the liver, spleen, and lymphnodes.
SY   ALL1.
SY   Childhood acute lymphoblastic leukemia.
SY   Leukemia acute lymphoblastic 1.
SY   Leukemia acute lymphoblastic B-hyperdiploid.
SY   Leukemia acute lymphocytic.
SY   Leukemia acute lymphocytic 1.
SY   Leukemia B-cell acute lymphoblastic.
SY   Leukemia T-cell acute lymphoblastic.
DR   MIM; 613065; phenotype.
DR   MedGen; C1961102.
DR   MedGen; C2751594.
DR   MedGen; C2751595.
DR   MedGen; C2751596.
DR   MedGen; C2751597.
DR   MedGen; C2751598.
DR   MeSH; D054198.
//
ID   Leukemia, acute lymphoblastic, 3.
AC   DI-03959
AR   ALL3.
DE   A subtype of acute leukemia, a cancer of the white blood cells. Acute
DE   lymphoblastic anemia is a malignant disease of bone marrow and the
DE   most common malignancy diagnosed in children. The malignant cells are
DE   lymphoid precursor cells (lymphoblasts) that are arrested in an early
DE   stage of development. The lymphoblasts replace the normal marrow
DE   elements, resulting in a marked decrease in the production of normal
DE   blood cells. Consequently, anemia, thrombocytopenia, and neutropenia
DE   occur to varying degrees. The lymphoblasts also proliferate in organs
DE   other than the marrow, particularly the liver, spleen, and lymphnodes.
DR   MIM; 613065; phenotype.
DR   MedGen; C3809874.
DR   MeSH; D054198.
//
ID   Leukemia, acute myelogenous.
AC   DI-01171
AR   AML.
DE   A subtype of acute leukemia, a cancer of the white blood cells. AML is
DE   a malignant disease of bone marrow characterized by maturational
DE   arrest of hematopoietic precursors at an early stage of development.
DE   Clonal expansion of myeloid blasts occurs in bone marrow, blood, and
DE   other tissue. Myelogenous leukemias develop from changes in cells that
DE   normally produce neutrophils, basophils, eosinophils and monocytes.
SY   Acute myeloblastic leukemia.
SY   Acute myelocytic leukemia.
SY   Acute myeloid leukemia.
SY   Acute non-lymphoblastic leukemia.
SY   Acute non-lymphocytic leukemia.
DR   MIM; 601626; phenotype.
DR   MedGen; C0023467.
DR   MedGen; C3275959.
DR   MeSH; D015470.
//
ID   Leukemia, chronic lymphocytic.
AC   DI-01350
AR   CLL.
DE   A chronic leukemia in which functionally incompetent B-lymphocytes
DE   progressively accumulate in the bone marrow, blood, and lymphoid
DE   tissues. The clinical evolution of the disorder is heterogeneous, with
DE   some patients having indolent disease and others having aggressive
DE   disease and short survival.
SY   B-cell chronic lymphocytic Leukemia.
SY   Chronic lymphatic leukemia.
SY   Chronic lymphoid leukemia.
DR   MIM; 151400; phenotype.
DR   MedGen; C0023434.
DR   MeSH; D015451.
//
ID   Leukemia, chronic myeloid.
AC   DI-03735
AR   CML.
DE   A clonal myeloproliferative disorder of a pluripotent stem cell with a
DE   specific cytogenetic abnormality, the Philadelphia chromosome (Ph),
DE   involving myeloid, erythroid, megakaryocytic, B-lymphoid, and
DE   sometimes T-lymphoid cells, but not marrow fibroblasts.
SY   Chronic myelogenous leukemia.
DR   MIM; 608232; phenotype.
DR   MedGen; C0023473.
DR   MeSH; D015464.
//
ID   Leukemia, chronic myeloid, atypical.
AC   DI-03829
AR   ACML.
DE   A myeloproliferative disorder that shares clinical and laboratory
DE   features with chronic myeloid leukemia but lacks the pathognomonic
DE   Philadelphia chromosome and the corresponding BCR/ABL1 fusion
DE   transcript. Features include myeloid predominance in the bone marrow,
DE   myeloid proliferation and low leukocyte alkaline phosphatase value,
DE   splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged
DE   spleen may also be associated with a hypermetabolic state, fever,
DE   weight loss, and chronic fatigue. The enlarged liver may contribute to
DE   the patient's weight loss.
SY   Atypical chronic myeloid leukemia BCR-ABL1 negative.
DR   MIM; 608232; phenotype.
DR   MedGen; C0349640.
DR   MeSH; D015464.
//
ID   Leukemia, juvenile myelomonocytic.
AC   DI-01851
AR   JMML.
DE   An aggressive pediatric myelodysplastic syndrome/myeloproliferative
DE   disorder characterized by malignant transformation in the
DE   hematopoietic stem cell compartment with proliferation of
DE   differentiated progeny. Patients have splenomegaly, enlarged lymph
DE   nodes, rashes, and hemorrhages.
SY   Juvenile chronic myelogenous leukemia.
DR   MIM; 607785; phenotype.
DR   MedGen; C0023480.
DR   MedGen; C0349639.
DR   MeSH; D054429.
//
ID   Leukocyte adhesion deficiency 1.
AC   DI-01897
AR   LAD1.
DE   LAD1 patients have recurrent bacterial infections and their leukocytes
DE   are deficient in a wide range of adhesion-dependent functions.
DR   MIM; 116920; phenotype.
DR   MedGen; C0398738.
DR   MedGen; C1861766.
//
ID   Leukocyte adhesion deficiency 3.
AC   DI-01898
AR   LAD3.
DE   A disorder characterized by recurrent bacterial infections without pus
DE   formation, leukocytosis and major bleeding disorders.
SY   IADD.
SY   Integrin activation deficiency disease.
SY   LAD1V.
SY   Leukocyte adhesion deficiency 1 variant.
DR   MIM; 612840; phenotype.
DR   MedGen; C2748536.
//
ID   Leukodystrophy and acquired microcephaly with or without dystonia.
AC   DI-04639
AR   LDAMD.
DE   An autosomal recessive neurologic disorder characterized by profound
DE   intellectual disability, dystonia, postnatal microcephaly, and white
DE   matter abnormalities consistent with leukodystrophy.
DR   MIM; 616763; phenotype.
DR   MedGen; CN235017.
DR   MeSH; D020279.
KW   KW-0991:Intellectual disability.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, childhood-onset, remitting.
AC   DI-06414
AR   CORLK.
DE   An autosomal dominant disorder characterized by loss of developmental
DE   abilities, demyelination and leukodystrophy on brain imaging,
DE   triggered by fever or infection in the first year of life.
DE   Abnormalities almost completely resolve over a period of 1 to 2 years,
DE   and affected children regain normal development accompanied by
DE   remyelination.
DR   MIM; 619864; phenotype.
DR   MedGen; CN312034.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, demyelinating, autosomal dominant, adult-onset.
AC   DI-00646
AR   ADLD.
DE   A slowly progressive and fatal demyelinating leukodystrophy,
DE   presenting in the fourth or fifth decade of life. Clinically
DE   characterized by early autonomic abnormalities, pyramidal and
DE   cerebellar dysfunction, and symmetric demyelination of the CNS. It
DE   differs from multiple sclerosis and other demyelinating disorders in
DE   that neuropathology shows preservation of oligodendroglia in the
DE   presence of subtotal demyelination and lack of astrogliosis.
SY   Multiple sclerosis-like disorder.
SY   Pelizaeus-Merzbacher disease autosomal dominant.
SY   Pelizaeus-Merzbacher disease late-onset type.
DR   MIM; 169500; phenotype.
DR   MedGen; C1868512.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 1.
AC   DI-00648
AR   HLD1.
DE   An X-linked recessive disorder of the central nervous system in which
DE   myelin is not formed properly. Clinically characterized by nystagmus,
DE   spastic quadriplegia, ataxia, and developmental delay.
SY   Brain sclerosis diffuse familial.
SY   Pelizaeus-Merzbacher brain sclerosis.
SY   Pelizaeus-Merzbacher disease.
SY   PMD.
SY   Sudanophilic leukodystrophy Paelizeus-Merzbacher type.
DR   MIM; 312080; phenotype.
DR   MedGen; C0205711.
DR   MeSH; D020371.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 10.
AC   DI-04450
AR   HLD10.
DE   An autosomal recessive neurologic disorder characterized by postnatal
DE   microcephaly, severely delayed psychomotor development,
DE   hypomyelination, and reduced cerebral white-matter volume.
DR   MIM; 616420; phenotype.
DR   MedGen; CN231317.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 11.
AC   DI-04497
AR   HLD11.
DE   An autosomal recessive neurologic disorder characterized by brain
DE   hypomyelination, delayed psychomotor development, intellectual
DE   disability, tremor and other neurologic symptoms. Some patients may
DE   additionally manifest non-neurologic features, particularly dental
DE   abnormalities and hypogonadotropic hypogonadism.
SY   4H leukodystrophy 3.
DR   MIM; 616494; phenotype.
DR   MedGen; CN231734.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 12.
AC   DI-04619
AR   HLD12.
DE   An autosomal recessive neurologic disorder characterized by
DE   developmental delay, spasticity, truncal hypotonia, acquired
DE   microcephaly, intellectual disability with variable seizure disorder,
DE   accompanied by thin corpus callosum, paucity of white matter and
DE   delayed myelination.
DR   MIM; 616683; phenotype.
DR   MedGen; CN234869.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 13.
AC   DI-04695
AR   HLD13.
DE   An autosomal recessive neurodegenerative disorder with infantile
DE   onset, affecting mainly the central white matter. Clinical features
DE   include early feeding difficulties, global developmental delay,
DE   postnatal progressive microcephaly, truncal hypotonia, spasticity, and
DE   variable neurologic deficits, such as visual impairment.
DR   MIM; 616881; phenotype.
DR   MedGen; CN235881.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 14.
AC   DI-05211
AR   HLD14.
DE   An autosomal recessive, severe disorder characterized by atrophy of
DE   the basal ganglia and cerebellum, hypomyelination, severe
DE   developmental delay, typically without intentional movements and
DE   language development, and microcephaly. Almost all patients exhibit
DE   spasticity, extrapyramidal movement abnormalities, and severe drug-
DE   resistant epilepsy. Disease onset is early in infancy, and most
DE   patients die in the first years of life.
DR   MIM; 617899; phenotype.
DR   MedGen; CN845004.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 15.
AC   DI-05239
AR   HLD15.
DE   An autosomal recessive disorder characterized by hypomyelinating
DE   leukodystrophy with thinning of the corpus callosum. Clinical features
DE   include motor and cognitive impairment appearing in the first or
DE   second decade of life, dystonia, ataxia, spasticity, and dysphagia.
DE   Most patients develop severe optic atrophy, and some have hearing
DE   loss.
DR   MIM; 617951; phenotype.
DR   MedGen; CN244566.
DR   MeSH; D020279.
KW   KW-0523:Neurodegeneration.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 16.
AC   DI-05245
AR   HLD16.
DE   An autosomal dominant disorder characterized by hypomyelination,
DE   leukodystrophy, and thin corpus callosum observed on brain imaging.
DE   Clinical features include hypotonia, nystagmus, and mildly delayed
DE   motor development with onset in infancy, ataxic or broad-based gait,
DE   hyperreflexia, intention tremor, dysmetria, and a mild pyramidal
DE   syndrome. Some patients have cognitive impairment, whereas others may
DE   have normal cognition or mild intellectual disability with speech
DE   difficulties.
DR   MIM; 617964; phenotype.
DR   MedGen; CN244907.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 17.
AC   DI-05268
AR   HLD17.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus
DE   callosum, abnormal signals in the basal ganglia, and features
DE   suggesting hypo- or demyelination observed on brain imaging. Clinical
DE   manifestations include lack of development, absent speech,
DE   microcephaly, spasticity, seizures, and contractures.
DR   MIM; 618006; phenotype.
DR   MedGen; CN248514.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 18.
AC   DI-05549
AR   HLD18.
DE   An autosomal recessive disorder characterized by hypomyelinating
DE   leukodystrophy with progressive atrophy of the corpus callosum,
DE   thalami and cerebellum, and peripheral neuropathy. Clinical features
DE   include very poor psychomotor development, dystonia, severe
DE   spasticity, seizures, and failure to thrive.
DR   MIM; 618404; phenotype.
DR   MedGen; CN258344.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 19, transient infantile.
AC   DI-05713
AR   HLD19.
DE   An autosomal dominant disorder characterized by marked hypomyelination
DE   on brain imaging, congenital nystagmus, and motor delay manifesting in
DE   early infancy. Both neurologic impairment and abnormal brain imaging
DE   spontaneously resolve during childhood.
DR   MIM; 618688; phenotype.
DR   MedGen; CN263108.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 2.
AC   DI-00649
AR   HLD2.
DE   An autosomal recessive hypomyelinating leukodystrophy with symptoms of
DE   Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus,
DE   impaired motor development, ataxia, choreoathetotic movements,
DE   dysarthria, and progressive spasticity.
SY   Pelizaeus-Merzbacher-like disease autosomal recessive type 1.
SY   Pelizaeus-Merzbacher-like disease type 1.
SY   PMLD1.
SY   PMLDAR1.
DR   MIM; 608804; phenotype.
DR   MedGen; C1837355.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 20.
AC   DI-05951
AR   HLD20.
DE   An autosomal recessive disorder characterized by neuroregression and
DE   loss of motor, language and cognitive skills, after a normal early
DE   development. Disease onset is between 12 and 18 month of age. Patients
DE   show poor overall growth, microcephaly, feeding difficulties and
DE   spastic quadriplegia. Some patients may have seizures. Death in
DE   childhood may occur. Hypomyelinating leukodystrophy with subcortical
DE   and periventricular white matter abnormalities is seen on brain
DE   imaging.
DR   MIM; 619071; phenotype.
DR   MedGen; CN293420.
DR   MeSH; D020279.
KW   KW-0523:Neurodegeneration.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 21.
AC   DI-06097
AR   HLD21.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   global developmental delay, loss of motor, speech and cognitive
DE   milestones in the first decades of life, and diffuse hypomyelination
DE   of the white matter and atrophy of the cerebellum and corpus callosum
DE   observed on brain imaging. Clinical features include nystagmus,
DE   ataxia, dystonia, and spasticity. Other more variable features are
DE   feeding difficulties, poor overall growth with microcephaly, optic
DE   atrophy, and seizures.The disorder is progressive and may lead to
DE   premature death.
DR   MIM; 619310; phenotype.
DR   MedGen; CN296583.
DR   MeSH; D020279.
KW   KW-0523:Neurodegeneration.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 22.
AC   DI-06111
AR   HLD22.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, mildly impaired intellectual development, motor impairment,
DE   limb spasticity, dysarthria, and eye abnormalities including
DE   hypermetropia. Brain imaging shows hypomyelinating leukodystrophy.
DR   MIM; 619328; phenotype.
DR   MedGen; CN296799.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy.
AC   DI-06305
AR   HLD23.
DE   An autosomal recessive neurodegenerative disorder with systemic
DE   manifestations. Affected individuals show delayed motor development
DE   and ataxic gait in early childhood that progresses to spastic
DE   paraplegia with loss of ambulation in the first decades of life.
DE   Additional features include progressive sensorineural hearing loss,
DE   hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the
DE   first or second decades. Brain imaging shows hypomyelination, diffuse
DE   white matter abnormalities, and thin corpus callosum.
DR   MIM; 619688; phenotype.
DR   MedGen; CN305777.
DR   MeSH; D020279.
KW   KW-0122:Cardiomyopathy.
KW   KW-0209:Deafness.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 24.
AC   DI-06405
AR   HLD24.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay apparent in infancy, impaired intellectual development, and loss
DE   of developmental milestones and ambulation. Brain imaging shows non-
DE   progressive severe cerebral atrophy, ventriculomegaly, hypomyelinating
DE   leukodystrophy, and thinning of the corpus callosum.
DR   MIM; 619851; phenotype.
DR   MedGen; CN311638.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 25.
AC   DI-06609
AR   HLD25.
DE   A form of hypomyelinating leukodystrophy, a group of heterogeneous
DE   disorders characterized by persistent deficit of myelin observed on
DE   brain imaging. HLD25 is an autosomal dominant form with onset in early
DE   infancy and characterized by nystagmus, hypotonia, and delayed global
DE   development. Most patients show gradual clinical improvement over time
DE   with resolution of the nystagmus in early childhood. Many achieve
DE   developmental milestones and may have normal cognition, although some
DE   affected individuals may have persistent neurologic deficits. Brain
DE   imaging shows hypomyelination that may also improve with time.
DR   MIM; 620243; phenotype.
DR   MedGen; CN323365.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 26, with chondrodysplasia.
AC   DI-06624
AR   HLD26.
DE   A form of hypomyelinating leukodystrophy, a group of heterogeneous
DE   disorders characterized by persistent deficit of myelin observed on
DE   brain imaging. HLD26 is an autosomal recessive form characterized by
DE   severe psychomotor delay, limited or absent speech, abnormal
DE   development of brain white matter, corpus callosum hypoplasia, and
DE   cerebral atrophy. Other features include pre- and postnatal growth
DE   retardation, chondrodysplasia, and early-onset scoliosis.
DR   MIM; 620269; phenotype.
DR   MedGen; CN323397.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 3.
AC   DI-03001
AR   HLD3.
DE   A severe autosomal recessive hypomyelinating leukodystrophy
DE   characterized by early infantile onset of global developmental delay,
DE   lack of development, lack of speech acquisition, and peripheral
DE   spasticity associated with decreased myelination in the central
DE   nervous system.
DR   MIM; 260600; phenotype.
DR   MedGen; C1850053.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 4.
AC   DI-00650
AR   HLD4.
DE   A severe autosomal recessive hypomyelinating leukodystrophy.
DE   Clinically characterized by infantile-onset rotary nystagmus,
DE   progressive spastic paraplegia, neurologic regression, motor
DE   impairment, profound intellectual disability. Death usually occurs
DE   within the first two decades of life.
SY   MitCHAP60 disease.
SY   MitCHAP-60 disease.
SY   Mitochondrial HSP60 chaperonopathy.
DR   MIM; 612233; phenotype.
DR   MedGen; C2677109.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 5.
AC   DI-00651
AR   HLD5.
DE   A hypomyelinating leukodystrophy associated with congenital cataract.
DE   It is clinically characterized by congenital cataract, progressive
DE   neurologic impairment, and diffuse myelin deficiency. Affected
DE   individuals experience progressive pyramidal and cerebellar
DE   dysfunction, muscle weakness and wasting prevailingly in the lower
DE   limbs. Mental deficiency ranges from mild to moderate. HLD5 shows
DE   clinical variability, but features of hypomyelination combined with
DE   increased periventricular white matter water content are consistently
DE   observed.
SY   HCC.
SY   Hypomyelination with congenital cataract.
DR   MIM; 610532; phenotype.
DR   MedGen; C1864663.
DR   MedGen; C2674508.
DR   MeSH; D020279.
KW   KW-0898:Cataract.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 6.
AC   DI-03778
AR   HLD6.
DE   A neurologic disorder characterized by onset in infancy or early
DE   childhood of delayed motor development and gait instability, followed
DE   by extrapyramidal movement disorders, such as dystonia,
DE   choreoathetosis, rigidity, opisthotonus, and oculogyric crises,
DE   progressive spastic tetraplegia, ataxia, and, more rarely, seizures.
DE   Most patients have cognitive decline and speech delay, but some can
DE   function normally. Brain MRI shows a combination of hypomyelination,
DE   cerebellar atrophy, and atrophy or disappearance of the putamen.
SY   HABC.
SY   Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum.
DR   MIM; 612438; phenotype.
DR   MedGen; C2676244.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism.
AC   DI-03248
AR   HLD7.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   childhood onset of progressive motor decline manifest as spasticity,
DE   ataxia, tremor, and cerebellar signs, as well as mild cognitive
DE   regression. Other features may include hypodontia or oligodontia and
DE   hypogonadotropic hypogonadism. There is considerable inter- and
DE   intrafamilial variability.
SY   4H leukodystrophy 1.
SY   4H syndrome.
SY   ADDH.
SY   Ataxia delayed dentition and hypomyelination.
SY   Leukodystrophy hypomyelinating with hypodontia and hypogonadotropic hypogonadism 4H syndrome.
SY   Leukodystrophy with oligodontia.
SY   Leukoencephalopathy hypomyelinating with ataxia and delayed dentition.
SY   TACH.
SY   Tremor-ataxia with central hypomyelination.
DR   MIM; 607694; phenotype.
DR   MedGen; C2676243.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.
AC   DI-03308
AR   HLD8.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   early childhood onset of cerebellar ataxia and mild intellectual
DE   disabilities associated with diffuse hypomyelination apparent on brain
DE   MRI. Variable features include oligodontia and/or hypogonadotropic
DE   hypogonadism.
SY   4H leukodystrophy 2.
SY   Cerebellar hypoplasia with endosteal sclerosis.
DR   MIM; 614381; phenotype.
DR   MedGen; C3280644.
DR   MedGen; CN119427.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, hypomyelinating, 9.
AC   DI-04288
AR   HLD9.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   delayed psychomotor development, severe spasticity, nystagmus, and
DE   ataxia associated with diffuse hypomyelination apparent on brain MRI.
DR   MIM; 616140; phenotype.
DR   MedGen; CN224182.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukodystrophy, progressive, early childhood-onset.
AC   DI-05125
AR   PLDECO.
DE   A form of leukodystrophy, a disorder of myelin production or
DE   maintenance affecting the central nervous system. PELCO features
DE   include neurological regression between 6 and 13 months of age,
DE   truncal hypotonia, appendicular spasticity, dystonia, optic disk
DE   pallor, peripheral neuropathy and neurogenic bladder. Brain imaging
DE   shows progressive diffuse abnormal white matter signals, cerebral
DE   atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased
DE   myelination. PLDECO inheritance is autosomal recessive.
DR   MIM; 617762; phenotype.
DR   MedGen; CN603947.
DR   MeSH; D020279.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy with ataxia.
AC   DI-04040
AR   LKPAT.
DE   An autosomal recessive neurologic disorder with a characteristic
DE   pattern of white matter abnormalities on brain MRI. Affected
DE   individuals have prominent signal abnormalities and decreased apparent
DE   diffusion coefficient values in the posterior limbs of the internal
DE   capsules, middle cerebral peduncles, pyramidal tracts in the pons, and
DE   middle cerebellar peduncles, suggesting myelin microvacuolation.
DE   Clinical features include ataxia and unstable gait. More variable
DE   abnormalities may include visual field defects, headaches, and
DE   learning disabilities.
DR   MIM; 615651; phenotype.
DR   MedGen; C3810242.
DR   MedGen; CN184653.
DR   MeSH; D002524.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.
AC   DI-01899
AR   LBSL.
DE   Autosomal recessive disease and is defined on the basis of a highly
DE   characteristic constellation of abnormalities observed by magnetic
DE   resonance imaging and spectroscopy. Affected individuals develop
DE   slowly progressive cerebellar ataxia, spasticity, and dorsal column
DE   dysfunction, sometimes with a mild cognitive deficit or decline.
DR   MIM; 611105; phenotype.
DR   MedGen; C1970180.
//
ID   Leukoencephalopathy with dystonia and motor neuropathy.
AC   DI-02987
AR   LKDMN.
DE   A syndrome characterized by leukoencephalopathy, dystonic head tremor,
DE   spasmodic torticollis and reduced tendon reflexes in lower
DE   extremities. Additional features include hyposmia, pathologic saccadic
DE   eye movements, a slight hypoacusis, accumulation of branched-chain
DE   pristanic acid in plasma, and the presence of abnormal bile alcohol
DE   glucuronides in urine.
SY   Sterol carrier protein 2 deficiency.
DR   MIM; 613724; phenotype.
DR   MedGen; C3150990.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy with vanishing white matter 1.
AC   DI-00654
AR   VWM1.
DE   An autosomal recessive brain disease characterized by neurological
DE   features including progressive cerebellar ataxia, spasticity, and
DE   cognitive deficits. Brain imaging shows abnormal white matter that
DE   vanishes over time and is replaced by cerebrospinal fluid. Disease
DE   severity ranges from fatal infantile forms to adult forms without
DE   neurological deterioration. The disease is progressive with, in most
DE   individuals, additional episodes of rapid deterioration following
DE   febrile infections or minor head trauma. Death may occurs after a
DE   variable period after disease onset, usually following an episode of
DE   fever and coma. A subset of affected females with milder forms of the
DE   disease who survive to adolescence exhibit ovarian dysfunction. This
DE   variant of the disorder is called ovarioleukodystrophy.
SY   CACH.
SY   Childhood ataxia with central nervous system hypomyelinization.
SY   CLE.
SY   Cree leukoencephalopathy.
SY   Leukodystrophy with vanishing white matter.
SY   Leukoencephalopathy with vanishing white matter.
SY   Vanishing white matter disease.
SY   VWM.
DR   MIM; 603896; phenotype.
DR   MedGen; C1847967.
DR   MedGen; C1858991.
DR   MedGen; C2931489.
DR   MeSH; D056784.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy with vanishing white matter 2.
AC   DI-06648
AR   VWM2.
DE   An autosomal recessive brain disease characterized by neurological
DE   features including progressive cerebellar ataxia, spasticity, and
DE   cognitive deficits. Brain imaging shows abnormal white matter that
DE   vanishes over time and is replaced by cerebrospinal fluid. Disease
DE   severity ranges from fatal infantile forms to adult forms without
DE   neurological deterioration. The disease is progressive with, in most
DE   individuals, additional episodes of rapid deterioration following
DE   febrile infections or minor head trauma. Death may occurs after a
DE   variable period after disease onset, usually following an episode of
DE   fever and coma. A subset of affected females with milder forms of the
DE   disease who survive to adolescence exhibit ovarian dysfunction. This
DE   variant of the disorder is called ovarioleukodystrophy.
SY   Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure.
DR   MIM; 620312; phenotype.
DR   MedGen; CN327004.
DR   MeSH; D056784.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy with vanishing white matter 3.
AC   DI-06649
AR   VWM3.
DE   An autosomal recessive brain disease characterized by neurological
DE   features including progressive cerebellar ataxia, spasticity, and
DE   cognitive deficits. Brain imaging shows abnormal white matter that
DE   vanishes over time and is replaced by cerebrospinal fluid. Disease
DE   severity ranges from fatal infantile forms to adult forms without
DE   neurological deterioration. The disease is progressive with, in most
DE   individuals, additional episodes of rapid deterioration following
DE   febrile infections or minor head trauma. Death may occurs after a
DE   variable period after disease onset, usually following an episode of
DE   fever and coma. A subset of affected females with milder forms of the
DE   disease who survive to adolescence exhibit ovarian dysfunction. This
DE   variant of the disorder is called ovarioleukodystrophy.
SY   Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure.
DR   MIM; 620313; phenotype.
DR   MedGen; CN327005.
DR   MeSH; D056784.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy with vanishing white matter 4.
AC   DI-06650
AR   VWM4.
DE   An autosomal recessive brain disease characterized by neurological
DE   features including progressive cerebellar ataxia, spasticity, and
DE   cognitive deficits. Brain imaging shows abnormal white matter that
DE   vanishes over time and is replaced by cerebrospinal fluid. Disease
DE   severity ranges from fatal infantile forms to adult forms without
DE   neurological deterioration. The disease is progressive with, in most
DE   individuals, additional episodes of rapid deterioration following
DE   febrile infections or minor head trauma. Death may occurs after a
DE   variable period after disease onset, usually following an episode of
DE   fever and coma. A subset of affected females with milder forms of the
DE   disease who survive to adolescence exhibit ovarian dysfunction. This
DE   variant of the disorder is called ovarioleukodystrophy.
SY   Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure.
DR   MIM; 620314; phenotype.
DR   MedGen; CN327006.
DR   MeSH; D056784.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy with vanishing white matter 5.
AC   DI-06651
AR   VWM5.
DE   An autosomal recessive brain disease characterized by neurological
DE   features including progressive cerebellar ataxia, spasticity, and
DE   cognitive deficits. Brain imaging shows abnormal white matter that
DE   vanishes over time and is replaced by cerebrospinal fluid. Disease
DE   severity ranges from fatal infantile forms to adult forms without
DE   neurological deterioration. The disease is progressive with, in most
DE   individuals, additional episodes of rapid deterioration following
DE   febrile infections or minor head trauma. Death may occurs after a
DE   variable period after disease onset, usually following an episode of
DE   fever and coma. A subset of affected females with milder forms of the
DE   disease who survive to adolescence exhibit ovarian dysfunction. This
DE   variant of the disorder is called ovarioleukodystrophy.
SY   CLE.
SY   Cree leukoencephalopathy.
SY   Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure.
DR   MIM; 620315; phenotype.
DR   MedGen; CN327007.
DR   MeSH; D056784.
KW   KW-1026:Leukodystrophy.
//
ID   Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate.
AC   DI-05532
AR   ARLIAK.
DE   An autosomal recessive disorder characterized by acute, reversible
DE   neurological deterioration during febrile illness. Patients exhibit
DE   reversible leukoencephalopathy and increased urinary excretion of
DE   alpha-ketoglutarate.
DR   MIM; 618384; phenotype.
DR   MedGen; CN258281.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy, cystic, without megalencephaly.
AC   DI-02726
AR   LCWM.
DE   An infantile-onset syndrome of cerebral leukoencephalopathy. Affected
DE   newborns develop microcephaly and neurologic abnormalities including
DE   psychomotor impairment, seizures and sensorineural hearing impairment.
DE   The brain shows multifocal white matter lesions, anterior temporal
DE   lobe subcortical cysts, pericystic abnormal myelination,
DE   ventriculomegaly and intracranial calcifications.
DR   MIM; 612951; phenotype.
DR   MedGen; C2751843.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome.
AC   DI-05835
AR   LEUDEN.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay apparent in early childhood, cognitive impairment, ataxia, poor
DE   or absent speech with dysarthria, hypotonia, hypertonia,
DE   extrapyramidal signs, tremor, and abnormal involuntary movements.
DE   Affected individuals also exhibit neurological regression in the
DE   setting of febrile illness or infection. Many patients have seizures.
DE   Brain imaging shows diffuse white matter abnormalities with poor
DE   myelination.
SY   LEUDEN syndrome.
DR   MIM; 618877; phenotype.
DR   MedGen; CN280926.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy, hereditary diffuse, with spheroids 1.
AC   DI-03392
AR   HDLS1.
DE   An autosomal dominant adult-onset rapidly progressive
DE   neurodegenerative disorder characterized by variable behavioral,
DE   cognitive, and motor changes. Patients often die of dementia within 6
DE   years of onset. Brain imaging shows patchy abnormalities in the
DE   cerebral white matter, predominantly affecting the frontal and
DE   parietal lobes.
SY   ALSP.
SY   Autosomal dominant leukoencephalopathy with neuroaxonal spheroids.
SY   Familial dementia Neumann type.
SY   Familial progressive subcortical gliosis.
SY   GPSC.
SY   HDLS.
SY   Leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia.
SY   Leukoencephalopathy, diffuse hereditary, with spheroids.
SY   Subcortical gliosis of Neumann.
DR   MIM; 221820; phenotype.
DR   MedGen; C1857300.
DR   MedGen; C2673753.
DR   MeSH; D005911.
DR   MeSH; D056784.
KW   KW-0523:Neurodegeneration.
//
ID   Leukoencephalopathy, hereditary diffuse, with spheroids 2.
AC   DI-06298
AR   HDLS2.
DE   An autosomal dominant neurodegenerative disorder characterized by
DE   progressive cognitive and executive dysfunction, psychiatric
DE   disturbances, and neurologic symptoms, such as gait abnormalities,
DE   paresis, seizures, and rigidity. Symptom onset is usually in
DE   adulthood, although earlier onset has been reported. Some patients
DE   have an acute encephalopathic course with severe neurologic decline
DE   resulting in early death, whereas other patients have a more
DE   protracted and chronic disease course. Neuropathologic examination
DE   shows a leukoencephalopathy with axonal spheroids and myelination
DE   defects.
SY   HDLS-S.
SY   Leukoencephalopathy, hereditary diffuse, with spheroids, Swedish type.
SY   Swedish type hereditary diffuse leukoencephalopathy with spheroids.
DR   MIM; 619661; phenotype.
DR   MedGen; CN305734.
DR   MeSH; D056784.
KW   KW-0523:Neurodegeneration.
//
ID   Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome.
AC   DI-05836
AR   LEMSPAD.
DE   A disorder characterized by delayed motor development, speech delay
DE   with dysarthria, hypertonia, progressive spasticity, hyperreflexia,
DE   and bradykinesia. Cognition is normal. Patients manifest anxiety and
DE   attention deficit-hyperactivity disorder.
DR   MIM; 618878; phenotype.
DR   MedGen; CN280927.
DR   MeSH; D056784.
//
ID   Leukoencephalopathy, progressive, infantile-onset, with or without deafness.
AC   DI-06031
AR   LEPID.
DE   An autosomal recessive, complex neurodegenerative disorder apparent
DE   from infancy. LEPID is characterized by early-onset progressive
DE   leukoencephalopathy with brainstem and spinal cord calcifications,
DE   sensorineural deafness in most patients, global developmental delay
DE   with cognitive impairment and poor or absent speech, developmental
DE   regression, and neurologic deterioration. Additional more variable
DE   features may include poor overall growth with microcephaly, seizures,
DE   visual loss, microcytic anemia, and hepatic enlargement or abnormal
DE   liver enzymes. Premature death is common.
DR   MIM; 619147; phenotype.
DR   MedGen; CN295784.
DR   MeSH; D056784.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Leukoencephalopathy, progressive, with ovarian failure.
AC   DI-04191
AR   LKENP.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   childhood- to adulthood-onset of signs of neurologic deterioration
DE   consisting of ataxia, spasticity, and cognitive decline with features
DE   of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with
DE   striking involvement of deep white matter, and cerebellar atrophy. All
DE   female patients develop premature ovarian failure.
DR   MIM; 615889; phenotype.
DR   MedGen; CN197313.
DR   MeSH; D016649.
DR   MeSH; D056784.
KW   KW-0523:Neurodegeneration.
KW   KW-1066:Premature ovarian failure.
//
ID   Lhermitte-Duclos disease.
AC   DI-01903
AR   LDD.
DE   A rare disease characterized by the occurrence of a slowly enlarging
DE   mass within the cerebellar cortex corresponding histologically to a
DE   cerebellar hamartoma. It manifests, most commonly in the third and
DE   fourth decades of life, with increased intracranial pressure,
DE   headache, nausea, cerebellar dysfunction, occlusive hydrocephalus,
DE   ataxia, visual disturbances and other cranial nerve palsies. Various
DE   associated abnormalities may be present such as megalencephaly,
DE   microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia.
DE   LDD is part of the PTEN hamartoma tumor syndromes spectrum that also
DE   includes Cowden syndrome.
SY   Cerebellar granule cell hypertrophy and megalencephaly.
SY   Cerebelloparenchymal disorder VI.
SY   CPD6.
SY   Dysplastic gangliocytoma of the cerebellum.
SY   PHTS.
SY   PTEN hamartoma tumor syndrome.
DR   MIM; 158350; phenotype.
DR   MedGen; C0391826.
DR   MedGen; C1834711.
DR   MedGen; C1834712.
DR   MeSH; D006223.
//
ID   Li-Campeau syndrome.
AC   DI-06051
AR   LICAS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, intellectual disability, epilepsy, ptosis,
DE   hypothyroidism, and variable cardiac and genital anomalies. Additional
DE   features may include seizures, short stature, hypotonia, and brain
DE   imaging anomalies, such as cortical atrophy.
DR   MIM; 619189; phenotype.
DR   MedGen; CN295289.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Li-Fraumeni syndrome.
AC   DI-01904
AR   LFS.
DE   An autosomal dominant familial cancer syndrome that in its classic
DE   form is defined by the existence of a proband affected by a sarcoma
DE   before 45 years with a first degree relative affected by any tumor
DE   before 45 years and another first degree relative with any tumor
DE   before 45 years or a sarcoma at any age. Other clinical definitions
DE   for LFS have been proposed and called Li-Fraumeni like syndrome (LFL).
DE   In these families affected relatives develop a diverse set of
DE   malignancies at unusually early ages. Four types of cancers account
DE   for 80% of tumors occurring in TP53 germline mutation carriers: breast
DE   cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas)
DE   and adrenocortical carcinomas. Less frequent tumors include choroid
DE   plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma
DE   before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor,
DE   colorectal and gastric cancers.
SY   LFL.
SY   Sarcoma family syndrome of Li and Fraumeni.
SY   SBLA syndrome Li-Fraumeni-like syndrome.
DR   MIM; 151623; phenotype.
DR   MedGen; C0085390.
DR   MedGen; C1835398.
DR   MedGen; C2675080.
DR   MeSH; D016864.
//
ID   Li-Ghorbani-Weisz-Hubshman syndrome.
AC   DI-05894
AR   LIGOWS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, mild to moderate intellectual disability, speech and language
DE   impairment, and variable facial dysmorphism. Some patients have
DE   seizures and autistic features. Brain imaging abnormalities are
DE   observed in some patients and include decreased white matter volume,
DE   enlarged ventricles, thin corpus callosum, and gray matter nodular
DE   heterotopia.
DR   MIM; 618974; phenotype.
DR   MedGen; CN283319.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Liang-Wang syndrome.
AC   DI-05730
AR   LIWAS.
DE   An autosomal dominant syndrome characterized by a highly variable
DE   phenotype and severity. The broad spectrum of clinical features
DE   includes developmental delay, intellectual disability, ataxia, axial
DE   hypotonia, and poor or absent speech, visceral and cardiac
DE   malformations, connective tissue presentations with arterial
DE   involvement, bone dysplasia and characteristic craniofacial
DE   dysmorphism. About half of patients have cerebral and cerebellar
DE   atrophy, and thin corpus callosum.
DR   MIM; 618729; phenotype.
DR   MedGen; CN263138.
DR   MeSH; D000015.
//
ID   Liberfarb syndrome.
AC   DI-05845
AR   LIBF.
DE   An autosomal recessive multisystem disorder affecting the eye, ear,
DE   bone, and brain development. Clinical features include early-onset
DE   retinal degeneration, congenital cataracts, sensorineural hearing
DE   loss, microcephaly, intellectual disability, white matter changes,
DE   mild facial dysmorphism, and skeletal dysplasia with platyspondyly,
DE   scoliosis and short stature.
SY   SEMDLIBF.
SY   Spondyloepimetaphyseal dysplasia, Liberfarb type.
DR   MIM; 618889; phenotype.
DR   MedGen; CN281158.
DR   MeSH; D000015.
DR   MeSH; D010009.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Lichtenstein-Knorr syndrome.
AC   DI-04382
AR   LIKNS.
DE   An autosomal recessive neurologic disorder characterized by
DE   progressive cerebellar ataxia and severe progressive sensorineural
DE   hearing loss.
SY   SCAR19.
SY   Spinocerebellar ataxia, autosomal recessive, 19.
DR   MIM; 616291; phenotype.
DR   MedGen; CN229337.
DR   MeSH; D002524.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
//
ID   Liddle syndrome 1.
AC   DI-01905
AR   LIDLS1.
DE   A form of Liddle syndrome, an autosomal dominant disorder
DE   characterized by early onset of hypertension, hypokalemic alkalosis,
DE   and suppression of plasma renin activity and aldosterone secretion.
SY   Liddle syndrome.
SY   LIDLS.
SY   Pseudoaldosteronism.
SY   Pseudohyperaldosteronism.
DR   MIM; 177200; phenotype.
DR   MedGen; C0221043.
DR   MeSH; D056929.
//
ID   Liddle syndrome 2.
AC   DI-05331
AR   LIDLS2.
DE   A form of Liddle syndrome, an autosomal dominant disorder
DE   characterized by early onset of hypertension, hypokalemic alkalosis,
DE   and suppression of plasma renin activity and aldosterone secretion.
DR   MIM; 618114; phenotype.
DR   MedGen; CN253832.
DR   MeSH; D056929.
//
ID   Liddle syndrome 3.
AC   DI-05332
AR   LIDLS3.
DE   A form of Liddle syndrome, an autosomal dominant disorder
DE   characterized by early onset of hypertension, hypokalemic alkalosis,
DE   and suppression of plasma renin activity and aldosterone secretion.
DR   MIM; 618126; phenotype.
DR   MedGen; CN253837.
DR   MeSH; D056929.
//
ID   Liebenberg syndrome.
AC   DI-03623
AR   LBNBG.
DE   An upper limb-malformation syndrome characterized by the combination
DE   of dysplastic elbow joints and the fusion of wrist bones with
DE   consequent radial deviation.
SY   Brachydactyly with joint dysplasia.
SY   Carpal synostosis with dysplastic elbow joints and brachydactyly.
DR   MIM; 186550; phenotype.
DR   MedGen; C1861313.
DR   MeSH; D006228.
DR   MeSH; D013580.
DR   MeSH; D059327.
//
ID   LIG4 syndrome.
AC   DI-01906
AR   LIG4S.
DE   Characterized by immunodeficiency and developmental and growth delay.
DE   Patients display unusual facial features, microcephaly, growth and/or
DE   developmental delay, pancytopenia, and various skin abnormalities.
DR   MIM; 606593; phenotype.
DR   MedGen; C1847827.
//
ID   Limb pelvis hypoplasia aplasia syndrome.
AC   DI-01908
AR   LPHAS.
DE   A syndrome of severe deficiency of the extremities due to hypo- or
DE   aplasia of one or more long bones of one or more limbs. Pelvic
DE   manifestations include hip dislocation, hypoplastic iliac bone and
DE   aplastic pubic bones. Thoracic deformity, unusual facies and
DE   genitourinary anomalies can be present.
SY   AARRS.
SY   Absence of ulna and fibula with severe limb deficiency.
SY   Al-Awadi/Raas-Rothschild syndrome.
SY   Limb/pelvis/uterus-hypoplasia/aplasia syndrome.
SY   Limb/pelvis-hypoplasia/aplasia syndrome.
SY   Schinzel phocomelia syndrome.
DR   MIM; 276820; phenotype.
DR   MedGen; C1848651.
DR   MeSH; D004480.
//
ID   Limb-mammary syndrome.
AC   DI-01907
AR   LMS.
DE   Characterized by ectrodactyly, cleft palate and mammary-gland
DE   abnormalities.
DR   MIM; 603543; phenotype.
DR   MedGen; C1863753.
//
ID   Linear skin defects with multiple congenital anomalies 1.
AC   DI-00765
AR   LSDMCA1.
DE   A disorder characterized by dermal, ocular, neurological and cardiac
DE   abnormalities. LSDMCA1 main features are unilateral or bilateral
DE   microphthalmia, linear skin defects in affected females, and in utero
DE   lethality for males. Skin defects are limited to the face and neck,
DE   consisting of areas of aplastic skin that heal with age to form
DE   hyperpigmented areas. Additional features in female patients include
DE   agenesis of the corpus callosum, sclerocornea, chorioretinal
DE   abnormalities, infantile seizures, congenital heart defect,
DE   intellectual disability, and diaphragmatic hernia. Microphthalmia is a
DE   disorder of eye formation, ranging from small size of a single eye to
DE   complete bilateral absence of ocular tissues (anophthalmia). In many
DE   cases, microphthalmia/anophthalmia occurs in association with
DE   syndromes that include non-ocular abnormalities.
SY   MCOPS7.
SY   Microphthalmia, dermal aplasia and sclerocornea.
SY   Microphthalmia, syndromic, 7.
SY   Microphthalmia with linear skin defects.
SY   MIDAS syndrome.
SY   MLS.
DR   MIM; 309801; phenotype.
DR   MedGen; C0796070.
DR   MeSH; D008850.
DR   MeSH; D012868.
KW   KW-1013:Microphthalmia.
//
ID   Linear skin defects with multiple congenital anomalies 2.
AC   DI-03628
AR   LSDMCA2.
DE   A distinct form of aplasia cutis congenita presenting as multiple
DE   linear skin defects on the face and neck associated with poor growth,
DE   microcephaly, and facial dysmorphism. Additional features include
DE   intellectual disability, nail dystrophy, short stature and cardiac
DE   abnormalities.
SY   Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies.
SY   APLCC.
DR   MIM; 300887; phenotype.
DR   MedGen; C3550921.
DR   MedGen; CN163066.
DR   MeSH; D000015.
//
ID   Linear skin defects with multiple congenital anomalies 3.
AC   DI-04409
AR   LSDMCA3.
DE   A disorder characterized by dermal, ocular, neurological and cardiac
DE   abnormalities. LSDMCA3 clinical features include linear skin defects
DE   on face and neck at birth, lacrimal duct atresia, myopia, nystagmus,
DE   strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum
DE   agenesis, and dilation of lateral ventricles.
SY   Linear skin defects with cardiomyopathy and other congenital anomalies.
DR   MIM; 300952; phenotype.
DR   MedGen; CN230316.
DR   MeSH; D005124.
DR   MeSH; D012868.
KW   KW-0122:Cardiomyopathy.
//
ID   Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.
AC   DI-04783
AR   LSMFLAD.
DE   An autosomal recessive, inborn error of metabolism characterized by
DE   variable mitochondrial dysfunction. Clinical features range from
DE   severe cardiac and respiratory insufficiency with onset in infancy and
DE   resulting in early death, to mild muscle weakness with onset in
DE   adulthood. Some patients show significant improvement with riboflavin
DE   treatment. Analysis of skeletal muscle show multiple mitochondrial
DE   respiratory chain deficiency and a lipid storage myopathy in most
DE   patients.
SY   Lipid storage myopathy due to FLAD1 deficiency.
DR   MIM; 255100; phenotype.
DR   MedGen; CN032199.
DR   MeSH; D009136.
//
ID   Lipodystrophy, familial partial, 2.
AC   DI-01595
AR   FPLD2.
DE   A disorder characterized by the loss of subcutaneous adipose tissue in
DE   the lower parts of the body (limbs, buttocks, trunk). It is
DE   accompanied by an accumulation of adipose tissue in the face and neck
DE   causing a double chin, fat neck, or cushingoid appearance. Adipose
DE   tissue may also accumulate in the axillae, back, labia majora, and
DE   intraabdominal region. Affected patients are insulin-resistant and may
DE   develop glucose intolerance and diabetes mellitus after age 20 years,
DE   hypertriglyceridemia, and low levels of high density lipoprotein
DE   cholesterol.
SY   Familial partial lipodystrophy Dunnigan type.
SY   FPL2.
SY   Generalized lipoatrophy associated with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules.
SY   Lipoatrophic diabetes.
SY   Lipodystrophy familial of limbs and lower trunk.
SY   Lipodystrophy reverse partial.
DR   MIM; 151660; phenotype.
DR   MedGen; C1720860.
DR   MeSH; D052496.
//
ID   Lipodystrophy, familial partial, 3.
AC   DI-01596
AR   FPLD3.
DE   A form of lipodystrophy characterized by marked loss of subcutaneous
DE   fat from the extremities. Facial adipose tissue may be increased,
DE   decreased or normal. Affected individuals show an increased
DE   preponderance of insulin resistance, diabetes mellitus and
DE   dyslipidemia.
SY   Familial partial lipodystrophy associated with PPARG mutations.
DR   MIM; 604367; phenotype.
DR   MedGen; C1720861.
DR   MeSH; D052496.
//
ID   Lipodystrophy, familial partial, 4.
AC   DI-03072
AR   FPLD4.
DE   A form of lipodystrophy characterized by loss of subcutaneous adipose
DE   tissue primarily affecting the lower limbs, insulin-resistant diabetes
DE   mellitus, hypertriglyceridemia, and hypertension.
SY   Familial partial lipodystrophy associated with PLIN1 mutations.
DR   MIM; 613877; phenotype.
DR   MedGen; C3151268.
DR   MeSH; D052496.
//
ID   Lipodystrophy, familial partial, 5.
AC   DI-03748
AR   FPLD5.
DE   A form of lipodystrophy characterized by loss of subcutaneous adipose
DE   tissue affecting limb, femorogluteal and subcutaneous abdominal fat,
DE   preservation of visceral, neck and axilliary fat, hepatomegaly,
DE   hepatic steatosis and insulin-resistant diabetes.
SY   Familial partial lipodystrophy associated with CIDEC mutations.
DR   MIM; 615238; phenotype.
DR   MedGen; C3808940.
DR   MedGen; CN169867.
DR   MeSH; D052496.
//
ID   Lipodystrophy, familial partial, 6.
AC   DI-04219
AR   FPLD6.
DE   A form of lipodystrophy characterized by abnormal subcutaneous fat
DE   distribution. Affected individuals have increased visceral fat,
DE   impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin
DE   resistance, and diabetes. Some patients manifest muscular dystrophy.
DR   MIM; 615980; phenotype.
DR   MedGen; CN219208.
DR   MeSH; D024821.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
//
ID   Lipodystrophy, familial partial, 7.
AC   DI-04108
AR   FPLD7.
DE   A form of partial lipodystrophy, a disorder characterized by abnormal
DE   subcutaneous fat distribution. Affected individuals manifest a gradual
DE   loss of subcutaneous adipose tissue in various parts of the body,
DE   accompanied by an accumulation of adipose tissue in the face and neck
DE   in some cases causing a double chin, fat neck, or cushingoid
DE   appearance. FPLD7 is an autosomal dominant form with a variable
DE   phenotype. Some patients manifest congenital cataracts and
DE   neurodegeneration leading to cerebellar and spinal cord dysfunction.
SY   LCCNS.
SY   Lipodystrophy, partial, with congenital cataracts and neurodegeneration.
SY   Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome.
DR   MIM; 606721; phenotype.
DR   MedGen; C1847582.
DR   MeSH; D052496.
//
ID   Lipoid proteinosis.
AC   DI-01909
AR   LiP.
DE   Rare autosomal recessive disorder characterized by generalized
DE   thickening of skin, mucosae and certain viscera. Classical features
DE   include beaded eyelid papules and laryngeal infiltration leading to
DE   hoarseness. Histologically, there is widespread deposition of hyaline
DE   material and disruption/reduplication of basement membrane.
SY   Hyalinosis cutis et mucosae.
SY   Lipoid proteinosis of Urbach and Wiethe.
DR   MIM; 247100; phenotype.
DR   MedGen; C0023795.
//
ID   Lipomatosis, multiple symmetric, with or without peripheral neuropathy.
AC   DI-06711
AR   MSL.
DE   An autosomal recessive disorder characterized by the growth of
DE   unencapsulated, lipomatous masses affecting the upper body, especially
DE   the cervical and thoracic regions. Lipomatosis can be disfiguring, and
DE   lipoma growth around the neck may cause difficulty swallowing or
DE   breathing. The age at onset ranges from childhood to young adulthood.
DE   Some patients develop distal muscle weakness and atrophy due to axonal
DE   peripheral neuropathy.
SY   Launois-Bensaude lipomatosis.
SY   Lipodystrophy, cephalothoracic.
SY   Lipomatosis, familial benign cervical.
SY   Madelung Disease.
DR   MIM; 151800; phenotype.
DR   MedGen; C0023804.
DR   MeSH; D008069.
//
ID   Lipoprotein glomerulopathy.
AC   DI-01910
AR   LPG.
DE   Uncommon kidney disease characterized by proteinuria, progressive
DE   kidney failure, and distinctive lipoprotein thrombi in glomerular
DE   capillaries.
DR   MIM; 611771; phenotype.
DR   MedGen; C2673196.
//
ID   Lipoyltransferase 1 deficiency.
AC   DI-04388
AR   LIPT1D.
DE   An autosomal recessive disorder due to a defect in lipoic acid
DE   metabolism, resulting in severe lactic acidosis and metabolic
DE   decompensation. Variable clinical manifestations include delayed
DE   psychomotor development, severe hypotonia, dystonia, loss of head
DE   control, coma, bradycardia, and pulmonary hypertension.
DR   MIM; 616299; phenotype.
DR   MedGen; CN230008.
DR   MeSH; D008661.
//
ID   Lissencephaly 1.
AC   DI-00670
AR   LIS1.
DE   A classical lissencephaly. It is characterized by agyria or pachygyria
DE   and disorganization of the clear neuronal lamination of normal six-
DE   layered cortex. The cortex is abnormally thick and poorly organized
DE   with 4 primitive layers. Associated with enlarged and dysmorphic
DE   ventricles and often hypoplasia of the corpus callosum.
SY   Classic lissencephaly.
SY   Lissencephaly-1.
DR   MIM; 607432; phenotype.
DR   MedGen; C0431375.
DR   MedGen; C1843916.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 10.
AC   DI-05832
AR   LIS10.
DE   A form of lissencephaly, a disorder of cortical development
DE   characterized by agyria or pachygyria and disorganization of the clear
DE   neuronal lamination of normal six-layered cortex. LIS10 is an
DE   autosomal dominant form clinically characterized by variably delayed
DE   development, mildly to moderately impaired intellectual development,
DE   language delay, and seizures. Some patients have normal early
DE   development and borderline to mild cognitive impairment.
DR   MIM; 618873; phenotype.
DR   MedGen; CN280891.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 2.
AC   DI-00671
AR   LIS2.
DE   A classic type lissencephaly associated with ataxia, intellectual
DE   disability, seizures and abnormalities of the cerebellum, hippocampus
DE   and brainstem.
SY   LCH.
SY   Lissencephaly syndrome Norman-Roberts type.
SY   Lissencephaly with cerebellar hypoplasia.
SY   Norman-Roberts syndrome.
DR   MIM; 257320; phenotype.
DR   MedGen; C0796089.
DR   MedGen; CN187053.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 3.
AC   DI-00672
AR   LIS3.
DE   A classic type lissencephaly associated with psychomotor retardation
DE   and seizures. Features include agyria or pachygyria or laminar
DE   heterotopia, severe intellectual disability, motor delay, variable
DE   presence of seizures, and abnormalities of corpus callosum,
DE   hippocampus, cerebellar vermis and brainstem.
DR   MIM; 611603; phenotype.
DR   MedGen; C1969029.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 4.
AC   DI-03160
AR   LIS4.
DE   A neurodevelopmental disorder characterized by lissencephaly, severe
DE   brain atrophy, extreme microcephaly, and profound intellectual
DE   disability.
SY   Lissencephaly 4 with microcephaly.
SY   Microlissencephaly.
DR   MIM; 614019; phenotype.
DR   MedGen; C3151461.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 5.
AC   DI-03744
AR   LIS5.
DE   An autosomal recessive brain malformation characterized by cobblestone
DE   changes in the cortex, more severe in the posterior region, and
DE   subcortical band heterotopia. Affected individuals have hydrocephalus,
DE   seizures, and severely delayed psychomotor development.
DR   MIM; 615191; phenotype.
DR   MedGen; C3554657.
DR   MedGen; CN169267.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 6, with microcephaly.
AC   DI-04334
AR   LIS6.
DE   A form of lissencephaly, a disorder of cortical development
DE   characterized by agyria or pachygyria and disorganization of the clear
DE   neuronal lamination of normal six-layered cortex. LIS6 features
DE   include hypoplasia of the corpus callosum, severe microcephaly and
DE   developmental delay.
DR   MIM; 616212; phenotype.
DR   MedGen; CN225703.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 7, with cerebellar hypoplasia.
AC   DI-04422
AR   LIS7.
DE   A form of lissencephaly, a disorder of cortical development
DE   characterized by agyria or pachygyria and disorganization of the clear
DE   neuronal lamination of normal six-layered cortex. LIS7 patients
DE   manifest lack of psychomotor development, facial dysmorphism,
DE   arthrogryposis, and early-onset intractable seizures resulting in
DE   death in infancy.
DR   MIM; 616342; phenotype.
DR   MedGen; CN230161.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 8.
AC   DI-04891
AR   LIS8.
DE   A form of lissencephaly, a disorder of cortical development
DE   characterized by agyria or pachygyria and disorganization of the clear
DE   neuronal lamination of normal six-layered cortex. LIS8 patients
DE   manifest delayed psychomotor development, intellectual disability with
DE   poor or absent speech, early-onset refractory seizures, hypotonia,
DE   cortical gyral abnormalities, and hypoplasia of the corpus callosum,
DE   brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
DR   MIM; 617255; phenotype.
DR   MedGen; CN239574.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly 9 with complex brainstem malformation.
AC   DI-05481
AR   LIS9.
DE   A form of lissencephaly, a disorder of cortical development
DE   characterized by agyria or pachygyria and disorganization of the clear
DE   neuronal lamination of normal six-layered cortex. LIS9 is an autosomal
DE   dominant form clinically characterized by global developmental delay
DE   apparent since infancy, impaired intellectual development with poor or
DE   absent speech, and sometimes abnormal or involuntary movements. Brain
DE   imaging shows malformation of the brainstem, in addition to pachygyria
DE   and lissencephaly.
DR   MIM; 618325; phenotype.
DR   MedGen; CN258209.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly, X-linked 1.
AC   DI-00673
AR   LISX1.
DE   A classic lissencephaly characterized by intellectual disability and
DE   seizures that are more severe in male patients. Affected boys show an
DE   abnormally thick cortex with absent or severely reduced gyri. Clinical
DE   manifestations include feeding problems, abnormal muscular tone,
DE   seizures and severe to profound psychomotor retardation. Female
DE   patients display a less severe phenotype referred to as
DE   'doublecortex'.
SY   XLIS.
DR   MIM; 300067; phenotype.
DR   MedGen; C1848199.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Lissencephaly, X-linked 2.
AC   DI-00674
AR   LISX2.
DE   A classic type lissencephaly associated with abnormal genitalia.
DE   Patients have severe congenital or postnatal microcephaly,
DE   lissencephaly, agenesis of the corpus callosum, neonatal-onset
DE   intractable epilepsy, poor temperature regulation, chronic diarrhea,
DE   and ambiguous or underdeveloped genitalia.
SY   Lissencephaly X-linked with ambiguous genitalia.
SY   XLAG.
SY   XLISG.
DR   MIM; 300215; phenotype.
DR   MedGen; C1846171.
DR   MedGen; C1846172.
DR   MeSH; D054082.
KW   KW-0451:Lissencephaly.
//
ID   Liver disease, severe congenital.
AC   DI-06479
AR   SCOLIV.
DE   An autosomal recessive disease characterized by severe neonatal liver
DE   cirrhosis and progressive hepatic dysfunction. Affected individuals
DE   have feeding difficulties, poor overall growth, and failure to thrive
DE   with signs of malnutrition. Additional features include jaundice,
DE   abdominal distension, hepatomegaly or hepatosplenomegaly, and ascites
DE   in most patients.
DR   MIM; 619991; phenotype.
DR   MedGen; CN315947.
DR   MeSH; D008107.
//
ID   Liver failure, infantile, transient.
AC   DI-02634
AR   LFIT.
DE   A transient disorder of hepatic function characterized by elevated
DE   liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia,
DE   increased serum lactate. Patients who survive the initial acute
DE   episode can recover, show normal development and have no recurrence.
SY   Acute infantile liver failure.
SY   Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect.
DR   MIM; 613070; phenotype.
DR   MedGen; C2751567.
DR   MedGen; C3278664.
DR   MeSH; D017093.
//
ID   Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia.
AC   DI-04883
AR   LDMLS1.
DE   An autosomal recessive multisystem disorder characterized by delayed
DE   psychomotor development, severe intellectual disability with poor or
DE   absent speech, and bradycardia and/or cardiac sinus arrhythmias.
DE   Additional features include visual abnormalities, seizures, hypotonia,
DE   and gastric reflux.
SY   IDDCA.
SY   Intellectual developmental disorder with cardiac arrhythmia.
DR   MIM; 617173; phenotype.
DR   MedGen; CN239052.
DR   MeSH; D000015.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia.
AC   DI-04882
AR   LDMLS2.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   speech impairment and variable expressivity of attention deficit
DE   hyperactivity disorder. Some patients manifest developmental and motor
DE   delay, hypotonia, and sinus-node dysfunction.
SY   LADCI.
SY   Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia.
SY   Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.
DR   MIM; 617182; phenotype.
DR   MedGen; CN239053.
DR   MeSH; D065886.
//
ID   Loeys-Dietz syndrome 1.
AC   DI-00675
AR   LDS1.
DE   An aortic aneurysm syndrome with widespread systemic involvement,
DE   characterized by arterial tortuosity and aneurysms, hypertelorism, and
DE   bifid uvula or cleft palate. Physical findings include prominent joint
DE   laxity, easy bruising, wide and atrophic scars, velvety and
DE   translucent skin with easily visible veins, spontaneous rupture of the
DE   spleen or bowel, and catastrophic complications of pregnancy,
DE   including rupture of the gravid uterus and the arteries, either during
DE   pregnancy or in the immediate postpartum period. Some patients have
DE   craniosynostosis, exotropy, micrognathia and retrognathia, structural
DE   brain abnormalities, and intellectual deficit.
SY   AAT5.
SY   Familial thoracic aortic aneurysm 5.
SY   Furlong syndrome.
SY   LDAS.
SY   Loeys-Dietz aortic aneurysm syndrome.
SY   Marfanoid disorder-craniosynostosis syndrome.
DR   MIM; 609192; phenotype.
DR   MedGen; C1836635.
DR   MedGen; C2697933.
DR   MedGen; C2931764.
DR   MeSH; D055947.
KW   KW-0989:Craniosynostosis.
KW   KW-0993:Aortic aneurysm.
//
ID   Loeys-Dietz syndrome 2.
AC   DI-00677
AR   LDS2.
DE   An aortic aneurysm syndrome with widespread systemic involvement,
DE   characterized by arterial tortuosity and aneurysms, hypertelorism, and
DE   bifid uvula or cleft palate. Physical findings include prominent joint
DE   laxity, easy bruising, wide and atrophic scars, velvety and
DE   translucent skin with easily visible veins, spontaneous rupture of the
DE   spleen or bowel, and catastrophic complications of pregnancy,
DE   including rupture of the gravid uterus and the arteries, either during
DE   pregnancy or in the immediate postpartum period. Some patients have
DE   craniosynostosis, exotropy, micrognathia and retrognathia, structural
DE   brain abnormalities, and intellectual deficit.
SY   AAT3.
SY   Familial aortic aneurysm thoracic type 3.
SY   Marfan syndrome type 2.
SY   MFS2.
SY   TAAD2.
SY   Thoracic aortic aneurysms and dissection 2.
DR   MIM; 610168; phenotype.
DR   MedGen; C2674876.
DR   MeSH; D055947.
KW   KW-0989:Craniosynostosis.
KW   KW-0993:Aortic aneurysm.
//
ID   Loeys-Dietz syndrome 3.
AC   DI-03064
AR   LDS3.
DE   An aortic aneurysm syndrome with widespread systemic involvement. The
DE   disorder is characterized by the triad of arterial tortuosity and
DE   aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients
DE   with LDS3 also manifest early-onset osteoarthritis. They lack
DE   craniosynostosis and intellectual disability.
SY   Aneurysms-osteoarthritis syndrome.
SY   AOS.
SY   LDS1C.
SY   Loeys-Dietz syndrome 1C.
SY   Loeys-Dietz syndrome with osteoarthritis.
DR   MIM; 613795; phenotype.
DR   MedGen; C3151087.
DR   MeSH; D055947.
KW   KW-0993:Aortic aneurysm.
//
ID   Loeys-Dietz syndrome 4.
AC   DI-03523
AR   LDS4.
DE   An aortic aneurysm syndrome with widespread systemic involvement. LDS4
DE   is characterized by arterial tortuosity, aortic dissection,
DE   intracranial aneurysm and subarachnoid hemorrhage, hypertelorism,
DE   bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly,
DE   scoliosis, foot deformities, dural ectasia, joint hyperflexibility,
DE   and thin skin with easy bruising and striae.
SY   Aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations.
DR   MIM; 614816; phenotype.
DR   MedGen; C3553762.
DR   MedGen; CN143719.
DR   MeSH; D055947.
KW   KW-0993:Aortic aneurysm.
//
ID   Loeys-Dietz syndrome 5.
AC   DI-03991
AR   LDS5.
DE   A form of Loeys-Dietz syndrome, a syndrome with widespread systemic
DE   involvement characterized by arterial tortuosity and aneurysms,
DE   hypertelorism, and bifid uvula or cleft palate. LDS5 additional
DE   variable features include mitral valve disease, skeletal overgrowth,
DE   cervical spine instability, and clubfoot deformity. LDS5 patients do
DE   not manifest remarkable aortic or arterial tortuosity, and there is no
DE   strong evidence for early aortic dissection.
SY   Rienhoff syndrome.
SY   RNHF.
DR   MIM; 615582; phenotype.
DR   MedGen; C3810012.
DR   MeSH; D055947.
//
ID   Loeys-Dietz syndrome 6.
AC   DI-06280
AR   LDS6.
DE   A form of Loeys-Dietz syndrome, a syndrome with widespread systemic
DE   involvement characterized by arterial tortuosity and aneurysms,
DE   hypertelorism, and bifid uvula or cleft palate. Most LDS6 patients
DE   have thoracic aortic aneurysm involving the ascending aorta and/or
DE   aortic root, but cerebral and iliac arteries can be affected, and
DE   abdominal aortic aneurysm has been observed. Arterial tortuosity
DE   involving cerebral vessels, the aorta, and/or iliac arteries has also
DE   been reported. LDS6 inheritance is autosomal dominant.
DR   MIM; 619656; phenotype.
DR   MedGen; CN305191.
DR   MeSH; D055947.
//
ID   Long QT syndrome 1.
AC   DI-00679
AR   LQT1.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
SY   Romano-Ward syndrome.
SY   RWS.
SY   Ward-Romano syndrome.
DR   MIM; 192500; phenotype.
DR   MedGen; C0035828.
DR   MedGen; C1843738.
DR   MedGen; CN177655.
DR   MeSH; D029597.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 10.
AC   DI-00687
AR   LQT10.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 611819; phenotype.
DR   MedGen; C2678484.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 11.
AC   DI-00688
AR   LQT11.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 611820; phenotype.
DR   MedGen; C2678483.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 12.
AC   DI-02487
AR   LQT12.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 612955; phenotype.
DR   MedGen; C2751830.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 13.
AC   DI-02771
AR   LQT13.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 613485; phenotype.
DR   MedGen; C3150733.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 14.
AC   DI-04329
AR   LQT14.
DE   A form of long QT syndrome, a heart disorder characterized by a
DE   prolonged QT interval on the ECG and polymorphic ventricular
DE   arrhythmias. They cause syncope and sudden death in response to
DE   exercise or emotional stress, and can present with a sentinel event of
DE   sudden cardiac death in infancy.
DR   MIM; 616247; phenotype.
DR   MedGen; CN228133.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 15.
AC   DI-04328
AR   LQT15.
DE   A form of long QT syndrome, a heart disorder characterized by a
DE   prolonged QT interval on the ECG and polymorphic ventricular
DE   arrhythmias. They cause syncope and sudden death in response to
DE   exercise or emotional stress, and can present with a sentinel event of
DE   sudden cardiac death in infancy.
DR   MIM; 616249; phenotype.
DR   MedGen; CN228134.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 16.
AC   DI-05766
AR   LQT16.
DE   An autosomal dominant form of long QT syndrome, a heart disorder
DE   characterized by a prolonged QT interval on the ECG and polymorphic
DE   ventricular arrhythmias. They cause syncope and sudden death in
DE   response to exercise or emotional stress, and can present with a
DE   sentinel event of sudden cardiac death in infancy.
DR   MIM; 618782; phenotype.
DR   MedGen; CN263287.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 2.
AC   DI-00680
AR   LQT2.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy. Deafness is
DE   often associated with long QT syndrome type 2.
SY   Long QT syndrome 1/2.
SY   LONG QT syndrome 2/3.
SY   LONG QT syndrome 2/5.
SY   LONG QT syndrome 2/9.
SY   LQT1/2.
SY   LQT2/3.
SY   LQT2/5.
SY   LQT2/9.
SY   Susceptibility to acquired Long QT syndrome 2.
DR   MIM; 613688; phenotype.
DR   MedGen; C1859063.
DR   MedGen; C3150943.
DR   MedGen; C3150944.
DR   MedGen; C3276240.
DR   MedGen; C3279093.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 3.
AC   DI-00681
AR   LQT3.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 603830; phenotype.
DR   MedGen; C1838527.
DR   MedGen; C1859062.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 4.
AC   DI-00682
AR   LQT4.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy. Long QT
DE   syndrome type 4 shows many atypical features compared to classical
DE   long QT syndromes, including pronounced sinus bradycardia, polyphasic
DE   T waves and atrial fibrillation. Cardiac repolarization defects may be
DE   not as severe as in classical LQT syndromes and prolonged QT interval
DE   on EKG is not a consistent feature.
SY   Sick sinus syndrome with bradycardia.
DR   MIM; 600919; phenotype.
DR   MedGen; C1833154.
DR   MedGen; C1970119.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 5.
AC   DI-00683
AR   LQT5.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
SY   Long QT syndrome 2/5.
SY   LQT2/5.
SY   Susceptibility to acquired Long QT syndrome 5.
DR   MIM; 613695; phenotype.
DR   MedGen; C1867904.
DR   MedGen; C3150956.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 6.
AC   DI-00684
AR   LQT6.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
SY   Long QT syndrome 3/6.
SY   LQT3/6.
SY   Susceptibility to acquired Long QT syndrome 6.
DR   MIM; 613693; phenotype.
DR   MedGen; C1863519.
DR   MedGen; C3150953.
DR   MedGen; C3150954.
DR   MedGen; C3276241.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 7.
AC   DI-00685
AR   LQT7.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy. Long QT
DE   syndrome type 7 manifests itself as a clinical triad consisting of
DE   potassium-sensitive periodic paralysis, ventricular ectopy and
DE   dysmorphic features.
SY   Andersen cardiodysrhythmic periodic paralysis.
SY   Andersen syndrome.
SY   Andersen-Tawil syndrome.
SY   ATS.
SY   Periodic paralysis, potassium-sensitive cardiodysrhythmic type.
DR   MIM; 170390; phenotype.
DR   MedGen; C1563715.
DR   MeSH; D050030.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 8.
AC   DI-05582
AR   LQT8.
DE   A form of long QT syndrome, a heart disorder characterized by a
DE   prolonged QT interval on the ECG and polymorphic ventricular
DE   arrhythmias. They cause syncope and sudden death in response to
DE   exercise or emotional stress, and can present with a sentinel event of
DE   sudden cardiac death in infancy. LQT8 transmission pattern is
DE   consistent with autosomal dominant inheritance with incomplete
DE   penetrance.
DR   MIM; 618447; phenotype.
DR   MedGen; CN260585.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long QT syndrome 9.
AC   DI-00686
AR   LQT9.
DE   A heart disorder characterized by a prolonged QT interval on the ECG
DE   and polymorphic ventricular arrhythmias. They cause syncope and sudden
DE   death in response to exercise or emotional stress, and can present
DE   with a sentinel event of sudden cardiac death in infancy.
DR   MIM; 611818; phenotype.
DR   MedGen; C2678485.
DR   MeSH; D008133.
KW   KW-0454:Long QT syndrome.
//
ID   Long-chain 3-hydroxyl-CoA dehydrogenase deficiency.
AC   DI-01914
AR   LCHAD deficiency.
DE   The clinical features are very similar to TFP deficiency.
DE   Biochemically, LCHAD deficiency is characterized by reduced long-chain
DE   3-hydroxyl-CoA dehydrogenase activity, while the other enzyme
DE   activities of the TFP complex are normal or only slightly reduced.
DR   MIM; 609016; phenotype.
DR   MedGen; CN074230.
//
ID   Loose anagen hair syndrome.
AC   DI-01915
AR   LAHS.
DE   In LAHS, anagen hairs are easily pulled from the scalp. The hair is
DE   relatively sparse and does not grow long. Hair of fair color and hair
DE   shafts of reduced caliber, and an early age of onset are features.
DE   Usually the hairs are not fragile and there are no areas of breakage.
DR   MIM; 600628; phenotype.
DR   MedGen; C0406468.
//
ID   Lopes-Maciel-Rodan syndrome.
AC   DI-04988
AR   LOMARS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   developmental regression in infancy, delayed psychomotor development,
DE   severe intellectual disability, and cerebral and cerebellar atrophy.
DE   Additional features include swallowing problems, dystonia,
DE   bradykinesia, and continuous manual stereotypies without chorea. Some
DE   patients manifest seizures.
DR   MIM; 617435; phenotype.
DR   MedGen; C4479491.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis.
AC   DI-00689
AR   LMWPHN.
DE   An X-linked renal disease belonging to the 'Dent disease complex', a
DE   group of disorders characterized by proximal renal tubular defect,
DE   hypercalciuria, nephrocalcinosis, and renal insufficiency. The
DE   spectrum of phenotypic features is remarkably similar in the various
DE   disorders, except for differences in the severity of bone deformities
DE   and renal impairment. LMWPHN is a slowly progressive disorder.
DE   Patients tend to have hypercalciuric nephrocalcinosis without rickets
DE   or renal failure.
DR   MIM; 308990; phenotype.
DR   MedGen; C1839874.
DR   MeSH; D015499.
//
ID   Lowe oculocerebrorenal syndrome.
AC   DI-01916
AR   OCRL.
DE   X-linked multisystem disorder affecting eyes, nervous system, and
DE   kidney. It is characterized by hydrophthalmia, cataract, intellectual
DE   disability, vitamin D-resistant rickets, aminoaciduria, and reduced
DE   ammonia production by the kidney. Ocular abnormalities include
DE   cataract, glaucoma, microphthalmos, and decreased visual acuity.
DE   Developmental delay, hypotonia, behavior abnormalities, and areflexia
DE   are also present. Renal tubular involvement is characterized by
DE   impaired reabsorption of bicarbonate, amino acids, and phosphate.
DE   Musculoskeletal abnormalities such as joint hypermobility, dislocated
DE   hips, and fractures may develop as consequences of renal tubular
DE   acidosis and hypophosphatemia. Cataract is the only significant
DE   manifestation in carriers and is detected by slit-lamp examination.
SY   Lowe syndrome.
DR   MIM; 309000; phenotype.
DR   MedGen; C0028860.
DR   MedGen; C2713392.
KW   KW-1186:Ciliopathy.
//
ID   Lower urinary tract obstruction, congenital.
AC   DI-05673
AR   LUTO.
DE   A disorder characterized by urinary bladder outflow obstruction, which
DE   can represent an anatomical blockage or a functional obstruction. The
DE   most common anatomical causes are posterior urethral valves at the
DE   level of the prostatic urethra, a lesion unique to males. Less common
DE   are anterior urethral valves, also called urethral atresia, that can
DE   occur in either sex. LUTO is an autosomal dominant disease with
DE   variable expression.
DR   MIM; 618612; phenotype.
DR   MedGen; CN262378.
DR   MeSH; D014570.
//
ID   Lung cancer.
AC   DI-02205
AR   LNCR.
DE   A common malignancy affecting tissues of the lung. The most common
DE   form of lung cancer is non-small cell lung cancer (NSCLC) that can be
DE   divided into 3 major histologic subtypes: squamous cell carcinoma,
DE   adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed
DE   at an advanced stage and has a poor prognosis.
SY   Adenocarcinoma of lung.
SY   Alveolar cell carcinoma.
SY   Nonsmall cell lung cancer.
DR   MIM; 211980; phenotype.
DR   MedGen; C0007120.
DR   MedGen; C0007131.
DR   MedGen; C0152013.
DR   MedGen; C0684249.
DR   MedGen; C1968897.
DR   MeSH; D008175.
//
ID   Lung disease, immunodeficiency, and chromosome breakage syndrome.
AC   DI-04908
AR   LICS.
DE   An autosomal recessive chromosome breakage syndrome associated with
DE   severe, fatal lung disease in early childhood, following viral
DE   pneumonia. LICS is characterized by combined T and B-cell
DE   immunodeficiency. Some patients may have mild dysmorphic features.
DR   MIM; 617241; phenotype.
DR   MedGen; CN239560.
DR   MeSH; D007153.
DR   MeSH; D008171.
//
ID   Luo-Schoch-Yamamoto syndrome.
AC   DI-06178
AR   LUSYAM.
DE   An autosomal dominant disorder characterized by intrauterine growth
DE   retardation, severe intellectual disability, behavioral problems,
DE   early-onset seizures, feeding difficulties, and dysmorphic features.
DE   White matter abnormalities and delayed myelination are observed on
DE   brain imaging.
DR   MIM; 619460; phenotype.
DR   MedGen; CN300315.
DR   MeSH; D008607.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Luscan-Lumish syndrome.
AC   DI-04661
AR   LLS.
DE   An autosomal dominant syndrome with a variable phenotype. Clinical
DE   features include macrocephaly, distinctive facial appearance,
DE   postnatal overgrowth, various degrees of learning difficulties, autism
DE   spectrum disorder, and intellectual disability.
DR   MIM; 616831; phenotype.
DR   MedGen; CN235340.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Luteinizing hormone resistance.
AC   DI-01902
AR   LHR.
DE   An autosomal recessive disorder characterized by unresponsiveness to
DE   luteinizing hormone, defective sexual development in males, and
DE   defective follicular development and ovulation, amenorrhea and
DE   infertility in females. Two forms of the disorder have been defined in
DE   males. Type 1 is a severe form characterized by complete 46,XY male
DE   pseudohermaphroditism, low testosterone and high luteinizing hormone
DE   levels, total lack of responsiveness to luteinizing and chorionic
DE   gonadotropin hormones, lack of breast development, and absent
DE   development of secondary male sex characteristics. Type 2, a milder
DE   form, displays a broader range of phenotypic expression ranging from
DE   micropenis to severe hypospadias.
SY   Female luteinizing hormone resistance.
SY   Hypergonadotropic hypogonadism male due to LHCGR defect.
SY   Leydig cell agenesis.
SY   Leydig cell hypoplasia.
SY   Leydig cell hypoplasia complete.
SY   Leydig cell hypoplasia partial.
SY   Leydig cell hypoplasia type I.
SY   Leydig cell hypoplasia type II.
SY   Leydig cell hypoplasia with male pseudohermaphroditism.
SY   Ovarian luteinizing hormone resistance.
SY   Testicular luteinizing hormone resistance.
DR   MIM; 238320; phenotype.
DR   MedGen; C0266432.
DR   MedGen; C2673495.
DR   MedGen; C2673497.
DR   MedGen; C2673498.
DR   MeSH; D007006.
//
ID   Lymphangioleiomyomatosis.
AC   DI-01919
AR   LAM.
DE   Progressive and often fatal lung disease characterized by a diffuse
DE   proliferation of abnormal smooth muscle cells in the lungs. It affects
DE   almost exclusively young women and can occur as an isolated disorder
DE   or in association with tuberous sclerosis complex.
DR   MIM; 606690; phenotype.
DR   MedGen; C0751674.
//
ID   Lymphatic malformation 1.
AC   DI-00692
AR   LMPHM1.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM1 is an autosomal dominant form with
DE   variable expression and severity. Onset is usually at birth or in
DE   early childhood but can occur later. Affected individuals manifest
DE   lymphedema, predominantly in the lower limbs, and hypoplasia of
DE   lymphatic vessels. Additional features are hemangioma and nail
DE   dysplasia or papillomatosis.
SY   LMPH1A.
SY   Lymphedema, hereditary, 1A.
SY   Lymphedema early-onset.
SY   Lymphedema hereditary type IA.
SY   Milroy disease.
SY   Nonne-Milroy lymphedema.
SY   PCL.
SY   Primary congenital lymphedema.
DR   MIM; 153100; phenotype.
DR   MedGen; C1704423.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 10.
AC   DI-06134
AR   LMPHM10.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM10 is an autosomal dominant form
DE   characterized by the onset of swelling in the lower extremities within
DE   the first year of life. Lymphedema may also occur in the neck, upper
DE   extremities, and scrotum or labia majora. Gradual resorption generally
DE   occurs, although some patients may experience progression complicated
DE   by cellulitis. Incomplete penetrance has been observed in some
DE   families.
DR   MIM; 619369; phenotype.
DR   MedGen; CN296940.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 11.
AC   DI-06136
AR   LMPHM11.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM11 is an autosomal dominant form
DE   characterized by onset of lower extremity edema in the second or third
DE   decade of life. Some affected individuals may have subclinical
DE   lymphatic malformations.
DR   MIM; 619401; phenotype.
DR   MedGen; CN299205.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 12.
AC   DI-06490
AR   LMPHM12.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM12 is an autosomal recessive, severe
DE   form often resulting in fetal or perinatal demise. It is characterized
DE   by dysfunction of core collecting lymphatic vessels, including the
DE   thoracic duct and cisterna chyli, non-immune hydrops fetalis,
DE   chylothorax, pleural effusions, and chylous ascites.
SY   CCLA.
SY   Central conducting lymphatic anomaly.
DR   MIM; 620014; phenotype.
DR   MedGen; CN315961.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 13.
AC   DI-06611
AR   LMPHM13.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM13 is an autosomal recessive form
DE   characterized by fetal onset of pleural and peritoneal effusions and
DE   the presence of moderate to severe non-immune hydrops fetalis that
DE   often resolves with age. Affected individuals show relatively normal
DE   growth and development, apart from mild ascites and hemangiomas. Most
DE   patients have congenital cardiac defects.
SY   Hydrops fetalis, nonimmune, with cardiac defects and hemangiomas.
DR   MIM; 620244; phenotype.
DR   MedGen; CN323358.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 3.
AC   DI-02795
AR   LMPHM3.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM3 is an autosomal dominant form with
DE   variable severity and reduced penetrance. Affected individuals
DE   manifest lymphedema of the lower limbs and some patients have
DE   lymphedema of the hands.
SY   LMPH1C.
SY   Lymphedema, hereditary, 1C.
SY   Lymphedema hereditary type IC.
DR   MIM; 613480; phenotype.
DR   MedGen; C3150732.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 4.
AC   DI-04160
AR   LMPHM4.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM4 is an autosomal dominant form with
DE   onset at birth or in early childhood. Affected individuals manifest
DE   lymphedema of lower limbs with prominent veins, and impaired lymphatic
DE   uptake and drainage. Additional features are nail dysplasia, skin
DE   hyperkeratosis and papillomatosis.
SY   Hereditary lymphedema ID.
SY   LMPH1D.
SY   Lymphedema, hereditary, 1D.
DR   MIM; 615907; phenotype.
DR   MedGen; CN197013.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 6.
AC   DI-04669
AR   LMPHM6.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM6 is an autosomal recessive, severe
DE   form manifesting as generalized lymphatic dysplasia. It is
DE   characterized by uniform, widespread swelling of all segments of the
DE   body, with systemic involvement such as intestinal and/or pulmonary
DE   lymphangiectasia, pleural effusions, chylothoraces and/or pericardial
DE   effusions, and with a high incidence of non- immune hydrops fetalis.
SY   Generalized lymphatic dysplasia of Fotiou.
SY   LMPH3.
SY   Lymphedema, hereditary, 3.
SY   Lymphedema, hereditary, III.
DR   MIM; 616843; phenotype.
DR   MedGen; CN235387.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 7.
AC   DI-04930
AR   LMPHM7.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. LMPHM7 is an autosomal dominant form with
DE   variable expressivity. Some individuals present with severe non-immune
DE   hydrops fetalis, which may cause perinatal demise or fully resolve
DE   after the neonatal period. Others present with no edema and have
DE   milder clinical features, such as atrial septal defect or varicose
DE   veins as adults.
SY   Central conduction lymphatic anomaly.
SY   HFASD.
SY   Hydrops fetalis, non-immune, and/or atrial septal defect.
DR   MIM; 617300; phenotype.
DR   MedGen; CN239945.
DR   MeSH; D008209.
//
ID   Lymphatic malformation 8.
AC   DI-05757
AR   LMPHM8.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Adult patients with lymphedema may suffer from
DE   recurrent local infections. Impaired lymphatic drainage in the fetus
DE   can develop into hydrops fetalis, a severe condition characterized by
DE   excessive fluid accumulation in more than two fetal extra-vascular
DE   compartments and body cavities, placental enlargement and edema,
DE   pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal
DE   recessive form characterized by onset in utero and fetal death due to
DE   non-immune hydrops fetalis.
DR   MIM; 618773; phenotype.
DR   MedGen; CN263266.
DR   MeSH; D015160.
//
ID   Lymphatic malformation 9.
AC   DI-06104
AR   LMPHM9.
DE   A form of primary lymphedema, a disease characterized by swelling of
DE   body parts due to developmental anomalies and functional defects of
DE   the lymphatic system. Patients with lymphedema may suffer from
DE   recurrent local infections. Impaired lymphatic drainage in the fetus
DE   can develop into hydrops fetalis, a severe condition characterized by
DE   excessive fluid accumulation in more than two fetal extra-vascular
DE   compartments and body cavities, placental enlargement and edema,
DE   pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal
DE   dominant form with variable expressivity and incomplete penetrance,
DE   characterized by the onset of lower-extremity lymphedema in the first
DE   decades of life.
DR   MIM; 619319; phenotype.
DR   MedGen; CN296786.
DR   MeSH; D008209.
//
ID   Lymphedema, hereditary, 2.
AC   DI-00693
AR   LMPH2.
DE   A chronic disabling condition which results in swelling of the
DE   extremities due to altered lymphatic flow. Patients with lymphedema
DE   suffer from recurrent local infections, and physical impairment.
SY   Late-onset lymphedema.
SY   Lymphedema, hereditary, II.
SY   Lymphedema, late-onset.
SY   Lymphedema praecox.
SY   Meige disease.
SY   Meige lymphedema.
DR   MIM; 153200; phenotype.
DR   MedGen; C0238261.
DR   MeSH; D008209.
//
ID   Lymphedema, primary, with myelodysplasia.
AC   DI-03299
AR   LMPM.
DE   A chronic disabling condition characterized by swelling of the
DE   extremities due to altered lymphatic flow, associated with
DE   myelodysplasia. Patients with lymphedema suffer from recurrent local
DE   infections, and physical impairment.
SY   Emberger syndrome.
DR   MIM; 614038; phenotype.
DR   MedGen; C3279664.
DR   MeSH; D008209.
//
ID   Lymphedema-distichiasis syndrome.
AC   DI-00690
AR   LPHDST.
DE   An autosomal dominant disorder characterized by primary limb
DE   lymphedema associated with distichiasis (double rows of eyelashes,
DE   with extra eyelashes growing from the Meibomian gland orifices).
DE   Swelling of the extremities, due to altered lymphatic flow, usually
DE   appears in late childhood or puberty. Most affected individuals have
DE   ocular findings including corneal irritation, recurrent
DE   conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis)
DE   is a variable feature of the lymphedema-distichiasis syndrome,
DE   occurring in about 30% of patients.
SY   Lymphedema with distichiasis.
DR   MIM; 153400; phenotype.
DR   MedGen; C0265345.
DR   MedGen; C2675066.
DR   MeSH; D008209.
//
ID   Lymphedema-yellow nails.
AC   DI-00691
AR   LYYN.
DE   A disorder characterized by yellow, dystrophic, thick and slowly
DE   growing nails, associated with lymphedema and respiratory involvement.
DE   Lymphedema occurs more often in the lower limbs. It can appear at
DE   birth or later in life. Onset generally follows the onset of ungual
DE   abnormalities.
SY   Lymphedema and yellow nails.
SY   Yellow nail syndrome.
SY   YNS.
DR   MIM; 153300; phenotype.
DR   MedGen; C0221348.
DR   MeSH; D008209.
//
ID   Lymphoma, Hodgkin, classic.
AC   DI-02721
AR   CHL.
DE   A malignant disease characterized by progressive enlargement of the
DE   lymph nodes, spleen and general lymphoid tissue, and the presence of
DE   large, usually multinucleate, cells (Reed-Sternberg cells). Reed-
DE   Sternberg cells compose only 1-2% of the total tumor cell mass. The
DE   remainder is composed of a variety of reactive, mixed inflammatory
DE   cells consisting of lymphocytes, plasma cells, neutrophils,
DE   eosinophils and histiocytes.
SY   Hodgkin disease.
DR   MIM; 236000; phenotype.
DR   MedGen; C0019829.
DR   MeSH; D006689.
//
ID   Lymphoma, mucosa-associated lymphoid type.
AC   DI-04738
AR   MALTOMA.
DE   A subtype of non-Hodgkin lymphoma, originating in mucosa-associated
DE   lymphoid tissue. MALT lymphomas occur most commonly in the gastro-
DE   intestinal tract but have been described in a variety of extranodal
DE   sites including the ocular adnexa, salivary gland, thyroid, lung,
DE   thymus, and breast. Histologically, they are characterized by an
DE   infiltrate of small to medium-sized lymphocytes with abundant
DE   cytoplasm and irregularly shaped nuclei. Scattered transformed blasts
DE   (large cells) also are present. Non-malignant reactive follicles are
DE   observed frequently. A pivotal feature is the presence of
DE   lymphoepithelial lesions, with invasion and partial destruction of
DE   mucosal glands and crypts by aggregates of tumor cells.
SY   Gastric lymphoma, primary.
SY   Lymphoma, MALT, somatic.
SY   MALT lymphoma.
SY   Marginal zone B-cell lymphoma.
SY   Primary gastric lymphoma.
DR   MIM; 137245; phenotype.
DR   MedGen; C1850900.
DR   MeSH; D018442.
//
ID   Lymphoproliferative syndrome 1.
AC   DI-02628
AR   LPFS1.
DE   A rare immunodeficiency characterized by extreme susceptibility to
DE   infection with Epstein-Barr virus (EBV). Inadequate immune response to
DE   EBV can have a fatal outcome. Clinical features include splenomegaly,
DE   lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent
DE   infections. There is an increased risk for lymphoma.
SY   Lymphoproliferative syndrome, EBV-associated, autosomal, 1.
DR   MIM; 613011; phenotype.
DR   MedGen; C2751686.
DR   MedGen; C3552634.
DR   MeSH; D008232.
//
ID   Lymphoproliferative syndrome 2.
AC   DI-03702
AR   LPFS2.
DE   An autosomal recessive immunodeficiency disorder associated with
DE   persistent symptomatic EBV viremia, hypogammaglobulinemia, and
DE   impaired T-cell-dependent B-cell responses and T-cell dysfunction. The
DE   phenotype is highly variable, ranging from asymptomatic borderline-low
DE   hypogammaglobulinemia, to a full-blown symptomatic systemic
DE   inflammatory response with life-threatening EBV-related complications,
DE   including hemophagocytic lymphohistiocytosis, a lymphoproliferative
DE   disorder, and malignant lymphoma requiring stem cell transplantation.
SY   CD27 deficiency.
DR   MIM; 615122; phenotype.
DR   MedGen; C3554540.
DR   MedGen; CN168059.
DR   MeSH; D008232.
//
ID   Lymphoproliferative syndrome 3.
AC   DI-05443
AR   LPFS3.
DE   An autosomal recessive, early-onset immunologic disorder characterized
DE   by increased susceptibility to Epstein-Barr virus infection in B
DE   cells, abnormal B-cell proliferation and increased susceptibility to
DE   B-cell malignancies, including Hodgkin lymphoma. Patients usually have
DE   lymphadenopathy and hypogammaglobulinemia, and may suffer from
DE   recurrent infections.
DR   MIM; 618261; phenotype.
DR   MedGen; CN258055.
DR   MeSH; D008232.
//
ID   Lymphoproliferative syndrome, X-linked, 1.
AC   DI-00694
AR   XLP1.
DE   A rare immunodeficiency characterized by extreme susceptibility to
DE   infection with Epstein-Barr virus (EBV). Symptoms include severe or
DE   fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and
DE   malignant lymphoma.
SY   Duncan disease.
SY   IMD5.
SY   Immunodeficiency 5.
SY   Purtilo syndrome.
SY   X-linked lymphoproliferative disease.
SY   X-linked progressive combined variable immunodeficiency.
SY   XLPD.
DR   MIM; 308240; phenotype.
DR   MedGen; C0549463.
DR   MedGen; C1868674.
DR   MeSH; D008232.
//
ID   Lymphoproliferative syndrome, X-linked, 2.
AC   DI-00695
AR   XLP2.
DE   A rare immunodeficiency characterized by extreme susceptibility to
DE   infection with Epstein-Barr virus (EBV). Symptoms include severe or
DE   fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and
DE   malignant lymphoma.
SY   XIAP deficiency.
DR   MIM; 300635; phenotype.
DR   MedGen; C1845076.
DR   MeSH; D008232.
//
ID   Lynch syndrome 1.
AC   DI-00550
AR   LYNCH1.
DE   A form of Lynch syndrome, an autosomal dominant disease associated
DE   with marked increase in cancer susceptibility. It is characterized by
DE   a familial predisposition to early-onset colorectal carcinoma (CRC)
DE   and extra-colonic tumors of the gastrointestinal, urological and
DE   female reproductive tracts. Lynch syndrome is reported to be the most
DE   common form of inherited colorectal cancer in the Western world.
DE   Clinically, it is often divided into two subgroups. Type I is
DE   characterized by hereditary predisposition to colorectal cancer, a
DE   young age of onset, and carcinoma observed in the proximal colon. Type
DE   II is characterized by increased risk for cancers in certain tissues
DE   such as the uterus, ovary, breast, stomach, small intestine, skin, and
DE   larynx in addition to the colon. Diagnosis of classical Lynch syndrome
DE   is based on the Amsterdam criteria: 3 or more relatives affected by
DE   colorectal cancer, one a first degree relative of the other two; 2 or
DE   more generation affected; 1 or more colorectal cancers presenting
DE   before 50 years of age; exclusion of hereditary polyposis syndromes.
DE   The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can
DE   be used to describe families who do not or only partially fulfill the
DE   Amsterdam criteria, but in whom a genetic basis for colon cancer is
DE   strongly suspected.
SY   Hereditary non-polyposis colorectal cancer 1.
SY   HNPCC1.
SY   Lynch cancer family syndrome.
SY   Lynch syndrome.
SY   Lynch syndrome type I.
SY   Lynch syndrome type II.
DR   MIM; 120435; phenotype.
DR   MedGen; C0009405.
DR   MedGen; C1333990.
DR   MedGen; CN068508.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Lynch syndrome 2.
AC   DI-00551
AR   LYNCH2.
DE   A form of Lynch syndrome, an autosomal dominant disease associated
DE   with marked increase in cancer susceptibility. It is characterized by
DE   a familial predisposition to early-onset colorectal carcinoma (CRC)
DE   and extra-colonic tumors of the gastrointestinal, urological and
DE   female reproductive tracts. Lynch syndrome is reported to be the most
DE   common form of inherited colorectal cancer in the Western world.
DE   Clinically, it is often divided into two subgroups. Type I is
DE   characterized by hereditary predisposition to colorectal cancer, a
DE   young age of onset, and carcinoma observed in the proximal colon. Type
DE   II is characterized by increased risk for cancers in certain tissues
DE   such as the uterus, ovary, breast, stomach, small intestine, skin, and
DE   larynx in addition to the colon. Diagnosis of classical Lynch syndrome
DE   is based on the Amsterdam criteria: 3 or more relatives affected by
DE   colorectal cancer, one a first degree relative of the other two; 2 or
DE   more generation affected; 1 or more colorectal cancers presenting
DE   before 50 years of age; exclusion of hereditary polyposis syndromes.
DE   The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can
DE   be used to describe families who do not or only partially fulfill the
DE   Amsterdam criteria, but in whom a genetic basis for colon cancer is
DE   strongly suspected.
SY   Hereditary non-polyposis colorectal cancer 2.
SY   HNPCC2.
DR   MIM; 609310; phenotype.
DR   MedGen; C1333991.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Lynch syndrome 4.
AC   DI-00553
AR   LYNCH4.
DE   A form of Lynch syndrome, an autosomal dominant disease associated
DE   with marked increase in cancer susceptibility. It is characterized by
DE   a familial predisposition to early-onset colorectal carcinoma (CRC)
DE   and extra-colonic tumors of the gastrointestinal, urological and
DE   female reproductive tracts. Lynch syndrome is reported to be the most
DE   common form of inherited colorectal cancer in the Western world.
DE   Clinically, it is often divided into two subgroups. Type I is
DE   characterized by hereditary predisposition to colorectal cancer, a
DE   young age of onset, and carcinoma observed in the proximal colon. Type
DE   II is characterized by increased risk for cancers in certain tissues
DE   such as the uterus, ovary, breast, stomach, small intestine, skin, and
DE   larynx in addition to the colon. Diagnosis of classical Lynch syndrome
DE   is based on the Amsterdam criteria: 3 or more relatives affected by
DE   colorectal cancer, one a first degree relative of the other two; 2 or
DE   more generation affected; 1 or more colorectal cancers presenting
DE   before 50 years of age; exclusion of hereditary polyposis syndromes.
DE   The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can
DE   be used to describe families who do not or only partially fulfill the
DE   Amsterdam criteria, but in whom a genetic basis for colon cancer is
DE   strongly suspected.
SY   Hereditary non-polyposis colorectal cancer 4.
SY   HNPCC4.
DR   MIM; 614337; phenotype.
DR   MedGen; C1838333.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Lynch syndrome 5.
AC   DI-00554
AR   LYNCH5.
DE   A form of Lynch syndrome, an autosomal dominant disease associated
DE   with marked increase in cancer susceptibility. It is characterized by
DE   a familial predisposition to early-onset colorectal carcinoma (CRC)
DE   and extra-colonic tumors of the gastrointestinal, urological and
DE   female reproductive tracts. Lynch syndrome is reported to be the most
DE   common form of inherited colorectal cancer in the Western world.
DE   Clinically, it is often divided into two subgroups. Type I is
DE   characterized by hereditary predisposition to colorectal cancer, a
DE   young age of onset, and carcinoma observed in the proximal colon. Type
DE   II is characterized by increased risk for cancers in certain tissues
DE   such as the uterus, ovary, breast, stomach, small intestine, skin, and
DE   larynx in addition to the colon. Diagnosis of classical Lynch syndrome
DE   is based on the Amsterdam criteria: 3 or more relatives affected by
DE   colorectal cancer, one a first degree relative of the other two; 2 or
DE   more generation affected; 1 or more colorectal cancers presenting
DE   before 50 years of age; exclusion of hereditary polyposis syndromes.
DE   The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can
DE   be used to describe families who do not or only partially fulfill the
DE   Amsterdam criteria, but in whom a genetic basis for colon cancer is
DE   strongly suspected.
SY   Hereditary non-polyposis colorectal cancer 5.
SY   HNPCC5.
DR   MIM; 614350; phenotype.
DR   MedGen; C1833477.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Lynch syndrome 8.
AC   DI-02724
AR   LYNCH8.
DE   A form of Lynch syndrome, an autosomal dominant disease associated
DE   with marked increase in cancer susceptibility. It is characterized by
DE   a familial predisposition to early-onset colorectal carcinoma (CRC)
DE   and extra-colonic tumors of the gastrointestinal, urological and
DE   female reproductive tracts. Lynch syndrome is reported to be the most
DE   common form of inherited colorectal cancer in the Western world.
DE   Clinically, it is often divided into two subgroups. Type I is
DE   characterized by hereditary predisposition to colorectal cancer, a
DE   young age of onset, and carcinoma observed in the proximal colon. Type
DE   II is characterized by increased risk for cancers in certain tissues
DE   such as the uterus, ovary, breast, stomach, small intestine, skin, and
DE   larynx in addition to the colon. Diagnosis of classical Lynch syndrome
DE   is based on the Amsterdam criteria: 3 or more relatives affected by
DE   colorectal cancer, one a first degree relative of the other two; 2 or
DE   more generation affected; 1 or more colorectal cancers presenting
DE   before 50 years of age; exclusion of hereditary polyposis syndromes.
DE   The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can
DE   be used to describe families who do not or only partially fulfill the
DE   Amsterdam criteria, but in whom a genetic basis for colon cancer is
DE   strongly suspected.
SY   Hereditary non-polyposis colorectal cancer 8.
SY   HNPCC8.
DR   MIM; 613244; phenotype.
DR   MedGen; C2750471.
DR   MeSH; D003123.
KW   KW-0362:Hereditary nonpolyposis colorectal cancer.
//
ID   Lysinuric protein intolerance.
AC   DI-01920
AR   LPI.
DE   A metabolic disorder characterized by increased renal excretion of
DE   cationic amino acid (CAA), reduced CAA absorption from intestine, and
DE   orotic aciduria. On a normal diet, LPI patients present poor feeding,
DE   vomiting, diarrhea, episodes of hyperammoniaemic coma and growth
DE   retardation. Hepatosplenomegaly, osteoporosis and a life-threatening
DE   pulmonary involvement (alveolar proteinosis) are also seen.
DE   Biochemically LPI is characterized by defective transport of dibasic
DE   amino acids at the basolateral membrane of epithelial cells in kidney
DE   and intestine.
SY   Dibasic amino aciduria II.
DR   MIM; 222700; phenotype.
DR   MedGen; C0268647.
DR   MeSH; D000592.
//
ID   Macrocephaly, acquired, with impaired intellectual development.
AC   DI-05465
AR   MACID.
DE   An autosomal dominant disorder characterized by postnatal macrocephaly
DE   and borderline to mild intellectual disability. Additional variable
DE   neurodevelopmental features include muscular hypotonia, motor and
DE   speech delay, attention deficit disorder, autism spectrum disorder,
DE   and behavioral abnormalities. Some patients present corpus callosum
DE   dysgenesis.
DR   MIM; 618286; phenotype.
DR   MedGen; CN258138.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Macrocephaly, dysmorphic facies, and psychomotor retardation.
AC   DI-04773
AR   MDFPMR.
DE   An autosomal recessive syndrome characterized by large head and
DE   somatic overgrowth, intellectual disability, and facial dysmorphism.
DE   Seizures, hypotonia and ataxic gait are observed in some patients.
DR   MIM; 617011; phenotype.
DR   MedGen; CN237397.
DR   MeSH; D006130.
DR   MeSH; D008607.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin.
AC   DI-06356
AR   MNDLFH.
DE   An autosomal dominant disease characterized by pharyngeal lymphoid
DE   hypertrophy, with adenoid overgrowth, sleep apnea, macrocephaly
DE   without structural brain abnormalities, and impaired intellectual
DE   development. An increased fraction of fetal hemoglobin has been
DE   observed in some patients.
DR   MIM; 619769; phenotype.
DR   MedGen; CN306945.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Macrocephaly/autism syndrome.
AC   DI-01924
AR   MCEPHAS.
DE   Patients have autism spectrum disorders and macrocephaly, with head
DE   circumferences ranging from +2.5 to +8 SD for age and sex (average
DE   head circumference +4.0 SD).
DR   MIM; 605309; phenotype.
DR   MedGen; C1854416.
KW   KW-1268:Autism spectrum disorder.
//
ID   Macrocephaly/megalencephaly syndrome, autosomal recessive.
AC   DI-03993
AR   MGCPH.
DE   An autosomal recessive disorder characterized by abnormal enlargement
DE   of the cerebral hemispheres, intellectual disability, large head,
DE   optic atrophy and underdeveloped skeletal musculature. Head
DE   enlargement may be evident at birth or the head may become abnormally
DE   large in the early years of life. Additional clinical features include
DE   behavioral abnormalities, psychosis, learning difficulties,
DE   prognathism, myopia and astigmatism.
DR   MIM; 248000; phenotype.
DR   MedGen; C3806412.
DR   MeSH; D058627.
//
ID   Macrodactyly.
AC   DI-05365
AR   MADAC.
DE   A congenital anomaly characterized by fibrofatty tissue enlargement
DE   and bony overgrowth affecting the digits or the entire hand or foot.
SY   Congenital macrodactylia.
SY   Megalodactyly.
SY   Type I macrodactyly.
DR   MIM; 155500; phenotype.
DR   MedGen; C0265552.
DR   MeSH; D017880.
//
ID   Macroglobulinemia, Waldenstrom, 1.
AC   DI-06042
AR   WM1.
DE   A malignant B-cell neoplasm characterized by lymphoplasmacytic
DE   infiltration of the bone marrow and hypersecretion of monoclonal
DE   immunoglobulin M (IgM) protein. Clinical features are variable and
DE   include anemia, thrombocytopenia, hepatosplenomegaly, and
DE   lymphadenopathy. Many patients have asymptomatic or indolent disease.
SY   Macroglobulinemia, Waldenstrom, somatic.
DR   MIM; 153600; phenotype.
DR   MedGen; C1835192.
DR   MedGen; C3549870.
DR   MeSH; D008258.
//
ID   Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.
AC   DI-01951
AR   MATINS.
DE   An autosomal dominant disorder characterized by thrombocytopenia,
DE   giant platelets and Dohle body-like inclusions in peripheral blood
DE   leukocytes with variable ultrastructural appearance. Some affected
DE   individuals lack leukocyte inclusion bodies on classic staining of
DE   peripheral blood smears. Alport syndrome-like features of nephritis,
DE   hearing loss, and eye abnormalities are present in some patients.
SY   Alport syndrome, with macrothrombocytopenia.
SY   BDPLT6.
SY   Bleeding disorder platelet-type 6.
SY   Dohle leukocyte inclusions with giant platelets.
SY   Epstein syndrome.
SY   EPSTNS.
SY   Fechtner syndrome.
SY   FTNS.
SY   Giant platelet syndrome with thrombocytopenia.
SY   Macrothrombocytopathy, nephritis, and deafness.
SY   Macrothrombocytopathy-nephritis-deafness.
SY   Macrothrombocytopenia and progressive sensorineural deafness.
SY   Macrothrombocytopenia with leukocyte inclusions.
SY   May-Hegglin anomaly.
SY   MHA.
SY   MPSD.
SY   SBS.
SY   Sebastian platelet syndrome.
SY   Sebastian syndrome.
DR   MIM; 155100; phenotype.
DR   MedGen; C0340978.
DR   MeSH; D013921.
//
ID   Macrothrombocytopenia, isolated, 1, autosomal dominant.
AC   DI-02623
AR   MACTHC1.
DE   A congenital blood disorder characterized by increased platelet size
DE   and decreased number of circulating platelets.
DR   MIM; 613112; phenotype.
DR   MedGen; C2751259.
DR   MeSH; D013921.
//
ID   Macrothrombocytopenia, isolated, 2, autosomal dominant.
AC   DI-06398
AR   MACTHC2.
DE   A congenital blood disorder characterized by increased platelet size
DE   and decreased number of circulating platelets. Affected individuals
DE   usually are asymptomatic and do not have increased bleeding episodes.
DR   MIM; 619840; phenotype.
DR   MedGen; CN311879.
DR   MeSH; D013921.
//
ID   MACS syndrome.
AC   DI-02637
AR   MACS.
DE   A complex disorder of elastic tissue characterized by sagging skin and
DE   occasionally by life-threatening visceral complications.
SY   Macrocephaly alopecia cutis laxa and scoliosis syndrome.
SY   Tall forehead, sparse hair, skin hyperextensibility, and scoliosis.
DR   MIM; 613075; phenotype.
DR   MedGen; C2751321.
DR   MeSH; D000505.
DR   MeSH; D003483.
DR   MeSH; D012600.
DR   MeSH; D058627.
//
ID   Macular degeneration, age-related, 1.
AC   DI-00055
AR   ARMD1.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 603075; phenotype.
DR   MedGen; C1864205.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 10.
AC   DI-00063
AR   ARMD10.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 611488; phenotype.
DR   MedGen; C1969108.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 11.
AC   DI-00064
AR   ARMD11.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 611953; phenotype.
DR   MedGen; C2677774.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 12.
AC   DI-03063
AR   ARMD12.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 613784; phenotype.
DR   MedGen; C3151079.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 13.
AC   DI-03914
AR   ARMD13.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 615439; phenotype.
DR   MedGen; C3809523.
DR   MedGen; CN180174.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 14.
AC   DI-03919
AR   ARMD14.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 615489; phenotype.
DR   MedGen; C3809653.
DR   MedGen; CN180565.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 15.
AC   DI-03998
AR   ARMD15.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 615591; phenotype.
DR   MedGen; C3810042.
DR   MedGen; CN183070.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 2.
AC   DI-00056
AR   ARMD2.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 153800; phenotype.
DR   MedGen; C3495438.
DR   MedGen; CN031413.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 3.
AC   DI-00057
AR   ARMD3.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 608895; phenotype.
DR   MedGen; C1837187.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 4.
AC   DI-00058
AR   ARMD4.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 610698; phenotype.
DR   MedGen; C1853147.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 5.
AC   DI-02999
AR   ARMD5.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 613761; phenotype.
DR   MedGen; C3151063.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 6.
AC   DI-00059
AR   ARMD6.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 613757; phenotype.
DR   MedGen; C3151060.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 7.
AC   DI-00060
AR   ARMD7.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 610149; phenotype.
DR   MedGen; C1857813.
DR   MedGen; C1857814.
DR   MedGen; C1857815.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 8.
AC   DI-00061
AR   ARMD8.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 613778; phenotype.
DR   MedGen; C3151070.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, age-related, 9.
AC   DI-00062
AR   ARMD9.
DE   A form of age-related macular degeneration, a multifactorial eye
DE   disease and the most common cause of irreversible vision loss in the
DE   developed world. In most patients, the disease is manifest as
DE   ophthalmoscopically visible yellowish accumulations of protein and
DE   lipid that lie beneath the retinal pigment epithelium and within an
DE   elastin-containing structure known as Bruch membrane.
DR   MIM; 611378; phenotype.
DR   MedGen; C1969651.
DR   MeSH; D008268.
KW   KW-0913:Age-related macular degeneration.
//
ID   Macular degeneration, atrophic, X-linked.
AC   DI-03005
AR   MDXLA.
DE   An ocular disorder characterized by macular atrophy causing
DE   progressive loss of visual acuity with minimal peripheral visual
DE   impairment. Some patients manifest extensive macular degeneration plus
DE   peripheral loss of retinal pigment epithelium and choriocapillaries.
DE   Full-field electroretinograms (ERGs) show normal cone and rod
DE   responses in some affected males despite advanced macular
DE   degeneration.
DR   MIM; 300834; phenotype.
DR   MedGen; C3151784.
DR   MeSH; D008268.
//
ID   Macular degeneration, early-onset.
AC   DI-04285
AR   EOMD.
DE   An ocular disorder characterized by macular changes resulting in
DE   progressive loss of visual acuity.
DR   MIM; 616118; phenotype.
DR   MedGen; CN221671.
DR   MeSH; D008268.
//
ID   Macular dystrophy with central cone involvement.
AC   DI-04295
AR   CCMD.
DE   An ocular disease characterized by decreased visual acuity, slight
DE   pigmentary changes and color vision abnormalities, becoming apparent
DE   in the third to sixth decade of life. Fundus anomalies are variable
DE   and include bull's eye maculopathy, severe atrophy of central fovea,
DE   relatively spared fovea with surrounding atrophic ring, central
DE   retinal pigment epithelium and/or choroid changes, pale or atrophic
DE   peripapillary area, pale optic disk, relatively spared periphery, and
DE   slightly or moderately attenuated vessels.
DR   MIM; 616170; phenotype.
DR   MedGen; CN224989.
DR   MeSH; D005128.
//
ID   Macular dystrophy, corneal.
AC   DI-01925
AR   MCD.
DE   An ocular disease characterized by bilateral, progressive corneal
DE   opacification, and reduced corneal sensitivity. Onset occurs in the
DE   first decade, usually between ages 5 and 9. Painful attacks with
DE   photophobia, foreign body sensations, and recurrent erosions occur in
DE   most patients. The disease is due to deposition of an unsulfated
DE   keratan sulfate both within the intracellular space (within the
DE   keratocytes and endothelial cells) and in the extracellular corneal
DE   stroma. Macular corneal dystrophy is divided into the clinically
DE   indistinguishable types I, IA, and II based on analysis of the
DE   normally sulfated, or antigenic, keratan sulfate levels in serum and
DE   immunohistochemical evaluation of the cornea. Patients with types I
DE   and IA macular corneal dystrophy have undetectable serum levels of
DE   antigenic keratan sulfate, whereas those with type II macular corneal
DE   dystrophy have normal or low levels, depending on the population
DE   examined.
SY   Corneal dystrophy macular type.
SY   Groenouw type II corneal dystrophy.
SY   Macular corneal dystrophy type I.
SY   Macular corneal dystrophy type II.
SY   MCDC1.
DR   MIM; 217800; phenotype.
DR   MedGen; C1636149.
DR   MedGen; C1691013.
DR   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Macular dystrophy, patterned, 1.
AC   DI-00902
AR   MDPT1.
DE   A form of retinal patterned dystrophy, a heterogeneous group of
DE   macular disorders that includes reticular (fishnet-like) dystrophy,
DE   macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment
DE   dystrophy.
SY   Butterfly dystrophy of retinal pigment epithelium.
SY   Macular dystrophy, butterfly-shaped pigmentary.
SY   Patterned dystrophy of retinal pigment epithelium.
DR   MIM; 169150; phenotype.
DR   MedGen; C1868569.
DR   MeSH; D058499.
//
ID   Macular dystrophy, patterned, 2.
AC   DI-04710
AR   MDPT2.
DE   A form of retinal patterned dystrophy, a heterogeneous group of
DE   macular disorders caused by abnormal accumulation of lipofuscin in the
DE   retinal pigment epithelium. Lipofuscin distribution can show various
DE   shapes that define different types of macular dystrophy, including
DE   reticular (fishnet-like) dystrophy, macroreticular (spider-shaped)
DE   dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an
DE   autosomal dominant form characterized by bilateral accumulation of
DE   pigment in the macular area that resembles the wings of a butterfly.
SY   Macular dystrophy, butterfly-shaped pigmentary, 2.
DR   MIM; 608970; phenotype.
DR   MedGen; C1837029.
DR   MeSH; D058499.
//
ID   Macular dystrophy, patterned, 3.
AC   DI-04818
AR   MDPT3.
DE   A form of retinal patterned dystrophy, characterized by retinal
DE   pigment epithelium and Bruch's membrane changes resembling a 'dry
DE   desert land'. It begins around the age of 30 and progresses to
DE   retinitis pigmentosa. MDPT3 inheritance is autosomal dominant.
SY   Martinique crinkled retinal pigment epitheliopathy.
DR   MIM; 617111; phenotype.
DR   MedGen; CN238481.
DR   MeSH; D058499.
//
ID   Macular dystrophy, retinal, 2.
AC   DI-00968
AR   MCDR2.
DE   An autosomal dominant retinal disease characterized by
DE   dyschromatopsia, gradual progressive loss of central visual acuity,
DE   and bilateral annular atrophy of retinal pigment epithelium at the
DE   macula.
DR   MIM; 608051; phenotype.
DR   MedGen; C0339512.
DR   MeSH; D008268.
//
ID   Macular dystrophy, retinal, 4.
AC   DI-06454
AR   MCDR4.
DE   An autosomal dominant retinal disease characterized by late-onset
DE   macular degeneration, with multiple drusen-like deposits, macular
DE   geographic atrophy, and choroidal neovascularization. Patients also
DE   exhibit extensive retinal dysfunction with impaired rod function.
DR   MIM; 619977; phenotype.
DR   MedGen; CN315822.
DR   MeSH; D008268.
//
ID   Macular dystrophy, retinal, 5.
AC   DI-06652
AR   MCDR5.
DE   An autosomal recessive, late-onset form of of macular dystrophy, a
DE   group of inherited retinal disorders that cause significant visual
DE   loss, most often as a result of progressive macular atrophy. MCDR5
DE   symptoms include reduced visual acuity, difficulty reading, photopsias
DE   in the central visual field, poor contrast vision, and metamorphopsia.
DE   Night blindness is uncommon.
DR   MIM; 613660; phenotype.
DR   MeSH; D008268.
//
ID   Macular dystrophy, vitelliform, 2.
AC   DI-01124
AR   VMD2.
DE   An autosomal dominant form of macular degeneration that usually begins
DE   in childhood or adolescence. VMD2 is characterized by typical 'egg-
DE   yolk' macular lesions due to abnormal accumulation of lipofuscin
DE   within and beneath the retinal pigment epithelium cells. Progression
DE   of the disease leads to destruction of the retinal pigment epithelium
DE   and vision loss.
SY   Best's macular dystrophy.
SY   Best disease.
SY   Best macular dystrophy.
SY   Best vitelliform macular dystrophy.
SY   Best vitelliform macular dystrophy, multifocal.
SY   BMD.
SY   Early-onset vitelliform macular dystrophy.
SY   Juvenile-onset vitelliform macular dystrophy.
SY   Macular degeneration, polymorphic vitelline.
SY   VMD.
DR   MIM; 153700; phenotype.
DR   MedGen; C0339510.
DR   MedGen; C2675055.
DR   MedGen; C2745945.
DR   MeSH; D057826.
//
ID   Macular dystrophy, vitelliform, 3.
AC   DI-00051
AR   VMD3.
DE   A form of vitelliform macular dystrophy, a retinal disease
DE   characterized by yellow, lipofuscin-containing deposits, usually
DE   localized at the center of the macula. Patients usually become
DE   symptomatic in the fourth or fifth decade of life with a protracted
DE   disease of decreased visual acuity.
SY   Adult-onset foveomacular dystrophy.
SY   Adult-onset vitelliform macular dystrophy.
SY   AOFMD.
SY   AVMD.
SY   Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization.
DR   MIM; 608161; phenotype.
DR   MedGen; C1842914.
DR   MeSH; D057826.
//
ID   Macular dystrophy, vitelliform, 4.
AC   DI-04286
AR   VMD4.
DE   A form of macular dystrophy, a retinal disease in which various forms
DE   of deposits, pigmentary changes, and atrophic lesions are observed in
DE   the macula lutea. Vitelliform macular dystrophies are characterized by
DE   yellow, lipofuscin-containing deposits, usually localized at the
DE   center of the macula. VMD4 features include late-onset moderate visual
DE   impairment, small satellite drusen-like lesions in the foveal area,
DE   and preservation of retinal pigment epithelium reflectivity.
DR   MIM; 616151; phenotype.
DR   MedGen; CN224845.
DR   MeSH; D057826.
//
ID   Macular dystrophy, vitelliform, 5.
AC   DI-04287
AR   VMD5.
DE   A form of macular dystrophy, a retinal disease in which various forms
DE   of deposits, pigmentary changes, and atrophic lesions are observed in
DE   the macula lutea. Vitelliform macular dystrophies are characterized by
DE   yellow, lipofuscin-containing deposits, usually localized at the
DE   center of the macula. VMD5 features include late-onset moderate visual
DE   impairment and preservation of retinal pigment epithelium
DE   reflectivity.
DR   MIM; 616152; phenotype.
DR   MedGen; CN224846.
DR   MeSH; D057826.
//
ID   Maculopathy, IMPG2-related.
AC   DI-02910
AR   MACLP-IMPG2.
DE   A mild maculopathy characterized by full-field electroretinogram
DE   responses within normal limits, normal color vision, elevation of the
DE   photoreceptor layer in the foveal region and mild nuclear sclerosis.
DR   MIM; 613581; phenotype.
DR   MedGen; C3150820.
DR   MeSH; D008268.
//
ID   Mahvash disease.
AC   DI-06086
AR   MVAH.
DE   An autosomal recessive disorder characterized by alpha-cell
DE   hyperplasia of the pancreas, hyperglucagonemia without glucagonoma
DE   syndrome, aminoacidemia, and occasional hypoglycemia. The disease may
DE   lead to glucagonomas and/or primitive neuroectodermal tumors.
SY   Alpha-cell hyperplasia with glucagonemia.
DR   MIM; 619290; phenotype.
DR   MedGen; C4763635.
DR   MeSH; D010182.
//
ID   Majeed syndrome.
AC   DI-01926
AR   MJDS.
DE   An autosomal recessive syndrome characterized by chronic recurrent
DE   multifocal osteomyelitis that is of early onset with a lifelong
DE   course, congenital dyserythropoietic anemia that presents as
DE   hypochromic, microcytic anemia during the first year of life and
DE   ranges from mild to transfusion-dependent, and transient inflammatory
DE   dermatosis, often manifesting as Sweet syndrome (neutrophilic skin
DE   infiltration).
SY   Chronic recurrent multifocal osteomyelitis, with congenital dyserythropoietic anemia and neutrophilic dermatosis.
SY   Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis;.
SY   CRMO1.
DR   MIM; 609628; phenotype.
DR   MedGen; C1864997.
DR   MeSH; D000742.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Major affective disorder 7.
AC   DI-02890
AR   MAFD7.
DE   A major psychiatric disorder that is characterized by severe mood
DE   swings, with fluctuation between two abnormal mood states (manic or
DE   major depressive episode). Mania is accompanied by symptoms of
DE   euphoria, irritability, or excitation, whereas depression is
DE   associated with low mood and decreased motivation and energy.
SY   Bipolar affective disorder.
SY   Manic depressive illness.
SY   Manic-depressive psychosis.
DR   MIM; 612371; phenotype.
DR   MedGen; C2700438.
DR   MeSH; D001714.
//
ID   Major depressive disorder.
AC   DI-00697
AR   MDD.
DE   A common psychiatric disorder. It is a complex trait characterized by
DE   one or more major depressive episodes without a history of manic,
DE   mixed, or hypomanic episodes. A major depressive episode is
DE   characterized by at least 2 weeks during which there is a new onset or
DE   clear worsening of either depressed mood or loss of interest or
DE   pleasure in nearly all activities. Four additional symptoms must also
DE   be present including changes in appetite, weight, sleep, and
DE   psychomotor activity; decreased energy; feelings of worthlessness or
DE   guilt; difficulty thinking, concentrating, or making decisions; or
DE   recurrent thoughts of death or suicidal ideation, plans, or attempts.
DE   The episode must be accompanied by distress or impairment in social,
DE   occupational, or other important areas of functioning.
SY   SAD.
SY   Seasonal affective disorder.
SY   Unipolar depression.
DR   MIM; 608516; phenotype.
DR   MedGen; C0041696.
DR   MedGen; C0085159.
DR   MedGen; C1269683.
DR   MeSH; D003865.
//
ID   Mal de Meleda.
AC   DI-00698
AR   MDM.
DE   A rare autosomal recessive skin disorder, characterized by diffuse
DE   transgressive palmoplantar keratoderma with keratotic lesions
DE   extending onto the dorsa of the hands and the feet (transgrediens).
DE   Patients may have hyperhidrosis. Other features include perioral
DE   erythema, lichenoid plaques on the knees and the elbows, and nail
DE   abnormalities.
SY   Keratosis palmoplantaris transgradiens of Siemens.
SY   Meleda disease.
DR   MIM; 248300; phenotype.
DR   MedGen; C0025221.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Malan syndrome.
AC   DI-03506
AR   MALNS.
DE   An autosomal dominant syndrome characterized by overgrowth, advanced
DE   bone age, macrocephaly, impaired intellectual development, behavior
DE   anomalies, and dysmorphic facial features. Patients develop marfanoid
DE   habitus, with long and slender body, very low body mass, long narrow
DE   face, and arachnodactyly.
SY   Malan overgrowth syndrome.
SY   SOTOS2.
SY   Sotos syndrome 2.
DR   MIM; 614753; phenotype.
DR   MedGen; C3553660.
DR   MedGen; CN130953.
DR   MeSH; D058495.
//
ID   Male pseudohermaphrodism with gynecomastia.
AC   DI-01928
AR   MPH.
DE   An autosomal recessive disorder that manifests, in males, as
DE   undermasculinization characterized by hypoplastic-to-normal internal
DE   genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory
DE   ducts) but female external genitalia and the absence of a prostate.
DE   This phenotype is caused by inadequate testicular synthesis of
DE   testosterone, which, in turn, results in insufficient formation of
DE   dihydrotestosterone in the anlage of the external genitalia and
DE   prostate during fetal development. At the expected time of puberty,
DE   there is a marked increase in plasma leuteinizing hormone and,
DE   consequently, in testicular secretion of androstenedione. Hence, a
DE   diagnostic hallmark of this disorder is a decreased plasma
DE   testosterone-to-androstenedione ratio. Significant amounts of the
DE   circulating androstenedione are, however, converted to testosterone,
DE   in peripheral tissues, thereby causing virilization.
SY   17-beta hydroxysteroid dehydrogenase III deficiency.
SY   17-ketosteroid reductase deficiency of testis.
SY   17-KSR deficiency.
SY   Neutral 17-beta-hydroxysteroid oxidoreductase deficiency.
SY   Pseudohermaphroditism, male, with gynecomastia.
DR   MIM; 264300; phenotype.
DR   MedGen; C0268296.
DR   MedGen; C1849695.
DR   MeSH; D058490.
//
ID   Maleylacetoacetate isomerase deficiency.
AC   DI-05047
AR   MAAID.
DE   An autosomal recessive inborn error of metabolism characterized by
DE   mild elevations in succinylacetone in blood and urine, usually
DE   identified by newborn screening. Liver function and coagulation are
DE   normal. MAAID is a benign disorder.
SY   Benign hypersuccinylacetonemia.
SY   BHSA.
SY   Hypersuccinylacetonemia, mild.
SY   MAAI deficiency.
SY   MHSA.
DR   MIM; 617596; phenotype.
DR   MedGen; CN351187.
DR   MeSH; D008661.
//
ID   Malignant hyperthermia 1.
AC   DI-01929
AR   MHS1.
DE   Autosomal dominant pharmacogenetic disorder of skeletal muscle and is
DE   one of the main causes of death due to anesthesia. In susceptible
DE   people, an MH episode can be triggered by all commonly used
DE   inhalational anesthetics such as halothane and by depolarizing muscle
DE   relaxants such as succinylcholine. The clinical features of the
DE   myopathy are hyperthermia, accelerated muscle metabolism,
DE   contractures, metabolic acidosis, tachycardia and death, if not
DE   treated with the postsynaptic muscle relaxant, dantrolene.
DE   Susceptibility to MH can be determined with the 'in vitro' contracture
DE   test (IVCT): observing the magnitude of contractures induced in strips
DE   of muscle tissue by caffeine alone and halothane alone. Patients with
DE   normal response are MH normal (MHN), those with abnormal response to
DE   caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H)
DE   respectively).
SY   Hyperpyrexia, malignant.
SY   Hyperthermia of anesthesia.
SY   MH.
DR   MIM; 145600; phenotype.
DR   MedGen; C0024591.
DR   MedGen; C1840365.
DR   MeSH; D008305.
//
ID   Malignant hyperthermia 5.
AC   DI-01930
AR   MHS5.
DE   Autosomal dominant disorder that is potentially lethal in susceptible
DE   individuals on exposure to commonly used inhalational anesthetics and
DE   depolarizing muscle relaxants.
DR   MIM; 601887; phenotype.
DR   MedGen; C1866077.
DR   MedGen; C2930984.
//
ID   Malonyl-CoA decarboxylase deficiency.
AC   DI-01931
AR   MLYCD deficiency.
DE   Autosomal recessive disease characterized by abdominal pain, chronic
DE   constipation, episodic vomiting, metabolic acidosis and malonic
DE   aciduria.
DR   MIM; 248360; phenotype.
DR   MedGen; C0342793.
//
ID   Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.
AC   DI-03863
AR   MDPL.
DE   An autosomal dominant systemic disorder characterized by prominent
DE   loss of subcutaneous fat, metabolic abnormalities including insulin
DE   resistance and diabetes mellitus, sclerodermatous skin, and a facial
DE   appearance characterized by mandibular hypoplasia. Sensorineural
DE   deafness occurs late in the first or second decades of life.
DR   MIM; 615381; phenotype.
DR   MedGen; C3715192.
DR   MedGen; CN179768.
DR   MeSH; D003638.
DR   MeSH; D008060.
DR   MeSH; D008661.
//
ID   Mandibuloacral dysplasia progeroid syndrome.
AC   DI-05993
AR   MDPS.
DE   A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE   clinical and genetic heterogeneity, characterized by growth
DE   retardation, craniofacial dysmorphic features due to distal bone
DE   resorption, musculoskeletal and skin abnormalities associated with
DE   lipodystrophy. MDPS is an autosomal recessive disorder. Clinical
DE   features include poor growth, osteoporosis, osteopenia, acroosteolysis
DE   of distal phalanges, arterial calcification, renal glomerulosclerosis
DE   and severe hypertension.
DR   MIM; 619127; phenotype.
DR   MedGen; CN293587.
DR   MeSH; D008060.
DR   MeSH; D019588.
DR   MeSH; D030981.
//
ID   Mandibuloacral dysplasia with type A lipodystrophy.
AC   DI-01932
AR   MADA.
DE   A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE   clinical and genetic heterogeneity, characterized by growth
DE   retardation, craniofacial dysmorphic features due to distal bone
DE   resorption, musculoskeletal and skin abnormalities associated with
DE   lipodystrophy. MADA is an autosomal recessive disease characterized by
DE   mandibular and clavicular hypoplasia, acroosteolysis, delayed closure
DE   of the cranial suture, progeroid appearance, partial alopecia, soft
DE   tissue calcinosis, joint contractures, and partial lipodystrophy with
DE   loss of subcutaneous fat from the extremities. Adipose tissue in the
DE   face, neck and trunk is normal or increased.
SY   Craniomandibular dermatodysostosis.
SY   Lipodystrophy type A associated with mandibuloacral dysplasia.
SY   Mandibuloacral dysplasia with type A lipodystrophy atypical.
SY   Tendinous calcinosis arthropathy and progeroid features.
DR   MIM; 248370; phenotype.
DR   MedGen; C0432291.
DR   MedGen; C2673440.
DR   MeSH; D008060.
DR   MeSH; D019588.
DR   MeSH; D030981.
//
ID   Mandibuloacral dysplasia with type B lipodystrophy.
AC   DI-01933
AR   MADB.
DE   A form of mandibuloacral dysplasia, a rare progeroid disorder with
DE   clinical and genetic heterogeneity, characterized by growth
DE   retardation, craniofacial dysmorphic features due to distal bone
DE   resorption, musculoskeletal and skin abnormalities associated with
DE   lipodystrophy. MADB is a disease characterized by mandibular and
DE   clavicular hypoplasia, acroosteolysis, delayed closure of the cranial
DE   suture, joint contractures, and generalized lipodystrophy with loss of
DE   subcutaneous fat from the extremities, face, neck and trunk.
SY   Lipodystrophy type B associated with mandibuloacral dysplasia.
DR   MIM; 608612; phenotype.
DR   MedGen; C1837756.
DR   MeSH; D008060.
DR   MeSH; D019588.
DR   MeSH; D030981.
//
ID   Mandibulofacial dysostosis with alopecia.
AC   DI-04426
AR   MFDA.
DE   A form of mandibulofacial dysostosis, a disorder characterized by
DE   malar and mandibular hypoplasia, typically associated with
DE   abnormalities of the ears and eyelids. MFDA features include maxillary
DE   dysmorphism with dysplastic zygomatic arch, hypoplastic mandible,
DE   scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or
DE   aplasia of eyelids, small cupped dysplastic ears, conductive hearing
DE   loss, cleft palate, dental anomalies, micrognathia, and limited jaw
DE   mobility.
DR   MIM; 616367; phenotype.
DR   MedGen; CN230322.
DR   MeSH; D008342.
KW   KW-1063:Hypotrichosis.
//
ID   Mandibulofacial dysostosis with microcephaly.
AC   DI-03414
AR   MFDM.
DE   A rare syndrome characterized by progressive microcephaly, midface and
DE   malar hypoplasia, micrognathia, microtia, dysplastic ears,
DE   preauricular skin tags, significant developmental delay, and speech
DE   delay. Many patients have major sequelae, including choanal atresia
DE   that results in respiratory difficulties, conductive hearing loss, and
DE   cleft palate.
DR   MIM; 610536; phenotype.
DR   MedGen; C1864652.
DR   MeSH; D008342.
DR   MeSH; D008831.
KW   KW-0991:Intellectual disability.
//
ID   Manitoba oculotrichoanal syndrome.
AC   DI-03215
AR   MOTA.
DE   A rare condition defined by eyelid colobomas, cryptophthalmos, and
DE   anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad
DE   nasal tip, and gastrointestinal anomalies such as omphalocele and anal
DE   stenosis.
SY   Marles syndrome.
DR   MIM; 248450; phenotype.
DR   MedGen; C1855425.
DR   MeSH; D005124.
//
ID   Mannosidosis, alpha B, lysosomal.
AC   DI-01921
AR   MANSA.
DE   A lysosomal storage disease characterized by accumulation of
DE   unbranched oligosaccharide chains. This accumulation is expressed
DE   histologically as cytoplasmic vacuolation predominantly in the CNS and
DE   parenchymatous organs. Depending on the clinical findings at the age
DE   of onset, a severe infantile (type I) and a mild juvenile (type II)
DE   form of alpha-mannosidosis are recognized. There is considerable
DE   variation in the clinical expression with intellectual disability,
DE   recurrent infections, impaired hearing and Hurler-like skeletal
DE   changes being the most consistent abnormalities.
SY   Alpha-mannosidase B deficiency.
SY   Alpha-mannosidosis.
SY   Alpha-mannosidosis types I and II.
SY   Lysosomal alpha-D-mannosidase deficiency.
DR   MIM; 248500; phenotype.
DR   MedGen; C0024748.
DR   MedGen; C1855396.
DR   MeSH; D008363.
//
ID   Mannosidosis, beta A, lysosomal.
AC   DI-01922
AR   MANSB.
DE   An autosomal recessive lysosomal storage disease of glycoprotein
DE   catabolism. Clinical features are heterogeneous with a wide range of
DE   symptoms and age of onset. The disease is associated with a range of
DE   neurological involvement, including various degrees of intellectual
DE   disability in most of the cases, hearing loss and speech impairment,
DE   hypotonia, epilepsy and peripheral neuropathy. Affected individuals
DE   have a profound reduction in beta A mannosidase activity in plasma,
DE   fibroblasts and leukocytes.
SY   Beta-mannosidase deficiency.
SY   Beta-mannosidosis.
SY   Lysosomal beta-mannosidase deficiency.
DR   MIM; 248510; phenotype.
DR   MedGen; C0342849.
DR   MedGen; C2931893.
DR   MeSH; D044905.
//
ID   Maple syrup urine disease.
AC   DI-01934
AR   MSUD.
DE   A metabolic disorder due to an enzyme defect in the catabolic pathway
DE   of the branched-chain amino acids leucine, isoleucine, and valine.
DE   Accumulation of these 3 amino acids and their corresponding keto acids
DE   leads to encephalopathy and progressive neurodegeneration. Clinical
DE   features include mental and physical retardation, feeding problems,
DE   and a maple syrup odor to the urine. The keto acids of the branched-
DE   chain amino acids are present in the urine. If untreated, maple syrup
DE   urine disease can lead to seizures, coma, and death. The disease is
DE   often classified by its pattern of signs and symptoms. The most common
DE   and severe form of the disease is the classic type, which becomes
DE   apparent soon after birth. Variant forms of the disorder become
DE   apparent later in infancy or childhood and are typically milder, but
DE   they still involve developmental delay and other medical problems if
DE   not treated.
SY   BCKD deficiency.
SY   Branched-chain alpha-keto acid dehydrogenase deficiency.
SY   Branched-chain ketoaciduria.
SY   Classic maple syrup urine disease.
SY   Intermediate maple syrup urine disease.
SY   Intermittent maple syrup urine disease.
SY   Keto acid decarboxylase deficiency.
SY   Thiamine-responsive maple syrup urine disease.
DR   MIM; 248600; phenotype.
DR   MedGen; C0024776.
DR   MedGen; C0268568.
DR   MedGen; C0268569.
DR   MedGen; C0751285.
DR   MedGen; C1621920.
DR   MeSH; D008375.
//
ID   Maple syrup urine disease 1A.
AC   DI-01936
AR   MSUD1A.
DE   A metabolic disorder due to an enzyme defect in the catabolic pathway
DE   of the branched-chain amino acids leucine, isoleucine, and valine.
DE   Accumulation of these 3 amino acids and their corresponding keto acids
DE   leads to encephalopathy and progressive neurodegeneration. Clinical
DE   features include mental and physical retardation, feeding problems,
DE   and a maple syrup odor to the urine. The keto acids of the branched-
DE   chain amino acids are present in the urine. If untreated, maple syrup
DE   urine disease can lead to seizures, coma, and death. The disease is
DE   often classified by its pattern of signs and symptoms. The most common
DE   and severe form of the disease is the classic type, which becomes
DE   apparent soon after birth. Variant forms of the disorder become
DE   apparent later in infancy or childhood and are typically milder, but
DE   they still involve developmental delay and other medical problems if
DE   not treated.
SY   Maple syrup urine disease type IA.
SY   MSUD type IA.
DR   MIM; 248600; phenotype.
DR   MedGen; C1855369.
DR   MedGen; CN068546.
DR   MeSH; D008375.
//
ID   Maple syrup urine disease 1B.
AC   DI-01937
AR   MSUD1B.
DE   A metabolic disorder due to an enzyme defect in the catabolic pathway
DE   of the branched-chain amino acids leucine, isoleucine, and valine.
DE   Accumulation of these 3 amino acids and their corresponding keto acids
DE   leads to encephalopathy and progressive neurodegeneration. Clinical
DE   features include mental and physical retardation, feeding problems,
DE   and a maple syrup odor to the urine. The keto acids of the branched-
DE   chain amino acids are present in the urine. If untreated, maple syrup
DE   urine disease can lead to seizures, coma, and death. The disease is
DE   often classified by its pattern of signs and symptoms. The most common
DE   and severe form of the disease is the classic type, which becomes
DE   apparent soon after birth. Variant forms of the disorder become
DE   apparent later in infancy or childhood and are typically milder, but
DE   they still involve developmental delay and other medical problems if
DE   not treated.
SY   Maple syrup urine disease type IB.
SY   MSUD type IB.
DR   MIM; 248600; phenotype.
DR   MedGen; C1855370.
DR   MeSH; D008375.
//
ID   Maple syrup urine disease 2.
AC   DI-01935
AR   MSUD2.
DE   A metabolic disorder due to an enzyme defect in the catabolic pathway
DE   of the branched-chain amino acids leucine, isoleucine, and valine.
DE   Accumulation of these 3 amino acids and their corresponding keto acids
DE   leads to encephalopathy and progressive neurodegeneration. Clinical
DE   features include mental and physical retardation, feeding problems,
DE   and a maple syrup odor to the urine. The keto acids of the branched-
DE   chain amino acids are present in the urine. If untreated, maple syrup
DE   urine disease can lead to seizures, coma, and death. The disease is
DE   often classified by its pattern of signs and symptoms. The most common
DE   and severe form of the disease is the classic type, which becomes
DE   apparent soon after birth. Variant forms of the disorder become
DE   apparent later in infancy or childhood and are typically milder, but
DE   they still involve developmental delay and other medical problems if
DE   not treated.
SY   Maple syrup urine disease type II.
SY   MSUD type II.
DR   MIM; 248600; phenotype.
DR   MedGen; C1855371.
DR   MedGen; CN069615.
DR   MeSH; D008375.
//
ID   Maple syrup urine disease, mild variant.
AC   DI-03756
AR   MSUDMV.
DE   A mild form of maple syrup urine disease, a metabolic disorder due to
DE   an enzyme defect in the catabolic pathway of the branched-chain amino
DE   acids leucine, isoleucine, and valine. Accumulation of these 3 amino
DE   acids and their corresponding keto acids leads to encephalopathy and
DE   progressive neurodegeneration. Clinical features include mental and
DE   physical retardation, feeding problems, and a maple syrup odor to the
DE   urine. The keto acids of the branched-chain amino acids are present in
DE   the urine. If untreated, maple syrup urine disease can lead to
DE   seizures, coma, and death. The disease is often classified by its
DE   pattern of signs and symptoms. The most common and severe form of the
DE   disease is the classic type, which becomes apparent soon after birth.
DE   Variant forms of the disorder become apparent later in infancy or
DE   childhood and are typically milder, but they still involve
DE   developmental delay and other medical problems if not treated. MSUDMV
DE   is characterized by increased plasma levels of branched-chain amino
DE   acids (BCAA) apparent at birth. Treatment with a low-protein diet free
DE   of BCAA can result in normal psychomotor development and lack of
DE   metabolic episodes.
DR   MIM; 615135; phenotype.
DR   MedGen; C3554575.
DR   MedGen; CN168515.
DR   MeSH; D008375.
//
ID   Marbach-Rustad progeroid syndrome.
AC   DI-06107
AR   MARUPS.
DE   An autosomal dominant syndrome characterized by progeria-like
DE   appearance with little subcutaneous fat and triangular facies, growth
DE   retardation, short stature, hypoplastic mandible crowded with
DE   unerupted supernumerary teeth, and cerebellar intention tremor.
DR   MIM; 619322; phenotype.
DR   MedGen; CN296744.
DR   MeSH; D019588.
//
ID   Marbach-Schaaf neurodevelopmental syndrome.
AC   DI-06296
AR   MASNS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, speech delay, behavioral abnormalities,
DE   hypotonia, and movement disorders including dyspraxia, apraxia, and
DE   clumsiness. More variable features include high pain tolerance, sleep
DE   disturbances, and variable non-specific dysmorphic features.
DR   MIM; 619680; phenotype.
DR   MedGen; CN305324.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Marden-Walker syndrome.
AC   DI-04140
AR   MWKS.
DE   A syndrome characterized by a mask-like face with blepharophimosis,
DE   micrognathia, cleft or high-arched palate, low-set ears, congenital
DE   joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and
DE   arachnodactyly. Additional features include decreased muscular mass,
DE   failure to thrive, renal anomalies, hypoplastic corpus callosum,
DE   cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor
DE   retardation.
SY   MWS.
DR   MIM; 248700; phenotype.
DR   MedGen; C0796033.
DR   MeSH; D003240.
DR   MeSH; D016569.
DR   MeSH; D054119.
//
ID   Marfan syndrome.
AC   DI-00699
AR   MFS.
DE   A hereditary disorder of connective tissue that affects the skeletal,
DE   ocular, and cardiovascular systems. A wide variety of skeletal
DE   abnormalities occurs with Marfan syndrome, including scoliosis, chest
DE   wall deformity, tall stature, abnormal joint mobility. Ectopia lentis
DE   occurs in most of the patients and is almost always bilateral. The
DE   leading cause of premature death is progressive dilation of the aortic
DE   root and ascending aorta, causing aortic incompetence and dissection.
DE   Neonatal Marfan syndrome is the most severe form resulting in death
DE   from cardiorespiratory failure in the first few years of life.
SY   Marfan syndrome type 1.
SY   MFS1.
DR   MIM; 154700; phenotype.
DR   MedGen; C0024796.
DR   MeSH; D008382.
KW   KW-0993:Aortic aneurysm.
//
ID   Marfanoid-progeroid-lipodystrophy syndrome.
AC   DI-04689
AR   MFLS.
DE   An autosomal dominant syndrome characterized by congenital
DE   lipodystrophy, a progeroid facial appearance due to lack of
DE   subcutaneous fat, and variable signs of Marfan syndrome. Clinical
DE   features include premature birth with an accelerated linear growth
DE   disproportionate to the weight gain, ectopia lentis, aortic
DE   dilatation, dural ectasia, and arachnodactyly. Mental and motor
DE   development are within normal limits.
SY   Marfan lipodystrophy syndrome.
SY   Marfanoid-progeroid syndrome.
SY   Marfan-progeroid-lipodystrophy syndrome.
DR   MIM; 616914; phenotype.
DR   MedGen; C4310796.
DR   MeSH; D008060.
DR   MeSH; D008382.
//
ID   Marinesco-Sjoegren syndrome.
AC   DI-01938
AR   MSS.
DE   Autosomal recessive multisystem disorder which is characterized by
DE   cerebellar ataxia due to cerebellar atrophy, with Purkinje and granule
DE   cell loss and myopathy featuring marked muscle replacement with fat
DE   and connective tissue. Other cardinal features include bilateral
DE   cataracts, hypergonadotrophic hypogonadism and mild to severe
DE   intellectual disability. Skeletal abnormalities, short stature,
DE   dysarthria, strabismus and nystagmus are also frequent findings.
DE   Mutational inactivation of this protein may result in ER stress-
DE   induced cell death signaling or malfunctioning chaperone machineries
DE   that mishandle client proteins which are critical for the organs
DE   targeted in MSS.
DR   MIM; 248800; phenotype.
DR   MedGen; C0024814.
//
ID   Marshall syndrome.
AC   DI-01939
AR   MRSHS.
DE   An autosomal dominant disorder characterized by ocular abnormalities,
DE   deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia.
DE   Clinical features include short stature; flat or retruded midface with
DE   short, depressed nose, flat nasal bridge and anteverted nares; cleft
DE   palate with or without the Pierre Robin sequence; appearance of large
DE   eyes with ocular hypertelorism; cataracts, either congenital or
DE   juvenile; esotropia; high myopia; sensorineural hearing loss;
DE   spondyloepiphyseal abnormalities; calcification of the falx cerebri;
DE   ectodermal abnormalities, including defects in sweating and dental
DE   structures.
DR   MIM; 154780; phenotype.
DR   MedGen; C0265235.
DR   MeSH; D002386.
DR   MeSH; D004476.
DR   MeSH; D006319.
DR   MeSH; D009216.
DR   MeSH; D019465.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
//
ID   Marshall-Smith syndrome.
AC   DI-03505
AR   MRSHSS.
DE   A distinct malformation syndrome characterized by accelerated skeletal
DE   maturation, relative failure to thrive, respiratory difficulties,
DE   intellectual disability, and unusual facies, including prominent
DE   forehead, shallow orbits, blue sclerae, depressed nasal bridge, and
DE   micrognathia. Additional skeletal findings include long and thin
DE   tubular bones, broad middle phalanges with relatively narrow distal
DE   phalanges, and scoliosis. Inheritance is autosomal dominant.
SY   MSS.
DR   MIM; 602535; phenotype.
DR   MedGen; C0265211.
DR   MeSH; D001848.
DR   MeSH; D019465.
//
ID   Marsili syndrome.
AC   DI-05171
AR   MARSIS.
DE   An autosomal dominant disorder characterized by congenital pain
DE   insensitivity. Painless cutaneous thermal burns and bone fractures are
DE   present in affected individuals. Corneal reflex is absent, sweating is
DE   decreased or absent. Patients have normal cognitive abilities, and
DE   display no evidence of distal weakness.
SY   Congenital analgesia, autosomal dominant.
SY   Insensitivity to pain, congenital, autosomal dominant.
DR   MIM; 147430; phenotype.
DR   MedGen; C1840219.
DR   MeSH; D000699.
//
ID   Martin-Probst syndrome.
AC   DI-03524
AR   MRXSMP.
DE   A rare neurodevelopmental disorder characterized by intellectual
DE   disability, sensorineural hearing loss, short stature and craniofacial
DE   dysmorphisms. Patients also exhibit abnormal teeth, widely spaced
DE   nipples, abnormal dermatoglyphics, renal insufficiency, and impaired
DE   haematopoiesis.
DR   MIM; 300519; phenotype.
DR   MedGen; C1845285.
DR   MeSH; D038901.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Martsolf syndrome 1.
AC   DI-01940
AR   MARTS1.
DE   An autosomal recessive disease characterized by congenital cataracts,
DE   intellectual disability, and hypogonadism.
SY   MARTS.
SY   Martsolf syndrome.
DR   MIM; 212720; phenotype.
DR   MedGen; C0796037.
DR   MeSH; D002386.
DR   MeSH; D007006.
DR   MeSH; D008607.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Martsolf syndrome 2.
AC   DI-06162
AR   MARTS2.
DE   An autosomal recessive disorder characterized by congenital cataracts,
DE   mildly to severely impaired intellectual development, and facial
DE   dysmorphism. Other features include brain malformations, microcephaly,
DE   and hypogonadism-hypogenitalism.
DR   MIM; 619420; phenotype.
DR   MedGen; CN299633.
DR   MeSH; D002386.
DR   MeSH; D007006.
DR   MeSH; D008607.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   MASA syndrome.
AC   DI-00707
AR   MASA.
DE   An X-linked recessive syndrome with a highly variable clinical
DE   spectrum. Main clinical features include spasticity and hyperreflexia
DE   of lower limbs, shuffling gait, intellectual disability, aphasia and
DE   adducted thumbs. The features of spasticity have been referred to as
DE   complicated spastic paraplegia type 1 (SPG1). Some patients manifest
DE   corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial
DE   variability is very wide, such that patients with hydrocephalus, MASA,
DE   SPG1, and agenesis of corpus callosum can be present within the same
DE   family.
SY   Corpus callosum hypoplasia-psychomotor retardation, adducted thumbs-spastic paraparesis-hydrocephalus.
SY   CRASH.
DR   MIM; 303350; phenotype.
DR   MedGen; C0795953.
DR   MeSH; D008607.
DR   MeSH; D010264.
KW   KW-0890:Hereditary spastic paraplegia.
KW   KW-0991:Intellectual disability.
//
ID   MASP2 deficiency.
AC   DI-03105
AR   MASPD.
DE   A disorder that results in autoimmune manifestations, recurrent severe
DE   infections, and chronic inflammatory disease.
SY   Defect in lectin complement activation pathway, 2.
SY   LCAPD2.
DR   MIM; 613791; phenotype.
DR   MedGen; C3151085.
DR   MeSH; D007154.
//
ID   Mastocytosis, cutaneous.
AC   DI-05277
AR   MASTC.
DE   A form of mastocytosis, a heterogeneous group of disorders associated
DE   with abnormal proliferation and accumulation of mast cells in various
DE   tissues, especially in the skin and hematopoietic organs. MASTC is an
DE   autosomal dominant form characterized by macules, papules, nodules, or
DE   diffuse infiltration of the skin, often associated with localized
DE   hyperpigmentation. Gentle rubbing of the lesions induces histamine
DE   release from mechanically activated mast cells, causing local wheals,
DE   erythema, and often pruritus, a phenomenon termed Darier sign.
SY   Mastocytosis, diffuse cutaneous.
SY   Mastocytosis, maculopapular cutaneous.
SY   Urticaria pigmentosa.
DR   MIM; 154800; phenotype.
DR   MedGen; C0024899.
DR   MedGen; C0042111.
DR   MeSH; D014582.
//
ID   Mastocytosis, systemic.
AC   DI-05278
AR   MASTSYS.
DE   A severe form of mastocytosis characterized by abnormal proliferation
DE   and accumulation of mast cells in several organs, resulting in a
DE   systemic disease that may affect bone, gastrointestinal tract,
DE   lymphatics, spleen, and liver. In some cases, it is associated with a
DE   clonal hematologic non-mast-cell lineage disease, such as a
DE   myelodysplastic or myeloproliferative disorder. It can also lead to
DE   mast cell leukemia, which carries a high risk of mortality.
SY   Mast cell disease.
SY   Mast-cell disease.
SY   Mast cell leukemia.
SY   Mastocytosis, indolent.
SY   Mastocytosis with associated hematologic disorder.
DR   MIM; 154800; phenotype.
DR   MedGen; C0024899.
DR   MeSH; D008415.
//
ID   Maternal acute fatty liver of pregnancy.
AC   DI-01942
AR   AFLP.
DE   Severe maternal illness occurring during pregnancies with affected
DE   fetuses. This disease is associated with LCHAD deficiency and
DE   characterized by sudden unexplained infant death or hypoglycemia and
DE   abnormal liver enzymes (Reye-like syndrome).
DR   MIM; 609016; phenotype.
//
ID   Maturity-onset diabetes of the young 1.
AC   DI-01943
AR   MODY1.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   Mild juvenile diabetes mellitus.
SY   MODY-1.
SY   MODY type 1.
DR   MIM; 125850; phenotype.
DR   MedGen; C1852093.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 10.
AC   DI-02786
AR   MODY10.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-10.
SY   MODY type 10.
DR   MIM; 613370; phenotype.
DR   MedGen; C3150617.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 11.
AC   DI-02787
AR   MODY11.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-11.
SY   MODY type 11.
DR   MIM; 613375; phenotype.
DR   MedGen; C3150618.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 13.
AC   DI-04404
AR   MODY13.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   Maturity-onset diabetes of the young, type 13.
SY   MODY type 13.
DR   MIM; 616329; phenotype.
DR   MedGen; CN229628.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 14.
AC   DI-04501
AR   MODY14.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   Maturity-onset diabetes of the young, type 14.
DR   MIM; 616511; phenotype.
DR   MedGen; CN232143.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 2.
AC   DI-01944
AR   MODY2.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-2.
SY   MODY glucokinase-related.
SY   MODY type 2.
DR   MIM; 125851; phenotype.
DR   MedGen; C0085207.
DR   MedGen; C1841962.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 3.
AC   DI-01945
AR   MODY3.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-3.
SY   MODY type 3.
DR   MIM; 600496; phenotype.
DR   MedGen; C1838100.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 4.
AC   DI-01946
AR   MODY4.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-4.
SY   MODY type 4.
DR   MIM; 606392; phenotype.
DR   MedGen; C1833382.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 6.
AC   DI-01947
AR   MODY6.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-6.
SY   MODY type 6.
DR   MIM; 606394; phenotype.
DR   MedGen; C1853371.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 7.
AC   DI-01948
AR   MODY7.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-7.
SY   MODY type 7.
DR   MIM; 610508; phenotype.
DR   MedGen; C1864839.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 8 with exocrine dysfunction.
AC   DI-01949
AR   MODY8.
DE   An autosomal dominant form of diabetes characterized by a primary
DE   defect in insulin secretion, exocrine pancreatic dysfunction, altered
DE   pancreatic morphology, recurrent abdominal pain, and fecal elastase
DE   deficiency. Disease onset is at less than 25 years of age.
SY   Diabetes and pancreatic exocrine dysfunction syndrome.
SY   DPED.
SY   MODY-8.
SY   MODY type 8.
DR   MIM; 609812; phenotype.
DR   MedGen; C1853297.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Maturity-onset diabetes of the young 9.
AC   DI-01950
AR   MODY9.
DE   A form of diabetes that is characterized by an autosomal dominant mode
DE   of inheritance, onset in childhood or early adulthood (usually before
DE   25 years of age), a primary defect in insulin secretion and frequent
DE   insulin-independence at the beginning of the disease.
SY   MODY-9.
SY   MODY type 9.
DR   MIM; 612225; phenotype.
DR   MedGen; C2677132.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   McCune-Albright syndrome.
AC   DI-01952
AR   MAS.
DE   Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions,
DE   and a variety of endocrine disorders, including precocious puberty,
DE   hyperthyroidism, hypercortisolism, growth hormone excess, and
DE   hyperprolactinemia. The mutations producing MAS lead to constitutive
DE   activation of GS alpha.
DR   MIM; 174800; phenotype.
DR   MedGen; C0016065.
DR   MedGen; C0242292.
//
ID   McKusick-Kaufman syndrome.
AC   DI-01953
AR   MKKS.
DE   Autosomal recessive developmental disorder. It is characterized by
DE   hydrometrocolpos, postaxial polydactyly and congenital heart defects.
DR   MIM; 236700; phenotype.
DR   MedGen; C0948368.
//
ID   McLeod syndrome.
AC   DI-01954
AR   MLS.
DE   A multisystem disorder characterized by the absence of red blood cell
DE   Kx antigen, weak expression of Kell red blood cell antigens,
DE   acanthocytosis, and compensated hemolysis. Most carriers of this
DE   McLeod blood group phenotype have acanthocytosis and elevated serum
DE   creatine kinase levels and are prone to develop a severe neurologic
DE   disorder resembling Huntington disease. Additional symptoms include
DE   generalized seizures, neuromuscular symptoms leading to weakness and
DE   atrophy, and cardiomyopathy mainly manifesting with atrial
DE   fibrillation, malignant arrhythmias, and dilated cardiomyopathy.
SY   McLeod phenotype.
SY   McLeod syndrome with chronic granulomatous disease.
SY   Neuroacanthocytosis McLeod type.
DR   MIM; 300842; phenotype.
DR   MedGen; C3151853.
DR   MedGen; CN069344.
DR   MeSH; D054546.
//
ID   Meacham syndrome.
AC   DI-01955
AR   MEACHS.
DE   Rare sporadically occurring multiple malformation syndrome
DE   characterized by male pseudohermaphroditism with abnormal internal
DE   female genitalia comprising a uterus and double or septate vagina,
DE   complex congenital heart defect and diaphragmatic abnormalities.
DR   MIM; 608978; phenotype.
DR   MedGen; C1837026.
//
ID   Meckel syndrome 1.
AC   DI-00700
AR   MKS1.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
SY   Dysencephalia splanchnocystica.
SY   Gruber syndrome.
SY   Meckel-Gruber syndrome.
SY   MES.
DR   MIM; 249000; phenotype.
DR   MedGen; C0265215.
DR   MedGen; CN077329.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 10.
AC   DI-03233
AR   MKS10.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 614175; phenotype.
DR   MedGen; C3280036.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 11.
AC   DI-03873
AR   MKS11.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 615397; phenotype.
DR   MedGen; C3809352.
DR   MedGen; CN179854.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 12.
AC   DI-04349
AR   MKS12.
DE   A form of Meckel syndrome, a disorder characterized by a combination
DE   of renal cysts and variably associated features including
DE   developmental anomalies of the central nervous system (typically
DE   encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
DR   MIM; 616258; phenotype.
DR   MedGen; CN228389.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 13.
AC   DI-05035
AR   MKS13.
DE   A form of Meckel syndrome, a disorder characterized by a combination
DE   of renal cysts and variably associated features including
DE   developmental anomalies of the central nervous system (typically
DE   encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
DR   MIM; 617562; phenotype.
DR   MedGen; CN317534.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 14.
AC   DI-06429
AR   MKS14.
DE   A form of Meckel syndrome, an autosomal recessive disorder
DE   characterized by a combination of renal cysts and variably associated
DE   features including developmental anomalies of the central nervous
DE   system (typically encephalocele), hepatic ductal dysplasia and cysts,
DE   and polydactyly. Death occurs in the prenatal or perinatal period.
DR   MIM; 619879; phenotype.
DR   MedGen; CN312037.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 2.
AC   DI-02862
AR   MKS2.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 603194; phenotype.
DR   MedGen; C1864148.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 3.
AC   DI-00701
AR   MKS3.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 607361; phenotype.
DR   MedGen; C1846357.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 4.
AC   DI-00702
AR   MKS4.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 611134; phenotype.
DR   MedGen; C1970161.
DR   MedGen; C1970162.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 5.
AC   DI-00703
AR   MKS5.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 611561; phenotype.
DR   MedGen; C1969052.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 6.
AC   DI-00704
AR   MKS6.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 612284; phenotype.
DR   MedGen; C2676790.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 7.
AC   DI-02861
AR   MKS7.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 267010; phenotype.
DR   MedGen; C2673885.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 8.
AC   DI-03026
AR   MKS8.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 613885; phenotype.
DR   MedGen; CN077711.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meckel syndrome 9.
AC   DI-03221
AR   MKS9.
DE   A disorder characterized by a combination of renal cysts and variably
DE   associated features including developmental anomalies of the central
DE   nervous system (typically encephalocele), hepatic ductal dysplasia and
DE   cysts, and polydactyly.
DR   MIM; 614209; phenotype.
DR   MedGen; C3280155.
DR   MeSH; D002925.
DR   MeSH; D004677.
DR   MeSH; D007690.
KW   KW-0981:Meckel syndrome.
//
ID   Meconium ileus.
AC   DI-03452
AR   MECIL.
DE   A condition characterized by intestinal obstruction due to inspissated
DE   meconium in the distal ileum and cecum, which develops in utero and
DE   presents shortly after birth as a failure to pass meconium. Meconium
DE   ileus is a known clinical manifestation of cystic fibrosis.
DR   MIM; 614665; phenotype.
DR   MedGen; C0270246.
DR   MedGen; C2939175.
DR   MeSH; D045823.
//
ID   MEDNIK syndrome.
AC   DI-03642
AR   MEDNIK.
DE   A disorder characterized by erythematous skin lesions and
DE   hyperkeratosis, severe psychomotor retardation, peripheral neuropathy,
DE   sensorineural hearing loss, together with elevated very-long-chain
DE   fatty acids and severe congenital diarrhea.
SY   EKV3.
SY   Erythrokeratodermia variabilis 3.
SY   Erythrokeratodermia variabilis Kamouraska type.
SY   Impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.
DR   MIM; 609313; phenotype.
DR   MedGen; C1836330.
DR   MeSH; D007057.
DR   MeSH; D008607.
DR   MeSH; D020752.
DR   MeSH; D056266.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
KW   KW-0977:Ichthyosis.
KW   KW-0991:Intellectual disability.
//
ID   Medullary thyroid carcinoma.
AC   DI-01957
AR   MTC.
DE   Rare tumor derived from the C cells of the thyroid. Three hereditary
DE   forms are known, that are transmitted in an autosomal dominant
DE   fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple
DE   neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs
DE   in 25-30% of MTC cases and where MTC is the only clinical
DE   manifestation.
DR   MIM; 155240; phenotype.
DR   MedGen; C1833921.
//
ID   Medulloblastoma.
AC   DI-01958
AR   MDB.
DE   Malignant, invasive embryonal tumor of the cerebellum with a
DE   preferential manifestation in children.
DR   MIM; 155255; phenotype.
DR   MedGen; C0025149.
DR   MedGen; C0751291.
DR   MedGen; C1334970.
//
ID   Meester-Loeys syndrome.
AC   DI-04917
AR   MRLS.
DE   An X-linked, thoracic aortic aneurysm syndrome characterized by early-
DE   onset, severe aortic aneurysm and dissection. Other recurrent findings
DE   include hypertelorism, pectus deformity, joint hypermobility,
DE   contractures, and mild skeletal dysplasia.
DR   MIM; 300989; phenotype.
DR   MedGen; CN239566.
DR   MeSH; D017545.
KW   KW-0993:Aortic aneurysm.
//
ID   Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations.
AC   DI-05456
AR   MCCCHCM.
DE   An autosomal dominant neurodevelopmental disorder with onset in
DE   infancy. MCCCHCM is characterized by global developmental delay,
DE   impaired intellectual development, poor or absent speech, unsteady
DE   gait, ataxia, inability to walk, and variable brain abnormalities.
DE   Seizures and autistic features are observed in some patients. Brain
DE   imaging findings include an enlarged corpus callosum in the absence of
DE   megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral
DE   abnormalities, and cortical malformations.
DR   MIM; 618273; phenotype.
DR   MedGen; CN258070.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Megabladder, congenital.
AC   DI-05721
AR   MGBL.
DE   An autosomal dominant congenital anomaly characterized by a massively
DE   dilated urinary bladder with disrupted smooth muscle in the bladder
DE   wall. MGBL is a sex-limited trait with 95% male predominance, and
DE   incomplete penetrance. Affected males frequently die in utero.
DR   MIM; 618719; phenotype.
DR   MedGen; CN263070.
DR   MeSH; D014564.
//
ID   Megacystis-microcolon-intestinal hypoperistalsis syndrome.
AC   DI-05709
AR   MMIHS.
DE   A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE   congenital visceral myopathy primarily affecting females, and
DE   characterized by loss of smooth muscle contraction in the bladder and
DE   intestine. Affected individuals present at birth with functional
DE   obstruction of intestine, microcolon, dilation of bladder, and
DE   secondary hydronephrosis. The majority of cases have a fatal outcome
DE   due to malnutrition and sepsis, followed by multiorgan failure. MMIHS
DE   inheritance is autosomal recessive.
SY   Berdon syndrome.
SY   Visceral myopathy.
DR   MIM; 249210; phenotype.
DR   MedGen; CN969967.
DR   MeSH; D007418.
//
ID   Megacystis-microcolon-intestinal hypoperistalsis syndrome 2.
AC   DI-06120
AR   MMIHS2.
DE   A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE   congenital visceral myopathy primarily affecting females, and
DE   characterized by loss of smooth muscle contraction in the bladder and
DE   intestine. Affected individuals present at birth with functional
DE   obstruction of intestine, microcolon, dilation of bladder, and
DE   secondary hydronephrosis. The majority of cases have a fatal outcome
DE   due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2
DE   inheritance is autosomal recessive.
DR   MIM; 619351; phenotype.
DR   MedGen; CN296894.
DR   MeSH; D007418.
//
ID   Megacystis-microcolon-intestinal hypoperistalsis syndrome 3.
AC   DI-06129
AR   MMIHS3.
DE   A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE   congenital visceral myopathy primarily affecting females, and
DE   characterized by loss of smooth muscle contraction in the bladder and
DE   intestine. Affected individuals present at birth with functional
DE   obstruction of intestine, microcolon, dilation of bladder, and
DE   secondary hydronephrosis. The majority of cases have a fatal outcome
DE   due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3
DE   inheritance is autosomal recessive.
DR   MIM; 619362; phenotype.
DR   MedGen; CN296939.
DR   MeSH; D007418.
//
ID   Megacystis-microcolon-intestinal hypoperistalsis syndrome 4.
AC   DI-06130
AR   MMIHS4.
DE   A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE   congenital visceral myopathy primarily affecting females, and
DE   characterized by loss of smooth muscle contraction in the bladder and
DE   intestine. Affected individuals present at birth with functional
DE   obstruction of intestine, microcolon, dilation of bladder, and
DE   secondary hydronephrosis. The majority of cases have a fatal outcome
DE   due to malnutrition and sepsis, followed by multiorgan failure. MMIHS4
DE   inheritance is autosomal recessive.
DR   MIM; 619365; phenotype.
DR   MedGen; CN297340.
DR   MeSH; D007418.
//
ID   Megacystis-microcolon-intestinal hypoperistalsis syndrome 5.
AC   DI-06166
AR   MMIHS5.
DE   A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a
DE   congenital visceral myopathy primarily affecting females, and
DE   characterized by loss of smooth muscle contraction in the bladder and
DE   intestine. Affected individuals present at birth with functional
DE   obstruction of intestine, microcolon, dilation of bladder, and
DE   secondary hydronephrosis. The majority of cases have a fatal outcome
DE   due to malnutrition and sepsis, followed by multiorgan failure. MMIHS5
DE   is an autosomal dominant form with significant inter- and
DE   intrafamilial variability.
DR   MIM; 619431; phenotype.
DR   MedGen; CN299793.
DR   MeSH; D007418.
//
ID   Megalencephalic leukoencephalopathy with subcortical cysts 1.
AC   DI-01960
AR   MLC1.
DE   A syndrome of cerebral leukoencephalopathy and megalencephaly
DE   characterized by ataxia, spasticity, seizures, delay in motor
DE   development and mild intellectual disability. The brain appears
DE   swollen on magnetic resonance imaging, with diffuse white-matter
DE   abnormalities and the invariable presence of subcortical cysts in
DE   frontal and temporal lobes.
SY   Leukoencephalopathy with swelling and cysts.
SY   LVM.
SY   Vacuolating megalencephalic leukoencephalopathy with subcortical cysts.
SY   Van der Knaap disease.
SY   VL.
DR   MIM; 604004; phenotype.
DR   MedGen; C1858854.
DR   MeSH; D056784.
//
ID   Megalencephalic leukoencephalopathy with subcortical cysts 2A.
AC   DI-03113
AR   MLC2A.
DE   A neurodegenerative disorder characterized by infantile-onset
DE   macrocephaly and later onset of motor deterioration, with ataxia and
DE   spasticity, seizures, and cognitive decline of variable severity. The
DE   brain appears swollen on magnetic resonance imaging with white-matter
DE   abnormalities and subcortical cysts, in all stages of the disease.
DR   MIM; 613925; phenotype.
DR   MedGen; C3151355.
DR   MeSH; D056784.
//
ID   Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development.
AC   DI-03114
AR   MLC2B.
DE   A neurodegenerative disorder characterized by infantile-onset of
DE   macrocephaly and mildly delayed motor development associated with
DE   white-matter abnormalities on brain magnetic resonance imaging. The
DE   phenotype is milder that MLC2A, with better preserved cerebellar white
DE   matter and no subcortical cysts outside the temporal region. On
DE   follow-up, patients show normal or almost normal motor function. Some
DE   patients have normal intelligence, whereas others have a significant
DE   cognitive deficiency.
SY   Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B.
DR   MIM; 613926; phenotype.
DR   MedGen; C3151356.
DR   MeSH; D056784.
//
ID   Megalencephalic leukoencephalopathy with subcortical cysts 3.
AC   DI-06722
AR   MLC3.
DE   An autosomal dominant disorder characterized by increased head
DE   circumference apparent in infancy, followed by progressive motor and
DE   cognitive decline in early childhood. Affected individuals either do
DE   not achieve walking or lose independent ambulation in the first or
DE   second decades. Cognitive impairment is variable and accompanied by
DE   poor speech and dysarthria. Most patients have early-onset seizures,
DE   which may be mild or refractory. Brain imaging shows unremitting
DE   megalencephalic leukoencephalopathy with subcortical cysts and
DE   swelling of the cerebral white matter.
DR   MIM; 620447; phenotype.
DR   MedGen; CN372365.
DR   MeSH; D056784.
//
ID   Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting.
AC   DI-06723
AR   MLC4.
DE   An autosomal recessive disorder characterized by macrocephaly apparent
DE   in infancy, developmental delay, delayed walking, variable cognitive
DE   decline, behavioral abnormalities, and early-onset seizures. Brain
DE   imaging shows swelling of the cerebral white matter and subcortical
DE   cysts in the anterior temporal region. The severity of neurologic
DE   dysfunction and brain abnormalities tends to improve with time,
DE   indicating a remitting disease course.
DR   MIM; 620448; phenotype.
DR   MedGen; CN372366.
DR   MeSH; D056784.
//
ID   Megalencephaly-capillary malformation-polymicrogyria syndrome.
AC   DI-03624
AR   MCAP.
DE   A syndrome characterized by a spectrum of anomalies including primary
DE   megalencephaly, prenatal overgrowth, brain and body asymmetry,
DE   cutaneous vascular malformations, digital anomalies consisting of
DE   syndactyly with or without postaxial polydactyly, connective tissue
DE   dysplasia involving the skin, subcutaneous tissue, and joints, and
DE   cortical brain malformations, most distinctively polymicrogyria.
SY   Macrocephaly-capillary malformation.
SY   Macrocephaly-cutis marmorata telangiectatica congenita.
SY   MCM.
SY   MCMTC.
SY   Megalencephaly-capillary malformation syndrome.
SY   Megalencephaly-cutis marmorata telangiectatica congenita.
DR   MIM; 602501; phenotype.
DR   MedGen; C1865285.
DR   MeSH; D013684.
DR   MeSH; D017445.
DR   MeSH; D058627.
//
ID   Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.
AC   DI-03625
AR   MPPH1.
DE   A syndrome characterized by megalencephaly, hydrocephalus, and
DE   polymicrogyria; polydactyly may also be seen. There is considerable
DE   phenotypic similarity between this disorder and the megalencephaly-
DE   capillary malformation syndrome.
SY   Megalencephaly mega corpus callosum and complete lack of motor development.
SY   Megalencephaly-polymicrogyria-mega corpus callosum syndrome.
SY   Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
SY   MEG-PMG-MEGACC syndrome.
SY   MPPH.
DR   MIM; 603387; phenotype.
DR   MedGen; C1863924.
DR   MeSH; D006849.
DR   MeSH; D017689.
DR   MeSH; D054220.
DR   MeSH; D058627.
//
ID   Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2.
AC   DI-04183
AR   MPPH2.
DE   A syndrome characterized by megalencephaly, hydrocephalus, and
DE   polymicrogyria; polydactyly may also be seen. There is considerable
DE   phenotypic similarity between this disorder and the megalencephaly-
DE   capillary malformation syndrome.
DR   MIM; 615937; phenotype.
DR   MedGen; CN207693.
DR   MeSH; D006849.
DR   MeSH; D017689.
DR   MeSH; D054220.
DR   MeSH; D058627.
//
ID   Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3.
AC   DI-04184
AR   MPPH3.
DE   A syndrome characterized by megalencephaly, ventriculomegaly that may
DE   lead to hydrocephalus, and polymicrogyria; polydactyly may also be
DE   seen. There is considerable phenotypic similarity between this
DE   disorder and the megalencephaly-capillary malformation syndrome.
DR   MIM; 615938; phenotype.
DR   MedGen; CN207694.
DR   MeSH; D006849.
DR   MeSH; D017689.
DR   MeSH; D054220.
DR   MeSH; D058627.
//
ID   Megaloblastic anemia due to dihydrofolate reductase deficiency.
AC   DI-03110
AR   DHFRD.
DE   An inborn error of metabolism, characterized by megaloblastic anemia
DE   and/or pancytopenia, severe cerebral folate deficiency, and cerebral
DE   tetrahydrobiopterin deficiency. Clinical features include variable
DE   neurologic symptoms, ranging from severe developmental delay and
DE   generalized seizures in infancy, to childhood absence epilepsy with
DE   learning difficulties, to lack of symptoms.
SY   DHFR deficiency.
DR   MIM; 613839; phenotype.
DR   MedGen; C3151205.
DR   MeSH; D000749.
DR   MeSH; D008661.
//
ID   Megaloblastic anemia, folate-responsive.
AC   DI-06089
AR   MEGAF.
DE   An autosomal recessive metabolic disorder characterized by
DE   megaloblastic anemia resulting from decreased folate transport into
DE   erythrocytes. Disease manifestations include hemolytic anemia,
DE   hyperhomocysteinemia, and low vitamin B12. Serum folate levels are
DE   normal, but erythrocyte folate levels are decreased. Treatment with
DE   oral folate corrects the anemia and normalizes homocysteine.
SY   Folate level in erythrocytes.
DR   MIM; 601775; phenotype.
DR   MedGen; C1866295.
DR   MeSH; D000749.
DR   MeSH; D008661.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Megalocornea 1, X-linked.
AC   DI-03435
AR   MGC1.
DE   An eye disorder in which the corneal diameter is bilaterally enlarged
DE   (greater than 13 mm) without an increase in intraocular pressure. It
DE   may also be referred to as anterior megalophthalmos, since the entire
DE   anterior segment is larger than normal. Features of megalocornea in
DE   addition to a deep anterior chamber include astigmatic refractive
DE   errors, atrophy of the iris stroma, miosis secondary to decreased
DE   function of the dilator muscle, iridodonesis, and tremulousness,
DE   subluxation, or dislocation of the lens. Whereas most affected
DE   individuals exhibit normal ocular function, complications include
DE   cataract development and glaucoma following lenticular dislocation or
DE   subluxation.
SY   Megalocornea.
SY   MGCN.
DR   MIM; 309300; phenotype.
DR   MedGen; C0344530.
DR   MeSH; D003316.
//
ID   MEHMO syndrome.
AC   DI-05173
AR   MEHMO.
DE   An X-linked recessive syndrome characterized by intellectual
DE   disability, epileptic seizures, hypogonadism and hypogenitalism,
DE   microcephaly, and obesity.
SY   MRXS20.
SY   MRXS25.
SY   MRXSBRK.
DR   MIM; 300148; phenotype.
DR   MedGen; C1846278.
DR   MeSH; D038901.
KW   KW-0550:Obesity.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Meier-Gorlin syndrome 1.
AC   DI-03043
AR   MGORS1.
DE   A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE   the patellae, and severe intrauterine and postnatal growth retardation
DE   with short stature and poor weight gain. Additional clinical findings
DE   include anomalies of cranial sutures, microcephaly, apparently low-set
DE   and simple ears, microstomia, full lips, highly arched or cleft
DE   palate, micrognathia, genitourinary tract anomalies, and various
DE   skeletal anomalies. While almost all cases have primordial dwarfism
DE   with substantial prenatal and postnatal growth retardation, not all
DE   cases have microcephaly, and microtia and absent/hypoplastic patella
DE   are absent in some. Despite the presence of microcephaly, intellect is
DE   usually normal.
SY   Ear patella short stature syndrome.
SY   EPS.
SY   Microtia absent patellae micrognathia syndrome.
DR   MIM; 224690; phenotype.
DR   MedGen; C1868684.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 2.
AC   DI-03044
AR   MGORS2.
DE   A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE   the patellae, and severe intrauterine and postnatal growth retardation
DE   with short stature and poor weight gain. Additional clinical findings
DE   include anomalies of cranial sutures, microcephaly, apparently low-set
DE   and simple ears, microstomia, full lips, highly arched or cleft
DE   palate, micrognathia, genitourinary tract anomalies, and various
DE   skeletal anomalies. While almost all cases have primordial dwarfism
DE   with substantial prenatal and postnatal growth retardation, not all
DE   cases have microcephaly, and microtia and absent/hypoplastic patella
DE   are absent in some. Despite the presence of microcephaly, intellect is
DE   usually normal.
DR   MIM; 613800; phenotype.
DR   MedGen; C3151097.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 3.
AC   DI-03045
AR   MGORS3.
DE   A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE   the patellae, and severe intrauterine and postnatal growth retardation
DE   with short stature and poor weight gain. Additional clinical findings
DE   include anomalies of cranial sutures, microcephaly, apparently low-set
DE   and simple ears, microstomia, full lips, highly arched or cleft
DE   palate, micrognathia, genitourinary tract anomalies, and various
DE   skeletal anomalies. While almost all cases have primordial dwarfism
DE   with substantial prenatal and postnatal growth retardation, not all
DE   cases have microcephaly, and microtia and absent/hypoplastic patella
DE   are absent in some. Despite the presence of microcephaly, intellect is
DE   usually normal.
DR   MIM; 613803; phenotype.
DR   MedGen; C3151113.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 4.
AC   DI-03046
AR   MGORS4.
DE   A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE   the patellae, and severe intrauterine and postnatal growth retardation
DE   with short stature and poor weight gain. Additional clinical findings
DE   include anomalies of cranial sutures, microcephaly, apparently low-set
DE   and simple ears, microstomia, full lips, highly arched or cleft
DE   palate, micrognathia, genitourinary tract anomalies, and various
DE   skeletal anomalies. While almost all cases have primordial dwarfism
DE   with substantial prenatal and postnatal growth retardation, not all
DE   cases have microcephaly, and microtia and absent/hypoplastic patella
DE   are absent in some. Despite the presence of microcephaly, intellect is
DE   usually normal.
DR   MIM; 613804; phenotype.
DR   MedGen; C3151120.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 5.
AC   DI-03047
AR   MGORS5.
DE   A syndrome characterized by bilateral microtia, aplasia/hypoplasia of
DE   the patellae, and severe intrauterine and postnatal growth retardation
DE   with short stature and poor weight gain. Additional clinical findings
DE   include anomalies of cranial sutures, microcephaly, apparently low-set
DE   and simple ears, microstomia, full lips, highly arched or cleft
DE   palate, micrognathia, genitourinary tract anomalies, and various
DE   skeletal anomalies. While almost all cases have primordial dwarfism
DE   with substantial prenatal and postnatal growth retardation, not all
DE   cases have microcephaly, and microtia and absent/hypoplastic patella
DE   are absent in some. Despite the presence of microcephaly, intellect is
DE   usually normal.
DR   MIM; 613805; phenotype.
DR   MedGen; C3151126.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 6.
AC   DI-04664
AR   MGORS6.
DE   A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE   microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE   and postnatal growth retardation with short stature and poor weight
DE   gain. Additional clinical findings include anomalies of cranial
DE   sutures, microcephaly, apparently low-set and simple ears,
DE   microstomia, full lips, highly arched or cleft palate, micrognathia,
DE   genitourinary tract anomalies, and various skeletal anomalies. While
DE   almost all cases have primordial dwarfism with substantial prenatal
DE   and postnatal growth retardation, not all cases have microcephaly, and
DE   microtia and absent/hypoplastic patella are absent in some. Despite
DE   the presence of microcephaly, intellect is usually normal.
DR   MIM; 616835; phenotype.
DR   MedGen; CN235347.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 7.
AC   DI-04797
AR   MGORS7.
DE   A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE   microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE   and postnatal growth retardation with short stature and poor weight
DE   gain. Additional clinical findings include anomalies of cranial
DE   sutures, microcephaly, apparently low-set and simple ears,
DE   microstomia, full lips, highly arched or cleft palate, micrognathia,
DE   genitourinary tract anomalies, and various skeletal anomalies. While
DE   almost all cases have primordial dwarfism with substantial prenatal
DE   and postnatal growth retardation, not all cases have microcephaly, and
DE   microtia and absent/hypoplastic patella are absent in some. Despite
DE   the presence of microcephaly, intellect is usually normal. MGORS7
DE   inheritance is autosomal recessive.
DR   MIM; 617063; phenotype.
DR   MedGen; CN237807.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Meier-Gorlin syndrome 8.
AC   DI-05038
AR   MGORS8.
DE   A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral
DE   microtia, aplasia/hypoplasia of the patellae, and severe intrauterine
DE   and postnatal growth retardation with short stature and poor weight
DE   gain. Additional clinical findings include anomalies of cranial
DE   sutures, microcephaly, apparently low-set and simple ears,
DE   microstomia, full lips, highly arched or cleft palate, micrognathia,
DE   genitourinary tract anomalies, and various skeletal anomalies. While
DE   almost all cases have primordial dwarfism with substantial prenatal
DE   and postnatal growth retardation, not all cases have microcephaly, and
DE   microtia and absent/hypoplastic patella are absent in some. Despite
DE   the presence of microcephaly, intellect is usually normal. MGORS8
DE   inheritance is autosomal recessive.
DR   MIM; 617564; phenotype.
DR   MedGen; CN314201.
DR   MeSH; D006130.
DR   MeSH; D008844.
KW   KW-0242:Dwarfism.
//
ID   Melanocytic nevus syndrome, congenital.
AC   DI-04099
AR   CMNS.
DE   A syndrome characterized by congenital pigmentary skin lesions which
DE   can occur at any site and can cover most of the body surface. These
DE   lesions may or may not be hairy. Congenital melanocytic nevi are
DE   associated with neuromelanosis (the presence of melanin-producing
DE   cells within the brain parenchyma or leptomeninges). Less commonly
DE   they are associated with malignant melanoma in childhood, both in the
DE   skin and the central nervous system. CMNS patients also tend to have a
DE   characteristic facial appearance, including wide or prominent
DE   forehead, periorbital fullness, small short nose with narrow nasal
DE   bridge, round face, full cheeks, prominent premaxilla, and everted
DE   lower lip.
SY   Giant congenital pigmented nevus.
SY   Giant pigmented hairy nevus.
SY   GPHN.
SY   Pigmented moles.
DR   MIM; 137550; phenotype.
DR   MedGen; C1842036.
DR   MeSH; D009508.
//
ID   Melanoma, cutaneous malignant 2.
AC   DI-01459
AR   CMM2.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 2.
DR   MIM; 155601; phenotype.
DR   MedGen; C1835044.
DR   MeSH; D008545.
//
ID   Melanoma, cutaneous malignant 3.
AC   DI-01460
AR   CMM3.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 3.
DR   MIM; 609048; phenotype.
DR   MedGen; C1836892.
DR   MeSH; D008545.
//
ID   Melanoma, cutaneous malignant 5.
AC   DI-02516
AR   CMM5.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 5.
DR   MIM; 613099; phenotype.
DR   MedGen; C2751295.
DR   MeSH; D008545.
//
ID   Melanoma, cutaneous malignant 6.
AC   DI-03126
AR   CMM6.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 6.
DR   MIM; 613972; phenotype.
DR   MedGen; C3151417.
DR   MeSH; D008545.
//
ID   Melanoma, cutaneous malignant 8.
AC   DI-03341
AR   CMM8.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 8.
SY   Susceptibility to melanoma and renal cell carcinoma.
DR   MIM; 614456; phenotype.
DR   MedGen; C3152204.
DR   MeSH; D008545.
//
ID   Melanoma, cutaneous malignant 9.
AC   DI-03701
AR   CMM9.
DE   A malignant neoplasm of melanocytes, arising de novo or from a pre-
DE   existing benign nevus, which occurs most often in the skin but may
DE   also involve other sites.
SY   Cutaneous malignant melanoma 9.
DR   MIM; 615134; phenotype.
DR   MedGen; C3554574.
DR   MedGen; CN168272.
DR   MeSH; D008545.
//
ID   Melanoma, uveal, 1.
AC   DI-06493
AR   UVM1.
DE   Most common intraocular malignancy, arising from melanocytes in the
DE   iris, ciliary body, or choroid. Metastases develop in more than 30% of
DE   case patients, almost invariably in the liver, with poor prognosis.
DR   MIM; 606660; phenotype.
DR   MedGen; C1847724.
DR   MeSH; D008545.
//
ID   Melanoma, uveal, 2.
AC   DI-06494
AR   UVM2.
DE   Most common intraocular malignancy, arising from melanocytes in the
DE   iris, ciliary body, or choroid. Metastases develop in more than 30% of
DE   case patients, almost invariably in the liver, with poor prognosis.
DR   MIM; 606661; phenotype.
DR   MedGen; C1847723.
DR   MeSH; D008545.
//
ID   Melanoma-astrocytoma syndrome.
AC   DI-01961
AR   MASTS.
DE   Characterized by a dual predisposition to melanoma and neural system
DE   tumors, commonly astrocytoma.
DR   MIM; 155755; phenotype.
DR   MedGen; C1835042.
//
ID   Melanosis, neurocutaneous.
AC   DI-04100
AR   NCMS.
DE   A rare congenital disease characterized by the presence of giant or
DE   multiple melanocytic nevi on the skin, foci of melanin-producing cells
DE   within the brain parenchyma, and infiltration of leptomeninges by
DE   abnormal melanin deposits. Neurologic abnormalities include seizures,
DE   hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some
DE   patients may develop malignant melanoma.
SY   Neuromelanosis.
DR   MIM; 249400; phenotype.
DR   MedGen; C0544862.
DR   MeSH; D008548.
DR   MeSH; D020752.
//
ID   Melnick-Needles syndrome.
AC   DI-01962
AR   MNS.
DE   Severe congenital bone disorder characterized by typical facies
DE   (exophthalmos, full cheeks, micrognathia and malalignment of teeth),
DE   flaring of the metaphyses of long bones, s-like curvature of bones of
DE   legs, irregular constrictions in the ribs, and sclerosis of base of
DE   skull.
DR   MIM; 309350; phenotype.
DR   MedGen; C0025237.
//
ID   Melorheostosis, isolated.
AC   DI-01963
AR   MEL.
DE   A sclerosing bone disorder characterized by hyperostosis of the cortex
DE   of tubular bones, frequently involving one limb. The lesions may be
DE   accompanied by abnormalities of adjacent soft tissue, joint
DE   contractures, sclerodermatous skin lesions, muscle atrophy, or
DE   hemangioma.
DR   MIM; 155950; phenotype.
DR   MedGen; C0025239.
DR   MedGen; C3149631.
DR   MeSH; D008557.
//
ID   MEND syndrome.
AC   DI-04527
AR   MEND.
DE   An X-linked recessive disorder associated with a defect in sterol
DE   biosynthesis. Disease manifestations and severity are highly variable.
DE   Clinical features include intellectual disability, short stature,
DE   scoliosis, digital abnormalities, cataracts, and dermatologic
DE   abnormalities.
SY   Male EBP disorder with neurological defects.
DR   MIM; 300960; phenotype.
DR   MedGen; CN232914.
DR   MeSH; D043202.
//
ID   Meningioma.
AC   DI-04248
AR   MNGMA.
DE   A common neoplasm of the central nervous system derived from
DE   arachnoidal cells. The majority of meningiomas are well differentiated
DE   vascular tumors which grow slowly and have a low potential to be
DE   invasive, although malignant subtypes occur. Most cases are sporadic.
DE   Familial occurrence of meningioma is rare.
SY   Familial meningioma.
DR   MIM; 607174; phenotype.
DR   MedGen; C1333989.
DR   MedGen; C3551915.
DR   MeSH; D008579.
//
ID   Menke-Hennekam syndrome 1.
AC   DI-05487
AR   MKHK1.
DE   A form of Menke-Hennekam syndrome, a congenital autosomal dominant
DE   disease characterized by developmental delay, growth retardation, and
DE   craniofacial dysmorphism. Patients have intellectual disability of
DE   variable severity, speech delay, autistic behavior, short stature and
DE   microcephaly. Main facial characteristics include short palpebral
DE   fissures, telecanthi, depressed nasal ridge, short nose, anteverted
DE   nares, short columella and long philtrum.
DR   MIM; 618332; phenotype.
DR   MedGen; CN258217.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Menke-Hennekam syndrome 2.
AC   DI-05488
AR   MKHK2.
DE   A form of Menke-Hennekam syndrome, a congenital autosomal dominant
DE   disease characterized by developmental delay, growth retardation, and
DE   craniofacial dysmorphism. Patients have intellectual disability of
DE   variable severity, speech delay, autistic behavior, short stature and
DE   microcephaly. Main facial characteristics include short palpebral
DE   fissures, telecanthi, depressed nasal ridge, short nose, anteverted
DE   nares, short columella and long philtrum.
DR   MIM; 618333; phenotype.
DR   MedGen; CN258218.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Menkes disease.
AC   DI-00706
AR   MNK.
DE   An X-linked recessive disorder of copper metabolism characterized by
DE   generalized copper deficiency. MNKD results in progressive
DE   neurodegeneration and connective-tissue disturbances: focal cerebral
DE   and cerebellar degeneration, early growth retardation, peculiar hair,
DE   hypopigmentation, cutis laxa, vascular complications and death in
DE   early childhood. The clinical features result from the dysfunction of
DE   several copper-dependent enzymes. A mild form of the disease has been
DE   described, in which cerebellar ataxia and moderate developmental delay
DE   predominate.
SY   Kinky hair disease.
SY   Menkes syndrome.
SY   Steely hair disease.
DR   MIM; 309400; phenotype.
DR   MedGen; C0022716.
DR   MeSH; D007706.
KW   KW-0523:Neurodegeneration.
//
ID   Merosin-deficient congenital muscular dystrophy 1A.
AC   DI-01969
AR   MDC1A.
DE   Characterized by difficulty walking, hypotonia, proximal weakness,
DE   hyporeflexia, and white matter hypodensity on MRI.
DR   MIM; 607855; phenotype.
DR   MedGen; C1263858.
DR   MedGen; C1842898.
//
ID   Mesothelioma, malignant.
AC   DI-03213
AR   MESOM.
DE   An aggressive neoplasm of the serosal lining of the chest. It appears
DE   as broad sheets of cells, with some regions containing spindle-shaped,
DE   sarcoma-like cells and other regions showing adenomatous patterns.
DE   Pleural mesotheliomas have been linked to exposure to asbestos.
DR   MIM; 156240; phenotype.
DR   MedGen; C0345967.
DR   MeSH; D008654.
//
ID   Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.
AC   DI-04674
AR   MECRCN.
DE   An autosomal recessive disorder characterized by metabolic
DE   encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic
DE   rhabdomyolysis, susceptibility to life-threatening cardiac
DE   tachyarrhythmias, developmental delay, intellectual disability, and
DE   mild diffuse cerebral atrophy.
SY   Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.
DR   MIM; 616878; phenotype.
DR   MedGen; CN235671.
DR   MeSH; D012206.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.
AC   DI-05563
AR   MECREN.
DE   An autosomal recessive disease characterized by muscle weakness,
DE   developmental delay, lactic acidosis, and encephalopathy. The severity
DE   of the clinical manifestations is highly variable even within affected
DE   individuals of the same family, ranging from asymptomatic lactic
DE   acidosis to severe developmental regression, epilepsy, intellectual
DE   disability, metabolic crisis, and multiorgan involvement.
DR   MIM; 618416; phenotype.
DR   MedGen; CN258383.
DR   MeSH; D017237.
//
ID   Metacarpal 4-5 fusion.
AC   DI-03931
AR   MF4.
DE   A rare congenital malformation of the hand characterized by the
DE   partial or complete fusion of the fourth and fifth metacarpals. The
DE   anomaly occurs as an isolated trait or part of a syndrome.
DR   MIM; 309630; phenotype.
DR   MedGen; C1839728.
DR   MeSH; D006228.
//
ID   Metachondromatosis.
AC   DI-02832
AR   MC.
DE   A skeletal disorder with radiologic features of both multiple
DE   exostoses and Ollier disease, characterized by the presence of
DE   exostoses, commonly of the bones of the hands and feet, and
DE   enchondromas of the metaphyses of long bones and iliac crest.
DR   MIM; 156250; phenotype.
DR   MedGen; C0410530.
DR   MeSH; D018210.
//
ID   Metachromatic leukodystrophy.
AC   DI-00652
AR   MLD.
DE   An autosomal recessive disease caused by abnormal intralysosomal
DE   accumulation of cerebroside-3-sulfate in central and peripheral
DE   nervous systems, as well as other organs. MLD is clinically
DE   characterized by leukodystrophy, progressive demyelination and a
DE   variety of neurological symptoms, including gait disturbances,
DE   ataxias, optical atrophy, dementia, seizures, and spastic
DE   tetraparesis. Decreased arylsulfatase A activity is detected in urine,
DE   leukocytes, and fibroblasts of affected individuals. Several forms of
DE   the disease can be distinguished according to the age at onset and
DE   disease severity: late infantile, juvenile and adult forms, partial
DE   cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency.
DE   Individuals with pseudoarylsulfatase A deficiency have low
DE   arylsulfatase A activity but lack neurological manifestations and are
DE   apparently healthy.
SY   ARSA deficiency.
SY   Arylsulfatase A deficiency.
SY   Cerebral sclerosis, diffuse, metachromatic form.
SY   Cerebroside sulfatase deficiency.
SY   Metachromatic leukodystrophy, adult.
SY   Metachromatic leukodystrophy, juvenile.
SY   Metachromatic leukodystrophy, late infantile.
SY   Pseudoarylsulfatase A deficiency.
SY   Sulfatide lipidosis.
DR   MIM; 250100; phenotype.
DR   MedGen; C0023522.
DR   MedGen; C0751276.
DR   MedGen; C0751278.
DR   MedGen; C0751279.
DR   MedGen; C1855255.
DR   MedGen; C2713319.
DR   MeSH; D007966.
KW   KW-0478:Metachromatic leukodystrophy.
//
ID   Metachromatic leukodystrophy due to saposin B deficiency.
AC   DI-02744
AR   MLDSAPB.
DE   A form of metachromatic leukodystrophy biochemically characterized by
DE   tissue accumulation of cerebroside-3-sulfate, saposin B deficiency,
DE   and normal arylsulfatase A activity. Clinical manifestations include
DE   periventricular white matter abnormalities, demyelination, and
DE   peripheral neuropathy. Additional neurological features include
DE   dysarthria, ataxic gait, psychomotor regression, seizures, cognitive
DE   decline and spastic quadriparesis.
SY   Activator deficiency.
SY   Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency.
SY   Saposin B deficiency.
DR   MIM; 249900; phenotype.
DR   MedGen; C0268262.
DR   MeSH; D007966.
KW   KW-0478:Metachromatic leukodystrophy.
//
ID   Metaphyseal anadysplasia 1.
AC   DI-02635
AR   MANDP1.
DE   A bone development disorder characterized by skeletal anomalies that
DE   resolve spontaneously with age. Clinical characteristics are evident
DE   from the first months of life and include slight shortness of stature
DE   and a mild varus deformity of the legs. Patients attain a normal
DE   stature in adolescence and show improvement or complete resolution of
DE   varus deformity of the legs and rhizomelic micromelia.
DR   MIM; 602111; phenotype.
DR   MedGen; C2748495.
DR   MeSH; D001848.
//
ID   Metaphyseal anadysplasia 2.
AC   DI-02636
AR   MANDP2.
DE   A bone development disorder characterized by skeletal anomalies that
DE   resolve spontaneously with age. Clinical characteristics are evident
DE   from the first months of life and include slight shortness of stature
DE   and a mild varus deformity of the legs. Patients attain a normal
DE   stature in adolescence and show improvement or complete resolution of
DE   varus deformity of the legs and rhizomelic micromelia.
DR   MIM; 613073; phenotype.
DR   MedGen; C2751322.
DR   MeSH; D001848.
//
ID   Metaphyseal chondrodysplasia, Jansen type.
AC   DI-01847
AR   MCDJ.
DE   A rare autosomal dominant disorder characterized by a short-limbed
DE   dwarfism associated with hypercalcemia and normal or low serum
DE   concentrations of the two parathyroid hormones.
SY   Metaphyseal chondrodysplasia, Murk Jansen type.
DR   MIM; 156400; phenotype.
DR   MedGen; C0265295.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly.
AC   DI-03699
AR   MDMHB.
DE   An autosomal dominant bone dysplasia characterized by metaphyseal
DE   flaring of long bones, enlargement of the medial halves of the
DE   clavicles, maxillary hypoplasia, variable brachydactyly, and
DE   dystrophic teeth.
DR   MIM; 156510; phenotype.
DR   MedGen; C1834969.
DR   MedGen; C3549874.
DR   MeSH; D001848.
//
ID   Metaphyseal dysplasia, Spahr type.
AC   DI-04373
AR   MDST.
DE   An autosomal recessive, rare disease characterized by moderate short
DE   stature, mild genua vara, and radiographic signs of metaphyseal
DE   dysplasia, but no biochemical signs of rickets.
SY   Metaphyseal chondrodysplasia, Spahr type.
SY   Spahr type metaphyseal chondrodysplasia.
DR   MIM; 250400; phenotype.
DR   MedGen; C0432225.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Metatropic dysplasia.
AC   DI-02481
AR   MTD.
DE   A severe spondyloepimetaphyseal dysplasia characterized by short limbs
DE   with limitation and enlargement of joints and usually severe
DE   kyphoscoliosis. Radiologic features include severe platyspondyly,
DE   severe metaphyseal enlargement and shortening of long bones.
SY   Metatropic dwarfism.
DR   MIM; 156530; phenotype.
DR   MedGen; C0265281.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Methemoglobinemia and ambiguous genitalia.
AC   DI-02720
AR   METAG.
DE   An autosomal recessive disorder characterized by sex steroid
DE   deficiency but normal glucocorticoid and mineralocorticoid reserve,
DE   male undermasculinization, absent or disturbed pubertal development,
DE   decreased levels of erythrocyte cytochrome B5, and excessive amounts
DE   of methemoglobin in blood cells resulting in cyanosis and hypoxia.
SY   Isolated 17,20-lyase deficiency, pure.
SY   Methemoglobinemia due to deficiency of cytochrome b5.
SY   Methemoglobinemia type IV.
DR   MIM; 250790; phenotype.
DR   MedGen; C2673427.
DR   MeSH; D008708.
//
ID   Methemoglobinemia CYB5R3-related.
AC   DI-01723
AR   METHB-CYB5R3.
DE   A form of methemoglobinemia, a hematologic disease characterized by
DE   the presence of excessive amounts of methemoglobin in blood cells,
DE   resulting in decreased oxygen carrying capacity of the blood, cyanosis
DE   and hypoxia. There are two types of methemoglobinemia CYB5R3-related.
DE   In type 1, the defect affects the soluble form of the enzyme, is
DE   restricted to red blood cells, and causes well-tolerated
DE   methemoglobinemia. In type 2, the defect affects both the soluble and
DE   microsomal forms of the enzyme and is thus generalized, affecting red
DE   cells, leukocytes and all body tissues. Type 2 methemoglobinemia is
DE   associated with mental deficiency and other neurologic symptoms.
SY   Methemoglobinemia congenital autosomal recessive.
SY   Methemoglobinemia due to deficiency of methemoglobin reductase.
SY   Methemoglobinemia type I.
SY   Methemoglobinemia type II.
SY   NADH-cytochrome b5 reductase deficiency.
SY   NADH-cytochrome b5 reductase deficiency type I.
SY   NADH-cytochrome b5 reductase deficiency type II.
SY   NADH-dependent methemoglobin reductase deficiency.
DR   MIM; 250800; phenotype.
DR   MedGen; C0268193.
DR   MedGen; C2749559.
DR   MedGen; C2749560.
DR   MedGen; C2749561.
DR   MedGen; C2749562.
DR   MeSH; D008708.
//
ID   Methionine adenosyltransferase deficiency.
AC   DI-02745
AR   MATD.
DE   An inborn error of metabolism resulting in isolated
DE   hypermethioninemia. Most patients have no clinical abnormalities,
DE   although some neurologic symptoms may be present in rare cases with
DE   severe loss of methionine adenosyltransferase activity.
SY   Isolated persistent hypermethioninemia.
SY   MAT deficiency.
SY   MAT I/III deficiency.
DR   MIM; 250850; phenotype.
DR   MedGen; C0268621.
DR   MedGen; CN068479.
DR   MedGen; CN068480.
DR   MeSH; D000592.
//
ID   Methylmalonate semialdehyde dehydrogenase deficiency.
AC   DI-01973
AR   MMSDHD.
DE   A metabolic disorder characterized by elevated beta-alanine, 3-
DE   hydroxypropionic acid, and both isomers of 3-amino and 3-
DE   hydroxyisobutyric acids in urine organic acids.
SY   MMSDH deficiency.
DR   MIM; 614105; phenotype.
DR   MedGen; C1864150.
DR   MedGen; C3279840.
DR   MeSH; D000592.
//
ID   Methylmalonic aciduria and homocystinuria type cblJ.
AC   DI-03558
AR   MAHCJ.
DE   A disorder of cobalamin metabolism characterized by decreased levels
DE   of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
DE   (MeCbl). Clinical features include feeding difficulties, poor growth,
DE   hypotonia, lethargy, anemia, and developmental delay.
DR   MIM; 614857; phenotype.
DR   MedGen; C3553915.
DR   MedGen; CN158715.
DR   MeSH; D006712.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria and homocystinuria, cblC type.
AC   DI-00744
AR   MAHCC.
DE   An autosomal recessive disorder of cobalamin metabolism characterized
DE   by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE   methylcobalamin (MeCbl). Affected individuals may have developmental,
DE   hematologic, neurologic, metabolic, ophthalmologic, and dermatologic
DE   clinical findings. Although considered a disease of infancy or
DE   childhood, some individuals develop symptoms in adulthood.
SY   Methylmalonic acidemia and homocystinuria cblC type.
SY   Methylmalonic aciduria and homocystinuria vitamin B12-responsive.
SY   Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase.
DR   MIM; 277400; phenotype.
DR   MedGen; C1848561.
DR   MeSH; D006712.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria and homocystinuria, cblD type.
AC   DI-00745
AR   MAHCD.
DE   An autosomal recessive disorder of cobalamin metabolism characterized
DE   by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE   methylcobalamin (MeCbl). Clinical features include developmental
DE   delay, hyotonia, intellectual disability, seizures, megaloblastic
DE   anemia. Some patients manifest combined methylmalonic aciduria and
DE   homocystinuria (referred to as cblD original), some have only isolated
DE   homocystinuria (cblD variant 1), and others have only methylmalonic
DE   aciduria (cblD variant 2).
SY   Homocystinuria cblD variant 1.
SY   Methylmalonic acidemia and homocystinuria cblD type.
SY   Methylmalonic aciduria and homocystinuria cblD-combined.
SY   Methylmalonic aciduria and homocystinuria cblD original.
SY   Methylmalonic aciduria cblD variant 2.
DR   MIM; 277410; phenotype.
DR   MedGen; C1848552.
DR   MedGen; C1848553.
DR   MedGen; C1848554.
DR   MedGen; C2678262.
DR   MedGen; C2678263.
DR   MeSH; D006712.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria and homocystinuria, cblF type.
AC   DI-00746
AR   MAHCF.
DE   An autosomal recessive disorder of cobalamin metabolism characterized
DE   by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and
DE   methylcobalamin (MeCbl). It is due to accumulation of free cobalamin
DE   in lysosomes, thus hindering its conversion to cofactors. Clinical
DE   features include developmental delay, stomatitis, glossitis, seizures
DE   and methylmalonic aciduria responsive to vitamin B12.
SY   cblF.
SY   Cobalamin F disease.
SY   Methylcobalamin deficiency tape F.
SY   Methylmalonic acidemia and homocystinuria cblF type.
SY   Methylmalonic aciduria due to vitamin B12-release defect.
SY   Vitamin B12 lysosomal release defect.
SY   Vitamin B12 storage defect.
DR   MIM; 277380; phenotype.
DR   MedGen; C1848578.
DR   MeSH; D006712.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria and homocystinuria, cblX type.
AC   DI-03561
AR   MAHCX.
DE   An X-linked recessive metabolic disorder characterized by severely
DE   delayed psychomotor development apparent in infancy, failure to
DE   thrive, impaired intellectual development, and intractable epilepsy.
DE   Additional features may include microcephaly and choreoathetosis.
SY   Intellectual developmental disorder, X-linked 3.
SY   Methylmalonic aciduria and homocysteinemia , cblX type.
SY   MRX3.
SY   XLID3.
DR   MIM; 309541; phenotype.
DR   MedGen; C0796208.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.
AC   DI-00749
AR   MMAM.
DE   An often fatal disorder of organic acid metabolism. Common clinical
DE   features include lethargy, vomiting, failure to thrive, hypotonia,
DE   neurological deficit and early death. Two forms of the disease are
DE   distinguished by the presence (mut-) or absence (mut0) of residual
DE   enzyme activity. Mut0 patients have more severe neurological
DE   manifestations of the disease than do MUT- patients. MMAM is
DE   unresponsive to vitamin B12 therapy.
SY   Methylmalonicaciduria due to methylmalonyl-CoA mutase deficiency.
SY   Methylmalonic aciduria type mut.
SY   Methylmalonicaciduria vitamin B12 unresponsive.
DR   MIM; 251000; phenotype.
DR   MedGen; C1855114.
DR   MedGen; C1855115.
DR   MedGen; C1855116.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria type cblA.
AC   DI-00747
AR   MMAA.
DE   A disorder of methylmalonate and cobalamin metabolism due to defective
DE   synthesis of adenosylcobalamin.
SY   Methylmalonic aciduria type A.
SY   Vitamin B12 responsive methylmalonic acidemia type cbl A.
SY   Vitamin B12 responsive methylmalonic aciduria type cbl A.
DR   MIM; 251100; phenotype.
DR   MedGen; C1855109.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria type cblB.
AC   DI-00748
AR   MMAB.
DE   A disorder of methylmalonate and cobalamin metabolism due to defective
DE   synthesis of adenosylcobalamin.
SY   Methylmalonic aciduria type B.
SY   Vitamin B12 responsive methylmalonic acidemia type cbl B.
SY   Vitamin B12 responsive methylmalonic aciduria type cbl B.
DR   MIM; 251110; phenotype.
DR   MedGen; C1855102.
DR   MeSH; D008661.
//
ID   Methylmalonic aciduria, transient, due to transcobalamin receptor defect.
AC   DI-02979
AR   MMATC.
DE   A metabolic disorder characterized by increased blood C3-acylcarnitine
DE   levels, elevated methylmalonate and homocysteine, and low uptake of
DE   transcobalamin-bound cobalamin, but normal conversion to
DE   adenosylcobalamin and methylcobalamin.
SY   Methylmalonic acidemia TCblR type.
SY   Methylmalonic aciduria due to transcobalamin receptor defect.
SY   Methylmalonic aciduria type TCblR.
DR   MIM; 613646; phenotype.
DR   MedGen; C3150900.
DR   MeSH; D008661.
//
ID   Methylmalonyl-CoA epimerase deficiency.
AC   DI-01974
AR   MCEED.
DE   Autosomal recessive inborn error of amino acid metabolism, involving
DE   valine, threonine, isoleucine and methionine. This organic aciduria
DE   may present in the neonatal period with life-threatening metabolic
DE   acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
SY   Methylmalonic aciduria III.
SY   Methylmalonic aciduria type 3.
SY   Methylmalonyl-CoA racemase deficiency.
DR   MIM; 251120; phenotype.
DR   MedGen; C1855100.
DR   MedGen; C1855101.
//
ID   Mevalonic aciduria.
AC   DI-01975
AR   MEVA.
DE   Accumulation of mevalonic acid which causes a variety of symptoms such
DE   as psychomotor retardation, dysmorphic features, cataracts,
DE   hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and
DE   ataxia.
DR   MIM; 610377; phenotype.
DR   MedGen; C1959626.
//
ID   Microangiopathy and leukoencephalopathy, pontine, autosomal dominant.
AC   DI-05644
AR   PADMAL.
DE   A form of cerebral small vessel disease characterized by the
DE   recurrence of ischemic strokes starting in the thirties or forties,
DE   and associated with progressive imbalance and cognitive impairment.
DE   MRI examination shows ischemic lacunas in the pons and cerebral
DE   hemispheres, and diffuse leukoencephalopathy affecting various brain
DE   regions.
DR   MIM; 618564; phenotype.
DR   MedGen; CN262231.
DR   MeSH; D059345.
//
ID   Microcephalic osteodysplastic primordial dwarfism 2.
AC   DI-01976
AR   MOPD2.
DE   Adults with this rare inherited condition have an average height of
DE   100 centimeters and a brain size comparable to that of a 3-month-old
DE   baby, but are of near-normal intelligence.
SY   Osteodysplastic primordial dwarfism type 2.
DR   MIM; 210720; phenotype.
DR   MedGen; C0432246.
DR   MedGen; C1859451.
//
ID   Microcephaly 1, primary, autosomal recessive.
AC   DI-00751
AR   MCPH1.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DE   Some MCHP1 patients also present growth retardation, short stature,
DE   and misregulated chromosome condensation as indicated by a high number
DE   of prophase-like cells detected in routine cytogenetic preparations
DE   and poor-quality metaphase G-banding.
SY   Microcephaly vera.
SY   PCC syndrome.
SY   Premature chromosome condensation syndrome.
SY   True microcephaly.
DR   MIM; 251200; phenotype.
DR   MedGen; C1855081.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 10, primary, autosomal recessive.
AC   DI-03647
AR   MCPH10.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age-related mean. Brain weight is
DE   markedly reduced and the cerebral cortex is disproportionately small.
DE   MCPH10 is characterized by extremely small head size and death usually
DE   by 1 year of age. Neuropathologic examination shows severe loss of
DE   neurons as well as neuronal loss of polarity and abnormal dendritic
DE   maturation.
DR   MIM; 615095; phenotype.
DR   MedGen; C3554499.
DR   MedGen; CN165798.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 11, primary, autosomal recessive.
AC   DI-03890
AR   MCPH11.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age-related mean. Brain weight is
DE   markedly reduced and the cerebral cortex is disproportionately small.
DR   MIM; 615414; phenotype.
DR   MedGen; C3809431.
DR   MedGen; CN180048.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 12, primary, autosomal recessive.
AC   DI-04262
AR   MCPH12.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age-related mean. Brain weight is
DE   markedly reduced and the cerebral cortex is disproportionately small.
DR   MIM; 616080; phenotype.
DR   MedGen; CN220919.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 13, primary, autosomal recessive.
AC   DI-04269
AR   MCPH13.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age-related mean. Brain weight is
DE   markedly reduced and the cerebral cortex is disproportionately small.
DR   MIM; 616051; phenotype.
DR   MedGen; CN220782.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 14, primary, autosomal recessive.
AC   DI-04446
AR   MCPH14.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small.
DR   MIM; 616402; phenotype.
DR   MedGen; CN231127.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 16, primary, autosomal recessive.
AC   DI-04594
AR   MCPH16.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small.
DR   MIM; 616681; phenotype.
DR   MedGen; CN233372.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 17, primary, autosomal recessive.
AC   DI-04821
AR   MCPH17.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH17 is a severe form characterized by
DE   lissencephaly, enlarged ventricles, agenesis of the corpus callosum,
DE   cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest
DE   delayed psychomotor development, intellectual disability, spasticity,
DE   axial hypotonia, and dysmorphic features.
DR   MIM; 617090; phenotype.
DR   MedGen; CN238477.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 18, primary, autosomal dominant.
AC   DI-05016
AR   MCPH18.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH18 affected individuals manifest
DE   microcephaly with mild to moderate intellectual disability.
DR   MIM; 617520; phenotype.
DR   MedGen; CN251651.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 19, primary, autosomal recessive.
AC   DI-05157
AR   MCPH19.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH19 affected individuals manifest severe
DE   developmental delay, failure to thrive, cortical blindness, and
DE   spasticity. Brain imaging show a simplified gyral pattern, thin corpus
DE   callosum, slight ventricular dilation, and delayed myelination.
DR   MIM; 617800; phenotype.
DR   MedGen; CN677079.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.
AC   DI-03164
AR   MCPH2.
DE   A disease characterized by microcephaly, moderate to severe
DE   intellectual disability, and various type of cortical malformations in
DE   most patients. Microcephaly is defined as a head circumference more
DE   than 3 standard deviations below the age-related mean. Cortical
DE   malformations include pachygyria with cortical thickening, microgyria,
DE   lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All
DE   affected individuals have delayed psychomotor development. Some
DE   patients have seizures.
DR   MIM; 604317; phenotype.
DR   MedGen; C1858535.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 20, primary, autosomal recessive.
AC   DI-05207
AR   MCPH20.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH20 features include mild to moderate
DE   intellectual disability, autistic features, poor speech. Disease
DE   severity is highly variable.
DR   MIM; 617914; phenotype.
DR   MedGen; CN895593.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 21, primary, autosomal recessive.
AC   DI-05234
AR   MCPH21.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH21 features include mild intellectual
DE   disability, intrauterine growth retardation, short stature, and
DE   microcephaly.
DR   MIM; 617983; phenotype.
DR   MedGen; CN244930.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 22, primary, autosomal recessive.
AC   DI-05235
AR   MCPH22.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small.
DR   MIM; 617984; phenotype.
DR   MedGen; CN244931.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 23, primary, autosomal recessive.
AC   DI-05236
AR   MCPH23.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small.
DR   MIM; 617985; phenotype.
DR   MedGen; CN244932.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 24, primary, autosomal recessive.
AC   DI-05381
AR   MCPH24.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH24 patients additionally manifest mildly
DE   impaired intellectual development, cerebellar vermis hypoplasia, and
DE   fifth finger clinodactyly.
DR   MIM; 618179; phenotype.
DR   MedGen; CN257781.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 25, primary, autosomal recessive.
AC   DI-05495
AR   MCPH25.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH25 patients additionally manifest global
DE   developmental delay, severe intellectual disability with speech
DE   impairment, attention deficit-hyperactivity disorder, and reduced
DE   white matter and thin corpus callosum on brain imaging.
DR   MIM; 618351; phenotype.
DR   MedGen; CN258238.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly 26, primary, autosomal dominant.
AC   DI-06044
AR   MCPH26.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH26 is an autosomal dominant, progressive
DE   form apparent at birth or in early infancy. It is associated with
DE   relative short stature, variable severity of intellectual disability,
DE   and neurological features as the core symptoms. Brain imaging shows a
DE   simplified gyral pattern of the cortex and abnormal corpus callosum in
DE   some patients.
DR   MIM; 619179; phenotype.
DR   MedGen; CN295292.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 27, primary, autosomal dominant.
AC   DI-06045
AR   MCPH27.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH27 is an autosomal dominant form
DE   apparent in early childhood and associated with global developmental
DE   delay, delayed walking, inability to walk, impaired intellectual
DE   development, and poor or absent speech. Brain imaging may show
DE   enlarged ventricles or gyral abnormalities in some patients.
DR   MIM; 619180; phenotype.
DR   MedGen; CN295291.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 28, primary, autosomal recessive.
AC   DI-06154
AR   MCPH28.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH28 is an autosomal recessive form
DE   characterized by reduced head size (down to -8 SD) and variably
DE   impaired intellectual development apparent from early childhood.
DR   MIM; 619453; phenotype.
DR   MedGen; CN300070.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 29, primary, autosomal recessive.
AC   DI-06509
AR   MCPH29.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH29 is characterized by small head
DE   circumference apparent at birth and associated with global
DE   developmental delay, impaired intellectual development, speech delay,
DE   and behavioral abnormalities. Affected individuals also have poor
DE   overall growth with short stature, mild dysmorphic facial features,
DE   and seizures.
DR   MIM; 620047; phenotype.
DR   MedGen; CN322045.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 3, primary, autosomal recessive.
AC   DI-02206
AR   MCPH3.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 604804; phenotype.
DR   MedGen; C1858108.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 30, primary, autosomal recessive.
AC   DI-06562
AR   MCPH30.
DE   A form of microcephaly, a disease defined as a head circumference more
DE   than 3 standard deviations below the age, sex and ethnically matched
DE   mean. Brain weight is markedly reduced and the cerebral cortex is
DE   disproportionately small. MCPH30 is characterized by small head, poor
DE   overall growth, and global developmental delay with variably impaired
DE   intellectual development. Affected individuals may also have variable
DE   congenital anomalies, including atrial septal defect, dysmorphic
DE   facial features, tracheal stenosis, and anomalies of the skin and
DE   teeth.
DR   MIM; 620183; phenotype.
DR   MedGen; CN322671.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 4, primary, autosomal recessive.
AC   DI-02860
AR   MCPH4.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 604321; phenotype.
DR   MedGen; C1858516.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 5, primary, autosomal recessive.
AC   DI-00752
AR   MCPH5.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
SY   Microcephaly primary autosomal recessive 5 with simplified gyral pattern.
DR   MIM; 608716; phenotype.
DR   MedGen; C1837501.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 6, primary, autosomal recessive.
AC   DI-02207
AR   MCPH6.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 608393; phenotype.
DR   MedGen; C1608393.
DR   MedGen; C1842109.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 7, primary, autosomal recessive.
AC   DI-00753
AR   MCPH7.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 612703; phenotype.
DR   MedGen; C2675187.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 8, primary, autosomal recessive.
AC   DI-03470
AR   MCPH8.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 614673; phenotype.
DR   MedGen; C3553414.
DR   MedGen; CN128714.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly 9, primary, autosomal recessive.
AC   DI-03546
AR   MCPH9.
DE   A disease defined as a head circumference more than 3 standard
DE   deviations below the age-related mean. Brain weight is markedly
DE   reduced and the cerebral cortex is disproportionately small. Despite
DE   this marked reduction in size, the gyral pattern is relatively well
DE   preserved, with no major abnormality in cortical architecture.
DE   Affected individuals are mentally retarded. Primary microcephaly is
DE   further defined by the absence of other syndromic features or
DE   significant neurological deficits due to degenerative brain disorder.
DR   MIM; 614852; phenotype.
DR   MedGen; C3553886.
DR   MedGen; CN159222.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly and chorioretinopathy, autosomal recessive, 1.
AC   DI-03393
AR   MCCRP1.
DE   A syndrome characterized by microcephaly, cognitive impairment,
DE   underdeveloped retina and choroid, and epilepsy in some patients. The
DE   more anterior parts of the retina, near the periphery and pars plana,
DE   have a grayish hue and diminutive vasculature similar to retinopathy
DE   of prematurity. Visual impairment becomes evident during the first
DE   year of life.
DR   MIM; 251270; phenotype.
DR   MedGen; C0795793.
DR   MedGen; C1855056.
DR   MedGen; C3278481.
DR   MeSH; D008831.
DR   MeSH; D012164.
//
ID   Microcephaly and chorioretinopathy, autosomal recessive, 2.
AC   DI-04299
AR   MCCRP2.
DE   A severe disorder characterized by microcephaly, delayed psychomotor
DE   development, growth retardation with dwarfism, and ocular
DE   abnormalities.
DR   MIM; 616171; phenotype.
DR   MedGen; CN224990.
DR   MeSH; D008831.
DR   MeSH; D012164.
KW   KW-0242:Dwarfism.
//
ID   Microcephaly and chorioretinopathy, autosomal recessive, 3.
AC   DI-04411
AR   MCCRP3.
DE   A disorder characterized by congenital microcephaly and chorioretinal
DE   dysplasia associated with poor vision and nystagmus. Variable ocular
DE   anomalies include microphthalmia, retinal folding, retinal detachment,
DE   optic nerve hypoplasia, absence of retinal vessels, round areas of
DE   chorioretinal atrophy, and attenuated electroretinogram. Most patients
DE   have mild developmental delay and mild learning difficulties.
DR   MIM; 616335; phenotype.
DR   MedGen; CN230160.
DR   MeSH; D008831.
DR   MeSH; D012164.
//
ID   Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development.
AC   DI-03432
AR   MCLMR.
DE   An autosomal dominant disorder that involves an overlapping but
DE   variable spectrum of central nervous system and ocular developmental
DE   anomalies. Microcephaly ranges from mild to severe and is often
DE   associated with mild to moderate developmental delay and a
DE   characteristic facial phenotype with upslanting palpebral fissures,
DE   broad nose with rounded tip, long philtrum with thin upper lip,
DE   prominent chin, and prominent ears. Chorioretinopathy is the most
DE   common eye abnormality, but retinal folds, microphthalmia, and myopic
DE   and hypermetropic astigmatism have also been reported, and some
DE   individuals have no overt ocular phenotype. Congenital lymphedema,
DE   when present, is typically confined to the dorsa of the feet, and
DE   lymphoscintigraphy reveals the absence of radioactive isotope uptake
DE   from the webspaces between the toes.
SY   CDMMR syndrome.
SY   Lymphedema and retinal folds with microcephaly and microphthalmos.
SY   Lymphedema microcephaly chorioretinopathy syndrome.
SY   Microcephaly lymphedema chorioretinal dysplasia syndrome.
SY   MLCRD syndrome.
DR   MIM; 152950; phenotype.
DR   MedGen; C1835265.
DR   MeSH; D008831.
//
ID   Microcephaly, Amish type.
AC   DI-00750
AR   MCPHA.
DE   A disorder characterized by severe congenital microcephaly and severe
DE   2-ketoglutaric aciduria leading to death within the first year.
SY   Amish lethal microcephaly.
DR   MIM; 607196; phenotype.
DR   MedGen; C1846648.
DR   MeSH; D008831.
//
ID   Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
AC   DI-05464
AR   MCIDDS.
DE   An autosomal recessive syndrome characterized by cognitive impairment,
DE   attention deficit hyperactivity disorder, microcephaly, growth
DE   retardation, congenital cataract, and dystonia. Brain MRI shows
DE   unusual thinning of the lentiform nucleus, predominantly involving the
DE   putamen, and swelling in the caudate heads.
DR   MIM; 618284; phenotype.
DR   MedGen; CN258120.
DR   MeSH; D000015.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Microcephaly, congenital cataract, and psoriasiform dermatitis.
AC   DI-04663
AR   MCCPD.
DE   An autosomal recessive inborn error of cholesterol metabolism
DE   characterized by accumulation of a large amount of methylsterols,
DE   particularly dimethylsterols, in affected individuals. Patients
DE   manifest psoriasiform dermatitis, arthralgias, congenital cataracts,
DE   microcephaly, and developmental delay.
SY   SC4MOL deficiency.
DR   MIM; 616834; phenotype.
DR   MedGen; CN235344.
DR   MeSH; D008052.
KW   KW-0898:Cataract.
//
ID   Microcephaly, developmental delay, and brittle hair syndrome.
AC   DI-05847
AR   MDBH.
DE   An autosomal recessive disorder characterized by developmental delay,
DE   motor and cognitive disabilities, brittle hair and nails, failure to
DE   thrive, and short stature.
DR   MIM; 618891; phenotype.
DR   MedGen; CN280942.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
//
ID   Microcephaly, epilepsy, and diabetes syndrome 1.
AC   DI-03273
AR   MEDS1.
DE   An autosomal recessive disorder characterized by microcephaly,
DE   simplified gyral pattern, severe epilepsy, and infantile diabetes.
DR   MIM; 614231; phenotype.
DR   MedGen; C3280240.
DR   MeSH; D003920.
DR   MeSH; D004827.
DR   MeSH; D008831.
KW   KW-0219:Diabetes mellitus.
KW   KW-0887:Epilepsy.
//
ID   Microcephaly, epilepsy, and diabetes syndrome 2.
AC   DI-06083
AR   MEDS2.
DE   An autosomal recessive disorder characterized by neonatal or early-
DE   onset diabetes, severe microcephaly, and epilepsy.
DR   MIM; 619278; phenotype.
DR   MedGen; CN296389.
DR   MeSH; D003920.
DR   MeSH; D004827.
DR   MeSH; D008831.
KW   KW-0219:Diabetes mellitus.
KW   KW-0887:Epilepsy.
//
ID   Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.
AC   DI-05346
AR   MFRG.
DE   An autosomal dominant syndrome characterized by primary microcephaly,
DE   ambiguous male genitalia, dysmorphic facies, polydactyly, and
DE   unilateral renal agenesis. Variable brain, cardiac, and skeletal
DE   anomalies are present, including corpus callosum agenesis or
DE   dysgenesis, lissencephaly, atrial and ventricular septal defects,
DE   patent ductus arteriosus, hypoplastic right ventricle, and joint
DE   contractures.
DR   MIM; 618142; phenotype.
DR   MedGen; CN257928.
DR   MeSH; D000015.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly, growth deficiency, seizures, and brain malformations.
AC   DI-05506
AR   MIGSB.
DE   An autosomal recessive disorder characterized by intrauterine growth
DE   retardation, postnatal growth deficiency, microcephaly, facial
DE   dysmorphism, early-onset seizures, brain malformations such as partial
DE   agenesis of the corpus callosum and simplified gyration, and poor or
DE   absent psychomotor development.
DR   MIM; 618346; phenotype.
DR   MedGen; CN258240.
DR   MeSH; D004392.
DR   MeSH; D054220.
KW   KW-0887:Epilepsy.
//
ID   Microcephaly, growth restriction, and increased sister chromatid exchange 2.
AC   DI-05320
AR   MGRISCE2.
DE   An autosomal recessive disorder characterized by intrauterine growth
DE   restriction, poor postnatal growth with short stature and
DE   microcephaly, and increased sister chromatid exchange on cell studies.
DR   MIM; 618097; phenotype.
DR   MedGen; CN253708.
DR   MeSH; D049914.
KW   KW-0242:Dwarfism.
//
ID   Microcephaly, postnatal progressive, with seizures and brain atrophy.
AC   DI-02983
AR   MCPHSBA.
DE   A disorder characterized by postnatal progressive microcephaly and
DE   severe developmental retardation associated with cerebral and
DE   cerebellar atrophy. Infants manifest swallowing difficulties leading
DE   to failure to thrive, jitteriness, poor visual fixation, truncal
DE   arching, seizures. There is no acquisition of developmental milestones
DE   and patients suffer from marked spasticity and profound retardation.
DE   Progressive microcephaly becomes evident few months after birth.
DR   MIM; 613668; phenotype.
DR   MedGen; C3150921.
DR   MeSH; D008831.
//
ID   Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
AC   DI-04103
AR   MSCCA.
DE   A severe, autosomal recessive, neurodevelopmental and
DE   neurodegenerative disorder characterized by progressive microcephaly,
DE   severe seizures in infancy, atrophy of the cerebral cortex and
DE   cerebellar vermis, and mild atrophy of the cerebellar hemispheres,
DE   resulting in profoundly delayed development and hypotonia.
DR   MIM; 615760; phenotype.
DR   MedGen; CN186296.
DR   MeSH; D008831.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0905:Primary microcephaly.
//
ID   Microcephaly, seizures, and developmental delay.
AC   DI-02855
AR   MCSZ.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   infantile-onset seizures, microcephaly, severe intellectual disability
DE   and delayed motor milestones with absent speech or only achieving a
DE   few words. Most patients also have behavioral problems with
DE   hyperactivity. Microcephaly is progressive and without neuronal
DE   migration or structural abnormalities, consistent with primary
DE   microcephaly.
SY   DEE10.
SY   Developmental and epileptic encephalopathy 10.
SY   Early infantile epileptic encephalopathy 10.
SY   EIEE10.
DR   MIM; 613402; phenotype.
DR   MedGen; C3150667.
DR   MeSH; D008831.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly, short stature, and impaired glucose metabolism 1.
AC   DI-04234
AR   MSSGM1.
DE   An autosomal recessive disease characterized by microcephaly,
DE   intellectual disability, short stature, and disturbed glucose
DE   metabolism. Additional clinical features include delayed puberty,
DE   hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and
DE   early-onset diabetes.
SY   Microcephaly, short stature, and impaired glucose metabolism.
SY   MSSGM.
DR   MIM; 616033; phenotype.
DR   MedGen; CN219581.
DR   MeSH; D004392.
DR   MeSH; D008831.
DR   MeSH; D044882.
KW   KW-0219:Diabetes mellitus.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly, short stature, and impaired glucose metabolism 2.
AC   DI-04652
AR   MSSGM2.
DE   An autosomal recessive disease characterized by microcephaly,
DE   intellectual disability, short stature, and disturbed glucose
DE   metabolism.
DR   MIM; 616817; phenotype.
DR   MedGen; CN235207.
DR   MeSH; D004392.
DR   MeSH; D008831.
DR   MeSH; D044882.
KW   KW-0219:Diabetes mellitus.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Microcephaly, short stature, and limb abnormalities.
AC   DI-05065
AR   MISSLA.
DE   An autosomal recessive disorder characterized by intrauterine growth
DE   retardation, microcephaly, variable short stature, and limb
DE   abnormalities mainly affecting the upper limb and radial ray. Mild
DE   intellectual disability and developmental delay is observed in some
DE   patients.
DR   MIM; 617604; phenotype.
DR   MedGen; CN373593.
DR   MeSH; D004392.
DR   MeSH; D008831.
DR   MeSH; D017880.
KW   KW-0242:Dwarfism.
//
ID   Microcephaly, short stature, and polymicrogyria with or without seizures.
AC   DI-03556
AR   MSSP.
DE   A disease characterized by many irregular small gyri in the brain
DE   surface and fusion of the molecular layer over multiple small gyri,
DE   which gives a festooned appearance to the cortical surface, without
DE   abnormal neuronal migration. Polymicrogyria is a heterogeneous
DE   disorder, considered to be the result of postmigratory abnormal
DE   cortical organization. MSSP patients have moderate to severe
DE   intellectual disability, poor speech, dysarthria and seizures.
SY   PMGYS.
SY   Polymicrogyria with seizures.
DR   MIM; 614833; phenotype.
DR   MedGen; C3553831.
DR   MedGen; CN143955.
DR   MeSH; D054220.
//
ID   Microcephaly-capillary malformation syndrome.
AC   DI-03797
AR   MICCAP.
DE   A congenital disorder characterized by severe progressive
DE   microcephaly, early-onset refractory epilepsy, profound developmental
DE   delay, and multiple small capillary malformations spread diffusely on
DE   the body. Additional more variable features include dysmorphic facial
DE   features, distal limb abnormalities, and mild heart defects.
DR   MIM; 614261; phenotype.
DR   MedGen; C3280296.
DR   MeSH; D008831.
DR   MeSH; D054079.
//
ID   Microcephaly-micromelia syndrome.
AC   DI-05053
AR   MIMIS.
DE   A severe autosomal recessive disorder characterized by intrauterine
DE   growth restriction, marked microcephaly, craniofacial anomalies,
DE   skeletal dysplasia, and variable malformations of the limbs,
DE   particularly the upper limbs. It usually results in death in utero or
DE   in the perinatal period.
DR   MIM; 251230; phenotype.
DR   MedGen; C1855079.
DR   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Microcornea, myopic chorioretinal atrophy, and telecanthus.
AC   DI-03907
AR   MMCAT.
DE   A ocular syndrome characterized by microcornea and myopic
DE   chorioretinal atrophy. Microcornea is defined by a corneal diameter
DE   inferior to 10 mm in both meridians in an otherwise normal eye. In
DE   addition to ocular findings, some patients have telecanthus and
DE   posteriorly rotated ears.
DR   MIM; 615458; phenotype.
DR   MedGen; C3809567.
DR   MedGen; CN180182.
DR   MeSH; D005128.
DR   MeSH; D019465.
//
ID   Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1.
AC   DI-05960
AR   MRCS1.
DE   An autosomal dominant ocular disorder characterized by poor visual
DE   acuity in early childhood, due to congenital cataract and microcornea
DE   followed by rod-cone dystrophy, with later development of posterior
DE   staphyloma.
DR   MIM; 619082; phenotype.
DR   MedGen; CN293415.
DR   MeSH; D058499.
KW   KW-0898:Cataract.
//
ID   Microhydranencephaly.
AC   DI-04102
AR   MHAC.
DE   A severe neurodevelopmental disorder characterized by microcephaly,
DE   severe motor and intellectual disability, spasticity, and brain
DE   malformations that include gross dilation of the ventricles with
DE   complete absence of the cerebral hemispheres or severe delay in their
DE   development.
DR   MIM; 605013; phenotype.
DR   MedGen; C1857977.
DR   MeSH; D006832.
DR   MeSH; D008831.
//
ID   Micropenis.
AC   DI-04741
AR   MCRPENS.
DE   A disease trait defined as a stretched penile length of less than 2.5
DE   standard deviations below the mean for age. Traditionally, the term
DE   micropenis refers to a penis that is otherwise normally formed. The
DE   term microphallus is used when associated hypospadias is present. The
DE   mean stretched penile length in a full-term newborn male is 3.5 cm.
DE   Measurements of less than 2-2.5 cm in a full-term newborn male meet
DE   the definition of micropenis.
SY   Microphallus.
DR   MIM; 264600; phenotype.
DR   MedGen; C0266435.
DR   MedGen; CN000054.
DR   MeSH; D058490.
//
ID   Microphthalmia with cataracts and iris abnormalities.
AC   DI-00768
AR   MCOPCTI.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, cataract and other abnormalities like cataract may also be
DE   present.
DR   MIM; 610092; phenotype.
DR   MedGen; C1864722.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 2.
AC   DI-00755
AR   MCOP2.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present.
SY   Isolated clinical anophthalmia.
DR   MIM; 610093; phenotype.
DR   MedGen; C1864720.
DR   MeSH; D000853.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 4.
AC   DI-02535
AR   MCOP4.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present.
SY   Isolated clinical anophthalmia.
DR   MIM; 613094; phenotype.
DR   MedGen; C2751307.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 5.
AC   DI-00754
AR   MCOP5.
DE   A disorder characterized by posterior microphthalmia, retinitis
DE   pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a
DE   disorder of eye formation, ranging from small size of a single eye to
DE   complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present.
SY   Microphthalmia MFRP-related.
SY   Posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen.
DR   MIM; 611040; phenotype.
DR   MedGen; C1970236.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 6.
AC   DI-02986
AR   MCOP6.
DE   A developmental ocular disorder characterized by small malformed eyes.
DE   Clinical features are extreme hyperopia due to short axial length with
DE   essentially normal anterior segment, steep corneal curvatures, shallow
DE   anterior chamber, thick lenses, and thickened scleral wall. Palpebral
DE   fissures appear narrow because of relatively deep-set eyes, visual
DE   acuity is mildly to moderately reduced, and anisometropic or
DE   strabismic amblyopia is common. The fundus of the eye shows crowded
DE   optical disks, tortuous vessels, and an abnormal foveal avascular
DE   zone.
SY   Autosomal recessive posterior microphthalmos.
SY   Posterior non-syndromic microphthalmia.
DR   MIM; 613517; phenotype.
DR   MedGen; C3150757.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 7.
AC   DI-02974
AR   MCOP7.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present.
DR   MIM; 613704; phenotype.
DR   MedGen; C3150969.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, 8.
AC   DI-03703
AR   MCOP8.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present.
DR   MIM; 615113; phenotype.
DR   MedGen; C3554524.
DR   MedGen; CN168068.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 10.
AC   DI-04459
AR   MCOPCB10.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
DR   MIM; 616428; phenotype.
DR   MedGen; CN231314.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 3.
AC   DI-00759
AR   MCOPCB3.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 3.
DR   MIM; 610092; phenotype.
DR   MedGen; C1864721.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 5.
AC   DI-00760
AR   MCOPCB5.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 5.
DR   MIM; 611638; phenotype.
DR   MedGen; C1968843.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 6.
AC   DI-02975
AR   MCOPCB6.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 6.
DR   MIM; 613703; phenotype.
DR   MedGen; C3150968.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 7.
AC   DI-03384
AR   MCOPCB7.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 7.
DR   MIM; 614497; phenotype.
DR   MedGen; C3281027.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 8.
AC   DI-03952
AR   MCOPCB8.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 8.
DR   MIM; 601186; phenotype.
DR   MedGen; C3540845.
DR   MedGen; CN160496.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, isolated, with coloboma, 9.
AC   DI-03704
AR   MCOPCB9.
DE   A disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues. Ocular abnormalities
DE   like opacities of the cornea and lens, scaring of the retina and
DE   choroid, and other abnormalities may also be present. Ocular colobomas
DE   are a set of malformations resulting from abnormal morphogenesis of
DE   the optic cup and stalk, and the fusion of the fetal fissure (optic
DE   fissure).
SY   Isolated colobomatous microphthalmia 9.
DR   MIM; 615145; phenotype.
DR   MedGen; C3554592.
DR   MedGen; CN168287.
DR   MeSH; D003103.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic 16.
AC   DI-00756
AR   MCOPS16.
DE   An autosomal recessive disorder of eye formation, ranging from small
DE   size of a single eye to complete bilateral absence of ocular tissues.
DE   Ocular abnormalities like opacities of the cornea and lens, scaring of
DE   the retina and choroid, and other abnormalities may also be present.
DE   Some patients exhibit developmental delay and intellectual disability
DE   or autism.
SY   MCOP3.
SY   Microphthalmia, isolated, 3.
DR   MIM; 611038; phenotype.
DR   MedGen; C1970237.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 1.
AC   DI-04013
AR   MCOPS1.
DE   A rare syndrome defined by the canonical features of unilateral or
DE   bilateral microphthalmia or anophthalmia and defects in the skeletal
DE   and genitourinary systems. Microphthalmia is a disorder of eye
DE   formation, ranging from small size of a single eye to complete
DE   bilateral absence of ocular tissues (anophthalmia). In many cases,
DE   microphthalmia/anophthalmia occurs in association with syndromes that
DE   include non-ocular abnormalities. Anomalies of the digits, teeth, and
DE   ears are hallmarks of MCOPS1. Intellectual disability ranges from mild
DE   to severe, with self-mutilating behaviors and seizures in severely
DE   affected MCOPS1 individuals.
SY   ANOP1.
SY   Lenz dysplasia.
SY   Lenz microphthalmia syndrome.
SY   MAA.
SY   MCOPS4.
SY   Microphthalmia, syndromic 4.
SY   Microphthalmia or anophthalmos with associated anomalies.
DR   MIM; 309800; phenotype.
DR   MedGen; C0796016.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 11.
AC   DI-03496
AR   MCOPS11.
DE   A rare clinical entity including as main characteristics
DE   microphthalmia and small optic nerves, cleft lip and palate, absence
DE   of corpus callosum, hippocampal malformations, and absence of the
DE   pineal gland. Microphthalmia is a disorder of eye formation, ranging
DE   from small size of a single eye to complete bilateral absence of
DE   ocular tissues (anophthalmia). In many cases,
DE   microphthalmia/anophthalmia occurs in association with syndromes that
DE   include non-ocular abnormalities.
SY   Microphthalmia with corpus callosum agenesis and orofacial clefting.
DR   MIM; 614402; phenotype.
DR   MedGen; C3553077.
DR   MedGen; CN130950.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 12.
AC   DI-03951
AR   MCOPS12.
DE   A form of microphthalmia, a disorder of eye formation, ranging from
DE   small size of a single eye to complete bilateral absence of ocular
DE   tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE   occurs in association with syndromes that include non-ocular
DE   abnormalities. MCOPS12 patients manifest variable features, including
DE   diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.
SY   Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects.
DR   MIM; 615524; phenotype.
DR   MedGen; C3809803.
DR   MedGen; CN181448.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 13.
AC   DI-04169
AR   MCOPS13.
DE   A form of microphthalmia, a disorder of eye formation, ranging from
DE   small size of a single eye to complete bilateral absence of ocular
DE   tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE   occurs in association with syndromes that include non-ocular
DE   abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia
DE   with microcephaly, short stature, and psychomotor retardation.
SY   Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.
SY   Maine microphthalmos.
DR   MIM; 300915; phenotype.
DR   MedGen; C3806742.
DR   MedGen; CN184217.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 15.
AC   DI-05725
AR   MCOPS15.
DE   A form of microphthalmia, a disorder of eye formation, ranging from
DE   small size of a single eye to complete bilateral absence of ocular
DE   tissues (anophthalmia). In many cases, microphthalmia/anophthalmia
DE   occurs in association with syndromes that include non-ocular
DE   abnormalities. MCOPS15 is characterized by microphthalmia and/or
DE   coloboma, with developmental delay in which speech appears to be more
DE   severely affected than motor abilities. Additional ocular anomalies
DE   that have been observed include ptosis, keyhole-shaped pupils,
DE   microcornea, sclerocornea, and anterior segment dysgenesis.
SY   Microphthalmia and/or coloboma with developmental delay.
DR   MIM; 615145; phenotype.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 2.
AC   DI-00761
AR   MCOPS2.
DE   A very rare multiple congenital anomaly syndrome characterized by eye
DE   anomalies (congenital cataract, microphthalmia, or secondary
DE   glaucoma), facial abnormalities (long narrow face, high nasal bridge,
DE   pointed nose with cartilages separated at the tip, cleft palate, or
DE   submucous cleft palate), cardiac anomalies (atrial septal defect,
DE   ventricular septal defect, or floppy mitral valve) and dental
DE   abnormalities (canine radiculomegaly, delayed dentition, oligodontia,
DE   persistent primary teeth, or variable root length). Microphthalmia is
DE   a disorder of eye formation, ranging from small size of a single eye
DE   to complete bilateral absence of ocular tissues (anophthalmia). In
DE   many cases, microphthalmia/anophthalmia occurs in association with
DE   syndromes that include non-ocular abnormalities.
SY   Marashi-Gorlin syndrome.
SY   Microphthalmia, cataracts, radiculomegaly and septal heart defects.
SY   Oculofaciocardiodental syndrome.
SY   Oculo-facio-cardio-dental syndrome.
SY   OFCD syndrome.
DR   MIM; 300166; phenotype.
DR   MedGen; C1846265.
DR   MedGen; C2931601.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 3.
AC   DI-00762
AR   MCOPS3.
DE   A disease characterized by the rare association of malformations
DE   including uni- or bilateral anophthalmia or microphthalmia, and
DE   esophageal atresia with trachoesophageal fistula. Microphthalmia is a
DE   disorder of eye formation, ranging from small size of a single eye to
DE   complete bilateral absence of ocular tissues (anophthalmia). In many
DE   cases, microphthalmia/anophthalmia occurs in association with
DE   syndromes that include non-ocular abnormalities.
SY   AEG syndrome.
SY   Anophthalmia/microphthalmia-esophageal atresia.
SY   Anophthalmia-esophageal-genital syndrome.
SY   Microphthalmia and esophageal atresia syndrome.
DR   MIM; 206900; phenotype.
DR   MedGen; C1859773.
DR   MedGen; C1859774.
DR   MeSH; D004933.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 5.
AC   DI-00763
AR   MCOPS5.
DE   Patients manifest unilateral or bilateral microphthalmia/clinical
DE   anophthalmia and variable additional features including pituitary
DE   dysfunction, coloboma, microcornea, cataract, retinal dystrophy,
DE   hypoplasia or agenesis of the optic nerve, agenesis of the corpus
DE   callosum, developmental delay, joint laxity, hypotonia, and seizures.
DE   Microphthalmia is a disorder of eye formation, ranging from small size
DE   of a single eye to complete bilateral absence of ocular tissues
DE   (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE   association with syndromes that include non-ocular abnormalities.
DR   MIM; 610125; phenotype.
DR   MedGen; C1864690.
DR   MedGen; C3149814.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 6.
AC   DI-00764
AR   MCOPS6.
DE   A disease characterized by microphthalmia/anophthalmia associated with
DE   facial, genital, skeletal, neurologic and endocrine anomalies.
DE   Microphthalmia is a disorder of eye formation, ranging from small size
DE   of a single eye to complete bilateral absence of ocular tissues
DE   (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE   association with syndromes that include non-ocular abnormalities.
SY   Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia.
SY   Microphthalmia and pituitary anomalies.
SY   Microphthalmia with brain and digit developmental anomalies.
DR   MIM; 607932; phenotype.
DR   MedGen; C1864689.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 8.
AC   DI-00766
AR   MCOPS8.
DE   A very rare congenital syndrome characterized by microcephaly,
DE   microphthalmia, ectrodactyly of the lower limbs and prognathism.
DE   Intellectual deficit has been reported. Microphthalmia is a disorder
DE   of eye formation, ranging from small size of a single eye to complete
DE   bilateral absence of ocular tissues (anophthalmia). In many cases,
DE   microphthalmia/anophthalmia occurs in association with syndromes that
DE   include non-ocular abnormalities.
SY   Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism.
SY   MMEP.
SY   MMEP syndrome.
SY   Viljoen-Smart syndrome.
DR   MIM; 601349; phenotype.
DR   MedGen; C1832440.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia, syndromic, 9.
AC   DI-00767
AR   MCOPS9.
DE   A rare clinical entity including as main characteristics anophthalmia
DE   or severe microphthalmia, and pulmonary hypoplasia or aplasia.
DE   Microphthalmia is a disorder of eye formation, ranging from small size
DE   of a single eye to complete bilateral absence of ocular tissues
DE   (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
DE   association with syndromes that include non-ocular abnormalities.
SY   Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm.
SY   Anophthalmia/microphthalmia and pulmonary hypoplasia.
SY   Matthew-Wood syndrome.
SY   PDAC.
SY   PMD.
SY   Pulmonary agenesis, microphthalmia, and diaphragmatic defect.
SY   Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect.
SY   Spear syndrome.
DR   MIM; 601186; phenotype.
DR   MedGen; C1832661.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microphthalmia/coloboma and skeletal dysplasia syndrome.
AC   DI-04146
AR   MCSKS.
DE   A disease characterized by bilateral colobomatous microphthalmia or
DE   bilateral anophthalmia, associated with skeletal dysplasia in some
DE   cases. Additional ocular findings include microcornea, cataracts,
DE   corectopia and nystagmus. Intellectual disability is present in some
DE   patients.
SY   MCOPS14.
SY   Microphthalmia, syndromic, 14.
SY   Microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia.
DR   MIM; 615877; phenotype.
DR   MedGen; CN189715.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.
AC   DI-02815
AR   MSPKA.
DE   A rare disease characterized by smaller and more spherical lenses than
DE   normal bilaterally, an increased anteroposterior thickness of the
DE   lens, and highly myopic eyes. Lens dislocation or subluxation may
DE   occur, leading to defective accommodation.
DR   MIM; 251750; phenotype.
DR   MedGen; C1562061.
DR   MedGen; C3538951.
DR   MeSH; D007905.
//
ID   Microtia with or without hearing impairment.
AC   DI-03965
AR   MCRT.
DE   Microtia is a congenital deformity of the outer ear that is small and
DE   abnormally shaped. In classic microtia, the pinna is essentially
DE   absent, except for a vertical sausage-shaped skin remnant. The
DE   superior aspect of this sausage-shaped skin remnant consists of
DE   underlying unorganized cartilage, and the inferior aspect of this
DE   remnant consists of a relatively well-formed lobule.
DR   MIM; 612290; phenotype.
DR   MeSH; D000013.
//
ID   Microtia, hearing impairment, and cleft palate.
AC   DI-01978
AR   MHICP.
DE   A disease characterized by microtia, mixed symmetric severe to
DE   profound hearing impairment, and partial cleft palate. Microtia is a
DE   congenital deformity of the outer ear that is small and abnormally
DE   shaped. In classic microtia, the pinna is essentially absent, except
DE   for a vertical sausage-shaped skin remnant. The superior aspect of
DE   this sausage-shaped skin remnant consists of underlying unorganized
DE   cartilage, and the inferior aspect of this remnant consists of a
DE   relatively well-formed lobule. Syndromic forms of microtia occur in
DE   conjunction with other abnormalities including cleft palate, a
DE   congenital fissure of the soft and/or hard palate due to faulty
DE   fusion.
DR   MIM; 612290; phenotype.
DR   MedGen; C2676772.
DR   MeSH; D000013.
//
ID   Microvascular complications of diabetes 1.
AC   DI-02754
AR   MVCD1.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic end-stage renal disease.
SY   Diabetic nephropathy.
SY   Diabetic neuropathy.
SY   Non-proliferative diabetic retinopathy.
SY   Proliferative diabetic retinopathy.
DR   MIM; 603933; phenotype.
DR   MedGen; C2676832.
DR   MedGen; C2676833.
DR   MedGen; C2676834.
DR   MedGen; C2676835.
DR   MedGen; C2676836.
DR   MedGen; C2676837.
DR   MedGen; C2676838.
DR   MedGen; C2676839.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 2.
AC   DI-02755
AR   MVCD2.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic end-stage renal disease.
SY   Diabetic nephropathy.
SY   Proliferative diabetic retinopathy.
DR   MIM; 612623; phenotype.
DR   MedGen; C2675471.
DR   MedGen; CN031982.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 3.
AC   DI-02756
AR   MVCD3.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic end-stage renal disease.
SY   Diabetic nephropathy.
DR   MIM; 612624; phenotype.
DR   MedGen; C2675470.
DR   MedGen; CN031587.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 4.
AC   DI-02757
AR   MVCD4.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic nephropathy.
DR   MIM; 612628; phenotype.
DR   MedGen; C2675112.
DR   MedGen; CN034316.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 5.
AC   DI-02758
AR   MVCD5.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic nephropathy.
DR   MIM; 612633; phenotype.
DR   MedGen; C2674665.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 6.
AC   DI-02759
AR   MVCD6.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic nephropathy.
DR   MIM; 612634; phenotype.
DR   MedGen; C2675128.
DR   MedGen; CN031984.
DR   MeSH; D048909.
//
ID   Microvascular complications of diabetes 7.
AC   DI-02760
AR   MVCD7.
DE   Pathological conditions that develop in numerous tissues and organs as
DE   a consequence of diabetes mellitus. They include diabetic retinopathy,
DE   diabetic nephropathy leading to end-stage renal disease, and diabetic
DE   neuropathy. Diabetic retinopathy remains the major cause of new-onset
DE   blindness among diabetic adults. It is characterized by vascular
DE   permeability and increased tissue ischemia and angiogenesis.
SY   Diabetic nephropathy.
SY   Diabetic non-proliferative retinopathy.
SY   Diabetic proliferative retinopathy.
DR   MIM; 612635; phenotype.
DR   MedGen; C2673520.
DR   MedGen; CN034317.
DR   MeSH; D048909.
//
ID   Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.
AC   DI-04939
AR   MFHIEN.
DE   An X-linked recessive disorder with onset in early childhood,
DE   characterized by midface hypoplasia, hearing impairment,
DE   elliptocytosis, and nephrocalcinosis. Variable clinical features
DE   include anemia, and mild early motor or speech delay.
DR   MIM; 300990; phenotype.
DR   MedGen; CN240369.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0250:Elliptocytosis.
//
ID   Migraine with or without aura 13.
AC   DI-02934
AR   MGR13.
DE   A form of migraine transmitted in an autosomal dominant pattern.
DE   Migraine is a disabling symptom complex of periodic headaches, usually
DE   temporal and unilateral. Headaches are often accompanied by
DE   irritability, nausea, vomiting and photophobia, preceded by
DE   constriction of the cranial arteries. The two major subtypes are
DE   common migraine (migraine without aura) and classic migraine (migraine
DE   with aura). Classic migraine is characterized by recurrent attacks of
DE   reversible neurological symptoms (aura) that precede or accompany the
DE   headache. Aura may include a combination of sensory disturbances, such
DE   as blurred vision, hallucinations, vertigo, numbness and difficulty in
DE   concentrating and speaking.
SY   Migraine with aura 13.
DR   MIM; 613656; phenotype.
DR   MedGen; C3150908.
DR   MeSH; D020325.
DR   MeSH; D020326.
//
ID   Migraine, familial hemiplegic, 1.
AC   DI-01570
AR   FHM1.
DE   A subtype of migraine with aura associated with ictal hemiparesis and,
DE   in some families, cerebellar ataxia and atrophy. Migraine is a
DE   disabling symptom complex of periodic headaches, usually temporal and
DE   unilateral. Headaches are often accompanied by irritability, nausea,
DE   vomiting and photophobia, preceded by constriction of the cranial
DE   arteries. Migraine with aura is characterized by recurrent attacks of
DE   reversible neurological symptoms (aura) that precede or accompany the
DE   headache. Aura may include a combination of sensory disturbances, such
DE   as blurred vision, hallucinations, vertigo, numbness and difficulty in
DE   concentrating and speaking.
SY   FHM.
SY   MHP1.
SY   Migraine familial hemiplegic with progressive cerebellar ataxia.
DR   MIM; 141500; phenotype.
DR   MedGen; C1832884.
DR   MedGen; C1832894.
DR   MedGen; C1832903.
DR   MeSH; D020325.
//
ID   Migraine, familial hemiplegic, 2.
AC   DI-01571
AR   FHM2.
DE   A subtype of migraine with aura associated with hemiparesis in some
DE   families. Migraine is a disabling symptom complex of periodic
DE   headaches, usually temporal and unilateral. Headaches are often
DE   accompanied by irritability, nausea, vomiting and photophobia,
DE   preceded by constriction of the cranial arteries. Migraine with aura
DE   is characterized by recurrent attacks of reversible neurological
DE   symptoms (aura) that precede or accompany the headache. Aura may
DE   include a combination of sensory disturbances, such as blurred vision,
DE   hallucinations, vertigo, numbness and difficulty in concentrating and
DE   speaking.
SY   Familiar basilar migraine.
SY   MHP2.
DR   MIM; 602481; phenotype.
DR   MedGen; C1865322.
DR   MedGen; C1865323.
DR   MeSH; D020325.
//
ID   Migraine, familial hemiplegic, 3.
AC   DI-01572
AR   FHM3.
DE   A subtype of migraine associated with transient blindness in some
DE   families. Migraine is a disabling symptom complex of periodic
DE   headaches, usually temporal and unilateral. Headaches are often
DE   accompanied by irritability, nausea, vomiting and photophobia,
DE   preceded by constriction of the cranial arteries. The two major
DE   subtypes are common migraine (migraine without aura) and classic
DE   migraine (migraine with aura). Classic migraine is characterized by
DE   recurrent attacks of reversible neurological symptoms (aura) that
DE   precede or accompany the headache. Aura may include a combination of
DE   sensory disturbances, such as blurred vision, hallucinations, vertigo,
DE   numbness and difficulty in concentrating and speaking.
SY   MHP3.
DR   MIM; 609634; phenotype.
DR   MedGen; C1864987.
DR   MeSH; D020325.
//
ID   Miller-Dieker lissencephaly syndrome.
AC   DI-00769
AR   MDLS.
DE   A contiguous gene deletion syndrome of chromosome 17p13.3,
DE   characterized by classical lissencephaly and distinct facial features.
DE   Additional congenital malformations can be part of the condition.
DR   MIM; 247200; phenotype.
DR   MedGen; C0265219.
DR   MeSH; D054221.
KW   KW-0451:Lissencephaly.
//
ID   MIRAGE syndrome.
AC   DI-04777
AR   MIRAGE.
DE   A form of syndromic adrenal hypoplasia characterized by
DE   myelodysplasia, infection, restriction of growth, adrenal hypoplasia,
DE   genital phenotypes, and enteropathy.
SY   Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.
DR   MIM; 617053; phenotype.
DR   MedGen; CN237816.
DR   MeSH; D000309.
DR   MeSH; D001855.
DR   MeSH; D006130.
//
ID   Mirror movements 1.
AC   DI-02833
AR   MRMV1.
DE   A disorder characterized by contralateral involuntary movements that
DE   mirror voluntary ones. While mirror movements are occasionally found
DE   in young children, persistence beyond the age of 10 is abnormal.
DE   Mirror movements occur more commonly in the upper extremities. Some
DE   MRMV1 patients have agenesis of the corpus callosum.
SY   Bimanual synergia.
SY   Congenital mirror movements.
SY   Mirror movements 1 and/or agenesis of the corpus callosum.
DR   MIM; 157600; phenotype.
DR   MedGen; C1834870.
DR   MeSH; D020820.
//
ID   Mirror movements 2.
AC   DI-03399
AR   MRMV2.
DE   A disorder characterized by contralateral involuntary movements that
DE   mirror voluntary ones. While mirror movements are occasionally found
DE   in young children, persistence beyond the age of 10 is abnormal.
DE   Mirror movements occur more commonly in the upper extremities.
DR   MIM; 614508; phenotype.
DR   MedGen; C3281089.
DR   MeSH; D020820.
//
ID   Mirror movements 3.
AC   DI-04270
AR   MRMV3.
DE   A disorder characterized by contralateral involuntary movements that
DE   mirror voluntary ones. While mirror movements are occasionally found
DE   in young children, persistence beyond the age of 10 is abnormal.
DE   Mirror movements occur more commonly in the upper extremities.
DR   MIM; 616059; phenotype.
DR   MedGen; CN220783.
DR   MeSH; D020820.
//
ID   Mirror movements 4.
AC   DI-05444
AR   MRMV4.
DE   A disorder characterized by contralateral involuntary movements that
DE   mirror voluntary ones. While mirror movements are occasionally found
DE   in young children, persistence beyond the age of 10 is abnormal.
DE   Mirror movements occur more commonly in the upper extremities. MRMV4
DE   inheritance is autosomal dominant.
DR   MIM; 618264; phenotype.
DR   MedGen; CN258051.
DR   MeSH; D020820.
//
ID   Mismatch repair cancer syndrome 1.
AC   DI-01980
AR   MMRCS1.
DE   An autosomal recessive form of mismatch repair cancer syndrome, a
DE   childhood cancer predisposition syndrome encompassing a broad tumor
DE   spectrum. This includes hematological malignancies, central nervous
DE   system tumors, Lynch syndrome-associated malignancies such as
DE   colorectal tumors as well as multiple intestinal polyps, embryonic
DE   tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE   reminiscent of neurofibromatosis type 1, are often found as first
DE   manifestation of the underlying cancer.
SY   Brain tumor-polyposis syndrome 1.
SY   BTP1 syndrome.
SY   BTPS1.
SY   Childhood cancer syndrome.
SY   CMMRDS.
SY   Constitutional mismatch repair deficiency syndrome.
SY   Mismatch repair deficiency.
SY   MMR deficiency.
SY   Turcot syndrome.
DR   MIM; 276300; phenotype.
DR   MedGen; C0265325.
DR   MeSH; D009386.
//
ID   Mismatch repair cancer syndrome 2.
AC   DI-05969
AR   MMRCS2.
DE   An autosomal recessive form of mismatch repair cancer syndrome, a
DE   childhood cancer predisposition syndrome encompassing a broad tumor
DE   spectrum. This includes hematological malignancies, central nervous
DE   system tumors, Lynch syndrome-associated malignancies such as
DE   colorectal tumors as well as multiple intestinal polyps, embryonic
DE   tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE   reminiscent of neurofibromatosis type 1, are often found as first
DE   manifestation of the underlying cancer.
DR   MIM; 619096; phenotype.
DR   MedGen; CN293538.
DR   MeSH; D009386.
//
ID   Mismatch repair cancer syndrome 3.
AC   DI-05970
AR   MMRCS3.
DE   An autosomal recessive form of mismatch repair cancer syndrome, a
DE   childhood cancer predisposition syndrome encompassing a broad tumor
DE   spectrum. This includes hematological malignancies, central nervous
DE   system tumors, Lynch syndrome-associated malignancies such as
DE   colorectal tumors as well as multiple intestinal polyps, embryonic
DE   tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE   reminiscent of neurofibromatosis type 1, are often found as first
DE   manifestation of the underlying cancer.
DR   MIM; 619097; phenotype.
DR   MedGen; CN293539.
DR   MeSH; D009386.
//
ID   Mismatch repair cancer syndrome 4.
AC   DI-05971
AR   MMRCS4.
DE   An autosomal recessive form of mismatch repair cancer syndrome, a
DE   childhood cancer predisposition syndrome encompassing a broad tumor
DE   spectrum. This includes hematological malignancies, central nervous
DE   system tumors, Lynch syndrome-associated malignancies such as
DE   colorectal tumors as well as multiple intestinal polyps, embryonic
DE   tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature
DE   reminiscent of neurofibromatosis type 1, are often found as first
DE   manifestation of the underlying cancer.
DR   MIM; 619101; phenotype.
DR   MedGen; CN293540.
DR   MeSH; D009386.
//
ID   Mitchell syndrome.
AC   DI-05884
AR   MITCH.
DE   A disorder characterized by episodic demyelination, sensorimotor
DE   polyneuropathy, and sensorineural hearing loss.
DR   MIM; 618960; phenotype.
DR   MedGen; CN283287.
DR   MeSH; D002607.
DR   MeSH; D015418.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
//
ID   Mitchell-Riley syndrome.
AC   DI-02515
AR   MTCHRS.
DE   A disorder characterized by neonatal diabetes, hypoplastic or annular
DE   pancreas, duodenal and jejunal atresia, and absent gallbladder. There
DE   is no dysmorphic features.
SY   Diabetes neonatal with pancreatic hypoplasia intestinal atresia and gallbladder aplasia or hypoplasia.
DR   MIM; 615710; phenotype.
DR   MedGen; C2748662.
DR   MeSH; D004066.
//
ID   Mitochondrial complex I deficiency, mitochondrial type 1.
AC   DI-05429
AR   MC1DM1.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease.
DR   MIM; 500014; phenotype.
DR   MedGen; CN257501.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 1.
AC   DI-01981
AR   MC1DN1.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease.
SY   Complex I mitochondrial respiratory chain deficiency.
SY   Deficiency of mitochondrial NADH dehydrogenase component of complex I.
SY   Mitochondrial complex I deficiency.
SY   NADH:Q(1) oxidoreductase deficiency.
SY   NADH:Ubiquinone oxidoreductase deficiency.
SY   NADH-Coenzyme Q reductase deficiency.
DR   MIM; 252010; phenotype.
DR   MedGen; C2936907.
DR   MedGen; CN257533.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 10.
AC   DI-05408
AR   MC1DN10.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN10 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618233; phenotype.
DR   MedGen; CN257505.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 11.
AC   DI-05409
AR   MC1DN11.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN11 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618234; phenotype.
DR   MedGen; CN257506.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 12.
AC   DI-05399
AR   MC1DN12.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease.
DR   MIM; 301020; phenotype.
DR   MedGen; CN257499.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 13.
AC   DI-05410
AR   MC1DN13.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN13 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618235; phenotype.
DR   MedGen; CN257507.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 14.
AC   DI-05411
AR   MC1DN14.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN14 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618236; phenotype.
DR   MedGen; CN257513.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 15.
AC   DI-05412
AR   MC1DN15.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN15 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618237; phenotype.
DR   MedGen; CN257514.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 16.
AC   DI-05413
AR   MC1DN16.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN16 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618238; phenotype.
DR   MedGen; CN257515.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 17.
AC   DI-05414
AR   MC1DN17.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN17 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618239; phenotype.
DR   MedGen; CN257516.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 18.
AC   DI-05415
AR   MC1DN18.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN18 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618240; phenotype.
DR   MedGen; CN257517.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 19.
AC   DI-05416
AR   MC1DN19.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN19 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618241; phenotype.
DR   MedGen; CN257518.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 2.
AC   DI-05401
AR   MC1DN2.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN2 inheritance is autosomal recessive.
DR   MIM; 618222; phenotype.
DR   MedGen; CN257508.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 20.
AC   DI-01173
AR   MC1DN20.
DE   An autosomal recessive metabolic disorder associated with
DE   mitochondrial complex I deficiency, resulting in multisystemic and
DE   variable manifestations. Clinical features include infantile onset of
DE   acute metabolic acidosis, Reye-like episodes (brain edema and vomiting
DE   that may rapidly progress to seizures, coma and death), exercise
DE   intolerance, hypertrophic cardiomyopathy, liver failure, muscle
DE   weakness, and neurologic dysfunction.
SY   ACAD9 deficiency.
SY   Acyl-CoA dehydrogenase family, member 9, deficiency.
SY   Mitochondrial complex I deficiency due to ACAD9 deficiency.
DR   MIM; 611126; phenotype.
DR   MedGen; C1970173.
DR   MeSH; D008661.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 21.
AC   DI-05417
AR   MC1DN21.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN21 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618242; phenotype.
DR   MedGen; CN257519.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 22.
AC   DI-05418
AR   MC1DN22.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN22 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618243; phenotype.
DR   MedGen; CN257520.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 23.
AC   DI-05419
AR   MC1DN23.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN23 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618244; phenotype.
DR   MedGen; CN257521.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 24.
AC   DI-05420
AR   MC1DN24.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN24 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618245; phenotype.
DR   MedGen; CN257522.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 25.
AC   DI-05421
AR   MC1DN25.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN25 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618246; phenotype.
DR   MedGen; CN257523.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 26.
AC   DI-05422
AR   MC1DN26.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN26 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618247; phenotype.
DR   MedGen; CN257524.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 27.
AC   DI-05423
AR   MC1DN27.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN27 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618248; phenotype.
DR   MedGen; CN257525.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 28.
AC   DI-05424
AR   MC1DN28.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN28 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618249; phenotype.
DR   MedGen; CN257526.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 29.
AC   DI-05425
AR   MC1DN29.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN29 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618250; phenotype.
DR   MedGen; CN257527.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 3.
AC   DI-05402
AR   MC1DN3.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN3 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618224; phenotype.
DR   MedGen; CN257509.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 30.
AC   DI-05400
AR   MC1DN30.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease.
DR   MIM; 301021; phenotype.
DR   MedGen; CN257500.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 31.
AC   DI-05426
AR   MC1DN31.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN31 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618251; phenotype.
DR   MedGen; CN257528.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 32.
AC   DI-05427
AR   MC1DN32.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN32 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618252; phenotype.
DR   MedGen; CN257529.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 33.
AC   DI-05428
AR   MC1DN33.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN33 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618253; phenotype.
DR   MedGen; CN257530.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 34.
AC   DI-05760
AR   MC1DN34.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN34 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618776; phenotype.
DR   MedGen; CN263285.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 35.
AC   DI-05907
AR   MC1DN35.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN35 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 619003; phenotype.
DR   MedGen; CN283350.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 36.
AC   DI-06016
AR   MC1DN36.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN36 is characterized by global developmental
DE   delay, hypotonia, and failure to thrive apparent from infancy or early
DE   childhood. Affected individuals usually do not acquire ambulation,
DE   show progressive spasticity, and have impaired intellectual
DE   development with absent speech. MC1DN36 transmission pattern is
DE   consistent with autosomal recessive inheritance.
DR   MIM; 619170; phenotype.
DR   MedGen; CN295239.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 37.
AC   DI-06080
AR   MC1DN37.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN37 features include developmental delay,
DE   cerebral atrophy, epilepsy, growth retardation, congenital myopathy
DE   with disproportion of fibers, and severely decreased activity of
DE   complex I. MC1DN37 transmission pattern is consistent with autosomal
DE   recessive inheritance.
DR   MIM; 619272; phenotype.
DR   MedGen; CN296338.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 39.
AC   DI-06550
AR   MC1DN39.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN39 is an autosomal recessive form
DE   characterized by intrauterine growth retardation, anemia, and
DE   postpartum hypertrophic cardiomyopathy, lactic acidosis,
DE   encephalopathy, and a severe complex I defect with a fatal outcome.
DR   MIM; 620135; phenotype.
DR   MedGen; CN322490.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 4.
AC   DI-05403
AR   MC1DN4.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN4 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618225; phenotype.
DR   MedGen; CN257510.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 5.
AC   DI-05404
AR   MC1DN5.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN5 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618226; phenotype.
DR   MedGen; CN257511.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 6.
AC   DI-05405
AR   MC1DN6.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN6 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618228; phenotype.
DR   MedGen; CN257512.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 7.
AC   DI-05406
AR   MC1DN7.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN7 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618229; phenotype.
DR   MedGen; CN257502.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 8.
AC   DI-05398
AR   MC1DN8.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN8 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618230; phenotype.
DR   MedGen; CN257503.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex I deficiency, nuclear type 9.
AC   DI-05407
AR   MC1DN9.
DE   A form of mitochondrial complex I deficiency, the most common
DE   biochemical signature of mitochondrial disorders, a group of highly
DE   heterogeneous conditions characterized by defective oxidative
DE   phosphorylation, which collectively affects 1 in 5-10000 live births.
DE   Clinical disorders have variable severity, ranging from lethal
DE   neonatal disease to adult-onset neurodegenerative disorders.
DE   Phenotypes include macrocephaly with progressive leukodystrophy, non-
DE   specific encephalopathy, cardiomyopathy, myopathy, liver disease,
DE   Leigh syndrome, Leber hereditary optic neuropathy, and some forms of
DE   Parkinson disease. MC1DN9 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 618232; phenotype.
DR   MedGen; CN257504.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex II deficiency, nuclear type 1.
AC   DI-01380
AR   MC2DN1.
DE   A disorder of the mitochondrial respiratory chain with heterogeneous
DE   clinical manifestations. Clinical features include psychomotor
DE   regression in infants, poor growth with lack of speech development,
DE   severe spastic quadriplegia, dystonia, progressive
DE   leukoencephalopathy, muscle weakness, exercise intolerance,
DE   cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre
DE   syndrome. MC2DN1 inheritance is autosomal recessive.
SY   Complex 2 mitochondrial respiratory chain deficiency.
SY   Complex II mitochondrial respiratory chain deficiency.
SY   SDH-defective infantile leukoencephalopathy.
SY   Succinate CoQ reductase deficiency.
SY   Succinate dehydrogenase deficiency.
DR   MIM; 252011; phenotype.
DR   MedGen; C1855008.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex II deficiency, nuclear type 2.
AC   DI-06014
AR   MC2DN2.
DE   A form of mitochondrial complex II deficiency, a disorder with
DE   heterogeneous clinical manifestations. Some patients have multisystem
DE   involvement of the brain, heart, muscle, liver, and kidneys resulting
DE   in death in infancy, whereas others have only isolated cardiac or
DE   muscle involvement with onset in adulthood and normal cognition.
DE   Clinical features include psychomotor regression in infants, poor
DE   growth with lack of speech development, severe spastic quadriplegia,
DE   dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE   intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE   Kearns-Sayre syndrome. MC2DN2 inheritance is autosomal recessive.
DR   MIM; 619166; phenotype.
DR   MedGen; CN295237.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex II deficiency, nuclear type 3.
AC   DI-06015
AR   MC2DN3.
DE   A form of mitochondrial complex II deficiency, a disorder with
DE   heterogeneous clinical manifestations. Some patients have multisystem
DE   involvement of the brain, heart, muscle, liver, and kidneys resulting
DE   in death in infancy, whereas others have only isolated cardiac or
DE   muscle involvement with onset in adulthood and normal cognition.
DE   Clinical features include psychomotor regression in infants, poor
DE   growth with lack of speech development, severe spastic quadriplegia,
DE   dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE   intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE   Kearns-Sayre syndrome. MC2DN3 inheritance is autosomal recessive.
DR   MIM; 619167; phenotype.
DR   MedGen; CN295238.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex II deficiency, nuclear type 4.
AC   DI-06039
AR   MC2DN4.
DE   A form of mitochondrial complex II deficiency, a disorder with
DE   heterogeneous clinical manifestations. Some patients have multisystem
DE   involvement of the brain, heart, muscle, liver, and kidneys resulting
DE   in death in infancy, whereas others have only isolated cardiac or
DE   muscle involvement with onset in adulthood and normal cognition.
DE   Clinical features include psychomotor regression in infants, poor
DE   growth with lack of speech development, severe spastic quadriplegia,
DE   dystonia, progressive leukoencephalopathy, muscle weakness, exercise
DE   intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or
DE   Kearns-Sayre syndrome. MC2DN4 is a severe, autosomal recessive form
DE   characterized by early-onset progressive neurodegeneration with
DE   leukoencephalopathy.
DR   MIM; 619224; phenotype.
DR   MedGen; CN295804.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 1.
AC   DI-01982
AR   MC3DN1.
DE   A disorder of the mitochondrial respiratory chain resulting in a
DE   highly variable phenotype depending on which tissues are affected.
DE   Clinical features include mitochondrial encephalopathy, psychomotor
DE   retardation, ataxia, severe failure to thrive, liver dysfunction,
DE   renal tubulopathy, muscle weakness and exercise intolerance.
SY   Complex 3 mitochondrial respiratory chain deficiency.
SY   Complex III mitochondrial respiratory chain deficiency.
DR   MIM; 124000; phenotype.
DR   MedGen; C1852372.
DR   MedGen; C3541471.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 10.
AC   DI-05759
AR   MC3DN10.
DE   A form of mitochondrial complex III deficiency, a disorder of the
DE   mitochondrial respiratory chain resulting in a highly variable
DE   phenotype depending on which tissues are affected. MC3DN10 is an
DE   autosomal recessive form characterized by fetal bradycardia, poor
DE   feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low
DE   mitochondrial complex III activity and lactic acidosis.
DR   MIM; 618775; phenotype.
DR   MedGen; CN263279.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 11.
AC   DI-06551
AR   MC3DN11.
DE   A form of mitochondrial complex III deficiency, a disorder of the
DE   mitochondrial respiratory chain resulting in a highly variable
DE   phenotype depending on which tissues are affected. MC3DN11 is an
DE   autosomal recessive form characterized by recurrent episodes of severe
DE   lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy.
DR   MIM; 620137; phenotype.
DR   MedGen; CN322495.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 2.
AC   DI-03738
AR   MC3DN2.
DE   A disorder of the mitochondrial respiratory chain resulting in a
DE   highly variable phenotype depending on which tissues are affected.
DE   Clinical features include mitochondrial encephalopathy, psychomotor
DE   retardation, ataxia, severe failure to thrive, liver dysfunction,
DE   renal tubulopathy, muscle weakness and exercise intolerance.
DR   MIM; 615157; phenotype.
DR   MedGen; C3554605.
DR   MedGen; CN169526.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 3.
AC   DI-03736
AR   MC3DN3.
DE   A disorder of the mitochondrial respiratory chain resulting in a
DE   highly variable phenotype depending on which tissues are affected.
DE   Clinical features include mitochondrial encephalopathy, psychomotor
DE   retardation, ataxia, severe failure to thrive, liver dysfunction,
DE   renal tubulopathy, muscle weakness and exercise intolerance.
DR   MIM; 615158; phenotype.
DR   MedGen; C3554606.
DR   MedGen; CN177727.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 4.
AC   DI-03737
AR   MC3DN4.
DE   A disorder of the mitochondrial respiratory chain resulting in a
DE   highly variable phenotype depending on which tissues are affected.
DE   Clinical features include mitochondrial encephalopathy, psychomotor
DE   retardation, ataxia, severe failure to thrive, liver dysfunction,
DE   renal tubulopathy, muscle weakness and exercise intolerance.
DR   MIM; 615159; phenotype.
DR   MedGen; C3554607.
DR   MedGen; CN169525.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 5.
AC   DI-03739
AR   MC3DN5.
DE   A disorder of the mitochondrial respiratory chain resulting in a
DE   highly variable phenotype depending on which tissues are affected.
DE   Clinical features include mitochondrial encephalopathy, psychomotor
DE   retardation, ataxia, severe failure to thrive, liver dysfunction,
DE   renal tubulopathy, muscle weakness and exercise intolerance.
DR   MIM; 615160; phenotype.
DR   MedGen; C3554608.
DR   MedGen; CN169524.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 6.
AC   DI-03905
AR   MC3DN6.
DE   An autosomal recessive disorder caused by mitochondrial dysfunction.
DE   It is characterized by onset in early childhood of episodic acute
DE   lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia,
DE   usually associated with infection. Laboratory studies show decreased
DE   activity of mitochondrial complex III. Psychomotor development is
DE   normal.
DR   MIM; 615453; phenotype.
DR   MedGen; C3809553.
DR   MedGen; CN180180.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 7.
AC   DI-04118
AR   MC3DN7.
DE   A form of mitochondrial complex III deficiency, a disorder of the
DE   mitochondrial respiratory chain resulting in a highly variable
DE   phenotype depending on which tissues are affected. MC3DN7 is
DE   characterized by severe intrauterine growth retardation, neonatal
DE   lactic acidosis and renal tubular dysfunction. Additional clinical
DE   features include a dysmorphic facial appearance, delayed psychomotor
DE   development, autistic features, aggressive behavior, and mild
DE   sensorineural hearing loss.
DR   MIM; 615824; phenotype.
DR   MedGen; CN188214.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 8.
AC   DI-04116
AR   MC3DN8.
DE   A form of mitochondrial complex III deficiency, a disorder of the
DE   mitochondrial respiratory chain resulting in a highly variable
DE   phenotype depending on which tissues are affected. Clinical features
DE   include mitochondrial encephalopathy, psychomotor retardation, ataxia,
DE   severe failure to thrive, liver dysfunction, renal tubulopathy, muscle
DE   weakness and exercise intolerance.
DR   MIM; 615838; phenotype.
DR   MedGen; CN188725.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex III deficiency, nuclear type 9.
AC   DI-04284
AR   MC3DN9.
DE   A form of mitochondrial complex III deficiency, a disorder of the
DE   mitochondrial respiratory chain resulting in a highly variable
DE   phenotype depending on which tissues are affected. MC3DN9 clinical
DE   features include feeding difficulties, hypoglycemia, severe lactic
DE   acidosis, and delayed psychomotor development.
DR   MIM; 616111; phenotype.
DR   MedGen; CN221539.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency.
AC   DI-01469
AR   MT-C4D.
DE   A disorder of the mitochondrial respiratory chain with heterogeneous
DE   clinical manifestations, ranging from isolated myopathy to severe
DE   multisystem disease affecting several tissues and organs. Features
DE   include hypertrophic cardiomyopathy, hepatomegaly and liver
DE   dysfunction, hypotonia, muscle weakness, exercise intolerance,
DE   developmental delay, delayed motor development and intellectual
DE   disability. Some affected individuals manifest a fatal hypertrophic
DE   cardiomyopathy resulting in neonatal death. A subset of patients
DE   manifest Leigh syndrome.
SY   Complex 4 mitochondrial respiratory chain deficiency.
SY   Complex IV mitochondrial respiratory chain deficiency.
SY   COX deficiency.
SY   Cytochrome c oxidase deficiency.
SY   Lethal neonatal cardiomyopathy hypertrophic due to cytochrome c oxidase deficiency.
DR   MIM; 220110; phenotype.
DR   MedGen; C0268237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 1.
AC   DI-05950
AR   MC4DN1.
DE   An autosomal recessive disorder of the mitochondrial respiratory chain
DE   characterized by early-onset, rapidly progressive encephalopathy,
DE   neurodegeneration, and loss of motor and cognitive skills. Affected
DE   individuals show hypotonia, failure to thrive, loss of the ability to
DE   sit or walk, poor communication, poor eye contact, oculomotor
DE   abnormalities, as well as deafness, ataxia, tremor, and brisk tendon
DE   reflexes. Brain imaging shows bilateral symmetric lesions in the basal
DE   ganglia. Lactate levels in serum and cerebrospinal fluid are
DE   increased. Patient tissues show decreased levels and activity of
DE   mitochondrial respiratory complex IV. Death in childhood may occur,
DE   often due to central respiratory failure.
DR   MIM; 220110; phenotype.
DR   MedGen; C0268237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 10.
AC   DI-05932
AR   MC4DN10.
DE   An autosomal recessive mitochondrial disorder that manifests with
DE   neonatal neurological and respiratory distress. Clinical features
DE   include facial dysmorphism, hypotelorism, microphthalmia, an ogival
DE   palate, and severe metabolic acidosis. Death occurs in early infancy.
DE   Autoptic examination reveals brain hypertrophy, diffuse alteration of
DE   white matter myelination, numerous cavities in the parieto-occipital
DE   region, brainstem and cerebellum, as well as hepatomegaly,
DE   hypertrophic cardiomyopathy, renal hypoplasia, and adrenal
DE   hyperplasia. Patient tissues show decreased levels and activity of
DE   mitochondrial respiratory complex IV.
DR   MIM; 619053; phenotype.
DR   MedGen; CN293394.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 11.
AC   DI-05933
AR   MC4DN11.
DE   An autosomal recessive mitochondrial disorder with onset in childhood
DE   or adolescence. MC4DN11 is characterized by walking difficulties,
DE   cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria.
DE   Additional features may include sensory axonal neuropathy, cerebellar
DE   atrophy, and mild speech delay. Cognitive function is normal. Serum
DE   lactate levels are increased. Patient tissues show decreased levels
DE   and activity of mitochondrial respiratory complex IV.
DR   MIM; 619054; phenotype.
DR   MedGen; CN293395.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 12.
AC   DI-05934
AR   MC4DN12.
DE   An autosomal recessive mitochondrial disorder with onset in early
DE   infancy. MC4DN12 features include poor overall growth, metabolic
DE   acidosis, profoundly delayed psychomotor development, seizures,
DE   hypotonia, and brain abnormalities. Death may occur in the first years
DE   of life. Serum lactate and creatine kinase levels are increased.
DE   Patient tissues show decreased levels and activity of mitochondrial
DE   respiratory complex IV.
DR   MIM; 619055; phenotype.
DR   MedGen; CN293396.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 13.
AC   DI-04507
AR   MC4DN13.
DE   An autosomal recessive, infantile disorder with a fatal course in the
DE   first weeks of life, characterized by hypertrophic cardiomyopathy,
DE   left ventricular non-compaction, lactic acidosis, metabolic hypotonia,
DE   and mitochondrial complex IV deficiency.
SY   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4.
SY   CEMCOX4.
DR   MIM; 616501; phenotype.
DR   MedGen; CN231742.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 14.
AC   DI-05935
AR   MC4DN14.
DE   An autosomal recessive mitochondrial disorder with onset in early
DE   childhood. MC4DN14 is characterized by developmental delay, cognitive
DE   impairment, motor delay, abnormal gait, sensorimotor demyelinating
DE   polyneuropathy, exercise intolerance, obesity, and short stature.
DE   Serum lactate levels are marginally increased. Patient tissues show
DE   decreased levels and activity of mitochondrial respiratory complex IV.
DR   MIM; 619058; phenotype.
DR   MedGen; CN293397.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 15.
AC   DI-05936
AR   MC4DN15.
DE   An autosomal recessive mitochondrial disorder with onset in infancy.
DE   MC4DN15 is characterized by global developmental delay, poor feeding,
DE   metabolic acidosis, short stature, microcephaly, proximal muscle
DE   weakness, and distal spasticity. Additional manifestations include
DE   scoliosis, primary pulmonary hypertension, refractory seizures, and
DE   inability to walk. Serum and CSF lactate levels are increased. Patient
DE   tissues show decreased levels and activity of mitochondrial
DE   respiratory complex IV.
DR   MIM; 619059; phenotype.
DR   MedGen; CN293384.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 16.
AC   DI-05937
AR   MC4DN16.
DE   An autosomal recessive mitochondrial disorder with onset in infancy
DE   and variable manifestations. MC4DN16 features include feeding
DE   difficulties, poor overall growth, short stature, microcephaly,
DE   developmental regression, severe hypotonia, and seizures. Cerebral and
DE   cerebellar atrophy, and abnormal lesions in the basal ganglia can be
DE   observed on brain imaging. Patient tissues show decreased levels and
DE   activity of mitochondrial respiratory complex IV.
DR   MIM; 619060; phenotype.
DR   MedGen; CN293385.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 17.
AC   DI-05938
AR   MC4DN17.
DE   An autosomal recessive mitochondrial disorder with highly variable
DE   clinical manifestations and severity. Clinical features vary from
DE   acute neurometabolic decompensation in late infancy to subtle
DE   neurological signs presenting in adolescence. Encephalopathic episodes
DE   are characterized by acute loss of developmental milestones including
DE   ability to walk or sit, loss of speech, episodes with somnolence and
DE   seizure, and pyramidal signs rapidly evolving into spastic
DE   tetraparesis. The clinical course subsequently tends to stabilize and
DE   in several subjects marked recovery of neurological milestones is
DE   observed over time. Brain imaging shows a cavitating leukodystrophy,
DE   predominantly involving the posterior cerebral white matter and the
DE   corpus callosum in the acute stage, after which the abnormalities
DE   partially improve and then stabilize. Patient tissues show variably
DE   decreased levels and activity of mitochondrial respiratory complex IV.
DR   MIM; 619061; phenotype.
DR   MedGen; CN293386.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 18.
AC   DI-05939
AR   MC4DN18.
DE   An autosomal recessive, muscle-specific, mitochondrial disorder with
DE   onset in infancy. MC4DN18 is characterized by hypotonia, limb and
DE   facial muscle weakness, and high arched palate. Some patients have
DE   respiratory insufficiency at birth and cardiomyopathy. Patient
DE   skeletal muscle shows decreased levels and activity of mitochondrial
DE   respiratory complex IV.
DR   MIM; 619062; phenotype.
DR   MedGen; CN293387.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 19.
AC   DI-05940
AR   MC4DN19.
DE   An autosomal recessive mitochondrial disorder with onset in infancy or
DE   early childhood. MC4DN19 is characterized by global developmental
DE   delay, impaired intellectual development, developmental regression,
DE   loss of acquired motor and language skills, and motor dysfunction.
DE   Patient tissues show decreased levels and activity of mitochondrial
DE   respiratory complex IV.
DR   MIM; 619063; phenotype.
DR   MedGen; CN293388.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 2.
AC   DI-01608
AR   MC4DN2.
DE   An autosomal recessive, severe mitochondrial disorder characterized by
DE   hypotonia, global developmental delay, hypertrophic cardiomyopathy,
DE   lactic acidosis, gliosis, and neuronal loss in basal ganglia,
DE   brainstem and spinal cord. Serum lactate is increased, and laboratory
DE   studies show decreased mitochondrial complex IV protein and activity
DE   levels in various tissues, including heart and skeletal muscle. Most
DE   patients die in infancy of cardiorespiratory failure.
SY   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.
SY   CEMCOX1.
SY   Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy.
DR   MIM; 604377; phenotype.
DR   MedGen; C1858424.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 20.
AC   DI-05941
AR   MC4DN20.
DE   An autosomal recessive mitochondrial disorder with onset in early
DE   infancy. MC4DN20 is characterized by pulmonary arterial hypertension,
DE   poor feeding, failure to thrive, hypotonia, delayed development,
DE   increased serum lactate and metabolic acidosis. Death in infancy
DE   occurs due to cardiorespiratory failure. Patient tissues show variably
DE   decreased levels and activity of mitochondrial respiratory complex IV.
DR   MIM; 619064; phenotype.
DR   MedGen; CN293389.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 21.
AC   DI-05942
AR   MC4DN21.
DE   An autosomal recessive mitochondrial disorder with onset in infancy.
DE   MC4DN21 is characterized by congenital lactic acidosis,
DE   encephalopathy, global developmental delay, delayed speech, motor
DE   dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy,
DE   and seizures may also occur. Patient tissues show variably decreased
DE   levels and activity of mitochondrial respiratory complex IV.
DR   MIM; 619065; phenotype.
DR   MedGen; CN293398.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 22.
AC   DI-06121
AR   MC4DN22.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis,
DE   and isolated complex IV deficiency.
DR   MIM; 619355; phenotype.
DR   MedGen; CN296896.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 23.
AC   DI-06626
AR   MC4DN23.
DE   A primary mitochondrial disease, a clinically heterogeneous group of
DE   disorders arising from dysfunction of the mitochondrial respiratory
DE   chain. MC4DN23 is an autosomal recessive form characterized by
DE   infantile-onset encephalopathy. Clinical features include brain
DE   atrophy, severe developmental delay, seizures, and dyskinetic movement
DE   abnormalities.
DR   MIM; 620275; phenotype.
DR   MedGen; CN323667.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 3.
AC   DI-05928
AR   MC4DN3.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   cytochrome c oxidase deficiency. Clinical features include muscle
DE   weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding,
DE   delayed motor development, anemia, sensorineural hearing loss, and
DE   cardiomyopathy.
DR   MIM; 619046; phenotype.
DR   MedGen; CN293390.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 4.
AC   DI-05929
AR   MC4DN4.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   hypotonia, encephalopathy, metabolic acidosis, poor feeding,
DE   hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death
DE   occurs in infancy. Patient tissues show decreased levels and activity
DE   of mitochondrial respiratory complex IV.
DR   MIM; 619048; phenotype.
DR   MedGen; CN293391.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 5.
AC   DI-01887
AR   MC4DN5.
DE   An autosomal recessive, severe mitochondrial disease with
DE   multisystemic manifestations and early onset. Clinical features
DE   include delayed psychomotor development, impaired intellectual
DE   development with speech delay, mild dysmorphic facial features,
DE   hypotonia, ataxia, and seizures. Brain imaging shows bilaterally
DE   symmetrical necrotic lesions in subcortical brain regions. Mortality
DE   is high, due to episodes of severe metabolic acidosis and coma.
SY   COX deficiency, French Canadian type.
SY   COX deficiency, Saguenay-Lac-Saint-Jean type.
SY   Cytochrome c oxidase deficiency, French Canadian type.
SY   Leigh syndrome, French-Canadian type.
SY   Leigh syndrome, Saguenay-Lac-Saint-Jean type.
SY   LSFC.
DR   MIM; 220111; phenotype.
DR   MedGen; C1857355.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 6.
AC   DI-03707
AR   MC4DN6.
DE   An autosomal recessive multisystem disorder with variable
DE   manifestations. Some patients present in the neonatal period with
DE   encephalomyopathic features, whereas others present later in the first
DE   year of life with developmental regression. Clinical features include
DE   microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent
DE   lactic acidosis, respiratory distress, hypotonia and seizures. Serum
DE   lactate is increased, and laboratory studies show decreased
DE   mitochondrial complex IV protein and activity levels.
SY   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2.
SY   CEMCOX2.
DR   MIM; 615119; phenotype.
DR   MedGen; C3554534.
DR   MedGen; CN166800.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 7.
AC   DI-05930
AR   MC4DN7.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   encephalomyopathy resulting in variable clinical manifestations.
DE   Features include muscle weakness, gait disturbances,
DE   neurodegeneration, cognitive decline, metabolic acidosis, feeding
DE   difficulties, poor overall growth, cortical visual impairment, and
DE   hypertrophic cardiomyopathy. Serum lactate levels are increased.
DE   Patient tissues show decreased levels and activity of mitochondrial
DE   respiratory complex IV.
DR   MIM; 619051; phenotype.
DR   MedGen; CN293392.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 8.
AC   DI-05931
AR   MC4DN8.
DE   An autosomal recessive mitochondrial disorder characterized by slowly
DE   progressive cognitive dysfunction, dystonia or visual impairment that
DE   appear after an uneventful early childhood. Additional features
DE   include gait difficulties, spasticity, dysarthria, hypotonia, and
DE   variable intellectual disability. Brain imaging shows white matter
DE   abnormalities in the basal ganglia. Serum lactate levels are
DE   increased. Patient tissues show decreased levels and activity of
DE   mitochondrial respiratory complex IV.
DR   MIM; 619052; phenotype.
DR   MedGen; CN293393.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex IV deficiency, nuclear type 9.
AC   DI-04506
AR   MC4DN9.
DE   An autosomal recessive, infantile disorder with a fatal course in the
DE   first weeks of life, and characterized by hypertrophic cardiomyopathy
DE   and mitochondrial complex IV deficiency. Postmortem microscopic
DE   investigations show accumulation of lipid droplets in cardiomyocytes
DE   and mitochondrial proliferation.
SY   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3.
SY   CEMCOX3.
DR   MIM; 616500; phenotype.
DR   MedGen; CN231741.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, mitochondrial 1.
AC   DI-03714
AR   MC5DM1.
DE   A mitochondrial disorder with heterogeneous clinical manifestations
DE   including neuropathy, ataxia, hypertrophic cardiomyopathy.
DE   Hypertrophic cardiomyopathy can present with negligible to extreme
DE   hypertrophy, minimal to extensive fibrosis and myocyte disarray,
DE   absent to severe left ventricular outflow tract obstruction, and
DE   distinct septal contours/morphologies with extremely varying clinical
DE   course.
SY   Adult-onset ataxia and polyneuropathy.
SY   Infantile hypertrophic cardiomyopathy.
SY   Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1.
DR   MIM; 500015; phenotype.
DR   MedGen; C3275684.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, mitochondrial 2.
AC   DI-03713
AR   MC5DM2.
DE   A mitochondrial disorder with heterogeneous clinical manifestations
DE   including neuropathy, ataxia, hypertrophic cardiomyopathy.
DE   Hypertrophic cardiomyopathy can present with negligible to extreme
DE   hypertrophy, minimal to extensive fibrosis and myocyte disarray,
DE   absent to severe left ventricular outflow tract obstruction, and
DE   distinct septal contours/morphologies with extremely varying clinical
DE   course.
SY   Apical hypertrophic cardiomyopathy and neuropathy.
SY   Infantile hypertrophic cardiomyopathy.
SY   Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 2.
DR   MIM; 516070; gene+phenotype.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 1.
AC   DI-01381
AR   MC5DN1.
DE   A mitochondrial disorder with heterogeneous clinical manifestations
DE   including dysmorphic features, psychomotor retardation, hypotonia,
DE   growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE   kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE   fluid.
SY   ATPAF2 deficiency.
SY   ATPase deficiency.
SY   ATP synthase deficiency.
SY   Complex 5 mitochondrial respiratory chain deficiency.
SY   Complex V mitochondrial respiratory chain deficiency.
SY   Mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type.
SY   Mitochondrial complex V (ATP synthase) deficiency type 1.
DR   MIM; 604273; phenotype.
DR   MedGen; C2700431.
DR   MedGen; C2751773.
DR   MedGen; C3276276.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 2.
AC   DI-03147
AR   MC5DN2.
DE   A mitochondrial disorder with heterogeneous clinical manifestations
DE   including dysmorphic features, psychomotor retardation, hypotonia,
DE   growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE   kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE   fluid.
SY   Mitochondrial complex V (ATP synthase) deficiency TMEM70 type.
SY   Mitochondrial complex V (ATP synthase) deficiency type 2.
SY   Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.
SY   Mitochondrial neonatal encephalocardiomyopathy due to ATP synthase deficiency.
DR   MIM; 614052; phenotype.
DR   MedGen; C3279699.
DR   MedGen; CN077715.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 3.
AC   DI-03148
AR   MC5DN3.
DE   A mitochondrial disorder with heterogeneous clinical manifestations
DE   including dysmorphic features, psychomotor retardation, hypotonia,
DE   growth retardation, cardiomyopathy, enlarged liver, hypoplastic
DE   kidneys and elevated lactate levels in urine, plasma and cerebrospinal
DE   fluid.
SY   Mitochondrial complex V (ATP synthase) deficiency ATP5E type.
SY   Mitochondrial complex V (ATP synthase) deficiency type 3.
DR   MIM; 614053; phenotype.
DR   MedGen; C3279708.
DR   MedGen; CN077654.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 4A.
AC   DI-06674
AR   MC5DN4A.
DE   An autosomal dominant mitochondrial disorder characterized by failure
DE   to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and
DE   increased serum alanine levels. Some affected individuals show
DE   spontaneous resolution of the symptoms in early childhood and have
DE   subsequent normal growth and development, whereas others show
DE   developmental delay with impaired intellectual development and
DE   movement abnormalities, including dystonia, ataxia, or spasticity.
SY   Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A.
DR   MIM; 620358; phenotype.
DR   MedGen; CN327049.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 4B.
AC   DI-03740
AR   MC5DN4B.
DE   An autosomal recessive mitochondrial disorder characterized by severe
DE   neonatal encephalopathy resulting in death in the first weeks of life.
DE   Affected individuals do not show dysmorphic features or organomegaly,
DE   and manifest neurologic features such as irritability, a high-pitched
DE   cry, a horizontal and vertical nystagmus, abnormal primitive reflexes,
DE   and tonus dysregulation. Post-mortem anatomopathological examination
DE   shows extensive cerebral damage, hypoplastic lungs, and renal and
DE   skeletal lesions.
SY   Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type.
SY   Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type.
SY   Mitochondrial complex V (ATP synthase) deficiency type 4.
DR   MIM; 615228; phenotype.
DR   MedGen; C3808899.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 5.
AC   DI-05335
AR   MC5DN5.
DE   A mitochondrial disorder characterized by childhood onset of episodic
DE   metabolic decompensation featuring lactic acidosis and hyperammonemia
DE   accompanied by ketoacidosis or hypoglycemia. Chronic manifestations
DE   include developmental delay, easy fatiguability, and 3-
DE   methylglutaconic aciduria. The transmission pattern of MC5DN5 is
DE   consistent with autosomal recessive inheritance.
SY   Mitochondrial complex V  (ATP synthase)  deficiency, ATP5F1D type.
DR   MIM; 618120; phenotype.
DR   MedGen; CN253835.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 6.
AC   DI-05711
AR   MC5DN6.
DE   An autosomal recessive mitochondrial disorder characterized by gross
DE   motor developmental delay manifesting in the first years of life, and
DE   subsequent episodic developmental regression. The episodes are
DE   associated with metabolic stress, including fever, illness, and
DE   general anesthesia. Patients develop gait difficulties or loss of
DE   ambulation, as well as other variable abnormalities, including
DE   abnormal movements, hemiplegia, and persistent lethargy. Brain imaging
DE   shows degenerative features in the basal ganglia and brainstem
DE   consistent with a diagnosis of Leigh syndrome.
SY   Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6.
DR   MIM; 618683; phenotype.
DR   MedGen; CN262927.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial complex V deficiency, nuclear type 7.
AC   DI-06675
AR   MC5DN7.
DE   An autosomal recessive, severe, mitochondrial disorder apparent soon
DE   after birth. It is characterized by multisystemic features that
DE   include hypotonia, developmental delay, progressive epileptic
DE   encephalopathy, progressive cerebral atrophy, white matter
DE   abnormalities on brain imaging, and hypertrophic cardiomyopathy in
DE   some patients. Death in infancy or early childhood may occur.
SY   Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7.
DR   MIM; 620359; phenotype.
DR   MedGen; CN327046.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 1, MNGIE type.
AC   DI-01984
AR   MTDPS1.
DE   A multisystem disease associated with mitochondrial dysfunction. It is
DE   clinically characterized by onset between the second and fifth decades
DE   of life, ptosis, progressive external ophthalmoplegia,
DE   gastrointestinal dysmotility (often pseudoobstruction), diffuse
DE   leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
SY   Mitochondrial neurogastrointestinal encephalomyopathy.
SY   Mitochondrial neurogastrointestinal encephalopathy syndrome TYMP-related.
SY   Myoneurogastrointestinal encephalomyopathy.
SY   POLIP syndrome.
SY   Polyneuropathy ophthalmoplegia leukoencephalopathy and intestinal pseudoobstruction.
DR   MIM; 603041; phenotype.
DR   MedGen; C0872218.
DR   MeSH; D017237.
KW   KW-0622:Neuropathy.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Mitochondrial DNA depletion syndrome 10.
AC   DI-03390
AR   MTDPS10.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy,
DE   exercise intolerance, and lactic acidosis. Mental development is
DE   normal, but affected individuals may die early from cardiomyopathy.
SY   Cardiomyopathy and cataract.
SY   Mitochondrial DNA depletion syndrome 10 (cardiomyopathic type).
SY   Sengers syndrome.
DR   MIM; 212350; phenotype.
DR   MedGen; C1859317.
DR   MeSH; D002386.
DR   MeSH; D009202.
DR   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
KW   KW-0898:Cataract.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 11.
AC   DI-03645
AR   MTDPS11.
DE   An autosomal recessive mitochondrial disorder characterized by onset
DE   in childhood or adulthood of progressive external ophthalmoplegia,
DE   muscle weakness and atrophy, exercise intolerance, and respiratory
DE   insufficiency due to muscle weakness. More variable features include
DE   spinal deformity, emaciation, and cardiac abnormalities. Skeletal
DE   muscle biopsies show deletion and depletion of mitochondrial DNA
DE   (mtDNA) with variable defects in respiratory chain enzyme activities.
DR   MIM; 615084; phenotype.
DR   MedGen; C3554462.
DR   MedGen; CN165700.
DR   MeSH; D017240.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type.
AC   DI-04880
AR   MTDPS12A.
DE   An autosomal dominant mitochondrial disorder characterized by severe
DE   hypotonia due to mitochondrial dysfunction apparent at birth. Affected
DE   infants have respiratory insufficiency requiring mechanical
DE   ventilation and have poor or no motor development. Many die in
DE   infancy, and those that survive have profound hypotonia with
DE   significant muscle weakness and inability to walk independently. Some
DE   patients develop hypertrophic cardiomyopathy. Muscle samples show
DE   mtDNA depletion and severe combined mitochondrial respiratory chain
DE   deficiencies.
SY   Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant.
SY   Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant.
DR   MIM; 617184; phenotype.
DR   MedGen; CN239059.
DR   MeSH; D017240.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type.
AC   DI-03934
AR   MTDPS12B.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   childhood onset of slowly progressive hypertrophic cardiomyopathy and
DE   generalized skeletal myopathy resulting in exercise intolerance and,
DE   in some patients, muscle weakness and atrophy. Skeletal muscle biopsy
DE   shows ragged red fibers, mtDNA depletion, and accumulation of abnormal
DE   mitochondria.
SY   Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, autosomal recessive.
SY   Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive.
DR   MIM; 615418; phenotype.
DR   MedGen; C3809443.
DR   MedGen; CN180172.
DR   MeSH; D017240.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 13.
AC   DI-03915
AR   MTDPS13.
DE   An autosomal recessive disorder characterized by early infantile onset
DE   of encephalopathy, hypotonia, lactic acidosis, and severe global
DE   developmental delay. Cells derived from patient tissues show defects
DE   in mitochondrial oxidative phosphorylation and decreased mtDNA
DE   content.
SY   Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).
DR   MIM; 615471; phenotype.
DR   MedGen; C3809592.
DR   MedGen; CN180190.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type.
AC   DI-04691
AR   MTDPS14.
DE   An autosomal recessive mitochondrial disorder characterized by lethal
DE   infantile encephalopathy, hypertrophic cardiomyopathy and optic
DE   atrophy. Skeletal muscle biopsies show significant mtDNA depletion and
DE   abnormal mitochondria.
SY   Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type).
SY   Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type).
DR   MIM; 616896; phenotype.
DR   MedGen; CN236288.
DR   MeSH; D017240.
KW   KW-0122:Cardiomyopathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 15, hepatocerebral type.
AC   DI-04864
AR   MTDPS15.
DE   An autosomal recessive mitochondrial disorder characterized by severe
DE   intrauterine growth restriction, neonatal-onset hypoglycemia and liver
DE   dysfunction, mitochondrial DNA depletion in liver and skeletal muscle,
DE   and abnormal mitochondrial morphology observed in skeletal muscle.
DE   Hepatic pathology includes cirrhosis, steatosis and cholestasis.
DE   Progression to liver failure and death is rapid with no evidence of
DE   neurological impairment or other organ involvement.
SY   Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).
DR   MIM; 617156; phenotype.
DR   MedGen; CN238696.
DR   MeSH; D017240.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 16, hepatic type.
AC   DI-05631
AR   MTDPS16.
DE   An autosomal recessive disorder characterized by poor feeding,
DE   difficulty breathing, abdominal distention, an abnormal carnitine
DE   profile, metabolic acidosis and hepatic failure in the neonatal
DE   period. Severe mtDNA depletion is observed in liver and muscle
DE   biopsies.
DR   MIM; 618528; phenotype.
DR   MedGen; CN262181.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type.
AC   DI-06164
AR   MTDPS16B.
DE   An autosomal recessive disorder characterized by childhood onset of
DE   progressive neuroophthalmic manifestations with optic atrophy, mixed
DE   polyneuropathy, spinal and cerebellar ataxia, and generalized chorea
DE   associated with mtDNA depletion.
DR   MIM; 619425; phenotype.
DR   MedGen; CN299804.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 17.
AC   DI-05654
AR   MTDPS17.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   childhood onset of rapidly progressive encephalopathy, stroke-like
DE   episodes, lactic acidosis, hypocitrullinemia, multiple defects of
DE   oxidative phosphorylation, mitochondrial complex I and IV deficiency,
DE   and reduced mtDNA copy number.
DR   MIM; 618567; phenotype.
DR   MedGen; CN262227.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 18.
AC   DI-05790
AR   MTDPS18.
DE   An autosomal recessive mitochondrial disorder characterized by early-
DE   onset progressive weakness and atrophy of the distal limb muscles,
DE   loss of ambulation, and atrophy of the intrinsic hand muscles with
DE   clawed hands. Additional features include scoliosis, hypo- or
DE   hyperreflexia, and decreased pulmonary vital capacity. Examination of
DE   skeletal muscle shows mitochondrial respiratory chain deficiencies
DE   involving complexes I and IV, associated with mtDNA depletion.
DR   MIM; 618811; phenotype.
DR   MedGen; CN263372.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 19.
AC   DI-05891
AR   MTDPS19.
DE   An autosomal recessive mitochondrial disorder characterized by
DE   progressive and severe epileptic encephalopathy, hypotonia, poor
DE   spontaneous movements evolving to spastic quadriparesis and
DE   dyskinesias, and respiratory complex I deficiency and mitochondrial
DE   DNA depletion in skeletal muscle.
DR   MIM; 618972; phenotype.
DR   MedGen; CN283308.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 2.
AC   DI-02018
AR   MTDPS2.
DE   A disorder due to mitochondrial dysfunction characterized by childhood
DE   onset of muscle weakness associated with depletion of mtDNA in
DE   skeletal muscle. There is wide clinical variability; some patients
DE   have onset in infancy and show a rapidly progressive course with early
DE   death due to respiratory failure, whereas others have later onset of a
DE   slowly progressive myopathy.
SY   Mitochondrial DNA depletion myopathy TK2-related.
SY   Mitochondrial DNA depletion syndrome 2 myopathic type.
SY   Myopathic mitochondrial DNA depletion syndrome.
DR   MIM; 609560; phenotype.
DR   MedGen; C3149750.
DR   MeSH; D017240.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 20, MNGIE type.
AC   DI-06362
AR   MTDPS20.
DE   An autosomal recessive mitochondrial disorder characterized by severe
DE   gut dysmotility, muscle weakness and atrophy, neurological
DE   abnormalities including epilepsy, migraine, stroke-like episodes,
DE   learning difficulties or cognitive decline, and neurogenic bladder.
DE   Brain imaging usually shows diffuse leukoencephalopathy and may show
DE   cerebellar atrophy. Disease onset can range from infancy to the
DE   teenage years.
SY   Mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related.
DR   MIM; 619780; phenotype.
DR   MedGen; CN307037.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 3.
AC   DI-01709
AR   MTDPS3.
DE   A disorder due to mitochondrial dysfunction characterized by onset in
DE   infancy of progressive liver failure, hypoglycemia, increased lactate
DE   in body fluids, and neurologic abnormalities including hypotonia,
DE   encephalopathy, peripheral neuropathy. Affected tissues show both
DE   decreased activity of the mtDNA-encoded respiratory chain complexes
DE   and mtDNA depletion.
SY   Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive.
SY   Mitochondrial DNA depletion syndrome 3 hepatocerebral type.
DR   MIM; 251880; phenotype.
DR   MedGen; C3151513.
DR   MeSH; D017237.
KW   KW-0622:Neuropathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 4A.
AC   DI-00079
AR   MTDPS4A.
DE   An autosomal recessive hepatocerebral syndrome due to mitochondrial
DE   dysfunction. The typical course of the disease includes severe
DE   developmental delay, intractable seizures, liver failure, and death in
DE   childhood. Refractory seizures, cortical blindness, progressive liver
DE   dysfunction, and acute liver failure after exposure to valproic acid
DE   are considered diagnostic features. The neuropathological hallmarks
DE   are neuronal loss, spongiform degeneration, and astrocytosis of the
DE   visual cortex. Liver biopsy results show steatosis, often progressing
DE   to cirrhosis.
SY   AHS.
SY   Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis.
SY   Alpers-Huttenlocher syndrome.
SY   Alpers progressive infantile poliodystrophy.
SY   Alpers syndrome.
SY   Mitochondrial DNA depletion syndrome 4A Alpers type.
SY   Neuronal degeneration of childhood with liver disease progressive.
SY   PNDC.
DR   MIM; 203700; phenotype.
DR   MedGen; C0205710.
DR   MeSH; D002549.
KW   KW-0523:Neurodegeneration.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 4B.
AC   DI-02989
AR   MTDPS4B.
DE   An autosomal recessive progressive multisystem disorder due to
DE   mitochondrial dysfunction. It is clinically characterized by chronic
DE   gastrointestinal dysmotility and pseudo-obstruction, cachexia,
DE   progressive external ophthalmoplegia, axonal sensory ataxic
DE   neuropathy, and muscle weakness.
SY   Mitochondrial DNA depletion syndrome 4B MNGIE type.
SY   Mitochondrial neurogastrointestinal encephalopathy syndrome POLG-related.
SY   MNGIE POLG-related.
DR   MIM; 613662; phenotype.
DR   MedGen; C3150914.
DR   MeSH; D017237.
KW   KW-0622:Neuropathy.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Mitochondrial DNA depletion syndrome 5.
AC   DI-01523
AR   MTDPS5.
DE   A disorder due to mitochondrial dysfunction. It is characterized by
DE   infantile onset of hypotonia, neurologic deterioration, a
DE   hyperkinetic-dystonic movement disorder, external ophthalmoplegia,
DE   deafness, variable renal tubular dysfunction, and mild methylmalonic
DE   aciduria in some patients.
SY   Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria.
SY   Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria.
SY   Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related.
DR   MIM; 612073; phenotype.
DR   MedGen; C2749864.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 6.
AC   DI-03020
AR   MTDPS6.
DE   A disease due to mitochondrial dysfunction. It is characterized by
DE   infantile onset of progressive liver failure, often leading to death
DE   in the first year of life, peripheral neuropathy, corneal scarring,
DE   acral ulceration and osteomyelitis leading to autoamputation, cerebral
DE   leukoencephalopathy, failure to thrive, and recurrent metabolic
DE   acidosis with intercurrent infections.
SY   Mitochondrial DNA depletion 6 hepatocerebral type.
SY   Navajo familial neurogenic arthropathy.
SY   Navajo neurohepatopathy.
SY   Navajo neuropathy.
SY   NN.
SY   NNH.
DR   MIM; 256810; phenotype.
DR   MedGen; C1850406.
DR   MedGen; C1850407.
DR   MeSH; D017237.
KW   KW-0622:Neuropathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 7.
AC   DI-01065
AR   MTDPS7.
DE   A severe disease associated with mitochondrial dysfunction. Some
DE   patients are affected by progressive atrophy of the cerebellum, brain
DE   stem, the spinal cord, and sensory axonal neuropathy. Clinical
DE   features include hypotonia, athetosis, ataxia, ophthalmoplegia,
DE   sensorineural hearing deficit, sensory axonal neuropathy, epileptic
DE   encephalopathy and female hypogonadism. In some individuals liver
DE   dysfunction and multi-organ failure is present.
SY   IOSCA.
SY   Mitochondrial DNA depletion syndrome 7 hepatocerebral type.
SY   Ohaha syndrome.
SY   Ophthalmoplegia hypotonia ataxia hypoacusis and athetosis.
SY   Pure spinocerebellar ataxia Japanese type.
SY   SCA4 pure Japanese type.
SY   SCA8.
SY   Spinocerebellar ataxia 8.
SY   Spinocerebellar ataxia infantile-onset.
SY   Spinocerebellar ataxia infantile with sensory neuropathy.
DR   MIM; 271245; phenotype.
DR   MedGen; C1849096.
DR   MeSH; D020754.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 8A.
AC   DI-01522
AR   MTDPS8A.
DE   A disorder due to mitochondrial dysfunction characterized by various
DE   combinations of neonatal hypotonia, neurological deterioration,
DE   respiratory distress, lactic acidosis, and renal tubulopathy.
SY   Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy.
SY   Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy.
SY   Mitochondrial DNA depletion syndrome encephalomyopathic with renal tubulopathy autosomal recessive.
DR   MIM; 612075; phenotype.
DR   MedGen; C2749861.
DR   MedGen; CN187502.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 8B.
AC   DI-02988
AR   MTDPS8B.
DE   A disease due to mitochondrial dysfunction and characterized by
DE   ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia,
DE   peripheral neuropathy.
SY   Mitochondrial DNA depletion syndrome 8B MNGIE type.
SY   Mitochondrial neurogastrointestinal encephalopathy syndrome RRM2B-related.
SY   MNGIE RRM2B-related.
DR   MIM; 612075; phenotype.
DR   MedGen; C2749862.
DR   MedGen; C3150172.
DR   MeSH; D017237.
KW   KW-0622:Neuropathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial DNA depletion syndrome 9.
AC   DI-01609
AR   MTDPS9.
DE   A severe disorder due to mitochondrial dysfunction. It is
DE   characterized by infantile onset of hypotonia, lactic acidosis, severe
DE   psychomotor retardation, progressive neurologic deterioration, and
DE   excretion of methylmalonic acid.
SY   Fatal infantile lactic acidosis.
SY   Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria.
DR   MIM; 245400; phenotype.
DR   MedGen; C3151476.
DR   MeSH; D000140.
DR   MeSH; D017237.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
AC   DI-01983
AR   MELAS.
DE   Genetically heterogeneous disorder, characterized by episodic
DE   vomiting, seizures, and recurrent cerebral insults resembling strokes
DE   and causing hemiparesis, hemianopsia, or cortical blindness.
DR   MIM; 540000; phenotype.
DR   MedGen; C0162671.
KW   KW-0867:MELAS syndrome.
//
ID   Mitochondrial infantile bilateral striatal necrosis.
AC   DI-01818
AR   MIBSN.
DE   Bilateral striatal necrosis is a neurological disorder resembling
DE   Leigh syndrome.
DR   MIM; 500003; phenotype.
DR   MedGen; C1839022.
//
ID   Mitochondrial myopathy with lactic acidosis.
AC   DI-04438
AR   MMLA.
DE   An autosomal recessive disorder characterized by progressive muscle
DE   weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and
DE   elevated serum pyruvate concentration. Some patients manifest growth
DE   failure and moderate neural deafness.
DR   MIM; 251950; phenotype.
DR   MedGen; C1855033.
DR   MeSH; D017240.
//
ID   Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
AC   DI-05521
AR   MEOAL.
DE   An autosomal recessive neuromuscular disorder characterized by
DE   childhood onset of recurrent episodes of proximal weakness and myalgia
DE   often precipitated by exercise, infections or low temperature.
DE   Additional features are optic atrophy, axonal polyneuropathy, and
DE   reversible or partially reversible leukoencephalopathy.
DR   MIM; 251900; phenotype.
DR   MedGen; C0162670.
DR   MeSH; D017240.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial phosphate carrier deficiency.
AC   DI-01985
AR   MPCD.
DE   An autosomal recessive disorder of oxidative phosphorylation. Patients
DE   have lactic acidosis, hypertrophic cardiomyopathy and muscular
DE   hypotonia and die within the first year of life.
SY   Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis.
DR   MIM; 610773; phenotype.
DR   MedGen; C1835845.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
AC   DI-01986
AR   M-PEPCKD.
DE   Metabolic disorder resulting from impaired gluconeogenesis. It is a
DE   rare disease with less than 10 cases reported in the literature.
DE   Clinical characteristics include hypotonia, hepatomegaly, failure to
DE   thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty
DE   infiltration of both the liver and kidneys. The disorder is
DE   transmitted as an autosomal recessive trait.
DR   MIM; 261650; phenotype.
DR   MedGen; C1849821.
//
ID   Mitochondrial pyruvate carrier deficiency.
AC   DI-03497
AR   MPYCD.
DE   An autosomal recessive metabolic disorder characterized by severely
DE   delayed psychomotor development, mild dysmorphic features,
DE   hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal
DE   lactate/pyruvate, and encephalopathy. Some patients have epilepsy and
DE   peripheral neuropathy.
DR   MIM; 614741; phenotype.
DR   MedGen; C3553607.
DR   MedGen; CN130587.
DR   MeSH; D028361.
//
ID   Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.
AC   DI-04359
AR   ECHS1D.
DE   A severe, autosomal recessive inborn error affecting valine
DE   metabolism. Disease features include brain lesions in the basal
DE   ganglia, neurodegeneration, delayed psychomotor development,
DE   hypotonia, spasticity, and increased lactic acid in serum and cerebral
DE   serum fluid.
DR   MIM; 616277; phenotype.
DR   MedGen; CN228784.
DR   MeSH; D000592.
KW   KW-0523:Neurodegeneration.
//
ID   Mitochondrial trifunctional protein deficiency 1.
AC   DI-02388
AR   MTPD1.
DE   An autosomal recessive metabolic disorder of long-chain fatty acid
DE   oxidation, biochemically characterized by loss of all enzyme
DE   activities of the mitochondrial trifunctional protein complex. The
DE   disease phenotype ranges from a fatal form characterized by early-
DE   onset cardiomyopathy, cardiac failure and early death to less severe,
DE   late-onset forms with myopathy, recurrent rhabdomyolysis, and
DE   sensorimotor axonal neuropathy as key features.
SY   Trifunctional protein deficiency.
SY   Trifunctional protein deficiency with myopathy and neuropathy.
DR   MIM; 609015; phenotype.
DR   MedGen; C0342786.
DR   MedGen; C1969443.
DR   MeSH; D008052.
DR   MeSH; D017240.
//
ID   Mitochondrial trifunctional protein deficiency 2.
AC   DI-06635
AR   MTPD2.
DE   An autosomal recessive metabolic disorder of long-chain fatty acid
DE   oxidation, biochemically characterized by loss of all enzyme
DE   activities of the mitochondrial trifunctional protein complex. The
DE   disease phenotype ranges from a fatal form characterized by early-
DE   onset cardiomyopathy, cardiac failure and early death to less severe,
DE   late-onset forms with myopathy, recurrent rhabdomyolysis, and
DE   sensorimotor axonal neuropathy as key features.
DR   MIM; 620300; phenotype.
DR   MedGen; CN323725.
DR   MeSH; D008052.
DR   MeSH; D017240.
//
ID   Mitral valve prolapse 2.
AC   DI-04583
AR   MVP2.
DE   A form of mitral valve prolapse, a valvular heart disease
DE   characterized by abnormally elongated and thickened mitral valve
DE   leaflets, that typically show myxomatous degeneration with increased
DE   leaflet compliance. It is associated with mitral regurgitation.
DE   Myxomatous mitral valves have an abnormal layered architecture
DE   characterized by loose collagen in fibrosa, expanded spongiosa
DE   strongly positive for proteoglycans, and disrupted elastin in
DE   atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm
DE   thick, whereas in the non-classic form, they are less than 5 mm thick.
DE   Severe classic mitral valve prolapse is strongly associated with
DE   arrhythmias, endocarditis, heart failure, and need for valve surgery.
DE   MVP2 inheritance is autosomal dominant.
SY   Mitral valve prolapse, myxomatous 2.
SY   MMVP2.
SY   Myxomatous mitral valve prolapse 2.
DR   MIM; 607829; phenotype.
DR   MedGen; C1843003.
DR   MeSH; D008945.
//
ID   Mitral valve prolapse 3.
AC   DI-05973
AR   MVP3.
DE   An autosomal dominant form of mitral valve prolapse, a valvular heart
DE   disease characterized by abnormally elongated and thickened mitral
DE   valve leaflets, that typically show myxomatous degeneration with
DE   increased leaflet compliance. It is associated with mitral
DE   regurgitation. Myxomatous mitral valves have an abnormal layered
DE   architecture characterized by loose collagen in fibrosa, expanded
DE   spongiosa strongly positive for proteoglycans, and disrupted elastin
DE   in atrialis. In classic mitral valve prolapse, leaflets are at least 5
DE   mm thick, whereas in the non-classic form, they are less than 5 mm
DE   thick. Severe classic mitral valve prolapse is strongly associated
DE   with arrhythmias, endocarditis, heart failure, and need for valve
DE   surgery.
SY   Mitral valve prolapse, myxomatous 3.
SY   MMVP3.
SY   Myxomatous mitral valve prolapse 3.
DR   MIM; 610840; phenotype.
DR   MedGen; C1835814.
DR   MeSH; D008945.
//
ID   Miyoshi muscular dystrophy 1.
AC   DI-01987
AR   MMD1.
DE   A late-onset muscular dystrophy involving the distal lower limb
DE   musculature. It is characterized by weakness that initially affects
DE   the gastrocnemius muscle during early adulthood.
SY   Miyoshi myopathy.
SY   Muscular dystrophy distal late-onset autosomal recessive.
DR   MIM; 254130; phenotype.
DR   MedGen; C1850808.
DR   MeSH; D049310.
//
ID   Miyoshi muscular dystrophy 3.
AC   DI-02704
AR   MMD3.
DE   A late-onset muscular dystrophy characterized by distal muscle
DE   weakness of the lower limbs, calf muscle discomfort and weakness,
DE   quadriceps atrophy. Muscle weakness and atrophy may be asymmetric.
SY   Miyoshi myopathy 3.
DR   MIM; 613319; phenotype.
DR   MedGen; C2750076.
DR   MeSH; D049310.
//
ID   Mohr-Tranebjaerg syndrome.
AC   DI-01988
AR   MTS.
DE   An X-linked recessive disorder characterized by postlingual
DE   sensorineural deafness with onset in early childhood, dystonia,
DE   spasticity, dysphagia, mental deterioration, paranoia and cortical
DE   blindness.
SY   DDP.
SY   DDS.
SY   Deafness-dystonia-optic atrophy syndrome.
SY   Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency.
SY   DFN-1.
SY   Dystonia-deafness syndrome.
SY   Jensen syndrome.
SY   Opticoacoustic nerve atrophy with dementia.
SY   X-linked progressive deafness type 1.
DR   MIM; 304700; phenotype.
DR   MedGen; C0796074.
DR   MeSH; D008607.
DR   MeSH; D054062.
KW   KW-0209:Deafness.
KW   KW-1023:Dystonia.
//
ID   Molybdenum cofactor deficiency, complementation group A.
AC   DI-01989
AR   MOCODA.
DE   An autosomal recessive metabolic disorder leading to the pleiotropic
DE   loss of molybdoenzyme activities. It is clinically characterized by
DE   onset in infancy of poor feeding, intractable seizures, severe
DE   psychomotor retardation, and death in early childhood in most
DE   patients.
SY   Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase.
SY   Molybdenum cofactor deficiency A.
DR   MIM; 252150; phenotype.
DR   MedGen; C0268119.
DR   MedGen; C1854988.
DR   MeSH; D008664.
//
ID   Molybdenum cofactor deficiency, complementation group B.
AC   DI-01990
AR   MOCODB.
DE   An autosomal recessive metabolic disorder characterized by neonatal
DE   onset of intractable seizures, opisthotonus, and facial dysmorphism
DE   associated with hypouricemia and elevated urinary sulfite levels.
DE   Affected individuals show severe neurologic damage and often die in
DE   early childhood.
SY   Molybdenum cofactor deficiency B.
DR   MIM; 252160; phenotype.
DR   MedGen; C1854989.
DR   MeSH; D008664.
//
ID   Molybdenum cofactor deficiency, complementation group C.
AC   DI-01991
AR   MOCODC.
DE   A form of molybdenum cofactor deficiency, an autosomal recessive
DE   metabolic disorder leading to the pleiotropic loss of molybdoenzyme
DE   activities. It is clinically characterized by onset in infancy of poor
DE   feeding, intractable seizures, severe psychomotor retardation, and
DE   death in early childhood in most patients.
SY   Molybdenum cofactor deficiency C.
DR   MIM; 615501; phenotype.
DR   MedGen; C1854990.
DR   MeSH; D008664.
//
ID   Monilethrix.
AC   DI-01992
AR   MNLIX.
DE   A disorder clinically characterized by alopecia and follicular
DE   papules. Affected hairs have uniform elliptical nodes of normal
DE   thickness and intermittent constrictions, internodes at which the hair
DE   easily breaks. Usually only the scalp is involved, but in severe
DE   forms, the secondary sexual hair, eyebrows, eyelashes, and nails may
DE   also be affected.
DR   MIM; 158000; phenotype.
DR   MedGen; C0546966.
DR   MeSH; D056734.
//
ID   Monocarboxylate transporter 1 deficiency.
AC   DI-04263
AR   MCT1D.
DE   A metabolic disorder characterized by recurrent ketoacidosis, a
DE   pathologic state due to ketone formation exceeding ketone utilization.
DE   The clinical consequences of ketoacidosis are vomiting, osmotic
DE   diuresis, dehydration, and Kussmaul breathing. The condition may
DE   progress to decreased consciousness and, ultimately, death.
DR   MIM; 616095; phenotype.
DR   MedGen; CN221290.
DR   MeSH; D007662.
//
ID   Monocarboxylate transporter 8 deficiency.
AC   DI-01993
AR   MCT8 deficiency.
DE   Consists of a severe form of X-linked psychomotor retardation combined
DE   with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency
DE   can be caused by defects of hormone synthesis and action, but it has
DE   also been linked to a defect in cellular hormone transport. Affected
DE   patients are males with abnormal relative concentrations of three
DE   circulating iodothyronines, as well as severe neurological
DE   abnormalities, including global developmental delay, central
DE   hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus,
DE   and impaired gaze and hearing. Heterozygous females had a milder
DE   thyroid phenotype and no neurological defects.
SY   AHDS.
SY   Allan-Herndon-Dudley syndrome.
DR   MIM; 300523; phenotype.
DR   MedGen; C0795889.
//
ID   Mononeuropathy of the median nerve mild.
AC   DI-02929
AR   MNMN.
DE   A disease characterized by median nerve mononeuropathy at the wrist.
DE   The clinical presentation ranges from a mild phenotype, consistent
DE   with carpal tunnel syndrome, to a severe median nerve mononeuropathy
DE   at the wrist associated with evidence of a more widespread axonal
DE   polyneuropathy. The latter phenotype is similar to that of patients
DE   with hereditary neuropathy with liability to pressure palsies.
SY   Carpal tunnel syndrome.
DR   MIM; 613353; phenotype.
DR   MedGen; C3150596.
DR   MeSH; D002349.
//
ID   Monosomy 7 myelodysplasia and leukemia syndrome 1.
AC   DI-05981
AR   M7MLS1.
DE   A hematologic disorder characterized by bone marrow dyspoiesis and
DE   pancytopenia manifesting in early childhood, associated with monosomy
DE   7 in the bone marrow. Disease severity ranges from transient
DE   thrombocytopenia or anemia, or normal peripheral blood counts with
DE   transient bone marrow abnormalities or transient monosomy 7, to frank
DE   myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1
DE   inheritance is autosomal dominant with incomplete penetrance and
DE   variable expressivity.
SY   Chromosome 7q deletion.
SY   Familial mosaic monosomy 7 syndrome.
SY   MLSM7.
SY   Monosomy of bone marrow.
DR   MIM; 252270; phenotype.
DR   MedGen; C1854978.
DR   MeSH; D009190.
DR   MeSH; D010198.
//
ID   Monosomy 7 myelodysplasia and leukemia syndrome 2.
AC   DI-05982
AR   M7MLS2.
DE   A hematologic disorder manifesting in early childhood and
DE   characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic
DE   syndrome or acute myelogenous leukemia, associated with monosomy 7 in
DE   the bone marrow. Disease severity is highly variable. Inheritance is
DE   autosomal dominant with incomplete penetrance.
DR   MIM; 619041; phenotype.
DR   MedGen; CN293581.
DR   MeSH; D009190.
DR   MeSH; D010198.
//
ID   Morbid obesity and spermatogenic failure.
AC   DI-04042
AR   MOSPGF.
DE   An autosomal recessive morbid obesity syndrome characterized by
DE   hypertension, fatty liver disease, insulin resistance, and decreased
DE   sperm counts. Variable clinical manifestations are early coronary
DE   artery disease with myocardial infarction before 45 years of age, type
DE   II diabetes mellitus, and intellectual disability. Morbid obese
DE   individuals are defined as having a BMI greater than 40.
SY   MO1 syndrome.
DR   MIM; 615703; phenotype.
DR   MedGen; C3810324.
DR   MedGen; CN185305.
DR   MeSH; D007248.
DR   MeSH; D009767.
KW   KW-0550:Obesity.
//
ID   Mosaic variegated aneuploidy syndrome 1.
AC   DI-01994
AR   MVA1.
DE   A severe developmental disorder characterized by mosaic aneuploidies,
DE   predominantly trisomies and monosomies, involving multiple different
DE   chromosomes and tissues. Affected individuals typically present with
DE   severe intrauterine growth retardation and microcephaly. Eye
DE   anomalies, mild dysmorphism, variable developmental delay, and a broad
DE   spectrum of additional congenital abnormalities and medical conditions
DE   may also occur. The risk of malignancy is high, with rhabdomyosarcoma,
DE   Wilms tumor and leukemia reported in several cases.
SY   MVA syndrome.
DR   MIM; 257300; phenotype.
DR   MedGen; C1850343.
DR   MeSH; D025063.
//
ID   Mosaic variegated aneuploidy syndrome 2.
AC   DI-03206
AR   MVA2.
DE   A severe developmental disorder characterized by mosaic aneuploidies,
DE   predominantly trisomies and monosomies, involving multiple different
DE   chromosomes and tissues. Affected individuals typically present with
DE   severe intrauterine growth retardation and microcephaly. Eye
DE   anomalies, mild dysmorphism, variable developmental delay, and a broad
DE   spectrum of additional congenital abnormalities and medical conditions
DE   may also occur. The risk of malignancy is high, with rhabdomyosarcoma,
DE   Wilms tumor and leukemia reported in several cases.
DR   MIM; 614114; phenotype.
DR   MedGen; C3279843.
DR   MeSH; D025063.
//
ID   Mosaic variegated aneuploidy syndrome 3.
AC   DI-05048
AR   MVA3.
DE   A form of mosaic variegated aneuploidy syndrome, a severe disorder
DE   characterized by mosaic aneuploidies, predominantly trisomies and
DE   monosomies, involving multiple different chromosomes and tissues.
DE   Affected individuals typically present with severe intrauterine growth
DE   retardation and microcephaly. Eye anomalies, mild dysmorphism,
DE   variable developmental delay, and a broad spectrum of additional
DE   congenital abnormalities and medical conditions may also occur. The
DE   risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and
DE   leukemia reported in several cases. MVA3 inheritance is autosomal
DE   recessive.
DR   MIM; 617598; phenotype.
DR   MedGen; CN351188.
DR   MeSH; D025063.
//
ID   Mosaic variegated aneuploidy syndrome 4.
AC   DI-06560
AR   MVA4.
DE   A form of mosaic variegated aneuploidy syndrome, a severe disorder
DE   characterized by mosaic aneuploidies, predominantly trisomies and
DE   monosomies, involving multiple different chromosomes and tissues.
DE   Affected individuals typically present with severe intrauterine growth
DE   retardation and microcephaly. Eye anomalies, mild dysmorphism,
DE   variable developmental delay, and a broad spectrum of additional
DE   congenital abnormalities and medical conditions may also occur. The
DE   risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and
DE   leukemia reported in several cases. MVA4 inheritance is autosomal
DE   recessive.
DR   MIM; 620153; phenotype.
DR   MedGen; CN322564.
DR   MeSH; D025063.
//
ID   Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition.
AC   DI-06585
AR   MVA7.
DE   A form of mosaic variegated aneuploidy syndrome, a severe disorder
DE   characterized by mosaic aneuploidies, predominantly trisomies and
DE   monosomies, involving multiple different chromosomes and tissues.
DE   Affected individuals typically present with severe intrauterine growth
DE   retardation and microcephaly. Eye anomalies, mild dysmorphism,
DE   variable developmental delay, and a broad spectrum of additional
DE   congenital abnormalities and medical conditions may also occur. The
DE   risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and
DE   leukemia reported in several cases. MVA7 is an autosomal recessive
DE   form characterized by increased susceptibility to benign and malignant
DE   neoplasms beginning in early childhood. Affected individuals show
DE   dysmorphic facies and may have early developmental delay.
DR   MIM; 620189; phenotype.
DR   MedGen; CN322838.
DR   MeSH; D025063.
//
ID   Mowat-Wilson syndrome.
AC   DI-01749
AR   MOWS.
DE   A complex developmental disorder characterized by intellectual
DE   disability, delayed motor development, epilepsy, microcephaly and a
DE   wide spectrum of clinically heterogeneous features suggestive of
DE   neurocristopathies at the cephalic, cardiac, and vagal levels.
DE   Affected patients show an easily recognizable facial appearance with
DE   deep set eyes and hypertelorism, medially divergent, broad eyebrows,
DE   prominent columella, pointed chin and uplifted, notched ear lobes.
DE   Some patients manifest Hirschsprung disease.
DR   MIM; 235730; phenotype.
DR   MedGen; C1856113.
DR   MeSH; D006627.
DR   MeSH; D008607.
DR   MeSH; D008831.
KW   KW-0367:Hirschsprung disease.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Moyamoya disease 2.
AC   DI-03059
AR   MYMY2.
DE   A progressive cerebral angiopathy characterized by bilateral
DE   intracranial carotid artery stenosis and telangiectatic vessels in the
DE   region of the basal ganglia. The abnormal vessels resemble a 'puff of
DE   smoke' (moyamoya) on cerebral angiogram. Affected individuals can
DE   develop transient ischemic attacks and/or cerebral infarction, and
DE   rupture of the collateral vessels can cause intracranial hemorrhage.
DE   Hemiplegia of sudden onset and epileptic seizures constitute the
DE   prevailing presentation in childhood, while subarachnoid bleeding
DE   occurs more frequently in adults.
DR   MIM; 607151; phenotype.
DR   MedGen; C1846689.
DR   MeSH; D009072.
//
ID   Moyamoya disease 5.
AC   DI-03141
AR   MYMY5.
DE   A progressive cerebral angiopathy characterized by bilateral
DE   intracranial carotid artery stenosis and telangiectatic vessels in the
DE   region of the basal ganglia. The abnormal vessels resemble a 'puff of
DE   smoke' (moyamoya) on cerebral angiogram. Affected individuals can
DE   develop transient ischemic attacks and/or cerebral infarction, and
DE   rupture of the collateral vessels can cause intracranial hemorrhage.
DE   Hemiplegia of sudden onset and epileptic seizures constitute the
DE   prevailing presentation in childhood, while subarachnoid bleeding
DE   occurs more frequently in adults.
DR   MIM; 614042; phenotype.
DR   MedGen; C3279690.
DR   MeSH; D009072.
//
ID   Moyamoya disease 6 with or without achalasia.
AC   DI-04074
AR   MYMY6.
DE   A form of Moyamoya disease, a progressive cerebral angiopathy
DE   characterized by bilateral intracranial carotid artery stenosis and
DE   telangiectatic vessels in the region of the basal ganglia. The
DE   abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral
DE   angiogram. Affected individuals can develop transient ischemic attacks
DE   and/or cerebral infarction, and rupture of the collateral vessels can
DE   cause intracranial hemorrhage. Hemiplegia of sudden onset and
DE   epileptic seizures constitute the prevailing presentation in
DE   childhood, while subarachnoid bleeding occurs more frequently in
DE   adults. MYMY6 is characterized by severe cerebral angiopathy and onset
DE   of severe achalasia in infancy or early childhood.
SY   Moyamoya 6 with achalasia.
DR   MIM; 615750; phenotype.
DR   MedGen; C3810403.
DR   MeSH; D009072.
//
ID   Muckle-Wells syndrome.
AC   DI-00783
AR   MWS.
DE   A hereditary periodic fever syndrome characterized by fever, chronic
DE   recurrent urticaria, arthralgias, progressive sensorineural deafness,
DE   and reactive renal amyloidosis. The disease may be severe if
DE   generalized reactive amyloidosis occurs.
SY   UDA syndrome.
SY   Urticaria-deafness-amyloidosis syndrome.
DR   MIM; 191900; phenotype.
DR   MedGen; C0268390.
DR   MeSH; D056587.
KW   KW-0209:Deafness.
KW   KW-1008:Amyloidosis.
//
ID   Mucoepithelial dysplasia, hereditary.
AC   DI-05948
AR   HMD.
DE   An autosomal dominant genodermatosis mainly characterized by chronic
DE   mucosal lesions associated with keratitis, non-scarring alopecia,
DE   keratosis pilaris and perineal intertrigo.
DR   MIM; 158310; phenotype.
DR   MedGen; C1274795.
DR   MeSH; D000505.
DR   MeSH; D007642.
DR   MeSH; D012868.
//
ID   Mucolipidosis 4.
AC   DI-01998
AR   ML4.
DE   An autosomal recessive lysosomal storage disorder characterized by
DE   severe psychomotor retardation and ophthalmologic abnormalities,
DE   including corneal opacity, retinal degeneration and strabismus.
DE   Storage bodies of lipids and water-soluble substances are seen by
DE   electron microscopy in almost every cell type of the patients. Most
DE   patients are unable to speak or walk independently and reach a maximal
DE   developmental level of 1-2 years. All patients have constitutive
DE   achlorhydia associated with a secondary elevation of serum gastrin
DE   levels.
SY   MLIV.
SY   Mucolipidosis IV.
SY   Mucolipidosis type IV.
SY   Sialolipidosis.
DR   MIM; 252650; phenotype.
DR   MedGen; C0238286.
DR   MeSH; D009081.
KW   KW-0942:Mucolipidosis.
//
ID   Mucolipidosis type II.
AC   DI-01995
AR   MLII.
DE   Fatal, autosomal recessive, lysosomal storage disorder characterized
DE   by severe clinical and radiologic features, peculiar fibroblast
DE   inclusions, and no excessive mucopolysacchariduria. Congenital
DE   dislocation of the hip, thoracic deformities, hernia, and hyperplastic
DE   gums are evident soon after birth.
SY   ICD.
SY   I-cell disease.
SY   Inclusion cell disease.
DR   MIM; 252500; phenotype.
DR   MedGen; C0020725.
DR   MedGen; C2673377.
KW   KW-0942:Mucolipidosis.
//
ID   Mucolipidosis type III complementation group A.
AC   DI-01996
AR   MLIIIA.
DE   Autosomal recessive disease of lysosomal enzyme targeting. Clinically
DE   MLIII is characterized by restricted joint mobility, skeletal
DE   dysplasia, and short stature. Mildly coarsened facial features and
DE   thickening of the skin have been described. Cardiac valvular disease
DE   and corneal clouding may also occur. Half of the reported patients
DE   show learning disabilities or intellectual disability.
SY   Cariant pseudo-Hurler polydystrophy.
DR   MIM; 252600; phenotype.
DR   MedGen; C0033788.
DR   MedGen; C2673375.
KW   KW-0942:Mucolipidosis.
//
ID   Mucolipidosis type III complementation group C.
AC   DI-01997
AR   MLIIIC.
DE   Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike
DE   the related diseases, mucolipidosis II and IIIA, the enzyme affected
DE   in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full
DE   transferase activity on synthetic substrates but lacks activity on
DE   lysosomal hydrolases. Typical clinical findings include stiffness of
DE   the hands and shoulders, claw-hand deformity, scoliosis, short
DE   stature, coarse facies, and mild intellectual disability.
DE   Radiographically, severe dysostosis multiplex of the hip is
DE   characteristic and frequently disabling. The clinical diagnosis can be
DE   confirmed by finding elevated serum lysosomal enzyme levels and/or
DE   decreased lysosomal enzyme levels in cultured fibroblasts.
SY   Variant pseudo-Hurler polydystrophy.
DR   MIM; 252605; phenotype.
DR   MedGen; C1854896.
KW   KW-0942:Mucolipidosis.
//
ID   Mucopolysaccharidosis 10.
AC   DI-06314
AR   MPS10.
DE   A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE   characterized by defective degradation of glycosaminoglycans,
DE   resulting in their excessive accumulation and secretion. The diseases
DE   are progressive and often display a wide spectrum of clinical
DE   severity. MPS10 is an autosomal recessive childhood-onset disorder.
DE   Clinical features include disproportionate short-trunk short stature
DE   and skeletal, cardiac, and ophthalmologic abnormalities.
SY   ARSK deficiency.
SY   Arylsulfatase K deficiency.
SY   Mucopolysaccharidosis, type X.
DR   MIM; 619698; phenotype.
DR   MedGen; CN305743.
DR   MeSH; D009083.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 1H.
AC   DI-00770
AR   MPS1H.
DE   A severe form of mucopolysaccharidosis type 1, a rare lysosomal
DE   storage disease characterized by progressive physical deterioration
DE   with urinary excretion of dermatan sulfate and heparan sulfate.
DE   Patients with MPS1H usually present, within the first year of life, a
DE   combination of hepatosplenomegaly, skeletal deformities, corneal
DE   clouding and severe intellectual disability. Obstructive airways
DE   disease, respiratory infection and cardiac complications usually
DE   result in death before 10 years of age.
SY   Alpha-L-iduronidase deficiency.
SY   Hurler's syndrome.
SY   Hurler syndrome.
SY   MPS IH.
SY   MPS-IH.
SY   Mucopolysaccharidosis type IH.
DR   MIM; 607014; phenotype.
DR   MedGen; C0086795.
DR   MeSH; D008059.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 1H/S.
AC   DI-00771
AR   MPS1H/S.
DE   A form of mucopolysaccharidosis type 1, a rare lysosomal storage
DE   disease characterized by progressive physical deterioration with
DE   urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S
DE   represents an intermediate phenotype of the MPS1 clinical spectrum. It
DE   is characterized by relatively little neurological involvement, but
DE   most of the somatic symptoms described for severe MPS1 develop in the
DE   early to mid-teens, causing considerable loss of mobility.
SY   Alpha-L-iduronidase deficiency.
SY   Hurler-Scheie syndrome.
SY   MPS-IH/S.
SY   Mucopolysaccharidosis type IH/S.
DR   MIM; 607015; phenotype.
DR   MedGen; C0086431.
DR   MeSH; D008059.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 1S.
AC   DI-00772
AR   MPS1S.
DE   A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage
DE   disease characterized by progressive physical deterioration with
DE   urinary excretion of dermatan sulfate and heparan sulfate. Patients
DE   with MPS1S may have little or no neurological involvement, normal
DE   stature and life span, but present development of joints stiffness,
DE   mild hepatosplenomegaly, aortic valve disease and corneal clouding.
SY   Alpha-L-iduronidase deficiency.
SY   MPS IS.
SY   MPS-IS.
SY   MPS V.
SY   Mucopolysaccharidosis type IS.
SY   Mucopolysaccharidosis type V.
SY   Scheie syndrome.
DR   MIM; 607016; phenotype.
DR   MedGen; C0026708.
DR   MeSH; D008059.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 2.
AC   DI-00773
AR   MPS2.
DE   An X-linked lysosomal storage disease characterized by intracellular
DE   accumulation of heparan sulfate and dermatan sulfate and their
DE   excretion in urine. Most children with MPS2 have a severe form with
DE   early somatic abnormalities including skeletal deformities,
DE   hepatosplenomegaly, and progressive cardiopulmonary deterioration. A
DE   prominent feature is neurological damage that presents as
DE   developmental delay and hyperactivity but progresses to intellectual
DE   disability and dementia. They die before 15 years of age, usually as a
DE   result of obstructive airway disease or cardiac failure. In contrast,
DE   those with a mild form of MPS2 may survive into adulthood, with
DE   attenuated somatic complications and often without intellectual
DE   disability.
SY   Hunter syndrome.
SY   IDS deficiency.
SY   Iduronate 2-sulfatase deficiency.
SY   MPS II.
SY   Mucopolysaccharidosis type II.
SY   SIDS deficiency.
SY   Sulfoiduronate sulfatase deficiency.
DR   MIM; 309900; phenotype.
DR   MedGen; C0026705.
DR   MeSH; D016532.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 3A.
AC   DI-00774
AR   MPS3A.
DE   A severe form of mucopolysaccharidosis type 3, an autosomal recessive
DE   lysosomal storage disease due to impaired degradation of heparan
DE   sulfate. MPS3 is characterized by severe central nervous system
DE   degeneration, but only mild somatic disease. Onset of clinical
DE   features usually occurs between 2 and 6 years; severe neurologic
DE   degeneration occurs in most patients between 6 and 10 years of age,
DE   and death occurs typically during the second or third decade of life.
DE   MPS3A is characterized by earlier onset, rapid progression of symptoms
DE   and shorter survival.
SY   Heparan sulfate sulfatase deficiency.
SY   MPS IIIA.
SY   Mucopolysaccharidosis type IIIA.
SY   Sanfilippo syndrome A.
SY   Sulfamidase deficiency.
DR   MIM; 252900; phenotype.
DR   MedGen; C0086647.
DR   MeSH; D009084.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 3B.
AC   DI-00775
AR   MPS3B.
DE   A form of mucopolysaccharidosis type 3, an autosomal recessive
DE   lysosomal storage disease due to impaired degradation of heparan
DE   sulfate. MPS3 is characterized by severe central nervous system
DE   degeneration, but only mild somatic disease. Onset of clinical
DE   features usually occurs between 2 and 6 years; severe neurologic
DE   degeneration occurs in most patients between 6 and 10 years of age,
DE   and death occurs typically during the second or third decade of life.
SY   MPS IIIB.
SY   Mucopolysaccharidosis type IIIB.
SY   N-acetyl-alpha-D-glucosaminidase deficiency.
SY   NAGLU deficiency.
SY   Sanfilippo syndrome B.
DR   MIM; 252920; phenotype.
DR   MedGen; C0086648.
DR   MeSH; D009084.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 3C.
AC   DI-00776
AR   MPS3C.
DE   A form of mucopolysaccharidosis type 3, an autosomal recessive
DE   lysosomal storage disease due to impaired degradation of heparan
DE   sulfate. MPS3 is characterized by severe central nervous system
DE   degeneration, but only mild somatic disease. Onset of clinical
DE   features usually occurs between 2 and 6 years; severe neurologic
DE   degeneration occurs in most patients between 6 and 10 years of age,
DE   and death occurs typically during the second or third decade of life.
SY   Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency.
SY   MPS IIIC.
SY   Mucopolysaccharidosis type IIIC.
SY   Sanfilippo syndrome C.
DR   MIM; 252930; phenotype.
DR   MedGen; C0086649.
DR   MeSH; D009084.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 3D.
AC   DI-00777
AR   MPS3D.
DE   A form of mucopolysaccharidosis type 3, an autosomal recessive
DE   lysosomal storage disease due to impaired degradation of heparan
DE   sulfate. MPS3 is characterized by severe central nervous system
DE   degeneration, but only mild somatic disease. Onset of clinical
DE   features usually occurs between 2 and 6 years; severe neurologic
DE   degeneration occurs in most patients between 6 and 10 years of age,
DE   and death occurs typically during the second or third decade of life.
SY   MPS IIID.
SY   Mucopolysaccharidosis type IIID.
SY   N-acetylglucosamine-6-sulfatase deficiency.
SY   Sanfilippo D syndrome.
DR   MIM; 252940; phenotype.
DR   MedGen; C0086650.
DR   MeSH; D009084.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 4A.
AC   DI-00778
AR   MPS4A.
DE   A form of mucopolysaccharidosis type 4, an autosomal recessive
DE   lysosomal storage disease characterized by intracellular accumulation
DE   of keratan sulfate and chondroitin-6-sulfate. Key clinical features
DE   include short stature, skeletal dysplasia, dental anomalies, and
DE   corneal clouding. Intelligence is normal and there is no direct
DE   central nervous system involvement, although the skeletal changes may
DE   result in neurologic complications. There is variable severity, but
DE   patients with the severe phenotype usually do not survive past the
DE   second or third decade of life.
SY   Galactosamine-6-sulfatase deficiency.
SY   GALNS deficiency.
SY   Morquio's syndrome A.
SY   Morquio A disease.
SY   Morquio syndrome A.
SY   MPS IVA.
SY   Mucopolysaccharidosis type IVA.
DR   MIM; 253000; phenotype.
DR   MedGen; C0086651.
DR   MeSH; D009085.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 4B.
AC   DI-00779
AR   MPS4B.
DE   A form of mucopolysaccharidosis type 4, an autosomal recessive
DE   lysosomal storage disease characterized by intracellular accumulation
DE   of keratan sulfate and chondroitin-6-sulfate. Key clinical features
DE   include short stature, skeletal dysplasia, dental anomalies, and
DE   corneal clouding. Intelligence is normal and there is no direct
DE   central nervous system involvement, although the skeletal changes may
DE   result in neurologic complications. There is variable severity, but
DE   patients with the severe phenotype usually do not survive past the
DE   second or third decade of life.
SY   Morquio's syndrome B.
SY   Morquio syndrome B.
SY   MPS IVB.
SY   MPS-IVB.
SY   Mucopolysaccharidosis type IVB.
DR   MIM; 253010; phenotype.
DR   MedGen; C0086652.
DR   MeSH; D009085.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 6.
AC   DI-00780
AR   MPS6.
DE   A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE   characterized by defective degradation of glycosaminoglycans,
DE   resulting in their excessive accumulation and secretion. The diseases
DE   are progressive and often display a wide spectrum of clinical
DE   severity. MPS6 is an autosomal recessive form characterized by
DE   intracellular accumulation of dermatan sulfate. Clinical features can
DE   include abnormal growth, short stature, stiff joints, skeletal
DE   malformations, corneal clouding, hepatosplenomegaly, and cardiac
DE   abnormalities.
SY   ARSB deficiency.
SY   Arylsulfatase B deficiency.
SY   Maroteaux-Lamy syndrome.
SY   MPS VI.
SY   Mucopolysaccharidosis type VI.
SY   N-acetylgalactosamine-4-sulfatase deficiency.
DR   MIM; 253200; phenotype.
DR   MedGen; C0026709.
DR   MedGen; CN068451.
DR   MedGen; CN068452.
DR   MedGen; CN068453.
DR   MeSH; D009087.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 7.
AC   DI-00781
AR   MPS7.
DE   A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE   characterized by defective degradation of glycosaminoglycans,
DE   resulting in their excessive accumulation and secretion. The diseases
DE   are progressive and often display a wide spectrum of clinical
DE   severity. MPS7 is an autosomal recessive form with a highly variable
DE   phenotype, ranging from severe lethal hydrops fetalis to mild forms
DE   with survival into adulthood. Most patients with the intermediate
DE   phenotype show hepatomegaly, skeletal anomalies, coarse facies, and
DE   variable degrees of mental impairment.
SY   Beta-glucuronidase deficiency.
SY   GUSB deficiency.
SY   MPS VII.
SY   Mucopolysaccharidosis type VII.
SY   Sly syndrome.
DR   MIM; 253220; phenotype.
DR   MedGen; C0085132.
DR   MeSH; D016538.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis 9.
AC   DI-00782
AR   MPS9.
DE   A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE   characterized by defective degradation of glycosaminoglycans,
DE   resulting in their excessive accumulation and secretion. The diseases
DE   are progressive and often display a wide spectrum of clinical
DE   severity. MPS9 is an autosomal recessive form characterized by high
DE   hyaluronan concentration in the serum. Clinical features include
DE   periarticular soft tissue masses, mild short stature and acetabular
DE   erosions, and absence of neurological or visceral involvement.
SY   Hyaluronidase deficiency.
SY   MPS IX.
SY   Mucopolysaccharidosis type IX.
DR   MIM; 601492; phenotype.
DR   MedGen; C1291490.
DR   MeSH; D009083.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Mucopolysaccharidosis-plus syndrome.
AC   DI-04927
AR   MPSPS.
DE   A form of mucopolysaccharidosis, a group of lysosomal storage diseases
DE   characterized by defective degradation of glycosaminoglycans,
DE   resulting in their excessive accumulation and secretion. The diseases
DE   are progressive and often display a wide spectrum of clinical
DE   severity. MPSPS is an autosomal recessive form characterized by coarse
DE   facial features, dysostosis multiplex, hepatosplenomegaly, respiratory
DE   difficulties, intellectual disability, developmental delay, pyramidal
DE   signs, severe chronic anemia, renal involvement and cardiac defects.
DE   Laboratory analyses show proteinuria with glomerular foamy cells,
DE   excess secretion of urinary glycosaminoglycans, and extremely high
DE   levels of plasma heparan sulphate. Disease onset is in infancy. Most
DE   patients die in the first years of life due to cardiorespiratory
DE   failure.
DR   MIM; 617303; phenotype.
DR   MedGen; CN239958.
DR   MeSH; D009083.
KW   KW-0510:Mucopolysaccharidosis.
//
ID   Muenke syndrome.
AC   DI-00784
AR   MNKS.
DE   A condition characterized by premature closure of coronal suture of
DE   skull during development (coronal craniosynostosis), which affects the
DE   shape of the head and face. It may be uni- or bilateral. When
DE   bilateral, it is characterized by a skull with a small antero-
DE   posterior diameter (brachycephaly), often with a decrease in the depth
DE   of the orbits and hypoplasia of the maxillae. Unilateral closure of
DE   the coronal sutures leads to flattening of the orbit on the involved
DE   side (plagiocephaly). The intellect is normal. In addition to coronal
DE   craniosynostosis some affected individuals show skeletal abnormalities
DE   of hands and feet, sensorineural hearing loss, intellectual disability
DE   and respiratory insufficiency.
SY   FGFR3-associated coronal synostosis.
SY   FGFR3-related craniosynostosis.
SY   FGFR3-related isolated coronal synostosis.
SY   Muenke non-syndromic coronal craniosynostosis.
DR   MIM; 602849; phenotype.
DR   MedGen; C1864436.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Muir-Torre syndrome.
AC   DI-02000
AR   MRTES.
DE   Rare autosomal dominant disorder characterized by sebaceous neoplasms
DE   and visceral malignancy.
SY   MTS.
DR   MIM; 158320; phenotype.
DR   MedGen; C1321489.
//
ID   Mulibrey nanism.
AC   DI-02001
AR   MUL.
DE   An autosomal recessive growth disorder characterized by severe growth
DE   failure of prenatal onset, constrictive pericardium and progressive
DE   cardiomyopathy, facial dysmorphism, and failure of sexual maturation.
DE   Additional clinical features include hepatomegaly, muscle hypotonia,
DE   J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia
DE   of various endocrine glands, insulin resistance with type 2 diabetes,
DE   and an increased risk for Wilms' tumor.
SY   Muscle-liver-brain-eye nanism.
SY   Perheentupa syndrome.
SY   Pericardial constriction and growth failure.
DR   MIM; 253250; phenotype.
DR   MedGen; C0524582.
DR   MeSH; D050336.
KW   KW-0242:Dwarfism.
//
ID   Mullegama-Klein-Martinez syndrome.
AC   DI-05502
AR   MKMS.
DE   An X-linked neurodevelopmental disorder with variable features
DE   including intellectual deficiency, microcephaly, microtia, hearing
DE   loss, developmental delay, dysmorphic features, language delay,
DE   congenital heart defect, and clinodactyly of the 5th finger.
SY   NEDXCF.
SY   Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.
DR   MIM; 301022; phenotype.
DR   MedGen; CN258252.
DR   MeSH; D000015.
DR   MeSH; D065886.
//
ID   Mullerian aplasia and hyperandrogenism.
AC   DI-01999
AR   MULLAPL.
DE   A disorder of sex development. Affected females manifest dysgenesis of
DE   Mullerian duct derivatives absent or rudimentary uterus and vagina,
DE   functional ovaries, primary amenorrhea, hyperandrogenism and
DE   hirsutism.
SY   Mullerian duct failure and hyperandrogenism.
DR   MIM; 158330; phenotype.
DR   MedGen; C2675014.
DR   MeSH; D058489.
//
ID   Multicentric carpotarsal osteolysis syndrome.
AC   DI-03436
AR   MCTO.
DE   A rare skeletal disorder, usually presenting in early childhood with a
DE   clinical picture mimicking juvenile rheumatoid arthritis. Progressive
DE   destruction of the carpal and tarsal bone usually occurs and other
DE   bones may also be involved. Chronic renal failure is a frequent
DE   component of the syndrome. Intellectual disability and minor facial
DE   anomalies have been noted in some patients.
SY   Autosomal dominant multicentric osteolysis.
SY   Hereditary osteolysis of carpal bones with or without nephropathy.
DR   MIM; 166300; phenotype.
DR   MedGen; C2674705.
DR   MeSH; D010014.
//
ID   Multicentric osteolysis, nodulosis, and arthropathy.
AC   DI-02374
AR   MONA.
DE   An autosomal recessive syndrome characterized by severe multicentric
DE   osteolysis with predominant involvement of the hands and feet.
DE   Additional features include coarse face, corneal opacities, patches of
DE   thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.
SY   Al-Aqeel Sewairi syndrome.
SY   Hereditary multicentric osteolysis.
SY   NAO syndrome.
SY   Nodulosis-arthropathy-osteolysis syndrome.
SY   Torg syndrome.
SY   Torg-Winchester syndrome.
DR   MIM; 259600; phenotype.
DR   MedGen; C1850155.
DR   MeSH; D010014.
//
ID   Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly.
AC   DI-05054
AR   MARCH.
DE   An autosomal recessive, congenital disease characterized by severe
DE   hydranencephaly with multinucleated neurons, renal aplasia or
DE   dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly
DE   leading to replacement of the cerebral hemispheres with a fluid-filled
DE   cyst. MARCH results in death in utero or in the perinatal period.
SY   Hydranencephaly with renal aplasia-dysplasia.
DR   MIM; 236500; phenotype.
DR   MedGen; C1856053.
DR   MeSH; D006832.
DR   MeSH; D007674.
//
ID   Multiple congenital anomalies-hypotonia-seizures syndrome 1.
AC   DI-03203
AR   MCAHS1.
DE   An autosomal recessive disorder characterized by neonatal hypotonia,
DE   lack of psychomotor development, seizures, dysmorphic features, and
DE   variable congenital anomalies involving the cardiac, urinary, and
DE   gastrointestinal systems. Most affected individuals die before 3 years
DE   of age.
SY   Glycosylphosphatidylinositol biosynthesis defect 3.
SY   GPIBD3.
DR   MIM; 614080; phenotype.
DR   MedGen; C3279775.
DR   MedGen; CN077657.
DR   MeSH; D000015.
KW   KW-0887:Epilepsy.
//
ID   Multiple congenital anomalies-hypotonia-seizures syndrome 2.
AC   DI-03403
AR   MCAHS2.
DE   An X-linked recessive developmental disorder characterized by
DE   dysmorphic features, neonatal hypotonia, myoclonic seizures, and
DE   variable congenital anomalies involving the central nervous, cardiac,
DE   and urinary systems. Most affected individuals die in infancy.
SY   EIEE20.
SY   Epileptic encephalopathy, early infantile, 20.
SY   FCCS.
SY   Ferro-cerebro-cutaneous syndrome.
SY   Glycosylphosphatidylinositol biosynthesis defect 4.
SY   GPIBD4.
DR   MIM; 300868; phenotype.
DR   MedGen; C3275508.
DR   MeSH; D000015.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Multiple congenital anomalies-hypotonia-seizures syndrome 3.
AC   DI-03879
AR   MCAHS3.
DE   An autosomal recessive syndrome characterized by distinct facial
DE   features, intellectual disability, hypotonia and seizures, in
DE   combination with abnormal skeletal, endocrine, and ophthalmologic
DE   findings including impaired vision, as well as abnormal motility of
DE   the eyes.
SY   Glycosylphosphatidylinositol biosynthesis defect 7.
SY   GPIBD7.
SY   M syndrome.
DR   MIM; 615398; phenotype.
DR   MedGen; C3809356.
DR   MedGen; CN179948.
DR   MeSH; D000015.
KW   KW-0887:Epilepsy.
//
ID   Multiple congenital anomalies-hypotonia-seizures syndrome 4.
AC   DI-05640
AR   MCAHS4.
DE   An autosomal recessive syndrome characterized by onset of refractory
DE   seizures in the first months of life. Additional clinical features
DE   include severe global developmental delay, dysmorphic facial features,
DE   and skeletal, renal and ophthalmic anomalies. At the cellular level,
DE   the disorder is caused by a defect in the synthesis of
DE   glycosylphosphatidylinositol (GPI).
SY   EIEE77.
SY   Epileptic encephalopathy, early infantile, 77.
SY   Glycosylphosphatidylinositol biosynthesis defect 19.
SY   GPIBD19.
DR   MIM; 618548; phenotype.
DR   MedGen; CN262219.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Multiple congenital anomalies-neurodevelopmental syndrome, X-linked.
AC   DI-06024
AR   MCAND.
DE   An X-linked recessive, congenital disorder characterized by central
DE   nervous system, craniofacial, cardiac, skeletal, and genitourinary
DE   anomalies. Clinical features include poor growth, short stature,
DE   global developmental delay, impaired intellectual development,
DE   microcephaly, hydrocephalus, hypotonia, congenital heart defects,
DE   hypospadias, and other variable abnormalities. Brain imaging typically
DE   shows ventriculomegaly and thin corpus callosum. The severity of the
DE   disorder is highly variable, ranging from death in early infancy to
DE   survival into the second or third decade.
SY   Linkage-specific deubiquitylation deficiency-induced embryonic defects.
SY   LINKED syndrome.
DR   MIM; 301056; phenotype.
DR   MedGen; CN295264.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Multiple endocrine neoplasia 4.
AC   DI-02004
AR   MEN4.
DE   Multiple endocrine neoplasia (MEN) syndromes are inherited cancer
DE   syndromes of the thyroid. MEN4 is a MEN-like syndrome with a
DE   phenotypic overlap of both MEN1 and MEN2.
DR   MIM; 610755; phenotype.
DR   MedGen; C1970712.
//
ID   Multiple epiphyseal dysplasia 1.
AC   DI-00785
AR   EDM1.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal.
DR   MIM; 132400; phenotype.
DR   MedGen; C1838280.
DR   MedGen; C1851537.
DR   MedGen; C1851538.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia 2.
AC   DI-00786
AR   EDM2.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal.
DR   MIM; 600204; phenotype.
DR   MedGen; C1838429.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia 3.
AC   DI-00787
AR   EDM3.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal.
DR   MIM; 600969; phenotype.
DR   MedGen; C1832998.
DR   MedGen; C3152083.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia 4.
AC   DI-00788
AR   EDM4.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal. Multiple epiphyseal dysplasia
DE   type 4 is a recessively inherited form, characterized by early
DE   childhood-onset hip dysplasia and recurrent patella dislocation. Short
DE   stature is not frequent.
DR   MIM; 226900; phenotype.
DR   MedGen; C1847593.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia 5.
AC   DI-00789
AR   EDM5.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal. Multiple epiphyseal dysplasia
DE   type 5 is relatively mild and clinically variable. It is primarily
DE   characterized by delayed and irregular ossification of the epiphyses
DE   and early-onset osteoarthritis.
DR   MIM; 607078; phenotype.
DR   MedGen; C1846843.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia 6.
AC   DI-01355
AR   EDM6.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. Radiological
DE   examination of the skeleton shows delayed, irregular mineralization of
DE   the epiphyseal ossification centers and of the centers of the carpal
DE   and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized
DE   into the more severe Fairbank and the milder Ribbing types. The
DE   Fairbank type is characterized by shortness of stature, short and
DE   stubby fingers, small epiphyses in several joints, including the knee,
DE   ankle, hand, and hip. The Ribbing type is confined predominantly to
DE   the hip joints and is characterized by hands that are normal and
DE   stature that is normal or near-normal.
DR   MIM; 614135; phenotype.
DR   MedGen; CN071420.
DR   MeSH; D010009.
//
ID   Multiple epiphyseal dysplasia with myopia and conductive deafness.
AC   DI-00790
AR   EDMMD.
DE   A generalized skeletal dysplasia associated with significant
DE   morbidity. Joint pain, joint deformity, waddling gait, and short
DE   stature are the main clinical signs and symptoms. EDMMD is an
DE   autosomal dominant disorder characterized by epiphyseal dysplasia
DE   associated with progressive myopia, retinal thinning, crenated
DE   cataracts, conductive deafness.
DR   MIM; 132450; phenotype.
DR   MedGen; C1851536.
DR   MeSH; D010009.
//
ID   Multiple familial trichoepithelioma 1.
AC   DI-02007
AR   MFT1.
DE   Autosomal dominant dermatosis characterized by the presence of many
DE   skin tumors predominantly on the face. Since histologic examination
DE   shows dermal aggregates of basaloid cells with connection to or
DE   differentiation toward hair follicles, this disorder has been thought
DE   to represent a benign hamartoma of the pilosebaceous apparatus.
DE   Trichoepitheliomas can degenerate into basal cell carcinoma.
SY   Brooke-Fordyce trichoepitheliomas.
SY   EAC.
SY   Epithelioma adenoides cysticum of Brooke.
SY   Hereditary multiple benign cystic epithelioma.
DR   MIM; 601606; phenotype.
DR   MedGen; C1275122.
//
ID   Multiple fibroadenomas of the breast.
AC   DI-03981
AR   MFAB.
DE   A benign breast disease marked by lobuloalveolar growth with
DE   abnormally high proliferation of the epithelium, and characterized by
DE   the presence of more than 3 fibroadenomas in one breast. Fibroadenomas
DE   are adenomas containing fibrous tissue.
DR   MIM; 615554; phenotype.
DR   MedGen; C3809918.
DR   MedGen; CN182243.
DR   MeSH; D018226.
//
ID   Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects.
AC   DI-03269
AR   JDSCD.
DE   An autosomal recessive disease characterized by dysmorphic facies,
DE   bilateral dislocations of the elbows, hips, and knees, clubfeet, and
DE   short stature, as well as cardiovascular defects.
SY   Autosomal recessive Larsen syndrome.
SY   Larsen-like syndrome.
SY   Larsen-like syndrome B3GAT3 type.
DR   MIM; 245600; phenotype.
DR   MedGen; C1855536.
DR   MedGen; C3278404.
DR   MeSH; D000015.
DR   MeSH; D004204.
//
ID   Multiple mitochondrial dysfunctions syndrome 1.
AC   DI-03293
AR   MMDS1.
DE   A severe disorder of systemic energy metabolism, resulting in
DE   weakness, respiratory failure, lack of neurologic development, lactic
DE   acidosis, hyperglycinemia and early death. Some patients show failure
DE   to thrive, pulmonary hypertension, hypotonia and irritability.
DE   Biochemical features include severe combined deficiency of the 2-
DE   oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE   in activity of mitochondrial respiratory chain complexes.
SY   MMDS.
DR   MIM; 605711; phenotype.
DR   MedGen; C1854052.
DR   MedGen; C3276432.
DR   MeSH; D028361.
//
ID   Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.
AC   DI-03294
AR   MMDS2.
DE   A severe disorder of systemic energy metabolism, resulting in
DE   weakness, respiratory failure, lack of neurologic development, lactic
DE   acidosis, hyperglycinemia and early death. Some patients show failure
DE   to thrive, pulmonary hypertension, hypotonia and irritability.
DE   Biochemical features include severe combined deficiency of the 2-
DE   oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE   in activity of mitochondrial respiratory chain complexes.
DR   MIM; 614299; phenotype.
DR   MedGen; C3280378.
DR   MeSH; D028361.
//
ID   Multiple mitochondrial dysfunctions syndrome 3.
AC   DI-03800
AR   MMDS3.
DE   A severe disorder of systemic energy metabolism, resulting in
DE   weakness, respiratory failure, lack of neurologic development, lactic
DE   acidosis, hyperglycinemia and early death. Some patients show failure
DE   to thrive, pulmonary hypertension, hypotonia and irritability.
DE   Biochemical features include severe combined deficiency of the 2-
DE   oxoacid dehydrogenases, defective lipoic acid synthesis and reduction
DE   in activity of mitochondrial respiratory chain complexes.
DR   MIM; 615330; phenotype.
DR   MedGen; C3809165.
DR   MedGen; CN178072.
DR   MeSH; D028361.
//
ID   Multiple mitochondrial dysfunctions syndrome 4.
AC   DI-04429
AR   MMDS4.
DE   A severe disorder of systemic energy metabolism, resulting in
DE   weakness, respiratory failure, lack of neurologic development, lactic
DE   acidosis, hyperglycinemia and early death.
DR   MIM; 616370; phenotype.
DR   MedGen; CN230442.
DR   MeSH; D028361.
//
ID   Multiple mitochondrial dysfunctions syndrome 5.
AC   DI-05070
AR   MMDS5.
DE   An autosomal recessive, severe disorder characterized by early onset
DE   neurological deterioration, seizures, cerebral and cerebellar
DE   leukodystrophy, dysmyelination, cortical migrational abnormalities,
DE   lactic acidosis and early demise.
DR   MIM; 617613; phenotype.
DR   MedGen; CN388855.
DR   MeSH; D028361.
//
ID   Multiple mitochondrial dysfunctions syndrome 6.
AC   DI-05241
AR   MMDS6.
DE   An autosomal recessive, neurodegenerative disorder characterized by
DE   basal ganglia lesions, cerebellar atrophy, and neurologic regression
DE   in the first year of life. Common features include truncal hypotonia,
DE   lack of independent ambulation, poor speech, intellectual disability,
DE   and motor abnormalities, such as ataxia, dystonia, and spasticity.
DR   MIM; 617954; phenotype.
DR   MedGen; CN244567.
DR   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
//
ID   Multiple mitochondrial dysfunctions syndrome 7.
AC   DI-06705
AR   MMDS7.
DE   An autosomal recessive disorder biochemically characterized by glycine
DE   accumulation in body fluids, including the cerebrospinal fluid, with
DE   an elevated cerebrospinal fluid/plasma glycine ratio. The broad
DE   clinical spectrum ranges from neonatal fatal glycine encephalopathy to
DE   an attenuated phenotype of developmental delay, limited verbal
DE   communication, behavioral problems, seizures and variable movement
DE   problems. Death in infancy or early childhood may occur.
DR   MIM; 620423; phenotype.
DR   MedGen; CN372213.
DR   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
//
ID   Multiple myeloma.
AC   DI-02700
AR   MM.
DE   A malignant tumor of plasma cells usually arising in the bone marrow
DE   and characterized by diffuse involvement of the skeletal system,
DE   hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications
DE   of multiple myeloma are bone pain, hypercalcemia, renal failure and
DE   spinal cord compression. The aberrant antibodies that are produced
DE   lead to impaired humoral immunity and patients have a high prevalence
DE   of infection. Amyloidosis may develop in some patients. Multiple
DE   myeloma is part of a spectrum of diseases ranging from monoclonal
DE   gammopathy of unknown significance (MGUS) to plasma cell leukemia.
DR   MIM; 254500; phenotype.
DR   MedGen; C0026764.
DR   MedGen; C0268381.
DR   MeSH; D009101.
//
ID   Multiple neoplasia 2A.
AC   DI-02008
AR   MEN2A.
DE   The most frequent form of medullary thyroid cancer (MTC). It is an
DE   inherited cancer syndrome characterized by MTC, phaeochromocytoma
DE   and/or hyperparathyroidism.
SY   MEN2.
SY   Multiple neoplasia type 2.
DR   MIM; 171400; phenotype.
DR   MedGen; C0025268.
//
ID   Multiple neoplasia 2B.
AC   DI-02009
AR   MEN2B.
DE   Uncommon inherited cancer syndrome characterized by predisposition to
DE   MTC and phaeochromocytoma which is associated with marfanoid habitus,
DE   mucosal neuromas, skeletal and ophthalmic abnormalities, and
DE   ganglioneuromas of the intestine tract. Then the disease progresses
DE   rapidly with the development of metastatic MTC and a pheochromocytome
DE   in 50% of cases.
DR   MIM; 162300; phenotype.
DR   MedGen; C0025269.
//
ID   Multiple pterygium syndrome, Escobar variant.
AC   DI-01536
AR   EVMPS.
DE   Non-lethal form of arthrogryposis multiplex congenita. It is an
DE   autosomal recessive condition characterized by excessive webbing
DE   (pterygia), congenital contractures (arthrogryposis), and scoliosis.
DE   Variable other features include intrauterine death, congenital
DE   respiratory distress, short stature, faciocranial dysmorphism, ptosis,
DE   low-set ears, arachnodactyly and cryptorchism in males. Congenital
DE   contractures are common and may be caused by reduced fetal movements
DE   at sensitive times of development. Possible causes of decreased fetal
DE   mobility include space constraints such as oligohydramnion, drugs,
DE   metabolic conditions or neuromuscular disorders including myasthenia
DE   gravis.
SY   Escobar syndrome.
SY   Multiple pterygium syndrome.
SY   Multiple pterygium syndrome, non-lethal type.
SY   Nonlethal type multiple pterygium syndrome.
SY   Pterygium colli syndrome.
SY   Pterygium syndrome.
SY   Pterygium universale.
DR   MIM; 265000; phenotype.
DR   MedGen; CN031762.
//
ID   Multiple pterygium syndrome, lethal type.
AC   DI-01895
AR   LMPS.
DE   Multiple pterygia are found infrequently in children with
DE   arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal
DE   multiple pterygium syndrome there is intrauterine growth retardation,
DE   multiple pterygia, and flexion contractures causing severe
DE   arthrogryposis and fetal akinesia. Subcutaneous edema can be severe,
DE   causing fetal hydrops with cystic hygroma and lung hypoplasia.
DE   Oligohydramnios and facial anomalies are frequent.
DR   MIM; 253290; phenotype.
DR   MedGen; C1854678.
//
ID   Multiple sclerosis.
AC   DI-02604
AR   MS.
DE   A multifactorial, inflammatory, demyelinating disease of the central
DE   nervous system. Sclerotic lesions are characterized by perivascular
DE   infiltration of monocytes and lymphocytes and appear as indurated
DE   areas in pathologic specimens (sclerosis in plaques). The pathological
DE   mechanism is regarded as an autoimmune attack of the myelin sheath,
DE   mediated by both cellular and humoral immunity. Clinical
DE   manifestations include visual loss, extra-ocular movement disorders,
DE   paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE   ataxia and bladder dysfunction. Genetic and environmental factors
DE   influence susceptibility to the disease.
DR   MIM; 126200; phenotype.
DR   MedGen; C1868685.
DR   MeSH; D009103.
//
ID   Multiple sclerosis 3.
AC   DI-02605
AR   MS3.
DE   A multifactorial, inflammatory, demyelinating disease of the central
DE   nervous system. Sclerotic lesions are characterized by perivascular
DE   infiltration of monocytes and lymphocytes and appear as indurated
DE   areas in pathologic specimens (sclerosis in plaques). The pathological
DE   mechanism is regarded as an autoimmune attack of the myelin sheath,
DE   mediated by both cellular and humoral immunity. Clinical
DE   manifestations include visual loss, extra-ocular movement disorders,
DE   paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE   ataxia and bladder dysfunction. Genetic and environmental factors
DE   influence susceptibility to the disease.
DR   MIM; 612595; phenotype.
DR   MedGen; C2675477.
DR   MeSH; D009103.
//
ID   Multiple sclerosis 5.
AC   DI-03521
AR   MS5.
DE   A multifactorial, inflammatory, demyelinating disease of the central
DE   nervous system. Sclerotic lesions are characterized by perivascular
DE   infiltration of monocytes and lymphocytes and appear as indurated
DE   areas in pathologic specimens (sclerosis in plaques). The pathological
DE   mechanism is regarded as an autoimmune attack of the myelin sheath,
DE   mediated by both cellular and humoral immunity. Clinical
DE   manifestations include visual loss, extra-ocular movement disorders,
DE   paresthesias, loss of sensation, weakness, dysarthria, spasticity,
DE   ataxia and bladder dysfunction. Genetic and environmental factors
DE   influence susceptibility to the disease.
DR   MIM; 614810; phenotype.
DR   MedGen; C3553728.
DR   MedGen; CN143709.
DR   MeSH; D009103.
//
ID   Multiple self-healing squamous epithelioma.
AC   DI-03159
AR   MSSE.
DE   A disorder characterized by multiple skin tumors that undergo
DE   spontaneous regression. Tumors appear most often on sun-exposed
DE   regions, are locally invasive, and undergo spontaneous resolution over
DE   a period of months leaving pitted scars.
SY   ESS1.
SY   Ferguson-Smith disease.
SY   Ferguson-Smith type epithelioma.
SY   Self-healing squamous epithelioma type 1.
DR   MIM; 132800; phenotype.
DR   MedGen; C0546476.
DR   MeSH; D007636.
//
ID   Multiple sulfatase deficiency.
AC   DI-00791
AR   MSD.
DE   A clinically and biochemically heterogeneous disorder caused by the
DE   simultaneous impairment of all sulfatases, due to defective post-
DE   translational modification and activation. It combines features of
DE   individual sulfatase deficiencies such as metachromatic
DE   leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata,
DE   hydrocephalus, ichthyosis, neurologic deterioration and developmental
DE   delay.
SY   Mucosulfatidosis.
SY   Sulfatidosis juvenile Austin type.
DR   MIM; 272200; phenotype.
DR   MedGen; C0268263.
DR   MedGen; C1720864.
DR   MeSH; D052517.
KW   KW-0478:Metachromatic leukodystrophy.
KW   KW-0977:Ichthyosis.
//
ID   Multiple synostoses syndrome 1.
AC   DI-02010
AR   SYNS1.
DE   A bone disease characterized by multiple progressive joint fusions
DE   that commonly involve proximal interphalangeal, tarsal-carpal,
DE   humeroradial and cervical spine joints. Additional features can
DE   include progressive conductive deafness and facial dysmorphism.
SY   Deafness-symphalangism syndrome of Herrmann.
SY   Facioaudiosymphalangism syndrome.
SY   Symphalangism-brachydactyly syndrome.
SY   Synostoses multiple with brachydactyly.
SY   WL syndrome.
DR   MIM; 186500; phenotype.
DR   MedGen; C0342282.
DR   MeSH; D013580.
KW   KW-0209:Deafness.
//
ID   Multiple synostoses syndrome 2.
AC   DI-02011
AR   SYNS2.
DE   A bone disease characterized by multiple progressive joint fusions
DE   that commonly involve proximal interphalangeal, tarsal-carpal,
DE   humeroradial and cervical spine joints. Additional features can
DE   include progressive conductive deafness and facial dysmorphism.
DR   MIM; 610017; phenotype.
DR   MedGen; C1832708.
DR   MeSH; D013580.
//
ID   Multiple synostoses syndrome 3.
AC   DI-02564
AR   SYNS3.
DE   A bone disease characterized by multiple progressive joint fusions
DE   that commonly involve proximal interphalangeal, tarsal-carpal,
DE   humeroradial and cervical spine joints. Additional features can
DE   include progressive conductive deafness and facial dysmorphism.
DR   MIM; 612961; phenotype.
DR   MedGen; C2751826.
DR   MeSH; D013580.
//
ID   Multiple synostoses syndrome 4.
AC   DI-05210
AR   SYNS4.
DE   A bone disease characterized by multiple progressive joint fusions
DE   that commonly involve proximal interphalangeal, tarsal-carpal,
DE   humeroradial and cervical spine joints. Additional features can
DE   include progressive conductive deafness and facial dysmorphism. SYNS4
DE   inheritance is autosomal dominant.
DR   MIM; 617898; phenotype.
DR   MedGen; CN842246.
DR   MeSH; D013580.
//
ID   Multiple system atrophy 1.
AC   DI-03867
AR   MSA1.
DE   A progressive neurodegenerative disorder clinically characterized by
DE   parkinsonism, cerebellar ataxia, and autonomic, urogenital, and
DE   pyramidal dysfunction in various combinations. Pathologically, it is
DE   characterized by degeneration of striatonigral and
DE   olivopontocerebellar structures, and glial cytoplasmic inclusions that
DE   consist of abnormally phosphorylated alpha-synuclein or tau.
DR   MIM; 146500; phenotype.
DR   MedGen; C0020651.
DR   MedGen; C0037019.
DR   MedGen; C0393571.
DR   MedGen; C0393911.
DR   MedGen; C3714927.
DR   MeSH; D019578.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
//
ID   Multisystemic smooth muscle dysfunction syndrome.
AC   DI-03109
AR   MSMDS.
DE   A syndrome characterized by dysfunction of smooth muscle cells
DE   throughout the body, leading to aortic and cerebrovascular disease,
DE   fixed dilated pupils, hypotonic bladder, malrotation, and
DE   hypoperistalsis of the gut and pulmonary hypertension.
SY   Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.
DR   MIM; 613834; phenotype.
DR   MedGen; C3151201.
DR   MeSH; D014652.
DR   MeSH; D015878.
//
ID   Mungan syndrome.
AC   DI-05340
AR   MGS.
DE   An autosomal recessive disease characterized by visceral
DE   neuromyopathy, intestinal dysmotility and chronic intestinal
DE   pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a
DE   variety of cardiac valve or septal defects such as membranous
DE   ventricular septal defect, pulmonary and tricuspid valve
DE   regurgitation.
SY   Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities.
SY   Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities.
DR   MIM; 611376; phenotype.
DR   MedGen; C1969653.
DR   MeSH; D001471.
DR   MeSH; D007418.
//
ID   Muscle glycogen storage disease 0.
AC   DI-02012
AR   GSD0b.
DE   Metabolic disorder characterized by fasting hypoglycemia presenting in
DE   infancy or early childhood. The role of muscle glycogen is to provide
DE   critical energy during bursts of activity and sustained muscle work.
SY   Muscle glycogen synthase deficiency.
DR   MIM; 611556; phenotype.
DR   MedGen; C1969054.
//
ID   Muscle hypertrophy.
AC   DI-03210
AR   MSLHP.
DE   A condition characterized by increased muscle bulk and strength.
DE   Affected individuals are exceptionally strong.
DR   MIM; 614160; phenotype.
DR   MedGen; CN069079.
DR   MeSH; D006984.
DR   MeSH; D009135.
//
ID   Muscular dystrophy congenital due to integrin alpha-7 deficiency.
AC   DI-02701
AR   MDCI.
DE   A form of congenital muscular dystrophy. Patients present at birth, or
DE   within the first few months of life, with hypotonia, muscle weakness
DE   and often with joint contractures.
SY   Congenital myopathy due to integrin alpha-7 deficiency.
DR   MIM; 613204; phenotype.
DR   MedGen; C2750786.
DR   MedGen; CN187051.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy congenital LMNA-related.
AC   DI-02702
AR   MDCL.
DE   A form of congenital muscular dystrophy. Patients present at birth, or
DE   within the first few months of life, with hypotonia, muscle weakness
DE   and often with joint contractures.
DR   MIM; 613205; phenotype.
DR   MedGen; C2750785.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue.
AC   DI-04660
AR   MDRCMTT.
DE   An autosomal recessive muscular dystrophy characterized by childhood-
DE   onset of muscle weakness progressing to a severe quadriparesis.
DE   Additionally, patients have biventricular cardiac dysfunction due to
DE   dilated cardiomyopathy, and macroglossia with a small tip resulting in
DE   a triangular tongue.
SY   LGMD2W.
SY   Limb-girdle muscular dystrophy 2W.
SY   Muscular dystrophy, limb-girdle, type 2W.
DR   MIM; 616827; phenotype.
DR   MedGen; CN235330.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome.
AC   DI-06221
AR   MDHLO.
DE   An autosomal recessive disorder characterized by early-onset
DE   progressive muscle weakness, sensorineural hearing loss, and primary
DE   amenorrhea due to ovarian insufficiency. Some patients become
DE   wheelchair-bound by the second decade, whereas others have a milder
DE   phenotype and maintain independent ambulation into adulthood. Most
DE   patients have respiratory insufficiency.
DR   MIM; 619518; phenotype.
DR   MedGen; CN300442.
DR   MeSH; D006319.
DR   MeSH; D009136.
DR   MeSH; D016649.
KW   KW-0209:Deafness.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy, congenital, Davignon-Chauveau type.
AC   DI-04800
AR   MDCDC.
DE   An autosomal recessive, severe congenital muscular dystrophy
DE   characterized by neonatal onset of muscle weakness predominantly
DE   involving axial muscles, life-threatening respiratory failure, skin
DE   abnormalities and joint hyperlaxity without contractures. Muscle
DE   biopsies show multi-minicores, caps and dystrophic lesions.
DR   MIM; 617066; phenotype.
DR   MedGen; CN237803.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy, congenital, megaconial type.
AC   DI-05503
AR   MDCMC.
DE   An autosomal recessive, congenital muscular dystrophy characterized by
DE   early-onset muscle wasting, intellectual disability, and dilated
DE   cardiomyopathy in half of affected individuals. Some patients may die
DE   from cardiomyopathy in the first or second decade of life. Muscle
DE   biopsy shows peculiar enlarged mitochondria that are prevalent toward
DE   the periphery of the fibers but are sparse in the center.
SY   Muscular dystrophy, congenital, with mitochondrial structural abnormalities.
DR   MIM; 602541; phenotype.
DR   MedGen; C1865233.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy, congenital, with cataracts and intellectual disability.
AC   DI-04992
AR   MDCCAID.
DE   An autosomal recessive form of muscular dystrophy with onset in early
DE   childhood and characterized by progressive muscle weakness. Almost all
DE   patients also have early-onset cataracts and intellectual disability
DE   of varying severity. Some patients have seizures.
DR   MIM; 617404; phenotype.
DR   MedGen; CN241833.
DR   MeSH; D002386.
DR   MeSH; D008607.
DR   MeSH; D009136.
KW   KW-0898:Cataract.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-0991:Intellectual disability.
//
ID   Muscular dystrophy, congenital, with or without seizures.
AC   DI-06571
AR   MYOS.
DE   An autosomal recessive muscular dystrophy characterized by hypotonia
DE   and elevated serum creatine kinase levels apparent from birth.
DE   Patients have progressive muscle weakness, areflexia, and may develop
DE   seizures in early childhood or have abnormal epileptiform findings on
DE   electroencephalogram studies.
DR   MIM; 620166; phenotype.
DR   MedGen; CN322669.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal dominant 1.
AC   DI-03434
AR   LGMDD1.
DE   An autosomal dominant myopathy characterized by adult onset of
DE   proximal muscle weakness, beginning in the hip girdle region and later
DE   progressing to the shoulder girdle region.
SY   LGMD1D.
SY   LGMD1E.
SY   Limb-girdle muscular dystrophy 1E.
SY   Limb-girdle muscular dystrophy type 1D.
SY   MDRV.
SY   Muscular dystrophy, autosomal dominant, with rimmed vacuoles.
SY   Muscular dystrophy, limb-girdle, type 1D.
SY   Muscular dystrophy, limb-girdle, type 1E.
DR   MIM; 603511; phenotype.
DR   MedGen; C3148763.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal dominant 2.
AC   DI-04143
AR   LGMDD2.
DE   An autosomal dominant myopathy characterized by proximal muscle
DE   weakness primarily affecting the lower limbs, but also affecting the
DE   upper limbs in most patients. Affected individuals also have distal
DE   muscle weakness of the hands and lower leg muscles. The disease has
DE   generally a benign clinical course but some individuals with childhood
DE   or juvenile onset manifest severe widespread myopathy, leading to
DE   wheelchair dependency and respiratory insufficiency. Muscle biopsy
DE   shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and
DE   filamentous inclusions.
SY   LGMD1F.
SY   Limb-girdle muscular dystrophy 1F.
SY   Muscular dystrophy, limb-girdle, type 1F.
DR   MIM; 608423; phenotype.
DR   MedGen; C1842062.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal dominant 3.
AC   DI-04211
AR   LGMDD3.
DE   An autosomal dominant degenerative myopathy characterized by slowly
DE   progressive wasting and weakness of the proximal muscles of arms and
DE   legs around the pelvic or shoulder girdles, elevated creatine kinase
DE   levels and dystrophic features on muscle biopsy. LGMDD3 is
DE   characterized by a mild late-onset and is associated with progressive
DE   fingers and toes flexion limitation. Affected individuals may also
DE   develop cataracts before age 50.
SY   LGMD1G.
SY   Limb-girdle muscular dystrophy 1G.
SY   Muscular dystrophy, limb-girdle, type 1G.
DR   MIM; 609115; phenotype.
DR   MedGen; C1836765.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal dominant 4.
AC   DI-05338
AR   LGMDD4.
DE   A form of autosomal dominant limb-girdle muscular dystrophy, a
DE   myopathy characterized by proximal and/or distal muscle weakness and
DE   atrophy. The age at onset is variable and can range from the first to
DE   the sixth decade, although later onset is less common. LGMDD4 is
DE   characterized by onset of proximal muscle weakness in young adulthood,
DE   gait difficulties, increased serum creatine kinase, myalgia, and back
DE   pain. Some patients may have upper limb involvement. Disease severity
DE   and expressivity are highly variable.
SY   LGMD1I.
SY   Muscular dystrophy, limb-girdle, type 1I.
DR   MIM; 618129; phenotype.
DR   MedGen; CN253839.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 1.
AC   DI-00658
AR   LGMDR1.
DE   An autosomal recessive degenerative myopathy characterized by
DE   progressive symmetrical atrophy and weakness of the proximal limb
DE   muscles and elevated serum creatine kinase. The symptoms usually begin
DE   during the first two decades of life, and the disease gradually
DE   worsens, often resulting in loss of walking ability 10 or 20 years
DE   after onset.
SY   Calpainopathy.
SY   Leyden-Moebious muscular dystrophy.
SY   LGMD2.
SY   LGMD2A.
SY   Limb-girdle muscular dystrophy 2A.
SY   Muscular dystrophy, limb-girdle, type 2.
SY   Muscular dystrophy, limb-girdle, type 2A.
SY   Muscular dystrophy, pelvofemoral.
DR   MIM; 253600; phenotype.
DR   MedGen; C1299884.
DR   MedGen; C1869123.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 10.
AC   DI-00667
AR   LGMDR10.
DE   An autosomal recessive degenerative myopathy characterized by
DE   progressive weakness of the pelvic and shoulder girdle muscles. Severe
DE   disability is observed within 20 years of onset.
SY   LGMD2J.
SY   Limb-girdle muscular dystrophy 2J.
SY   Muscular dystrophy, limb-girdle, type 2J.
DR   MIM; 608807; phenotype.
DR   MedGen; C1837342.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 12.
AC   DI-02703
AR   LGMDR12.
DE   An autosomal recessive degenerative myopathy characterized by proximal
DE   weakness, weakness of the hip and shoulder girdles and prominent
DE   asymmetrical quadriceps femoris and biceps brachii atrophy.
SY   LGMD2L.
SY   Limb-girdle muscular dystrophy 2L.
SY   Muscular dystrophy, limb-girdle, type 2L.
DR   MIM; 611307; phenotype.
DR   MedGen; C1969785.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 17.
AC   DI-03000
AR   LGMDR17.
DE   A form of limb-girdle muscular dystrophy characterized by early
DE   childhood onset of proximal muscle weakness. Limb-girdle muscular
DE   dystrophies are characterized by proximal weakness, weakness of the
DE   hip and shoulder girdles and prominent asymmetrical quadriceps femoris
DE   and biceps brachii atrophy.
SY   LGMD2Q.
SY   Limb-girdle muscular dystrophy 2Q.
SY   Muscular dystrophy, limb-girdle, type 2Q.
DR   MIM; 613723; phenotype.
DR   MedGen; C3150989.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 18.
AC   DI-03850
AR   LGMDR18.
DE   A form of limb-girdle muscular dystrophy characterized by proximal
DE   muscle weakness with childhood onset, resulting in gait abnormalities
DE   and scapular winging. Serum creatine kinase is increased. A subset of
DE   patients may show a hyperkinetic movement disorder with chorea,
DE   ataxia, or dystonia and global developmental delay.
SY   LGMD2S.
SY   Limb-girdle muscular dystrophy 2S.
SY   Muscular dystrophy, limb-girdle, type 2S.
DR   MIM; 615356; phenotype.
DR   MedGen; C3809236.
DR   MedGen; CN178407.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 2.
AC   DI-00659
AR   LGMDR2.
DE   An autosomal recessive degenerative myopathy characterized by weakness
DE   and atrophy starting in the proximal pelvifemoral muscles, with onset
DE   in the late teens or later, massive elevation of serum creatine kinase
DE   levels and slow progression. Scapular muscle involvement is minor and
DE   not present at onset. Upper limb girdle involvement follows some years
DE   after the onset in lower limbs.
SY   LGMD2B.
SY   LGMD3.
SY   Limb-girdle muscular dystrophy 2B.
SY   Muscular dystrophy, limb-girdle, type 2B.
SY   Muscular dystrophy, limb-girdle, type 3.
DR   MIM; 253601; phenotype.
DR   MedGen; C1850889.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 21.
AC   DI-04915
AR   LGMDR21.
DE   A form of autosomal recessive limb-girdle muscular dystrophy, a
DE   degenerative myopathy characterized by slowly progressive wasting and
DE   weakness of the proximal muscles of arms and legs around the pelvic or
DE   shoulder girdles, elevated creatine kinase levels and dystrophic
DE   features on muscle biopsy. LGMDR21 is characterized by young-adult
DE   onset.
SY   LGMD2Z.
SY   Limb-girdle muscular dystrophy 2Z.
SY   Muscular dystrophy, limb-girdle, type 2Z.
DR   MIM; 617232; phenotype.
DR   MedGen; CN239490.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 23.
AC   DI-05343
AR   LGMDR23.
DE   A form of autosomal recessive limb-girdle muscular dystrophy, a
DE   myopathy characterized by proximal and/or distal muscle weakness and
DE   atrophy. The age at onset is variable and can range from the first to
DE   the sixth decade, although later onset is less common. LGMDR23 is
DE   characterized by slowly progressive proximal muscle weakness primarily
DE   affecting the lower limbs, increased serum creatine kinase, dystrophic
DE   features, gait difficulties, and white matter abnormalities on brain
DE   imaging. Age at onset generally ranges from childhood to mid-
DE   adulthood. Some patients may have additional neurologic features,
DE   including executive deficits, seizures, and peripheral neuropathy.
DR   MIM; 618138; phenotype.
DR   MedGen; CN257926.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 25.
AC   DI-04650
AR   LGMDR25.
DE   An autosomal recessive muscular disorder characterized by slowly
DE   progressive onset of proximal lower limb weakness in adulthood,
DE   syncopal episodes, and markedly increased serum creatine kinase, which
DE   can increase further after strenuous exercise.
SY   Cardiac arrhythmia with increased serum creatine kinase.
SY   CARICK.
SY   LGMD2X.
SY   Limb-girdle muscular dystrophy 2X.
SY   Muscular dystrophy, limb-girdle, type 2X.
DR   MIM; 616812; phenotype.
DR   MedGen; CN235209.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 26.
AC   DI-05816
AR   LGMDR26.
DE   An autosomal recessive muscular disorder characterized by adult onset
DE   of weakness and atrophy of proximal limb muscles, elevated serum
DE   creatine kinase levels, and dystrophic findings on muscle biopsy.
DE   There is no cardiac or respiratory involvement.
DR   MIM; 618848; phenotype.
DR   MedGen; CN280722.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 27.
AC   DI-06247
AR   LGMDR27.
DE   An autosomal recessive muscular disorder characterized by progressive
DE   muscle weakness most prominent in the proximal lower limb and axial
DE   muscles, and resulting in walking difficulty or loss of ambulation.
DE   Additional more variable features include neck muscle weakness,
DE   scoliosis, and joint contractures. Some affected individuals manifest
DE   impaired intellectual development or speech delay, cardiomyopathy, and
DE   cardiac arrhythmia. Muscle biopsy shows non-specific dystrophic
DE   changes.
DR   MIM; 619566; phenotype.
DR   MedGen; CN301075.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 28.
AC   DI-06687
AR   LGMDR28.
DE   An autosomal recessive form of limb girdle muscular dystrophy, a group
DE   of genetically heterogeneous muscular disorders that share proximal
DE   muscle weakness as the major attribute. Most limb girdle muscular
DE   dystrophies present with elevated creatinine kinase and myopathic
DE   electromyographic features. Disease is usually progressive to a
DE   variable degree, ranging from minor disability to complete inability
DE   to ambulate, and can involve the large proximal muscles, as well as
DE   axial and facial muscles. Different disease forms may exhibit skeletal
DE   muscle hypertrophy, kyphoscoliosis, and contractures or involve other
DE   muscle groups and manifest with distal weakness, cardiomyopathy,
DE   dysphagia, and respiratory difficulties. LGMDR28 is characterized by
DE   progressive muscle weakness affecting the proximal and axial muscles
DE   of the upper and lower limbs, and highly variable age at onset. Most
DE   patients have limited ambulation or become wheelchair-bound within a
DE   few decades, and respiratory insufficiency commonly occurs.
DR   MIM; 620375; phenotype.
DR   MedGen; CN327136.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 3.
AC   DI-00661
AR   LGMDR3.
DE   An autosomal recessive degenerative myopathy characterized by
DE   progressive muscle wasting from early childhood with loss of
DE   independent ambulation by teenage years. Muscle biopsy shows necrosis,
DE   decreased immunostaining for alpha sarcoglycan, and adhalin
DE   deficiency.
SY   Adhalinopathy primary.
SY   DMDA2.
SY   Duchenne-like muscular dystrophy autosomal recessive type 2.
SY   LGMD2D.
SY   Limb-girdle muscular dystrophy 2D.
SY   Muscular dystrophy, limb-girdle, type 2D.
SY   SCARMD.
SY   Severe childhood autosomal recessive muscular dystrophy.
DR   MIM; 608099; phenotype.
DR   MedGen; C1842550.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 4.
AC   DI-00662
AR   LGMDR4.
DE   An autosomal recessive degenerative myopathy characterized by pelvic
DE   and shoulder muscle wasting, onset usually in childhood and variable
DE   progression rate.
SY   LGMD2E.
SY   Limb-girdle muscular dystrophy 2E.
SY   Muscular dystrophy, limb-girdle, type 2E.
DR   MIM; 604286; phenotype.
DR   MedGen; C1858593.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 5.
AC   DI-00660
AR   LGMDR5.
DE   An autosomal recessive degenerative myopathy characterized by rapidly
DE   progressive muscle wasting from early childhood with loss of
DE   independent ambulation around age 12 years, dystrophic pattern on
DE   muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin
DE   immunostaining.
SY   DMDA1.
SY   Duchenne-like muscular dystrophy autosomal recessive type 1.
SY   LGMD2C.
SY   Limb-girdle muscular dystrophy 2C.
SY   Muscular dystrophy, limb-girdle, type 2C.
SY   Sarcoglycan gamma deficiency.
SY   SCARMD.
SY   Severe childhood autosomal recessive muscular dystrophy North African type.
DR   MIM; 253700; phenotype.
DR   MedGen; C0410173.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 6.
AC   DI-00663
AR   LGMDR6.
DE   An autosomal recessive degenerative myopathy initially affecting the
DE   proximal limb girdle musculature. Muscle from patients shows a
DE   complete loss of delta-sarcoglycan as well as of the others components
DE   of the sarcoglycan complex.
SY   LGMD2F.
SY   Limb-girdle muscular dystrophy 2F.
SY   Muscular dystrophy, limb-girdle, type 2F.
DR   MIM; 601287; phenotype.
DR   MedGen; C1832525.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 7.
AC   DI-00664
AR   LGMDR7.
DE   An autosomal recessive degenerative myopathy characterized by proximal
DE   and distal muscle weakness and atrophy in the limbs, dystrophic
DE   changes on muscle biopsy, and absence of telethonin. Cardiac muscle is
DE   involved in a subset of patients.
SY   LGMD2G.
SY   Limb-girdle muscular dystrophy 2G.
SY   Muscular dystrophy, limb-girdle, type 2G.
DR   MIM; 601954; phenotype.
DR   MedGen; C1866008.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy, limb-girdle, autosomal recessive 8.
AC   DI-00665
AR   LGMDR8.
DE   An autosomal recessive degenerative myopathy characterized by pelvic
DE   girdle, shoulder girdle and quadriceps muscle weakness. Clinical
DE   phenotype and severity are highly variable. Disease progression is
DE   slow and most patients remain ambulatory into the sixth decade of
DE   life.
SY   LGMD2H.
SY   Limb-girdle muscular dystrophy 2H.
SY   Muscular dystrophy, limb-girdle, type 2H.
SY   Muscular dystrophy Hutterite type.
SY   Sarcotubular myopathy.
DR   MIM; 254110; phenotype.
DR   MedGen; C0270968.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1.
AC   DI-01132
AR   MDDGA1.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Cerebroocular dysgenesis.
SY   Cerebroocular dysplasia-muscular dystrophy syndrome.
SY   COD.
SY   COD-MD syndrome.
SY   HARD +/- E syndrome.
SY   HARD syndrome.
SY   Hydrocephalus-agyria-retinal dysplasia.
SY   MEB.
SY   Muscle-eye-brain disease.
SY   Muscle-eye-brain disease POMT1-related.
SY   Muscular dystrophy due to defective glycosylation of dystroglycan 1A.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.
SY   Walker-Warburg syndrome.
SY   Walker-Warburg syndrome POMT1-related.
SY   Warburg syndrome.
SY   WWS.
DR   MIM; 236670; phenotype.
DR   MedGen; C0265221.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10.
AC   DI-03684
AR   MDDGA10.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease TMEM5-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10.
SY   Walker-Warburg syndrome TMEM5-related.
DR   MIM; 615041; phenotype.
DR   MedGen; C3554381.
DR   MedGen; CN164735.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11.
AC   DI-03747
AR   MDDGA11.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11.
SY   Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related.
DR   MIM; 615181; phenotype.
DR   MedGen; C3554638.
DR   MedGen; CN168979.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12.
AC   DI-03721
AR   MDDGA12.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.
SY   Walker-Warburg syndrome or muscle-eye-brain disease POMK-related.
DR   MIM; 615249; phenotype.
DR   MedGen; C3808964.
DR   MedGen; CN169987.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13.
AC   DI-03785
AR   MDDGA13.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13.
SY   Walker-Warburg syndrome or muscle-eye-brain disease B3GNT1-related.
DR   MIM; 615287; phenotype.
DR   MedGen; C3809042.
DR   MedGen; CN177021.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14.
AC   DI-03846
AR   MDDGA14.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with brain anomalies, eye malformations, and
DE   profound intellectual disability. The disorder includes a severe form
DE   designated as Walker-Warburg syndrome and a less severe phenotype
DE   known as muscle-eye-brain disease. MDDGA14 features include increased
DE   muscle tone, microcephaly, cleft palate, feeding difficulties, severe
DE   muscle weakness, sensorineural hearing loss, cerebellar hypoplasia,
DE   ataxia, and retinal dysfunction.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14.
SY   Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related.
DR   MIM; 615350; phenotype.
DR   MedGen; C3809216.
DR   MedGen; CN178538.
DR   MeSH; D058494.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2.
AC   DI-02954
AR   MDDGA2.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease POMT2-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.
SY   Walker-Warburg syndrome POMT2-related.
DR   MIM; 613150; phenotype.
DR   MedGen; C3150411.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3.
AC   DI-00792
AR   MDDGA3.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy, ocular abnormalities, cobblestone lissencephaly, and
DE   cerebellar and pontine hypoplasia. Patients present severe congenital
DE   myopia, congenital glaucoma, pallor of the optic disks, retinal
DE   hypoplasia, intellectual disability, hydrocephalus, abnormal
DE   electroencephalograms, generalized muscle weakness and myoclonic
DE   jerks. Included diseases are the more severe Walker-Warburg syndrome
DE   and the slightly less severe muscle-eye-brain disease.
SY   Muscle-eye-brain disease POMGNT1-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.
SY   Walker-Warburg syndrome POMGNT1-related.
DR   MIM; 253280; phenotype.
DR   MedGen; C0457133.
DR   MedGen; C3151519.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4.
AC   DI-00364
AR   MDDGA4.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Cerebromuscular dystrophy Fukuyama type.
SY   Congenital muscular dystrophy Fukuyama type.
SY   FCMD.
SY   Micropolygyria with muscular dystrophy.
SY   Muscle-eye-brain disease FKTN-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4.
SY   Walker-Warburg syndrome FKTN-related.
DR   MIM; 253800; phenotype.
DR   MedGen; C0410174.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5.
AC   DI-02953
AR   MDDGA5.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease FKRP-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5.
SY   Walker-Warburg syndrome FKRP-related.
DR   MIM; 613153; phenotype.
DR   MedGen; C3150413.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6.
AC   DI-02962
AR   MDDGA6.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease LARGE-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6.
SY   Walker-Warburg syndrome LARGE-related.
DR   MIM; 613154; phenotype.
DR   MedGen; C3150414.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7.
AC   DI-03441
AR   MDDGA7.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease ISPD-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
SY   Walker-Warburg syndrome ISPD-related.
DR   MIM; 614643; phenotype.
DR   MedGen; C3553330.
DR   MedGen; CN124931.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8.
AC   DI-03536
AR   MDDGA8.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscle-eye-brain disease GTDC2-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8.
SY   Walker-Warburg syndrome GTDC2-related.
DR   MIM; 614830; phenotype.
DR   MedGen; C3553813.
DR   MedGen; CN143953.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9.
AC   DI-04533
AR   MDDGA9.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with cobblestone lissencephaly and other brain
DE   anomalies, eye malformations, profound intellectual disability, and
DE   death usually in the first years of life. Included diseases are the
DE   more severe Walker-Warburg syndrome and the slightly less severe
DE   muscle-eye-brain disease.
SY   Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9.
SY   Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related.
DR   MIM; 616538; phenotype.
DR   MedGen; CN232402.
DR   MeSH; D058494.
KW   KW-0451:Lissencephaly.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1.
AC   DI-02963
AR   MDDGB1.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with intellectual disability and mild structural
DE   brain abnormalities.
SY   Muscular dystrophy congenital POMT1-related.
SY   Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1.
DR   MIM; 613155; phenotype.
DR   MedGen; C3150415.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14.
AC   DI-03847
AR   MDDGB14.
DE   A congenital muscular dystrophy characterized by severe muscle
DE   weakness apparent in infancy and intellectual disability. Some
DE   patients may have additional features, such as microcephaly, cardiac
DE   dysfunction, seizures, or cerebellar hypoplasia.
SY   Congenital muscular dystrophy GMPPB-related.
DR   MIM; 615351; phenotype.
DR   MedGen; C3809221.
DR   MedGen; CN178539.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15.
AC   DI-05900
AR   MDDGB15.
DE   An autosomal recessive, congenital muscular disorder characterized by
DE   hyperCKemia, myopathic features observed on muscle biopsy,
DE   developmental delay, mildly impaired intellectual development with
DE   learning difficulties, epilepsy, and mild white matter abnormalities.
SY   Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.
DR   MIM; 618992; phenotype.
DR   MedGen; CN283339.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2.
AC   DI-02955
AR   MDDGB2.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with intellectual disability and mild structural
DE   brain abnormalities.
SY   Muscular dystrophy congenital POMT2-related.
DR   MIM; 613156; phenotype.
DR   MedGen; C3150416.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3.
AC   DI-02961
AR   MDDGB3.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy associated with intellectual disability and mild structural
DE   brain abnormalities. Clinical features include intellectual
DE   disability, white matter changes, cerebellar cysts, pontine
DE   hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on
DE   muscle biopsy and increased serum creatine kinase.
SY   Muscular dystrophy congenital POMGNT1-related.
DR   MIM; 613151; phenotype.
DR   MedGen; C3150412.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6.
AC   DI-01410
AR   MDDGB6.
DE   A congenital muscular dystrophy associated with profound intellectual
DE   disability, white matter changes and structural brain abnormalities.
DE   Skeletal muscle biopsies show reduced immunolabeling of alpha-
DE   dystroglycan.
SY   Congenital muscular dystrophy type 1D.
SY   MDC1D.
SY   Muscular dystrophy LARGE-related.
DR   MIM; 608840; phenotype.
DR   MedGen; C1837229.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5.
AC   DI-01409
AR   MDDGB5.
DE   A congenital muscular dystrophy characterized by a severe phenotype
DE   with inability to walk, muscle hypertrophy, marked elevation of serum
DE   creatine kinase, secondary deficiency of laminin alpha2, and a marked
DE   reduction in alpha-dystroglycan expression. Only a subset of affected
DE   individuals have brain involvements.
SY   MDC1C.
SY   Muscular dystrophy congenital type 1C.
SY   Muscular dystrophy FKRP-related.
DR   MIM; 606612; phenotype.
DR   MedGen; C1847759.
DR   MedGen; CN068805.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4.
AC   DI-02728
AR   MDDGB4.
DE   An autosomal recessive disorder characterized by congenital muscular
DE   dystrophy and evidence of dystroglycanopathy. Features included
DE   increased serum creatine kinase, generalized weakness, mild white
DE   matter changes on brain MRI, and absence of intellectual disability.
SY   Muscular dystrophy congenital FKTN-related.
DR   MIM; 613152; phenotype.
DR   MedGen; C2751052.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C1.
AC   DI-00668
AR   MDDGC1.
DE   An autosomal recessive degenerative myopathy associated with mild
DE   intellectual disability without any obvious structural brain
DE   abnormality. An abnormal alpha-dystroglycan pattern in observed in the
DE   muscle.
SY   LGMD2K.
SY   LGMDR11.
SY   Limb-girdle muscular dystrophy type 2K.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 11.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.
DR   MIM; 609308; phenotype.
DR   MedGen; C1836373.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C12.
AC   DI-04274
AR   MDDGC12.
DE   An autosomal recessive limb-girdle congenital muscular dystrophy,
DE   characterized by muscle weakness and delayed motor development in
DE   association with cognitive impairment.
SY   Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.
DR   MIM; 616094; phenotype.
DR   MedGen; CN221288.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C14.
AC   DI-03848
AR   MDDGC14.
DE   An autosomal recessive form of muscular dystrophy characterized by
DE   mild proximal muscle weakness with onset in early childhood. Some
DE   patients may have additional features, such as mild intellectual
DE   disability or seizures.
SY   LGMD2T.
SY   LGMDR19.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 19.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.
SY   Muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related.
SY   Muscular dystrophy limb-girdle type 2T.
DR   MIM; 615352; phenotype.
DR   MedGen; C3714932.
DR   MedGen; CN178540.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C15.
AC   DI-02496
AR   MDDGC15.
DE   An autosomal recessive muscular dystrophy associated with a disorder
DE   of glycosylation resulting in under-glycosylated serum glycoproteins.
DE   MDDGC15 patients have muscle weakness, increased serum creatine
DE   kinase, dystrophic changes on muscle biopsy, and reduced O-
DE   mannosylation of alpha-dystroglycan.
SY   CDG1O.
SY   CDGIo.
SY   CDG Io.
SY   CDG-Io.
SY   Congenital disorder of glycosylation 1O.
SY   Congenital disorder of glycosylation type Io.
SY   Muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15.
DR   MIM; 612937; phenotype.
DR   MedGen; C2752007.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C2.
AC   DI-02956
AR   MDDGC2.
DE   An autosomal recessive muscular dystrophy with onset after ambulation
DE   is achieved. MDDGC2 is characterized by increased serum creatine
DE   kinase and mild muscle weakness. Muscle biopsy shows dystrophic
DE   changes, inflammatory changes, and severely decreased alpha-
DE   dystroglycan. Cognition is normal.
SY   LGMD2N.
SY   LGMDR14.
SY   Limb-girdle muscular dystrophy type 2N.
SY   MDGD2C.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 14.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.
SY   Muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related.
DR   MIM; 613158; phenotype.
DR   MedGen; C3150418.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C3.
AC   DI-02957
AR   MDDGC3.
DE   A rare form of limb-girdle muscular dystrophy with normal cognition.
DE   Muscle biopsy shows dystrophic changes with variable staining for
DE   glycosylated alpha-dystroglycan.
SY   LGMDR15.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 15.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.
SY   Muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related.
DR   MIM; 613157; phenotype.
DR   MedGen; C3150417.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C4.
AC   DI-00669
AR   MDDGC4.
DE   An autosomal recessive degenerative myopathy characterized by
DE   progressive weakness of the pelvic and shoulder girdle muscles, and
DE   elevated serum creatine kinase. MDDGC4 has no brain involvement and a
DE   remarkable clinical response to corticosteroids.
SY   LGMD2M.
SY   LGMDR13.
SY   Limb-girdle muscular dystrophy type 2M.
SY   MDGD4C.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 13.
SY   Muscular dystrophy due to defective glycosylation of dystroglycan 4C.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.
DR   MIM; 611588; phenotype.
DR   MedGen; C1969040.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C5.
AC   DI-00666
AR   MDDGC5.
DE   An autosomal recessive degenerative myopathy with age of onset ranging
DE   from childhood to adult life, and variable severity. Clinical features
DE   include proximal muscle weakness, waddling gait, calf hypertrophy,
DE   cardiomyopathy and respiratory insufficiency. A reduction of alpha-
DE   dystroglycan and laminin alpha-2 expression can be observed on
DE   skeletal muscle biopsy from MDDGC5 patients.
SY   LGMD2I.
SY   LGMDR9.
SY   Limb-girdle muscular dystrophy type 2I.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 9.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.
SY   Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related.
DR   MIM; 607155; phenotype.
DR   MedGen; C1846672.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C7.
AC   DI-04245
AR   MDDGC7.
DE   A form of muscular dystrophy resulting from defective glycosylation of
DE   alpha-dystroglycan, and characterized by a limb-girdle phenotype with
DE   muscular weakness apparent after ambulation is achieved. MDDGC7
DE   individuals do not show epilepsy, intellectual disability, structural
DE   eye/brain abnormalities, or white matter changes.
SY   LGMD2U.
SY   LGMDR20.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 20.
SY   Muscular dystrophy, limb-girdle, type 2U.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
DR   MIM; 616052; phenotype.
DR   MedGen; CN220058.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C8.
AC   DI-05342
AR   MDDGC8.
DE   An autosomal recessive muscular disease with onset in childhood,
DE   characterized by limb-girdle muscular dystrophy and intellectual
DE   disability without brain malformation. Disease severity is highly
DE   variable and some patients may be clinically asymptomatic.
SY   LGMDR24.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 24.
SY   Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related.
DR   MIM; 618135; phenotype.
DR   MedGen; CN253928.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Muscular dystrophy-dystroglycanopathy limb-girdle C9.
AC   DI-03074
AR   MDDGC9.
DE   An autosomal recessive muscular dystrophy showing onset in early
DE   childhood, and associated with intellectual disability without
DE   structural brain anomalies.
SY   LGMD2P.
SY   LGMDR16.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 16.
SY   Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.
SY   Muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related.
SY   Muscular dystrophy limb-girdle type 2P.
DR   MIM; 613818; phenotype.
DR   MedGen; C3151184.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
KW   KW-1215:Dystroglycanopathy.
//
ID   Myasthenic syndrome, congenital, 10.
AC   DI-00494
AR   CMS10.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS10 is an autosomal
DE   recessive, post-synaptic form characterized by a typical 'limb girdle'
DE   pattern of muscle weakness with small, simplified neuromuscular
DE   junctions but normal acetylcholine receptor and acetylcholinesterase
DE   function.
SY   CMS1B.
SY   CMS Ib.
SY   Congenital myasthenic syndrome type 1b.
SY   Congenital myasthenic syndrome type Ib.
SY   LGM.
SY   Myasthenia, limb-girdle, familial.
SY   Myasthenic myopathy.
DR   MIM; 254300; phenotype.
DR   MedGen; C1850792.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.
AC   DI-04401
AR   CMS11.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS11 is an autosomal
DE   recessive disorder of postsynaptic neuromuscular transmission, due to
DE   deficiency of AChR at the endplate that results in low amplitude of
DE   the miniature endplate potential and current.
SY   CMS1E.
SY   CMS Ie.
SY   Myasthenic syndrome, congenital, Ie.
DR   MIM; 616326; phenotype.
DR   MedGen; C1837094.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 12.
AC   DI-03084
AR   CMS12.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS12 is characterized by onset of proximal muscle weakness
DE   in the first decade. Individuals with this condition have a
DE   recognizable pattern of weakness of shoulder and pelvic girdle
DE   muscles, and sparing of ocular or facial muscles. EMG classically
DE   shows a decremental response to repeated nerve stimulation, a sign of
DE   neuromuscular junction dysfunction. Affected individuals show a
DE   favorable response to acetylcholinesterase (AChE) inhibitors.
SY   CMSTA1.
SY   Limb-girdle myasthenia with tubular aggregates.
SY   Myasthenia, congenital, with tubular aggregates 1.
SY   Myasthenic syndrome, congenital, with tubular aggregates, 1.
DR   MIM; 610542; phenotype.
DR   MedGen; C1864649.
DR   MedGen; C3552335.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 13.
AC   DI-03511
AR   CMS13.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS13 is characterized by muscle weakness mostly affecting
DE   proximal limb muscles, minimal involvement of facial, ocular and
DE   bulbar muscles, and tubular aggregates present on muscle biopsy.
DE   Symptoms include difficulty walking and frequent falls. Younger
DE   patients show hypotonia and poor head control. Neurophysiological
DE   features indicate a disorder of neuromuscular transmission on
DE   electromyography.
SY   CMSTA2.
SY   Myasthenic syndrome, congenital, with tubular aggregates, 2.
DR   MIM; 614750; phenotype.
DR   MedGen; C3553645.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 14.
AC   DI-04340
AR   CMS14.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS14 is an autosomal recessive form characterized by onset
DE   of limb-girdle muscle weakness in early childhood. The disorder is
DE   slowly progressive, and some patients may become wheelchair-bound.
SY   CMSTA3.
SY   Myasthenic syndrome, congenital, 14, with tubular aggregates.
SY   Myasthenic syndrome, congenital, with tubular aggregates, 3.
DR   MIM; 616228; phenotype.
DR   MedGen; CN226296.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 15.
AC   DI-04339
AR   CMS15.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness.
SY   CMSWTA.
SY   Myasthenic syndrome, congenital, 15, without tubular aggregates.
SY   Myasthenic syndrome, congenital, without tubular aggregates.
DR   MIM; 616227; phenotype.
DR   MedGen; CN226294.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 16.
AC   DI-00365
AR   CMS16.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS16 is characterized by fatigable generalized weakness and
DE   recurrent attacks of respiratory and bulbar paralysis since birth. The
DE   fatigable weakness involves lid-elevator, external ocular, facial,
DE   limb and truncal muscles and an decremental response of the compound
DE   muscle action potential on repetitive stimulation.
SY   Congenital myasthenic syndrome due to mutation in SCN4A.
SY   Congenital myasthenic syndrome SCN4A-related.
SY   Myasthenic syndrome, congenital, acetazolamide-responsive.
DR   MIM; 614198; phenotype.
DR   MedGen; C3280112.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 17.
AC   DI-04402
AR   CMS17.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort.
DR   MIM; 616304; phenotype.
DR   MedGen; CN229746.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 18.
AC   DI-04403
AR   CMS18.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS18 is an autosomal
DE   dominant presynaptic disorder clinically characterized by early-onset
DE   muscle weakness and easy fatigability associated with delayed
DE   psychomotor development and ataxia.
SY   Myasthenic syndrome, congenital, 18 with intellectual disability and ataxia.
DR   MIM; 616330; phenotype.
DR   MedGen; CN229755.
DR   MeSH; D020294.
KW   KW-0991:Intellectual disability.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 19.
AC   DI-04604
AR   CMS19.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort.
DR   MIM; 616720; phenotype.
DR   MedGen; CN234682.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 1A, slow-channel.
AC   DI-00368
AR   CMS1A.
DE   A common congenital myasthenic syndrome. Congenital myasthenic
DE   syndromes are characterized by muscle weakness affecting the axial and
DE   limb muscles (with hypotonia in early-onset forms), the ocular muscles
DE   (leading to ptosis and ophthalmoplegia), and the facial and bulbar
DE   musculature (affecting sucking and swallowing, and leading to
DE   dysphonia). The symptoms fluctuate and worsen with physical effort.
DE   CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic
DE   abnormalities of the AChR, resulting in prolonged AChR channel opening
DE   episodes, prolonged endplate currents, and depolarization block. This
DE   is associated with calcium overload, which may contribute to
DE   subsequent degeneration of the endplate and postsynaptic membrane.
SY   CMS2A.
SY   CMS IIa.
SY   Congenital myasthenic syndrome post-synaptic slow-channel.
SY   Congenital myasthenic syndrome type IIa.
SY   Myasthenic syndrome, congenital, slow-channel.
SY   SCCMS.
DR   MIM; 601462; phenotype.
DR   MedGen; C0751885.
DR   MedGen; C2931107.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 1B, fast-channel.
AC   DI-00367
AR   CMS1B.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS1B is a fast-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in brief opening and activity of the channel, with a
DE   rapid decay in endplate current, failure to achieve threshold
DE   depolarization of the endplate and consequent failure to fire an
DE   action potential.
SY   FCCMS.
SY   Myasthenic syndrome, congenital, fast-channel.
DR   MIM; 608930; phenotype.
DR   MedGen; C1837122.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 20, presynaptic.
AC   DI-04861
AR   CMS20.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS20 is an autosomal recessive, pre-synaptic form
DE   characterized by severe hypotonia and episodic apnea soon after birth,
DE   generalized limb fatigability and weakness, delayed walking, ptosis,
DE   poor sucking and swallowing.
DR   MIM; 617143; phenotype.
DR   MedGen; CN238686.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 21, presynaptic.
AC   DI-04909
AR   CMS21.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS21 is an autosomal recessive, pre-synaptic form
DE   characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic
DE   crises, and deterioration of symptoms in cold water. Learning
DE   difficulties and left ventricular dysfunction may be present in some
DE   patients.
DR   MIM; 617239; phenotype.
DR   MedGen; CN239550.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 22.
AC   DI-04963
AR   CMS22.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features include easy fatigability and
DE   muscle weakness. CMS22 is an autosomal recessive form characterized by
DE   neonatal hypotonia.
SY   PREPL deficiency.
DR   MIM; 616224; phenotype.
DR   MedGen; CN240841.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 23, presynaptic.
AC   DI-05393
AR   CMS23.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features include easy fatigability and
DE   muscle weakness. CMS23 inheritance is autosomal recessive.
DR   MIM; 618197; phenotype.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 24, presynaptic.
AC   DI-05394
AR   CMS24.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features include easy fatigability and
DE   muscle weakness. CMS24 inheritance is autosomal recessive.
DR   MIM; 618198; phenotype.
DR   MedGen; CN257489.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 25, presynaptic.
AC   DI-05479
AR   CMS25.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features include easy fatigability and
DE   muscle weakness. CMS25 is an autosomal recessive form characterized by
DE   hypotonia and generalized muscle weakness apparent from birth.
DE   Affected individuals have feeding difficulties and delayed motor
DE   development, usually never achieving independent ambulation.
DE   Additional variable features include eye movement abnormalities, joint
DE   contractures, and rigid spine.
DR   MIM; 618323; phenotype.
DR   MedGen; CN258208.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 2A, slow-channel.
AC   DI-04393
AR   CMS2A.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS2A is a slow-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE   endplate currents, and depolarization block. This is associated with
DE   calcium overload, which may contribute to subsequent degeneration of
DE   the endplate and postsynaptic membrane.
DR   MIM; 616313; phenotype.
DR   MedGen; CN229747.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency.
AC   DI-04398
AR   CMS2C.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS2C is an autosomal
DE   recessive disorder of postsynaptic neuromuscular transmission, due to
DE   deficiency of AChR at the endplate that results in low amplitude of
DE   the miniature endplate potential and current. CMS2C is clinically
DE   characterized by early-onset muscle weakness with variable severity.
DR   MIM; 616314; phenotype.
DR   MedGen; CN229748.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 3A, slow-channel.
AC   DI-04394
AR   CMS3A.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS3A is a slow-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE   endplate currents, and depolarization block. This is associated with
DE   calcium overload, which may contribute to subsequent degeneration of
DE   the endplate and postsynaptic membrane.
DR   MIM; 616321; phenotype.
DR   MedGen; CN229749.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 3B, fast-channel.
AC   DI-04395
AR   CMS3B.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS3B is a fast-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in brief opening and activity of the channel, with a
DE   rapid decay in endplate current, failure to achieve threshold
DE   depolarization of the endplate and consequent failure to fire an
DE   action potential.
DR   MIM; 616322; phenotype.
DR   MedGen; CN229750.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.
AC   DI-04399
AR   CMS3C.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS3C is an autosomal
DE   recessive disorder of postsynaptic neuromuscular transmission, due to
DE   deficiency of AChR at the endplate that results in low amplitude of
DE   the miniature endplate potential and current.
DR   MIM; 616323; phenotype.
DR   MedGen; CN229751.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 4A, slow-channel.
AC   DI-04397
AR   CMS4A.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS4A is a slow-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in prolonged AChR channel opening episodes, prolonged
DE   endplate currents, and depolarization block. This is associated with
DE   calcium overload, which may contribute to subsequent degeneration of
DE   the endplate and postsynaptic membrane.
SY   CMS1A1.
SY   CMS Ia1.
SY   Congenital myasthenic syndrome type Ia1.
SY   Myasthenia, familial infantile, 1.
DR   MIM; 605809; phenotype.
DR   MedGen; C1853949.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 4B, fast-channel.
AC   DI-04396
AR   CMS4B.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS4B is a fast-channel
DE   myasthenic syndrome. It is caused by kinetic abnormalities of the
DE   AChR, resulting in brief opening and activity of the channel, with a
DE   rapid decay in endplate current, failure to achieve threshold
DE   depolarization of the endplate and consequent failure to fire an
DE   action potential.
DR   MIM; 616324; phenotype.
DR   MedGen; CN229752.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.
AC   DI-00369
AR   CMS4C.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS4C is an autosomal
DE   recessive disorder of postsynaptic neuromuscular transmission, due to
DE   deficiency of AChR at the endplate that results in low amplitude of
DE   the miniature endplate potential and current.
SY   CMS1D.
SY   CMS1E.
SY   CMS-ACHRD.
SY   CMS Id.
SY   CMS Ie.
SY   Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency.
SY   Congenital myasthenic syndrome type 1d.
SY   Congenital myasthenic syndrome type 1e.
SY   Congenital myasthenic syndrome type Id.
SY   Congenital myasthenic syndrome type Ie.
SY   Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency.
SY   FIM1.
SY   Myasthenia, familial infantile, 1.
SY   Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency.
DR   MIM; 608931; phenotype.
DR   MedGen; C1837091.
DR   MedGen; C1837092.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 5.
AC   DI-00366
AR   CMS5.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS5 inheritance is
DE   autosomal recessive.
SY   CMS1C.
SY   CMSE.
SY   CMS Ic.
SY   Congenital myasthenic syndrome type 1c.
SY   Congenital myasthenic syndrome type Ic.
SY   EAD.
SY   Endplate acetylcholinesterase deficiency.
SY   End-plate acetylcholinesterase deficiency.
SY   Engel congenital myasthenic syndrome.
SY   Myasthenic syndrome, congenital, Engel type.
DR   MIM; 603034; phenotype.
DR   MedGen; C1864233.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 6, presynaptic.
AC   DI-00370
AR   CMS6.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS6 affected individuals
DE   have myasthenic symptoms since birth or early infancy, negative tests
DE   for anti-AChR antibodies, and abrupt episodic crises with increased
DE   weakness, bulbar paralysis, and apnea precipitated by undue exertion,
DE   fever, or excitement. CMS6 inheritance is autosomal recessive.
SY   CMS1A.
SY   CMSEA.
SY   CMS-EA.
SY   CMS Ia.
SY   Congenital myasthenic syndrome pre-synaptic associated with episodic apnea.
SY   Congenital myasthenic syndrome type 1a.
SY   Congenital myasthenic syndrome type Ia.
SY   Familial infantile myasthenia gravis 2.
SY   FIMG2.
SY   Myasthenic syndrome, congenital, associated with episodic apnea.
DR   MIM; 254210; phenotype.
DR   MedGen; C0393929.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant.
AC   DI-04255
AR   CMS7A.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS7A is an autosomal dominant, presynaptic disorder
DE   resembling Lambert-Eaton myasthenic syndrome. Affected individuals
DE   have a variable degree of proximal and distal limb weakness, muscle
DE   fatigue that improves with rest, mild gait difficulties, and reduced
DE   or absent deep tendon reflexes.
SY   Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy.
SY   MYSPC.
DR   MIM; 616040; phenotype.
DR   MedGen; CN219804.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive.
AC   DI-06179
AR   CMS7B.
DE   An autosomal recessive form of congenital myasthenic syndrome, a group
DE   of disorders characterized by failure of neuromuscular transmission,
DE   including pre-synaptic, synaptic, and post-synaptic disorders that are
DE   not of autoimmune origin. Clinical features are easy fatigability and
DE   muscle weakness. CMS7B is characterized by defects at the pre-synaptic
DE   neuromuscular junction and severe generalized muscle weakness apparent
DE   from birth. Decreased fetal movements may be apparent in utero.
DE   Affected infants have generalized hypotonia, head lag, and facial
DE   muscle weakness with ptosis. Some patients may have respiratory
DE   involvement.
DR   MIM; 619461; phenotype.
DR   MedGen; CN300319.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 8.
AC   DI-04109
AR   CMS8.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness. CMS8 is an autosomal recessive disease characterized by
DE   prominent defects of both the pre- and postsynaptic regions. Affected
DE   individuals have onset of muscle weakness in early childhood; the
DE   severity of the weakness and muscles affected is variable.
SY   CMSPPD.
SY   Congenital myasthenic syndrome due to agrin deficiency.
SY   Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects.
SY   Myasthenic syndrome, congenital, with pre- and postsynaptic defects.
DR   MIM; 615120; phenotype.
DR   MedGen; C3808739.
DR   MedGen; CN186031.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.
AC   DI-04400
AR   CMS9.
DE   A form of congenital myasthenic syndrome, a group of disorders
DE   characterized by failure of neuromuscular transmission, including pre-
DE   synaptic, synaptic, and post-synaptic disorders that are not of
DE   autoimmune origin. Clinical features are easy fatigability and muscle
DE   weakness affecting the axial and limb muscles (with hypotonia in
DE   early-onset forms), the ocular muscles (leading to ptosis and
DE   ophthalmoplegia), and the facial and bulbar musculature (affecting
DE   sucking and swallowing, and leading to dysphonia). The symptoms
DE   fluctuate and worsen with physical effort. CMS9 is a disorder of
DE   postsynaptic neuromuscular transmission, due to deficiency of AChR at
DE   the endplate that results in low amplitude of the miniature endplate
DE   potential and current.
DR   MIM; 616325; phenotype.
DR   MedGen; CN229753.
DR   MeSH; D020294.
KW   KW-1004:Congenital myasthenic syndrome.
//
ID   Myelodysplastic syndrome.
AC   DI-03291
AR   MDS.
DE   A heterogeneous group of closely related clonal hematopoietic
DE   disorders. All are characterized by a hypercellular or hypocellular
DE   bone marrow with impaired morphology and maturation, dysplasia of the
DE   myeloid, megakaryocytic and/or erythroid lineages, and peripheral
DE   blood cytopenias resulting from ineffective blood cell production.
DE   Included diseases are: refractory anemia (RA), refractory anemia with
DE   ringed sideroblasts (RARS), refractory anemia with excess blasts
DE   (RAEB), refractory cytopenia with multilineage dysplasia and ringed
DE   sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a
DE   myelodysplastic/myeloproliferative disease. MDS is considered a
DE   premalignant condition in a subgroup of patients that often progresses
DE   to acute myeloid leukemia (AML).
DR   MIM; 614286; phenotype.
DR   MedGen; C3463824.
DR   MeSH; D009190.
//
ID   Myelofibrosis.
AC   DI-02746
AR   MYELOF.
DE   A disorder characterized by replacement of the bone marrow by fibrous
DE   tissue, occurring in association with a myeloproliferative disorder.
DE   Clinical manifestations may include anemia, pallor, splenomegaly,
DE   hypermetabolic state, petechiae, ecchymosis, bleeding,
DE   lymphadenopathy, hepatomegaly, portal hypertension.
SY   Idiopathic myelofibrosis.
SY   Myelosclerosis.
DR   MIM; 254450; phenotype.
DR   MedGen; C0001815.
DR   MeSH; D055728.
//
ID   Myelofibrosis with myeloid metaplasia.
AC   DI-03415
AR   MMM.
DE   A chronic myeloproliferative disorder characterized by replacement of
DE   the bone marrow by fibrous tissue, extramedullary hematopoiesis,
DE   anemia, leukoerythroblastosis and hepatosplenomegaly.
SY   Agnogenic myeloid metaplasia.
SY   Agnogenic myeloid metaplasia with myelofibrosis.
SY   AMMM.
SY   Myelosclerosis with myeloid metaplasia.
DR   MIM; 254450; phenotype.
DR   MedGen; C0026987.
DR   MeSH; D009191.
//
ID   Myeloperoxidase deficiency.
AC   DI-02016
AR   MPOD.
DE   A disorder characterized by decreased myeloperoxidase activity in
DE   neutrophils and monocytes that results in disseminated candidiasis.
SY   MPO deficiency.
DR   MIM; 254600; phenotype.
DR   MedGen; C0398595.
DR   MeSH; D002177.
//
ID   Myeloproliferative disorder chronic with eosinophilia.
AC   DI-02609
AR   MPE.
DE   A hematologic disorder characterized by malignant eosinophils
DE   proliferation.
SY   Malignant proliferation of eosinophils.
DR   MIM; 131440; phenotype.
DR   MedGen; C1851585.
//
ID   Myeloproliferative/lymphoproliferative neoplasms, familial.
AC   DI-04687
AR   MPLPF.
DE   A familial cancer predisposition syndrome with incomplete penetrance,
DE   characterized by increased susceptibility to myeloid neoplasms and
DE   rarely to lymphoid malignancies. MPLPF inheritance is autosomal
DE   dominant.
SY   Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types).
DR   MIM; 616871; phenotype.
DR   MedGen; CN235622.
DR   MeSH; D008223.
DR   MeSH; D054437.
//
ID   Myhre syndrome.
AC   DI-03349
AR   MYHRS.
DE   An autosomal dominant syndrome characterized by pre- and postnatal
DE   growth deficiency, intellectual disability, generalized muscle
DE   hypertrophy and striking muscular build, decreased joint mobility,
DE   cryptorchidism, and unusual facies. Dysmorphic facial features include
DE   microcephaly, midface hypoplasia, prognathism, and blepharophimosis.
DE   Typical skeletal anomalies are short stature, square body shape, broad
DE   ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and
DE   thickened calvaria. Other features, such as congenital heart disease,
DE   may also occur.
SY   Growth-mental deficiency syndrome of Myhre.
SY   LAPS syndrome.
SY   Laryngotracheal stenosis, arthropathy, prognathism, and short stature.
DR   MIM; 139210; phenotype.
DR   MedGen; C0796081.
DR   MeSH; D006130.
DR   MeSH; D008607.
//
ID   Myocardial infarction 1.
AC   DI-02017
AR   MCI1.
DE   A condition defined by the irreversible necrosis of heart muscle
DE   secondary to prolonged ischemia.
SY   Premature myocardial infarction.
DR   MIM; 608446; phenotype.
DR   MedGen; C1832662.
DR   MedGen; C1838021.
DR   MedGen; C3277063.
DR   MeSH; D009203.
//
ID   Myoclonic-atonic epilepsy.
AC   DI-04457
AR   MAE.
DE   A form of epilepsy characterized by myoclonic-atonic and absence
DE   seizures, appearing in early childhood. Patients have delayed
DE   development before the onset of seizures and show varying degrees of
DE   intellectual disability following seizure onset.
DR   MIM; 616421; phenotype.
DR   MedGen; CN231318.
DR   MeSH; D004831.
DR   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Myoclonus, familial, 1.
AC   DI-03616
AR   MYOCL1.
DE   An autosomal dominant neurologic condition characterized by adult
DE   onset of cortical myoclonus manifest as involuntary jerks or movements
DE   affecting the face and limbs. Affected individuals can also experience
DE   falls without seizure activity or loss of consciousness.
SY   FCM.
SY   Myoclonus, familial cortical.
DR   MIM; 614937; phenotype.
DR   MedGen; C3539916.
DR   MedGen; CN160752.
DR   MeSH; D009207.
//
ID   Myoclonus, familial, 2.
AC   DI-05513
AR   MYOCL2.
DE   An autosomal dominant neurologic disorder characterized by upper limb
DE   isolated myoclonus without seizures or cognitive impairment. MYOCL2 is
DE   a non-progressive disease with onset in the first decade of life.
DR   MIM; 618364; phenotype.
DR   MedGen; CN258255.
DR   MeSH; D009207.
//
ID   Myoclonus, intractable, neonatal.
AC   DI-04913
AR   NEIMY.
DE   An autosomal dominant neurologic disorder characterized by severe,
DE   infantile-onset myoclonic seizures, hypotonia, optic nerve
DE   abnormalities, dysphagia, apnea, and early developmental arrest. Brain
DE   imaging shows a progressive leukoencephalopathy. Some patients may die
DE   in infancy.
DR   MIM; 617235; phenotype.
DR   MedGen; CN239547.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Myoectodermal gonadal dysgenesis syndrome.
AC   DI-05558
AR   MEGD.
DE   An autosomal recessive disorder characterized by 46,XY complete
DE   gonadal dysgenesis and extragonadal anomalies, including typical
DE   facial gestalt, low birth weight, myopathy, rod and cone dystrophy,
DE   anal atresia, omphalocele, sensorineural hearing loss, dry and scaly
DE   skin, skeletal abnormalities, renal agenesis and neuromotor delay.
SY   Brosnan-Kennerknecht-Guran-Koc syndrome BKGK.
SY   GDRM.
SY   Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
DR   MIM; 618419; phenotype.
DR   MedGen; CN258374.
DR   MeSH; D009135.
DR   MeSH; D058490.
DR   MeSH; D058499.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0209:Deafness.
//
ID   Myofibromatosis, infantile 1.
AC   DI-03815
AR   IMF1.
DE   A rare mesenchymal disorder characterized by the development of benign
DE   tumors in the skin, striated muscles, bones, and, more rarely,
DE   visceral organs. Subcutaneous or soft tissue nodules commonly involve
DE   the skin of the head, neck, and trunk. Skeletal and muscular lesions
DE   occur in about half of the patients. Lesions may be solitary or
DE   multicentric, and they may be present at birth or become apparent in
DE   early infancy or occasionally in adult life. Visceral lesions are
DE   associated with high morbidity and mortality.
SY   CGF.
SY   Congenital generalized fibromatosis.
SY   Juvenile myofibromatosis.
DR   MIM; 228550; phenotype.
DR   MedGen; C0432284.
DR   MedGen; C1856768.
DR   MeSH; D018224.
//
ID   Myofibromatosis, infantile 2.
AC   DI-03816
AR   IMF2.
DE   A rare mesenchymal disorder characterized by the development of benign
DE   tumors in the skin, striated muscles, bones, and, more rarely,
DE   visceral organs. Subcutaneous or soft tissue nodules commonly involve
DE   the skin of the head, neck, and trunk. Skeletal and muscular lesions
DE   occur in about half of the patients. Lesions may be solitary or
DE   multicentric, and they may be present at birth or become apparent in
DE   early infancy or occasionally in adult life. Visceral lesions are
DE   associated with high morbidity and mortality.
DR   MIM; 615293; phenotype.
DR   MedGen; C3809084.
DR   MedGen; CN177831.
DR   MeSH; D018224.
//
ID   Myoglobinuria, acute recurrent, autosomal recessive.
AC   DI-01227
AR   ARARM.
DE   Recurrent myoglobinuria is characterized by recurrent attacks of
DE   rhabdomyolysis (necrosis or disintegration of skeletal muscle)
DE   associated with muscle pain and weakness and followed by excretion of
DE   myoglobin in the urine. Renal failure may occasionally occur.
SY   Acute recurrent rhabdomyolysis.
SY   Familial paroxysmal paralytic myoglobinuria.
DR   MIM; 268200; phenotype.
DR   MedGen; C1849386.
DR   MedGen; CN068857.
DR   MeSH; D009212.
//
ID   Myokymia isolated 1.
AC   DI-00793
AR   MK1.
DE   A condition characterized by spontaneous involuntary contraction of
DE   muscle fiber groups that can be observed as vermiform movement of the
DE   overlying skin. Electromyography typically shows continuous motor unit
DE   activity with spontaneous oligo- and multiplet-discharges of high
DE   intraburst frequency (myokymic discharges). Isolated spontaneous
DE   muscle twitches occur in many persons and have no grave significance.
DR   MIM; 160120; phenotype.
DR   MedGen; C1834559.
DR   MedGen; C2674766.
DR   MeSH; D020385.
//
ID   Myopathy due to myoadenylate deaminase deficiency.
AC   DI-00039
AR   MMDD.
DE   A metabolic disorder resulting in exercise-related myopathy. It is
DE   characterized by exercise-induced muscle aches, cramps, and early
DE   fatigue.
SY   Adenosine monophosphate deaminase deficiency muscle type.
SY   AMPD1 deficiency.
SY   AMP deaminase deficiency muscle type.
SY   MAD deficiency.
SY   Myoadenylate deaminase deficiency.
DR   MIM; 615511; phenotype.
DR   MedGen; C0268123.
DR   MedGen; C3714933.
DR   MeSH; D008661.
//
ID   Myopathy with exercise intolerance Swedish type.
AC   DI-02019
AR   MEIS.
DE   Autosomal recessive metabolic disease characterized by lifelong severe
DE   exercise intolerance, in which minor exertion causes fatigue of active
DE   muscles, shortness of breath, and cardiac palpitations in association
DE   with lactic acidosis. The biochemical phenotype is characterized by a
DE   deficiency in mitochondrial iron-sulfur proteins and impaired muscle
DE   oxidative metabolism.
SY   Hereditary myopathy with lactic acidosis.
SY   HML.
SY   Myoglobinuria due to abnormal glycolysis.
SY   Myopathy with deficiency of succinate dehydrogenase and aconitase.
DR   MIM; 255125; phenotype.
DR   MedGen; C1850718.
//
ID   Myopathy with extrapyramidal signs.
AC   DI-04058
AR   MPXPS.
DE   An autosomal recessive disorder characterized by early-onset proximal
DE   muscle weakness with a static course and moderately to grossly
DE   elevated serum creatine kinase levels accompanied by learning
DE   difficulties. Most patients develop subtle extrapyramidal motor signs
DE   that progress to a debilitating disorder of involuntary movement with
DE   variable features, including chorea, tremor, dystonic posturing and
DE   orofacial dyskinesia. Additional variable features include ataxia,
DE   microcephaly, ophthalmoplegia, ptosis, optic atrophy and axonal
DE   peripheral neuropathy.
DR   MIM; 615673; phenotype.
DR   MedGen; C3810285.
DR   MedGen; CN185296.
DR   MeSH; D007859.
DR   MeSH; D009069.
DR   MeSH; D009135.
//
ID   Myopathy with lactic acidosis and sideroblastic anemia 1.
AC   DI-02020
AR   MLASA1.
DE   A rare oxidative phosphorylation disorder specific to skeletal muscle
DE   and bone marrow. Affected individuals manifest progressive muscle
DE   weakness, exercise intolerance, lactic acidosis, sideroblastic anemia
DE   and delayed growth.
SY   Mitochondrial myopathy and sideroblastic anemia.
DR   MIM; 600462; phenotype.
DR   MedGen; C1838103.
DR   MeSH; D000140.
DR   MeSH; D000756.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Myopathy with lactic acidosis and sideroblastic anemia 2.
AC   DI-02902
AR   MLASA2.
DE   A rare oxidative phosphorylation disorder specific to skeletal muscle
DE   and bone marrow. Affected individuals manifest sideroblastic anemia,
DE   progressive lethargy, muscle weakness, and exercise intolerance
DE   associated with persistent lactic acidemia.
DR   MIM; 613561; phenotype.
DR   MedGen; C3150802.
DR   MeSH; D000140.
DR   MeSH; D000756.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis.
AC   DI-06552
AR   MMCKR.
DE   An autosomal recessive muscular disorder characterized by mild muscle
DE   weakness, early fatigue after mild to moderate physical exertion,
DE   exercise-induced muscle pain, variable susceptibility to episodes of
DE   rhabdomyolysis, and elevated serum creatine kinase levels. Rarely,
DE   affected individuals may demonstrate cardiac involvement, including
DE   left ventricular dysfunction or rhythm abnormalities.
DR   MIM; 620138; phenotype.
DR   MedGen; CN322496.
DR   MeSH; D009135.
//
ID   Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant.
AC   DI-06732
AR   MRUPAV.
DE   An autosomal dominant, slowly progressive myopathy characterized by
DE   skeletal muscle weakness variably affecting the distal or proximal
DE   lower limbs. Some patients may also have upper limb involvement or
DE   neck muscle weakness. Skeletal muscle biopsy shows distinctive
DE   myopathic features including rimmed ubiquitin-positive autophagic
DE   vacuolation and abnormal subsarcolemmal protein aggregation.
SY   Vacuolar Neuromyopathy.
DR   MIM; 601846; phenotype.
DR   MedGen; C1866139.
DR   MeSH; D009136.
//
ID   Myopathy, autosomal recessive, with rigid spine and distal joint contractures.
AC   DI-04804
AR   MRRSDC.
DE   An autosomal recessive degenerative myopathy characterized by muscle
DE   weakness initially involving the proximal lower limbs, followed by
DE   distal upper and lower limb muscle weakness and atrophy. Other
DE   features include joint contractures, rigid spine, and restricted
DE   pulmonary function. Cardiac involvement has been observed in some
DE   patients. Disease onset is in the first or second decades of life.
SY   LGMD2Y.
SY   Limb-girdle muscular dystrophy 2Y.
SY   Muscular dystrophy, limb-girdle, type 2Y.
DR   MIM; 617072; phenotype.
DR   MedGen; CN237798.
DR   MeSH; D049288.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Myopathy, centronuclear, 1.
AC   DI-00252
AR   CNM1.
DE   A congenital muscle disorder characterized by progressive muscular
DE   weakness and wasting involving mainly limb girdle, trunk, and neck
DE   muscles. It may also affect distal muscles. Weakness may be present
DE   during childhood or adolescence or may not become evident until the
DE   third decade of life. Ptosis is a frequent clinical feature. The most
DE   prominent histopathologic features include high frequency of centrally
DE   located nuclei in muscle fibers not secondary to regeneration, radial
DE   arrangement of sarcoplasmic strands around the central nuclei, and
DE   predominance and hypotrophy of type 1 fibers.
SY   Autosomal dominant myotubular myopathy.
SY   Centronuclear myopathy autosomal dominant.
DR   MIM; 160150; phenotype.
DR   MedGen; C1834558.
DR   MeSH; D020914.
//
ID   Myopathy, centronuclear, 2.
AC   DI-00253
AR   CNM2.
DE   A congenital muscle disorder characterized by progressive muscular
DE   weakness and wasting involving mainly limb girdle, trunk, and neck
DE   muscles. It may also affect distal muscles. Weakness may be present
DE   during childhood or adolescence or may not become evident until the
DE   third decade of life. Ptosis is a frequent clinical feature. The most
DE   prominent histopathologic features include high frequency of centrally
DE   located nuclei in muscle fibers not secondary to regeneration, radial
DE   arrangement of sarcoplasmic strands around the central nuclei, and
DE   predominance and hypotrophy of type 1 fibers.
SY   Autosomal recessive myotubular myopathy.
SY   Centronuclear myopathy autosomal recessive.
DR   MIM; 255200; phenotype.
DR   MedGen; C0410204.
DR   MeSH; D020914.
//
ID   Myopathy, centronuclear, 4.
AC   DI-03519
AR   CNM4.
DE   A congenital muscle disorder characterized by progressive muscular
DE   weakness and wasting involving mainly limb girdle, trunk, and neck
DE   muscles. It may also affect distal muscles. Weakness may be present
DE   during childhood or adolescence or may not become evident until the
DE   third decade of life. Ptosis is a frequent clinical feature. The most
DE   prominent histopathologic features include high frequency of centrally
DE   located nuclei in muscle fibers not secondary to regeneration, radial
DE   arrangement of sarcoplasmic strands around the central nuclei, and
DE   predominance and hypotrophy of type 1 fibers.
DR   MIM; 614807; phenotype.
DR   MedGen; C3553709.
DR   MedGen; CN143718.
DR   MeSH; D020914.
//
ID   Myopathy, centronuclear, 5.
AC   DI-04210
AR   CNM5.
DE   A form of centronuclear myopathy, a congenital muscle disorder
DE   characterized by progressive muscular weakness and wasting involving
DE   mainly limb girdle, trunk, and neck muscles. It may also affect distal
DE   muscles. Weakness may be present during childhood or adolescence or
DE   may not become evident until the third decade of life. Ptosis is a
DE   frequent clinical feature. The most prominent histopathologic features
DE   include high frequency of centrally located nuclei in muscle fibers
DE   not secondary to regeneration, radial arrangement of sarcoplasmic
DE   strands around the central nuclei, and predominance and hypotrophy of
DE   type 1 fibers. CNM5 features include severe neonatal hypotonia with
DE   respiratory insufficiency, difficulty feeding, and delayed motor
DE   development. Some patients die in infancy, and some develop dilated
DE   cardiomyopathy.
DR   MIM; 615959; phenotype.
DR   MedGen; CN218417.
DR   MeSH; D020914.
//
ID   Myopathy, centronuclear, 6, with fiber-type disproportion.
AC   DI-05139
AR   CNM6.
DE   A form of centronuclear myopathy, a congenital muscle disorder
DE   characterized by progressive muscular weakness and wasting involving
DE   mainly limb girdle, trunk, and neck muscles. It may also affect distal
DE   muscles. Weakness may be present during childhood or adolescence or
DE   may not become evident until the third decade of life. Ptosis is a
DE   frequent clinical feature. The most prominent histopathologic features
DE   include high frequency of centrally located nuclei in muscle fibers
DE   not secondary to regeneration, radial arrangement of sarcoplasmic
DE   strands around the central nuclei, and predominance and hypotrophy of
DE   type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form
DE   with onset in infancy or early childhood.
DR   MIM; 617760; phenotype.
DR   MedGen; CN596208.
DR   MeSH; D020914.
//
ID   Myopathy, centronuclear, X-linked.
AC   DI-00254
AR   CNMX.
DE   A congenital muscle disorder characterized by progressive muscular
DE   weakness and wasting involving mainly limb girdle, trunk, and neck
DE   muscles. It may also affect distal muscles. Weakness may be present
DE   during childhood or adolescence or may not become evident until the
DE   third decade of life. Ptosis is a frequent clinical feature. The most
DE   prominent histopathologic features include high frequency of centrally
DE   located nuclei in muscle fibers not secondary to regeneration, radial
DE   arrangement of sarcoplasmic strands around the central nuclei, and
DE   predominance and hypotrophy of type 1 fibers.
SY   MTM1.
SY   Myotubular myopathy type 1.
SY   X-linked myotubular myopathy.
SY   XLMTM.
DR   MIM; 310400; phenotype.
DR   MedGen; C0410203.
DR   MeSH; D020914.
//
ID   Myopathy, distal, 1.
AC   DI-01873
AR   MPD1.
DE   A muscular disorder characterized by early-onset selective weakness of
DE   the great toe and ankle dorsiflexors, followed by weakness of the
DE   finger extensors. Mild proximal weakness occasionally develops years
DE   later after the onset of the disease.
SY   Distal myopathy 1.
SY   Laing distal myopathy.
SY   Laing early-onset distal myopathy.
SY   Myopathy distal early-onset autosomal dominant.
SY   Myopathy late distal hereditary.
DR   MIM; 160500; phenotype.
DR   MedGen; CN074249.
DR   MeSH; D049310.
//
ID   Myopathy, distal, 3.
AC   DI-06754
AR   MPD3.
DE   An autosomal dominant skeletal muscle disorder characterized by adult
DE   onset of slowly progressive distal muscular weakness and atrophy
DE   affecting the upper and lower limbs, leading to difficulties using the
DE   hands and walking difficulties. Proximal muscle involvement may occur
DE   later in the disease, but patients typically remain ambulatory. Muscle
DE   biopsy shows myopathic changes with rimmed vacuoles.
SY   Finnish upper limb onset distal myopathy.
DR   MIM; 610099; phenotype.
DR   MedGen; C1864706.
DR   MeSH; D049310.
//
ID   Myopathy, distal, 4.
AC   DI-03144
AR   MPD4.
DE   A slowly progressive muscular disorder characterized by distal muscle
DE   weakness and atrophy affecting the upper and lower limbs. Onset occurs
DE   around the third to fourth decades of life, and patients remain
DE   ambulatory even after long disease duration. Muscle biopsy shows non-
DE   specific changes with no evidence of rods, necrosis, or inflammation.
SY   Williams distal myopathy.
DR   MIM; 614065; phenotype.
DR   MedGen; C3279722.
DR   MeSH; D049310.
//
ID   Myopathy, distal, 5.
AC   DI-04761
AR   MPD5.
DE   A form of distal myopathy, a group of muscular disorders characterized
DE   by progressive muscular weakness and muscle atrophy beginning in the
DE   hands, the legs or the feet. MPD5 is an autosomal recessive form,
DE   predominantly affecting the lower limbs.
DR   MIM; 617030; phenotype.
DR   MedGen; CN237401.
DR   MeSH; D049310.
//
ID   Myopathy, distal, 6, adult onset, autosomal dominant.
AC   DI-05701
AR   MPD6.
DE   An autosomal dominant muscular disorder characterized by adult onset
DE   of asymmetric distal muscle weakness, primarily affecting the lower
DE   limbs and resulting in gait difficulties. Some patients develop
DE   involvement of proximal and upper limb muscles.
DR   MIM; 618655; phenotype.
DR   MedGen; CN262666.
DR   MeSH; D009135.
//
ID   Myopathy, distal, 7, adult-onset, X-linked.
AC   DI-06378
AR   MPD7.
DE   An X-linked recessive, slowly progressive muscular disorder
DE   characterized by adult onset of distal muscle weakness predominantly,
DE   affecting the lower limbs. Some patients also have proximal muscle
DE   weakness. Histopathological and electron microscopic analysis of
DE   patient muscle biopsies reveals myopathic findings with rimmed
DE   vacuoles and the presence of sarcoplasmic inclusions, some with
DE   amyloid-like characteristics.
DR   MIM; 301075; phenotype.
DR   MedGen; CN308192.
DR   MeSH; D009135.
//
ID   Myopathy, distal, Tateyama type.
AC   DI-03297
AR   MPDT.
DE   A disorder characterized by progressive muscular atrophy and muscle
DE   weakness beginning in the hands, the legs, or the feet. Muscle atrophy
DE   may be restricted to the small muscles of the hands and feet.
DR   MIM; 614321; phenotype.
DR   MedGen; C3280443.
DR   MedGen; CN118020.
DR   MeSH; D049310.
//
ID   Myopathy, distal, with rimmed vacuoles.
AC   DI-04886
AR   DMRV.
DE   An autosomal dominant myopathy with adult onset, characterized by
DE   muscle weakness of the distal upper and lower limbs, walking
DE   difficulties, and proximal weakness of the shoulder girdle muscles.
DE   Muscle biopsy shows rimmed vacuoles.
SY   MSP4.
SY   Multisystem proteinopathy 4.
DR   MIM; 617158; phenotype.
DR   MedGen; CN239822.
DR   MeSH; D009135.
//
ID   Myopathy, epilepsy, and progressive cerebral atrophy.
AC   DI-05924
AR   MEPCA.
DE   An autosomal recessive disorder characterized by severe, early lethal
DE   neurodegeneration, myasthenic and myopathic features, progressive
DE   cerebral atrophy with myelination defects, and intractable epilepsy.
DR   MIM; 619036; phenotype.
DR   MedGen; CN292948.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Myopathy, isolated mitochondrial, autosomal dominant.
AC   DI-04333
AR   IMMD.
DE   A mitochondrial myopathy presenting with severe exercise intolerance,
DE   progressive proximal weakness, and lactic acidemia. The disorder is
DE   slowly progressive, with later involvement of facial muscles, muscles
DE   of the upper limbs, and distal muscles.
DR   MIM; 616209; phenotype.
DR   MedGen; CN225582.
DR   MeSH; D017240.
//
ID   Myopathy, lactic acidosis, and sideroblastic anemia 3.
AC   DI-04410
AR   MLASA3.
DE   A rare mitochondrial disorder characterized by sideroblastic anemia,
DE   muscle weakness, and exercise intolerance associated with persistent
DE   lactic acidemia. Additional MLASA3 features are failure to thrive,
DE   hearing loss, epilepsy, stroke-like episodes, and severe developmental
DE   delay.
DR   MIM; 500011; phenotype.
DR   MedGen; CN230751.
DR   MeSH; D000140.
DR   MeSH; D000756.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay.
AC   DI-02638
AR   MPMCD.
DE   A disease characterized by progressive myopathy and partial combined
DE   respiratory-chain deficiency, congenital cataract, sensorineural
DE   hearing loss, and developmental delay.
SY   Combined mitochondrial complex deficiency.
SY   Myopathy with cataract and combined respiratory chain deficiency.
DR   MIM; 613076; phenotype.
DR   MedGen; C2751320.
DR   MeSH; D017240.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Myopathy, mitochondrial, and ataxia.
AC   DI-05086
AR   MMYAT.
DE   A neuromuscular disorder characterized by muscle weakness and atrophy,
DE   ataxia, poor growth, delayed motor development, dysdiadochokinesia,
DE   dysmetria and additional neurologic features. Some patients show
DE   skeletal and endocrine anomalies, as well as behavioral psychiatric
DE   manifestations. MMYAT transmission pattern is consistent with
DE   autosomal dominant inheritance in some families, and autosomal
DE   recessive inheritance in others.
DR   MIM; 617675; phenotype.
DR   MedGen; CN484737.
DR   MeSH; D009468.
//
ID   Myopathy, myofibrillar, 1.
AC   DI-01481
AR   MFM1.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM1 is characterized by skeletal
DE   muscle weakness associated with cardiac conduction blocks,
DE   arrhythmias, restrictive heart failure, and accumulation of desmin-
DE   reactive deposits in cardiac and skeletal muscle cells.
SY   Arrhythmogenic right ventricular cardiomyopathy 7.
SY   ARVC7.
SY   ARVD7.
SY   Autosomal dominant inclusion body myopathy 1.
SY   CDCD3.
SY   CMD1F and LGMD1D.
SY   Desminopathy primary.
SY   Desmin-related myopathy.
SY   Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy.
SY   Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D.
SY   Dilated cardiomyopathy with conduction defect and muscular dystrophy.
SY   DRM.
SY   Familial arrhythmogenic right ventricular dysplasia 7.
SY   LGMD2R.
SY   Limb-girdle muscular dystrophy 2R.
SY   MFM desmin-related.
SY   Muscular dystrophy, limb-girdle, type 2R.
SY   Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.
SY   Myopathy myofibrillar desmin-related.
DR   MIM; 601419; phenotype.
DR   MedGen; C1832370.
DR   MeSH; D020914.
KW   KW-0911:Desmin-related myopathy.
//
ID   Myopathy, myofibrillar, 10.
AC   DI-05925
AR   MFM10.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM10 is an autosomal recessive
DE   disorder characterized by muscle pain, cramping, exercise fatigue, and
DE   progressive muscle rigidity.
DR   MIM; 619040; phenotype.
DR   MedGen; CN293343.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 11.
AC   DI-06043
AR   MFM11.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM11 is an autosomal recessive form
DE   characterized by onset of slowly progressive proximal muscle weakness
DE   in the first decade of life. More variable features may include
DE   decreased respiratory forced vital capacity, variable cardiac
DE   features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic
DE   changes with variation in fiber size, type 1 fiber predominance,
DE   centralized nuclei, eccentrically placed core-like lesions, and
DE   distortion of the myofibrillary pattern with Z-line streaming and
DE   abnormal myofibrillar aggregates or inclusions.
DR   MIM; 619178; phenotype.
DR   MedGen; CN295281.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy.
AC   DI-06176
AR   MFM12.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM12 is an autosomal recessive, severe
DE   form characterized by progressive myopathy with onset shortly after
DE   birth, tremor or clonus at birth, and cardiomyopathy usually leading
DE   to death by 6 months of age. Skeletal and cardiac muscle tissues show
DE   fiber-type disproportion with small type I and normal sized type II
DE   fibers, and myofibrillar disorganization.
DR   MIM; 619424; phenotype.
DR   MedGen; CN300317.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 2.
AC   DI-01179
AR   MFM2.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM2 is characterized by weakness of
DE   the proximal and distal limb muscles, weakness of the neck,
DE   velopharynx and trunk muscles, hypertrophic cardiomyopathy, and
DE   cataract in a subset of patients.
SY   Alpha-B crystallinopathy.
SY   Alpha-B crystallinopathy with cataract.
SY   Desmin-related myopathy with cataract.
SY   MFM alpha-B crystallin-related.
SY   Myofibrillar myopathy alpha-B crystallin-related.
SY   Myofibrillar myopathy with or without cataract and/or cardiomyopathy.
SY   Myopathy cardioskeletal desmin-related with cataract.
SY   Myopathy desmin-related associated with mutation in the CRYAB gene.
DR   MIM; 608810; phenotype.
DR   MedGen; C1837317.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 3.
AC   DI-02022
AR   MFM3.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM3 is characterized by progressive
DE   skeletal muscle weakness greater distally than proximally, tight heel
DE   cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some
DE   patients. Affected muscle exhibits disorganization and streaming of
DE   the Z-line, presence of large hyaline structures, excessive
DE   accumulation of myotilin and other ectopically expressed proteins and
DE   prominent congophilic deposits.
SY   LGMD1.
SY   LGMD1A.
SY   Limb-girdle muscular dystrophy 1A.
SY   MFM myotilin-related.
SY   Muscular dystrophy, limb-girdle, type 1.
SY   Muscular dystrophy, limb-girdle, type 1A.
SY   Myopathy myofibrillar myotylin-related.
SY   Myotilinopathy.
SY   Spheroid body myopathy.
DR   MIM; 609200; phenotype.
DR   MedGen; C1836607.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 4.
AC   DI-02467
AR   MFM4.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM4 is characterized by distal and
DE   proximal muscle weakness with signs of cardiomyopathy and neuropathy.
SY   Markesbery-Griggs distal myopathy.
DR   MIM; 609452; phenotype.
DR   MedGen; C1836155.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 5.
AC   DI-01208
AR   MFM5.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM5 is characterized by onset in
DE   adulthood, clinical features of a limb-girdle myopathy, and focal
DE   myofibrillar destruction.
SY   Autosomal dominant filaminopathy.
SY   MFM filamin C-related.
SY   Myopathy myofibrillar filamin C-related.
DR   MIM; 609524; phenotype.
DR   MedGen; C1836050.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 6.
AC   DI-02541
AR   MFM6.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM6 is characterized by early-onset of
DE   severe, progressive, diffuse muscle weakness associated with
DE   cardiomyopathy, severe respiratory insufficiency during adolescence,
DE   and a rigid spine in some patients.
SY   MFM BAG3-related.
SY   Muscular dystrophy Selcen type.
SY   Myopathy myofibrillar BAG3-related.
DR   MIM; 612954; phenotype.
DR   MedGen; C2751831.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 7.
AC   DI-04834
AR   MFM7.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM7 is an autosomal recessive form,
DE   clinically characterized by early childhood onset of slowly
DE   progressive muscle weakness and mild atrophy primarily affecting the
DE   lower limbs, associated with joint contractures.
DR   MIM; 617114; phenotype.
DR   MedGen; CN238489.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 8.
AC   DI-04890
AR   MFM8.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFM8 is an autosomal recessive form,
DE   clinically characterized by slowly progressive symmetrical weakness
DE   affecting both proximal and distal muscles, with normal to moderately
DE   elevated creatine kinase. Mild facial weakness, a high palate, nasal
DE   speech, and swallowing difficulties are typical features, mild
DE   restrictive lung disease is common, and late-onset cardiac involvement
DE   may be present.
DR   MIM; 617258; phenotype.
DR   MedGen; CN239575.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, 9, with early respiratory failure.
AC   DI-01727
AR   MFM9.
DE   An autosomal dominant myopathy characterized by adulthood onset of
DE   weakness in proximal, distal, axial and respiratory muscles. Pelvic
DE   girdle weakness, foot drop and neck weakness are the main symptoms at
DE   onset, but ultimately the weakness usually involves the proximal
DE   compartment of both upper and lower limbs. Additional features include
DE   variable degrees of Achilles tendon contractures, spinal rigidity and
DE   muscle hypertrophy. Respiratory involvement often leads to requirement
DE   for non-invasive ventilation support.
SY   Edstrom myopathy.
SY   Hereditary myopathy with early respiratory failure.
SY   HMERF.
SY   MPRM.
SY   Myopathy, distal, with early respiratory failure, autosomal dominant.
SY   Myopathy, proximal, with early respiratory muscle involvement.
DR   MIM; 603689; phenotype.
DR   MedGen; C1863599.
DR   MeSH; D009135.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.
AC   DI-03083
AR   MFMFIH-CRYAB.
DE   A form of myofibrillar myopathy, a group of chronic neuromuscular
DE   disorders characterized at ultrastructural level by disintegration of
DE   the sarcomeric Z disk and myofibrils, and replacement of the normal
DE   myofibrillar markings by small dense granules, or larger hyaline
DE   masses, or amorphous material. MFMFIH-CRYAB has onset in the first
DE   weeks of life after a normal neonatal period. Affected infants show
DE   rapidly progressive muscular rigidity of the trunk and limbs
DE   associated with increasing respiratory difficulty resulting in death
DE   before age 3 years.
SY   MFM fatal infantile hypertonic alpha-B crystallin-related.
DR   MIM; 613869; phenotype.
DR   MedGen; C3151236.
DR   MeSH; D020914.
KW   KW-1060:Myofibrillar myopathy.
//
ID   Myopathy, sarcoplasmic body.
AC   DI-06630
AR   MYOSB.
DE   An autosomal dominant, slowly progressive muscle disorder manifesting
DE   in adulthood with proximal and axial weakness that progresses to
DE   involve distal muscles. Patients may lose ambulation after a long
DE   disease course, and some individuals develop respiratory or cardiac
DE   symptoms. Muscle pathology features include sarcoplasmic bodies in
DE   skeletal and cardiac muscles.
SY   Myoglobinopathy.
DR   MIM; 620286; phenotype.
DR   MedGen; CN323719.
DR   MeSH; D009135.
//
ID   Myopathy, scapulohumeroperoneal.
AC   DI-04672
AR   SHPM.
DE   An autosomal dominant muscular disorder characterized by progressive
DE   muscle weakness with initial scapulo-humeral-peroneal and distal
DE   distribution. Over time, muscle weakness progresses to proximal muscle
DE   groups. Clinical characteristics include scapular winging, mild lower
DE   facial weakness, foot drop due to foot eversion and dorsiflexion
DE   weakness, and selective muscle atrophy. Age at onset and disease
DE   progression are variable.
DR   MIM; 616852; phenotype.
DR   MedGen; CN235510.
DR   MeSH; D009135.
//
ID   Myopathy, tubular aggregate, 1.
AC   DI-03765
AR   TAM1.
DE   A rare congenital myopathy characterized by regular arrays of membrane
DE   tubules on muscle biopsies without additional histopathological
DE   hallmarks. Tubular aggregates in muscle are structures of variable
DE   appearance consisting of an outer tubule containing either one or more
DE   microtubule-like structures or amorphous material. They may occur in a
DE   variety of circumstances, including inherited myopathies, alcohol- and
DE   drug-induced myopathies, exercise-induced cramps or muscle weakness.
SY   TAM.
SY   Tubular aggregate myopathy.
DR   MIM; 160565; phenotype.
DR   MedGen; C0410207.
DR   MeSH; D020914.
//
ID   Myopathy, tubular aggregate, 2.
AC   DI-04147
AR   TAM2.
DE   A rare congenital myopathy characterized by regular arrays of membrane
DE   tubules on muscle biopsies without additional histopathological
DE   hallmarks. Tubular aggregates in muscle are structures of variable
DE   appearance consisting of an outer tubule containing either one or more
DE   microtubule-like structures or amorphous material. TAM2 patients have
DE   myopathy and pupillary abnormalities.
DR   MIM; 615883; phenotype.
DR   MedGen; CN189718.
DR   MeSH; D020914.
//
ID   Myopathy, vacuolar, with CASQ1 aggregates.
AC   DI-04342
AR   VMCQA.
DE   An autosomal dominant mild muscle disorder characterized by adult
DE   onset of muscle cramping and weakness as well as increased levels of
DE   serum creatine kinase. The disorder is not progressive, and some
DE   patients may be asymptomatic.
DR   MIM; 616231; phenotype.
DR   MedGen; CN226298.
DR   MeSH; D020914.
//
ID   Myopathy, X-linked, with excessive autophagy.
AC   DI-02454
AR   MEAX.
DE   A muscle disorder characterized by childhood early onset of a slowly
DE   progressive proximal limb muscle weakness (especially in legs) and
DE   elevation of serum creatine kinase, without evidence of cardiac,
DE   respiratory or central nervous system involvement. Histopathological
DE   analysis reveals diseased muscle fibers that are not necrotic, but
DE   show abnormal autophagic vacuolation as a manifestation of excessive
DE   autophagic activity in skeletal muscle cells.
SY   XMEA.
DR   MIM; 310440; phenotype.
DR   MedGen; C1839615.
DR   MeSH; D009135.
//
ID   Myopathy, X-linked, with postural muscle atrophy.
AC   DI-02455
AR   XMPMA.
DE   A progressive muscular dystrophy with onset in adulthood. Affected
DE   individuals develop a proximal myopathy characterized by specific
DE   atrophy of postural muscles, limited neck flexion, bent spine,
DE   contractures of the Achilles tendon, respiratory problems, and
DE   cardiomyopathy. Patients may show muscle hypertrophy in the early
DE   stages of the disorder.
DR   MIM; 300696; phenotype.
DR   MedGen; C2678055.
DR   MeSH; D009136.
//
ID   Myopia 21, autosomal dominant.
AC   DI-03177
AR   MYP21.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 614167; phenotype.
DR   MedGen; C3279997.
DR   MeSH; D009216.
//
ID   Myopia 22, autosomal dominant.
AC   DI-03878
AR   MYP22.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 615420; phenotype.
DR   MedGen; C3809464.
DR   MedGen; CN180085.
DR   MeSH; D009216.
//
ID   Myopia 23, autosomal recessive.
AC   DI-03893
AR   MYP23.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 615431; phenotype.
DR   MedGen; C3809482.
DR   MedGen; CN180161.
DR   MeSH; D009216.
//
ID   Myopia 24, autosomal dominant.
AC   DI-04185
AR   MYP24.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 615946; phenotype.
DR   MedGen; CN207695.
DR   MeSH; D009216.
//
ID   Myopia 25, autosomal dominant.
AC   DI-04910
AR   MYP25.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 617238; phenotype.
DR   MedGen; CN239544.
DR   MeSH; D009216.
//
ID   Myopia 26, X-linked, female-limited.
AC   DI-05150
AR   MYP26.
DE   A form of myopia, a refractive error of the eye, in which parallel
DE   rays from a distant object come to focus in front of the retina,
DE   vision being better for near objects than for far. MYP26 is
DE   characterized by typical tigroid fundus changes commonly seen in early
DE   onset high myopia, and an unusual pattern of X-linked female-limited
DE   inheritance.
DR   MIM; 301010; phenotype.
DR   MedGen; CN708878.
DR   MeSH; D009216.
//
ID   Myopia 27, autosomal dominant.
AC   DI-05775
AR   MYP27.
DE   A form of myopia, a refractive error of the eye, in which parallel
DE   rays from a distant object come to focus in front of the retina,
DE   vision being better for near objects than for far. MYP27 patients are
DE   affected by early-onset high myopia with increased axial lengths.
DE   Fundus changes include optic nerve head crescent and tigroid
DE   appearance of the posterior retina.
DR   MIM; 618827; phenotype.
DR   MedGen; CN263398.
DR   MeSH; D009216.
//
ID   Myopia 28, autosomal recessive.
AC   DI-06357
AR   MYP28.
DE   A form of myopia, a refractive error of the eye, in which parallel
DE   rays from a distant object come to focus in front of the retina,
DE   vision being better for near objects than for far. MYP28 patients are
DE   affected by early-onset high myopia in the first decade of life.
DE   Retinal detachment may occur, and early-onset cataract has been
DE   reported.
DR   MIM; 619781; phenotype.
DR   MedGen; CN306975.
DR   MeSH; D009216.
//
ID   Myopia 6.
AC   DI-03792
AR   MYP6.
DE   A refractive error of the eye, in which parallel rays from a distant
DE   object come to focus in front of the retina, vision being better for
DE   near objects than for far.
DR   MIM; 608908; phenotype.
DR   MedGen; C1837148.
DR   MeSH; D009216.
//
ID   Myopia, high, with cataract and vitreoretinal degeneration.
AC   DI-03289
AR   MCVD.
DE   A disorder characterized by severe myopia with variable expressivity
DE   of cataract and vitreoretinal degeneration. Some patients manifest
DE   lens subluxation, lens instability and retinal detachment.
DR   MIM; 614292; phenotype.
DR   MedGen; C3280346.
DR   MeSH; D009216.
//
ID   Myosclerosis autosomal recessive.
AC   DI-01246
AR   MYOSAR.
DE   A condition characterized by chronic inflammation of skeletal muscle
DE   with hyperplasia of the interstitial connective tissue. The clinical
DE   picture includes slender muscles with firm 'woody' consistency and
DE   restriction of movement of many joints because of muscle contractures.
SY   Congenital myosclerosis of Lowenthal.
SY   Myosclerotic myopathy.
DR   MIM; 255600; phenotype.
DR   MedGen; C1850671.
DR   MeSH; D003095.
DR   MeSH; D003286.
//
ID   Myotonia congenita, autosomal dominant.
AC   DI-01216
AR   MCAD.
DE   A non-dystrophic skeletal muscle disorder characterized by muscle
DE   stiffness and an inability of the muscle to relax after voluntary
DE   contraction. Most patients have symptom onset in the legs, which later
DE   progresses to the arms, neck, and facial muscles. Many patients show
DE   marked hypertrophy of the lower limb muscles. The autosomal dominant
DE   form (Thomsen disease) is less common and less severe than the
DE   autosomal recessive one (Becker disease). A milder form of autosomal
DE   dominant myotonia is characterized by isolated myotonia without muscle
DE   weakness, hypotrophy, or hypertrophy (myotonia levior).
SY   Myotonia levior.
SY   THD.
SY   Thomsen disease.
DR   MIM; 160800; phenotype.
DR   MedGen; C0270959.
DR   MedGen; C2936781.
DR   MeSH; D009224.
//
ID   Myotonia congenita, autosomal recessive.
AC   DI-01247
AR   MCAR.
DE   A non-dystrophic skeletal muscle disorder characterized by muscle
DE   stiffness and an inability of the muscle to relax after voluntary
DE   contraction. Most patients have symptom onset in the legs, which later
DE   progresses to the arms, neck, and facial muscles. Many patients show
DE   marked hypertrophy of the lower limb muscles. The autosomal recessive
DE   form (Becker disease) is more severe than the autosomal dominant one
DE   (Thomsen disease).
SY   Becker disease.
SY   Generalized myotonia.
DR   MIM; 255700; phenotype.
DR   MedGen; C0751360.
DR   MeSH; D009224.
//
ID   Myotonia SCN4A-related.
AC   DI-00796
AR   MYOSCN4A.
DE   A phenotypically highly variable myotonia aggravated by potassium
DE   loading, and sometimes by cold. Myotonia is characterized by sustained
DE   muscle tensing that prevents muscles from relaxing normally. It causes
DE   muscle stiffness that can interfere with movement. In some people the
DE   stiffness is very mild, while in other cases it may be severe enough
DE   to interfere with walking, running, and other activities of daily
DE   life. Myotonia SCN4A-related includes myotonia permanens and myotonia
DE   fluctuans. In myotonia permanens, the myotonia is generalized and
DE   there is a hypertrophy of the muscle, particularly in the neck and the
DE   shoulder. Attacks of severe muscle stiffness of the thoracic muscles
DE   may be life threatening due to impaired ventilation. In myotonia
DE   fluctuans, the muscle stiffness may fluctuate from day to day,
DE   provoked by exercise.
SY   Myotonia congenita acetazolamide-responsive.
SY   Myotonia congenita atypical.
SY   Myotonia fluctuans.
SY   Myotonia permanens.
SY   Myotonia potassium-aggravated.
SY   SCM.
SY   Sodium channel muscle disease.
DR   MIM; 608390; phenotype.
DR   MedGen; C0752355.
DR   MedGen; C2931826.
DR   MedGen; C3149517.
DR   MeSH; D020967.
//
ID   Myxoid liposarcoma.
AC   DI-03715
AR   MXLIPO.
DE   A soft tissue tumor that tends to occur in the limbs (especially the
DE   thigh) of patients ranging in age from 35 to 55 years. It is defined
DE   by the presence of a hypocellular spindle cell proliferation set in a
DE   myxoid background, often with mucin pooling. Lipoblasts tend to be
DE   small and often monovacuolated and to cluster around vessels or at the
DE   periphery of the lesion.
DR   MIM; 613488; phenotype.
DR   MedGen; C0206634.
DR   MeSH; D018208.
//
ID   N-acetylaspartate deficiency.
AC   DI-03149
AR   NACED.
DE   A metabolic disorder resulting in truncal ataxia, marked developmental
DE   delay, seizures, and secondary microcephaly.
SY   Hypoacetylaspartia.
SY   NAA deficiency.
DR   MIM; 614063; phenotype.
DR   MedGen; C3279716.
DR   MeSH; D000592.
//
ID   N-acetylglutamate synthase deficiency.
AC   DI-02025
AR   NAGSD.
DE   Rare autosomal recessively inherited metabolic disorder leading to
DE   severe neonatal or late-onset hyperammonemia without increased
DE   excretion of orotic acid. Clinical symptoms are somnolence, tachypnea,
DE   feeding difficulties, a severe neurologic presentation characterized
DE   by uncontrollable movements, developmental delay, visual impairment,
DE   failure to thrive and hyperammonemia precipitated by the introduction
DE   of high-protein diet or febrile illness.
SY   Hyperammonemia due to N-acetylglutamate synthetase deficiency.
SY   N-acetylglutamate synthetase deficiency.
SY   NAGS deficiency.
DR   MIM; 237310; phenotype.
DR   MedGen; C0268543.
DR   MeSH; D056806.
//
ID   N-terminal acetyltransferase deficiency.
AC   DI-03266
AR   NATD.
DE   An enzymatic deficiency resulting in postnatal growth failure with
DE   severe delays and dysmorphic features. It is clinically characterized
DE   by wrinkled forehead, prominent eyes, widely opened anterior and
DE   posterior fontanels, downsloping palpebral fissures, thickened lids,
DE   large ears, flared nares, hypoplastic alae, short columella,
DE   protruding upper lip, and microretrognathia. There are also delayed
DE   closing of fontanels and broad great toes. Skin is characterized by
DE   redundancy or laxity with minimal subcutaneous fat, cutaneous
DE   capillary malformations, and very fine hair and eyebrows. Death
DE   results from cardiogenic shock following arrhythmia.
SY   Ogden syndrome.
SY   OGDNS.
DR   MIM; 300855; phenotype.
DR   MedGen; C3275447.
DR   MedGen; CN078801.
DR   MeSH; D001848.
//
ID   Nabais Sa-de Vries syndrome 1.
AC   DI-05805
AR   NSDVS1.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, impaired intellectual development, speech delay, and variable
DE   behavioral abnormalities. Affected individuals show congenital
DE   microcephaly and dysmorphic facial features, including round face,
DE   small palpebral fissures, highly arched eyebrows, and short nose.
SY   Nabais Sa-de Vries syndrome, type 1.
SY   NEDMIDF.
SY   Neurodevelopmental disorder with microcephaly and dysmorphic facies.
DR   MIM; 618828; phenotype.
DR   MedGen; CN272909.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Nabais Sa-de Vries syndrome 2.
AC   DI-05806
AR   NSDVS2.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay apparent from birth, impaired intellectual development, speech
DE   delay, dysmorphic facial features, and additional anomalies including
DE   congenital heart defects, sleep disturbances, hypotonia, and variable
DE   endocrine abnormalities.
SY   Nabais Sa-de Vries syndrome, type 2.
SY   NEDMACE.
SY   Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies.
DR   MIM; 618829; phenotype.
DR   MedGen; CN272910.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Naegeli-Franceschetti-Jadassohn syndrome.
AC   DI-00797
AR   NFJS.
DE   A rare autosomal dominant form of ectodermal dysplasia. The cardinal
DE   features are absence of dermatoglyphics (fingerprints), reticular
DE   cutaneous hyperpigmentation (starting at about the age of 2 years
DE   without a preceding inflammatory stage), palmoplantar keratoderma,
DE   hypohidrosis with diminished sweat gland function and discomfort
DE   provoked by heat, nail dystrophy, and tooth enamel defects.
SY   Naegeli syndrome.
SY   NFJ syndrome.
DR   MIM; 161000; phenotype.
DR   MedGen; C0343111.
DR   MeSH; D004476.
DR   MeSH; D007007.
DR   MeSH; D007645.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Nail disorder, non-syndromic congenital, 1.
AC   DI-03199
AR   NDNC1.
DE   An autosomal recessive nail disorder characterized by a variable
DE   degree of onychauxis (thick nails), hyponychia, and onycholysis of all
DE   nails, with claw-shaped fingernails in some individuals. No other
DE   anomalies of ectodermal tissues, including hair, teeth, sweat glands,
DE   or skin, are noted, and individuals with dysplastic nails have normal
DE   hearing and normal psychomotor development.
SY   Claw-shaped nails.
SY   Nail disorder, non-syndromic congenital, 10.
SY   NDNC10.
SY   Onychauxis hyponychia and onycholysis.
DR   MIM; 161050; phenotype.
DR   MedGen; C3279974.
DR   MeSH; D054039.
//
ID   Nail disorder, non-syndromic congenital, 3.
AC   DI-03200
AR   NDNC3.
DE   A nail disorder characterized by a white appearance of the nail plate
DE   (true leukonychia), the nail bed (pseudoleukonychia), or neither
DE   (apparent leukonychia). Leukonychia may involve all of the nail
DE   (leukonychia totalis) or only part of the nail (leukonychia
DE   partialis), or can appear as one or more transverse bands (leukonychia
DE   striata) or white spots (leukonychia punctata).
SY   Leukonychia partialis.
SY   Leukonychia punctata.
SY   Leukonychia striatus.
SY   Leukonychia totalis.
SY   Leukonychia totalis and/or partialis.
SY   Porcelain nails.
DR   MIM; 151600; phenotype.
DR   MedGen; C0263532.
DR   MedGen; C0544855.
DR   MedGen; C3276977.
DR   MeSH; D009260.
//
ID   Nail disorder, non-syndromic congenital, 4.
AC   DI-01185
AR   NDNC4.
DE   A nail disorder characterized by congenital anonychia or its milder
DE   phenotypic variant hyponychia. Anonychia/hyponychia is the absence or
DE   severe hypoplasia of all fingernails and toenails without significant
DE   bone anomalies.
SY   Anonychia/hyponychia congenita.
SY   Anonychia congenita totalis.
SY   Hyponychia congenita.
DR   MIM; 206800; phenotype.
DR   MedGen; C0265998.
DR   MedGen; C3277900.
DR   MeSH; D009260.
//
ID   Nail disorder, non-syndromic congenital, 8.
AC   DI-01844
AR   NDNC8.
DE   A nail disorder characterized by isolated toenail dystrophy. The nail
DE   changes are most severe in the great toes and consist of the nail
DE   plate being buried in the nail bed with a deformed and narrow free
DE   edge.
SY   Isolated toenail dystrophy.
SY   Isolated toenail dystrophy without skin fragility.
DR   MIM; 607523; phenotype.
DR   MedGen; C1843761.
DR   MeSH; D009260.
//
ID   Nail-patella syndrome.
AC   DI-02026
AR   NPS.
DE   Disease that cause abnormal skeletal patterning and renal dysplasia.
SY   Onychoosteodysplasia.
DR   MIM; 161200; phenotype.
DR   MedGen; C0027341.
//
ID   Nance-Horan syndrome.
AC   DI-02027
AR   NHS.
DE   Rare X-linked disorder characterized by congenital cataracts, dental
DE   anomalies, dysmorphic features, and, in some cases, intellectual
DE   disability. Distinctive dental anomalies are seen in affected males,
DE   including supernumerary incisors and crown shaped permanent teeth.
DE   Characteristic facial features are anteverted pinnae, long face, and
DE   prominent nasal bridge and nose. Carrier females display milder
DE   variable symptoms of disease with lens opacities often involving the
DE   posterior Y sutures, and on occasion dental anomalies and the
DE   characteristic facial features described.
SY   Cataract-dental syndrome.
DR   MIM; 302350; phenotype.
DR   MedGen; C0796085.
//
ID   Nanophthalmos 2.
AC   DI-02028
AR   NNO2.
DE   Rare autosomal recessive disorder of eye development characterized by
DE   extreme hyperopia and small functional eyes.
SY   Nanophthalmia 2.
SY   Nanophthalmos, autosomal recessive.
DR   MIM; 609549; phenotype.
DR   MedGen; C1836006.
DR   MeSH; D008850.
//
ID   Nanophthalmos 4.
AC   DI-04209
AR   NNO4.
DE   A rare disorder of eye development characterized by extreme hyperopia
DE   (farsightedness) and small functional eyes. The cornea and lens are
DE   normal in size and shape. Hyperopia occurs because insufficient growth
DE   along the visual axis places these lensing components too close to the
DE   retina. Nanophthalmic eyes show considerable thickening of both the
DE   choroidal vascular bed and scleral coat, which provide nutritive and
DE   structural support for the retina.
SY   Nanophthalmia 4.
DR   MIM; 615972; phenotype.
DR   MedGen; CN218525.
DR   MeSH; D008850.
//
ID   Narcolepsy 1.
AC   DI-02029
AR   NRCLP1.
DE   Neurological disabling sleep disorder, characterized by excessive
DE   daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-
DE   eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and
DE   sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered
DE   by emotions, which is the most valuable clinical feature used to
DE   diagnose narcolepsy. Human narcolepsy is primarily a sporadically
DE   occurring disorder but familial clustering has been observed.
SY   Narcolepsy-cataplexy syndrome.
SY   Narcoleptic syndrome 1.
DR   MIM; 161400; phenotype.
DR   MedGen; C0007384.
DR   MedGen; C1834372.
DR   MeSH; D009290.
//
ID   Narcolepsy 7.
AC   DI-03240
AR   NRCLP7.
DE   Neurological disabling sleep disorder, characterized by excessive
DE   daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid-
DE   eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and
DE   sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered
DE   by emotions, which is the most valuable clinical feature used to
DE   diagnose narcolepsy. Human narcolepsy is primarily a sporadically
DE   occurring disorder but familial clustering has been observed.
SY   Narcolepsy-cataplexy syndrome 7.
SY   Narcoleptic syndrome 7.
DR   MIM; 614250; phenotype.
DR   MedGen; C3280266.
DR   MeSH; D009290.
//
ID   Nasopharyngeal carcinoma, 3.
AC   DI-04806
AR   NPCA3.
DE   A form of nasopharyngeal carcinoma, a malignant neoplasm that
DE   originates in the nasopharyngeal epithelium and includes 4 subtypes:
DE   keratinizing squamous cell, non-keratinizing, basaloid squamous cell,
DE   and papillary adenocarcinoma.
DR   MIM; 617075; phenotype.
DR   MedGen; CN237822.
DR   MeSH; D009303.
//
ID   Naxos disease.
AC   DI-00798
AR   NXD.
DE   An autosomal recessive disorder characterized by the association of
DE   diffuse non-epidermolytic palmoplantar keratoderma with woolly hair
DE   and cardiac abnormalities such as dilated cardiomyopathy and
DE   arrhythmogenic right ventricular dysplasia.
SY   Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities.
SY   Keratosis palmoplantaris with arrythmogenic cardiomyopathy.
SY   Mal de Naxos.
SY   Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair.
SY   Woolly hair, palmoplantar keratoderma, and cardiac abnormalities.
DR   MIM; 601214; phenotype.
DR   MedGen; C1832600.
DR   MeSH; D006201.
DR   MeSH; D007645.
DR   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Nemaline myopathy 10.
AC   DI-04292
AR   NEM10.
DE   An autosomal recessive severe form of nemaline myopathy. Nemaline
DE   myopathies are muscular disorders characterized by muscle weakness of
DE   varying severity and onset, and abnormal thread-like or rod-shaped
DE   structures in muscle fibers on histologic examination. NEM10 is
DE   characterized by early-onset generalized muscle weakness and hypotonia
DE   with respiratory insufficiency and feeding difficulties. Additional
DE   features include arthrogryposis or congenital contractures,
DE   ophthalmoplegia, a history of prematurity, reduced fetal movements,
DE   and polyhydramnios. Most patients die of respiratory failure in early
DE   infancy.
DR   MIM; 616165; phenotype.
DR   MedGen; CN224985.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 2.
AC   DI-02033
AR   NEM2.
DE   A form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination.
SY   NEB-related nemaline myopathy.
DR   MIM; 256030; phenotype.
DR   MedGen; C1850569.
DR   MedGen; CN187052.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 5A, autosomal recessive, severe infantile.
AC   DI-02036
AR   NEM5A.
DE   A form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination. NEM5A is a severe and progressive
DE   form characterized by symptom onset soon after birth or in early
DE   infancy. Affected infants display tremors with hypotonia and mild
DE   contractures of the shoulders and hips. Proximal contractures
DE   progressively weaken and a pectus carinatum deformity develops before
DE   children die of respiratory insufficiency, usually in the second year.
SY   Amish nemaline myopathy.
SY   ANM.
SY   Nemaline myopathy Amish type.
SY   TNNT1-related nemaline myopathy.
DR   MIM; 605355; phenotype.
DR   MedGen; C1854380.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 5B, autosomal recessive, childhood-onset.
AC   DI-06692
AR   NEM5B.
DE   A form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination. NEM5B is characterized by proximal
DE   muscle weakness of the lower and upper limbs, gait abnormalities, and
DE   delayed motor development in some affected individuals. Most patients
DE   remain ambulatory even into late adulthood and develop restrictive
DE   respiratory insufficiency with decreased forced vital capacity.
DR   MIM; 620386; phenotype.
DR   MedGen; CN371905.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 5C, autosomal dominant.
AC   DI-06693
AR   NEM5C.
DE   A form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination. NEM5C is a relatively mild skeletal
DE   muscle disorder appearing in the first or second decades. Main
DE   clinical features include difficulty walking on the heels, waddling
DE   gait, proximal muscle weakness affecting the upper and lower limbs,
DE   and Gowers sign. Patients remain ambulatory into late adulthood.
DR   MIM; 620389; phenotype.
DR   MedGen; CN371906.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 6.
AC   DI-02960
AR   NEM6.
DE   A form of nemaline myopathy characterized by childhood onset of slowly
DE   progressive proximal muscle weakness, exercise intolerance, and slow
DE   movements with stiff muscles. Patients are unable to run or correct
DE   themselves from falling over.
DR   MIM; 609273; phenotype.
DR   MedGen; C1836472.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 7.
AC   DI-02037
AR   NEM7.
DE   A form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination. Nemaline myopathy type 7 presents at
DE   birth with hypotonia and generalized weakness. Major motor milestones
DE   are delayed, but independent ambulation is achieved.
SY   CFL2-related nemaline myopathy.
SY   Nemaline myopathy 7, autosomal recessive.
DR   MIM; 610687; phenotype.
DR   MedGen; C1853154.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 8.
AC   DI-03802
AR   NEM8.
DE   A severe form of nemaline myopathy. Nemaline myopathies are muscular
DE   disorders characterized by muscle weakness of varying severity and
DE   onset, and abnormal thread-like or rod-shaped structures in muscle
DE   fibers on histologic examination. NEM8 is characterized by fetal
DE   akinesia or hypokinesia, followed by contractures, fractures,
DE   respiratory failure, and swallowing difficulties apparent at birth.
DE   Most patients die in infancy. Skeletal muscle biopsy shows numerous
DE   small nemaline bodies, often with no normal myofibrils.
SY   Nemaline myopathy 8, autosomal recessive.
DR   MIM; 615348; phenotype.
DR   MedGen; C3809209.
DR   MedGen; CN178405.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nemaline myopathy 9.
AC   DI-04073
AR   NEM9.
DE   An autosomal recessive form of nemaline myopathy. Nemaline myopathies
DE   are muscular disorders characterized by muscle weakness of varying
DE   severity and onset, and abnormal thread-like or rod-shaped structures
DE   in muscle fibers on histologic examination. NEM9 phenotype is highly
DE   variable, ranging from death in infancy due to lack of antigravity
DE   movements, to slowly progressive distal muscle weakness with preserved
DE   ambulation later in childhood.
DR   MIM; 615731; phenotype.
DR   MedGen; C3810384.
DR   MedGen; CN185876.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Nephrogenic syndrome of inappropriate antidiuresis.
AC   DI-02040
AR   NSIAD.
DE   Characterized by an inability to excrete a free water load, with
DE   inappropriately concentrated urine and resultant hyponatremia,
DE   hypoosmolarity, and natriuresis.
DR   MIM; 300539; phenotype.
DR   MedGen; C1845202.
//
ID   Nephrolithiasis, calcium oxalate, 1.
AC   DI-04782
AR   CAON1.
DE   A form of nephrolithiasis, a condition in which urinary
DE   supersaturation leads to stone formation in the urinary system.
DE   Patients manifest acute renal colic with severe pain originating in
DE   the flank. Patients with small, non-obstructing stones or those with
DE   staghorn calculi may be asymptomatic. The majority of renal calculi
DE   contain calcium. CAON1 is characterized by calcium oxalate kidney
DE   stones.
SY   Calcium oxalate urolithiasis.
SY   Kidney stones.
SY   Urolithiasis, calcium oxalate.
DR   MIM; 167030; phenotype.
DR   MedGen; C1833683.
DR   MeSH; D053040.
//
ID   Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis.
AC   DI-06686
AR   CAON2.
DE   A form of nephrolithiasis, a condition in which urinary
DE   supersaturation leads to calcium oxalate stone formation in the
DE   urinary system. CAON2 is an autosomal dominant form often resultings
DE   in nephrocalcinosis.
DR   MIM; 620374; phenotype.
DR   MedGen; CN327135.
DR   MeSH; D053040.
//
ID   Nephrolithiasis, X-linked recessive, with renal failure.
AC   DI-00801
AR   XRN.
DE   An X-linked recessive renal disease belonging to the 'Dent disease
DE   complex', a group of disorders characterized by proximal renal tubular
DE   defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The
DE   spectrum of phenotypic features is remarkably similar in the various
DE   disorders, except for differences in the severity of bone deformities
DE   and renal impairment. XRN patients present with hypercalciuria,
DE   nephrocalcinosis, renal stones and renal insufficiency. Patients lack
DE   urinary acidification defects, rickets, and osteomalacia.
SY   Nephrolithiasis 1.
SY   NPHL1.
DR   MIM; 310468; phenotype.
DR   MedGen; C0403720.
DR   MeSH; D053040.
//
ID   Nephrolithiasis/osteoporosis, hypophosphatemic, 1.
AC   DI-01797
AR   NPHLOP1.
DE   A disease characterized by decreased renal phosphate absorption, renal
DE   phosphate wasting, hypophosphatemia, hyperphosphaturia,
DE   hypercalciuria, nephrolithiasis and osteoporosis.
DR   MIM; 612286; phenotype.
DR   MedGen; C2676786.
DR   MeSH; D007015.
DR   MeSH; D010024.
DR   MeSH; D053040.
//
ID   Nephrolithiasis/osteoporosis, hypophosphatemic, 2.
AC   DI-01798
AR   NPHLOP2.
DE   A disease characterized by decreased renal phosphate absorption, renal
DE   phosphate wasting, hypophosphatemia, hyperphosphaturia,
DE   hypercalciuria, nephrolithiasis and osteoporosis.
DR   MIM; 612287; phenotype.
DR   MedGen; C2676782.
DR   MeSH; D007015.
DR   MeSH; D010024.
DR   MeSH; D053040.
//
ID   Nephronophthisis 1.
AC   DI-00803
AR   NPHP1.
DE   An autosomal recessive inherited disease characterized by anemia,
DE   polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical
DE   destruction of the kidneys involving both tubules and glomeruli
DE   occurs. The underlying pathology is a chronic tubulo-interstitial
DE   nephropathy with characteristic tubular basement membrane thickening
DE   and medullary cyst formation. Associations with extrarenal symptoms,
DE   especially ocular lesions, are frequent. The age at death ranges from
DE   about 4 to 15 years.
SY   Familial juvenile nephronophthisis 1.
DR   MIM; 256100; phenotype.
DR   MedGen; C1855681.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 11.
AC   DI-02898
AR   NPHP11.
DE   A disorder characterized by the association of nephronophthisis with
DE   hepatic fibrosis. Nephronophthisis is a progressive tubulo-
DE   interstitial kidney disorder histologically characterized by
DE   modifications of the tubules with thickening of the basement membrane,
DE   interstitial fibrosis and, in the advanced stages, medullary cysts.
DE   Typical clinical features are chronic renal failure, anemia, polyuria,
DE   polydipsia, isosthenuria, and growth retardation. Associations with
DE   extrarenal symptoms, especially ocular lesions, are frequent.
DR   MIM; 613550; phenotype.
DR   MedGen; C3150796.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 12.
AC   DI-03051
AR   NPHP12.
DE   An autosomal recessive disorder resulting in end-stage renal disease.
DE   It is a progressive tubulo-interstitial kidney disorder histologically
DE   characterized by modifications of the tubules with thickening of the
DE   basement membrane, interstitial fibrosis and, in the advanced stages,
DE   medullary cysts. Some patients manifest extra-renal features including
DE   retinal, skeletal and central nervous system defects.
DR   MIM; 613820; phenotype.
DR   MedGen; C3151186.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 13.
AC   DI-03326
AR   NPHP13.
DE   An autosomal recessive disorder resulting in end-stage renal disease.
DE   It is a progressive tubulo-interstitial kidney disorder histologically
DE   characterized by modifications of the tubules with thickening of the
DE   basement membrane, interstitial fibrosis and, in the advanced stages,
DE   medullary cysts.
DR   MIM; 614377; phenotype.
DR   MedGen; C3280612.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 14.
AC   DI-03547
AR   NPHP14.
DE   An autosomal recessive disorder manifesting as infantile-onset kidney
DE   disease, cerebellar vermis hypoplasia, and situs inversus.
DE   Nephronophthisis is a progressive tubulo-interstitial kidney disorder
DE   histologically characterized by modifications of the tubules with
DE   thickening of the basement membrane, interstitial fibrosis and, in the
DE   advanced stages, medullary cysts.
DR   MIM; 614844; phenotype.
DR   MedGen; C3539071.
DR   MedGen; CN158702.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 15.
AC   DI-03538
AR   NPHP15.
DE   An autosomal recessive disorder characterized by the association of
DE   nephronophthisis with Leber congenital amaurosis and retinal
DE   degeneration, often resulting in blindness during childhood.
DE   Additional features include seizures, cerebellar vermis hypoplasia,
DE   facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis
DE   is a chronic tubulo-interstitial nephritis that progresses to end-
DE   stage renal failure.
DR   MIM; 614845; phenotype.
DR   MedGen; C3541853.
DR   MedGen; CN158703.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 16.
AC   DI-03843
AR   NPHP16.
DE   A form of nephronophthisis, a chronic tubulo-interstitial nephritis
DE   that progresses to end-stage renal failure. Some patients have cystic
DE   kidneys of normal size and no extrarenal manifestations, whereas
DE   others have enlarged renal size and severe extrarenal defects,
DE   including hypertrophic obstructive cardiomyopathy, aortic stenosis,
DE   pulmonary stenosis, patent ductus arteriosus, situs inversus, and
DE   periportal liver fibrosis.
DR   MIM; 615382; phenotype.
DR   MedGen; C3809320.
DR   MedGen; CN179770.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 18.
AC   DI-04134
AR   NPHP18.
DE   An autosomal recessive disorder characterized by chronic
DE   tubulointerstitial nephritis resulting in end-stage renal disease in
DE   early childhood. Extrarenal manifestations, including intellectual
DE   disability or liver changes, may occur in some patients.
DR   MIM; 615862; phenotype.
DR   MedGen; CN189146.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 19.
AC   DI-04336
AR   NPHP19.
DE   A form of nephronophthisis, an autosomal recessive disorder
DE   characterized by chronic tubulointerstitial nephritis resulting in
DE   end-stage renal disease. NPHP19 patients also manifest
DE   hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts,
DE   focal bile ductal proliferation, ductal plate malformation, and
DE   cholestasis.
DR   MIM; 616217; phenotype.
DR   MedGen; CN225923.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 2.
AC   DI-00804
AR   NPHP2.
DE   An autosomal recessive disorder resulting in end-stage renal disease.
DE   It is characterized by early onset and rapid progression. Phenotypic
DE   manifestations include enlarged kidneys, chronic tubulo-interstitial
DE   nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also
DE   display situs inversus. Pathologically, it differs from later-onset
DE   nephronophthisis by the absence of medullary cysts and thickened
DE   tubular basement membranes, and by the presence of cortical
DE   microcysts.
SY   Infantile nephronophthisis.
DR   MIM; 602088; phenotype.
DR   MedGen; C1865872.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 20.
AC   DI-04920
AR   NPHP20.
DE   A form of nephronophthisis, an autosomal recessive chronic tubulo-
DE   interstitial nephritis that progresses to end-stage renal failure.
DE   Some patients have cystic kidneys of normal size and no extrarenal
DE   manifestations, whereas others have enlarged renal size and severe
DE   extrarenal defects, including hypertrophic obstructive cardiomyopathy,
DE   aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs
DE   inversus, and periportal liver fibrosis. NPHP20 patients do not show
DE   extrarenal manifestations or evidence of a ciliopathy, such as situs
DE   inversus or polydactyly.
DR   MIM; 617271; phenotype.
DR   MedGen; CN230115.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
//
ID   Nephronophthisis 3.
AC   DI-00805
AR   NPHP3.
DE   An autosomal recessive disorder resulting in end-stage renal disease.
DE   It is characterized by polyuria, polydipsia, anemia. Onset of terminal
DE   renal failure occurr significantly later (median age, 19 years) than
DE   in juvenile nephronophthisis. Renal pathology is characterized by
DE   alterations of tubular basement membranes, tubular atrophy and
DE   dilation, sclerosing tubulointerstitial nephropathy, and renal cyst
DE   development predominantly at the corticomedullary junction.
SY   Adolescent nephronophthisis.
DR   MIM; 604387; phenotype.
DR   MedGen; C1858392.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 4.
AC   DI-00806
AR   NPHP4.
DE   An autosomal recessive inherited disease resulting in end-stage renal
DE   disease at age ranging between 6 and 35 years. It is a progressive
DE   tubulo-interstitial kidney disorder characterized by polydipsia,
DE   polyuria, anemia and growth retardation. The most prominent
DE   histological features are modifications of the tubules with thickening
DE   of the basement membrane, interstitial fibrosis and, in the advanced
DE   stages, medullary cysts.
SY   Juvenile nephronophthisis 4.
DR   MIM; 606966; phenotype.
DR   MedGen; C1847013.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 7.
AC   DI-00807
AR   NPHP7.
DE   An autosomal recessive disorder resulting in end-stage renal disease
DE   during childhood or adolescence. It is a progressive tubulo-
DE   interstitial kidney disorder histologically characterized by
DE   modifications of the tubules with thickening of the basement membrane,
DE   interstitial fibrosis and, in the advanced stages, medullary cysts.
DR   MIM; 611498; phenotype.
DR   MedGen; C1969092.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis 9.
AC   DI-03050
AR   NPHP9.
DE   An autosomal recessive disorder resulting in end-stage renal disease.
DE   It is a progressive tubulo-interstitial kidney disorder histologically
DE   characterized by modifications of the tubules with thickening of the
DE   basement membrane, interstitial fibrosis and, in the advanced stages,
DE   medullary cysts.
DR   MIM; 613824; phenotype.
DR   MedGen; C3151188.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Nephronophthisis-like nephropathy 1.
AC   DI-02901
AR   NPHPL1.
DE   An autosomal recessive disorder with features of nephronophthisis, a
DE   cystic kidney disease leading to end-stage renal failure.
DE   Nephronophthisis is histologically characterized by modifications of
DE   the tubules with thickening of the basement membrane, interstitial
DE   fibrosis and, in the advanced stages, medullary cysts. Typical
DE   clinical manifestation are chronic renal failure, anemia, polyuria,
DE   polydipsia, isosthenuria, and growth retardation. Associations with
DE   extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal
DE   symptoms include hypertension, essential tremor, sensorineural hearing
DE   loss and gout. Severely affected individuals can manifest a
DE   mitochondrial disorder with isolated complex I deficiency activity in
DE   muscle, seizures, intellectual disability and hypertrophic dilated
DE   cardiomyopathy.
DR   MIM; 613159; phenotype.
DR   MedGen; C3150419.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
//
ID   Nephronophthisis-like nephropathy 2.
AC   DI-06186
AR   NPHPL2.
DE   A disorder with features of nephronophthisis, a cystic kidney disease
DE   leading to end-stage renal failure. Nephronophthisis is histologically
DE   characterized by modifications of the tubules with thickening of the
DE   basement membrane, interstitial fibrosis and, in the advanced stages,
DE   medullary cysts. Typical clinical manifestation are chronic renal
DE   failure, anemia, polyuria, polydipsia, isosthenuria, and growth
DE   retardation. Associations with extrarenal symptoms are frequent.
DE   NPHPL2 is an autosomal recessive form characterized by onset of
DE   progressive renal insufficiency in the first decades of life.
DR   MIM; 619468; phenotype.
DR   MedGen; CN300326.
DR   MeSH; D052177.
KW   KW-0983:Nephronophthisis.
//
ID   Nephrotic syndrome 1.
AC   DI-01414
AR   NPHS1.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure.
SY   CNF.
SY   Congenital nephrotic syndrome.
SY   Congenital nephrotic syndrome of the Finnish type.
SY   Finnish congenital nephrosis.
DR   MIM; 256300; phenotype.
DR   MedGen; C0403399.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 10.
AC   DI-04133
AR   NPHS10.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by focal segmental glomerulosclerosis, progressive renal failure,
DE   severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10
DE   is a steroid-sensitive form characterized by onset in childhood and
DE   remission without end-stage kidney disease.
DR   MIM; 615861; phenotype.
DR   MedGen; CN189148.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 11.
AC   DI-04623
AR   NPHS11.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure. NPHS11 is an autosomal recessive, steroid-resistant and
DE   progressive form with onset in the first decade of life.
DR   MIM; 616730; phenotype.
DR   MedGen; CN234872.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 12.
AC   DI-04699
AR   NPHS12.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure. NPHS12 inheritance is autosomal recessive.
DR   MIM; 616892; phenotype.
DR   MedGen; CN235925.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 13.
AC   DI-04700
AR   NPHS13.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure.
DR   MIM; 616893; phenotype.
DR   MedGen; CN235926.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 15.
AC   DI-05067
AR   NPHS15.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. NPHS15 is an autosomal recessive
DE   form with onset in the first months of life. Disease severity is
DE   variable. Some patients show rapid progression to end-stage renal
DE   failure.
SY   Nephrotic syndrome, type 15.
DR   MIM; 617609; phenotype.
DR   MedGen; CN388854.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 16.
AC   DI-05129
AR   NPHS16.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS16 inheritance is autosomal recessive.
SY   Nephrotic syndrome, type 16.
DR   MIM; 617783; phenotype.
DR   MedGen; CN651336.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 17.
AC   DI-05378
AR   NPHS17.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS17 is an autosomal recessive, steroid-resistant
DE   progressive form with onset in the first decade of life.
DR   MIM; 618176; phenotype.
DR   MedGen; CN257778.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 18.
AC   DI-05379
AR   NPHS18.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS18 is an autosomal recessive, steroid-resistant
DE   progressive form with onset in the first decade of life.
DR   MIM; 618177; phenotype.
DR   MedGen; CN257779.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 19.
AC   DI-05380
AR   NPHS19.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS19 is an autosomal recessive, steroid-resistant form with
DE   onset in the first or second decade of life, resulting in chronic
DE   kidney disease.
DR   MIM; 618178; phenotype.
DR   MedGen; CN257780.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 2.
AC   DI-01260
AR   NPHS2.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. The disorder is resistant to
DE   steroid treatment and progresses to end-stage renal failure in the
DE   first or second decades. Some patients show later onset of the
DE   disorder.
SY   Autosomal recessive steroid-resistant nephrotic syndrome.
SY   SRN.
SY   SRN1.
DR   MIM; 600995; phenotype.
DR   MedGen; C1868672.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 20.
AC   DI-05603
AR   NPHS20.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS20 is an X-linked, steroid-resistant form with onset at
DE   birth or in the first years of life in affected males. Death in
DE   childhood may occur in absence of renal transplantation. Carrier
DE   females may be unaffected or have a mild disease with proteinuria.
DR   MIM; 301028; phenotype.
DR   MedGen; CN260592.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 21.
AC   DI-05664
AR   NPHS21.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS21 is an autosomal recessive, rapidly progressive,
DE   steroid-resistant form characterized by onset of kidney dysfunction in
DE   the first year of life. Some patients may have variable extra-renal
DE   manifestations.
DR   MIM; 618594; phenotype.
DR   MedGen; CN262329.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 22.
AC   DI-06009
AR   NPHS22.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS22 is an autosomal recessive, steroid-resistant form
DE   characterized by onset of progressive kidney dysfunction in infancy.
DR   MIM; 619155; phenotype.
DR   MedGen; CN295220.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 23.
AC   DI-06033
AR   NPHS23.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS23 is an autosomal recessive form characterized by onset
DE   of proteinuria in the first or second decade of life, and variable
DE   outcome. Some patients have normal renal function after many years,
DE   whereas others may progress to chronic kidney disease.
DR   MIM; 619201; phenotype.
DR   MedGen; CN295786.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 24.
AC   DI-06075
AR   NPHS24.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS24 is an autosomal recessive, slowly progressive form.
DE   Most patients eventually develop end-stage renal disease.
DR   MIM; 619263; phenotype.
DR   MedGen; CN296327.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 26.
AC   DI-06510
AR   NPHS26.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form that progresses to end-stage renal
DE   failure. NPHS26 is an autosomal recessive form characterized by onset
DE   of proteinuria in the first months or years of life. Some patients
DE   respond to steroids, whereas others show steroid resistance and
DE   progression to end-stage renal disease.
DR   MIM; 620049; phenotype.
DR   MedGen; CN322054.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 3.
AC   DI-02041
AR   NPHS3.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure. Most patients with NPHS3 show diffuse mesangial sclerosis on
DE   renal biopsy, which is a pathologic entity characterized by mesangial
DE   matrix expansion with no mesangial hypercellularity, hypertrophy of
DE   the podocytes, vacuolized podocytes, thickened basement membranes, and
DE   diminished patency of the capillary lumen.
SY   Early-onset nephrotic syndrome type 3.
DR   MIM; 610725; phenotype.
DR   MedGen; C1853124.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 4.
AC   DI-01838
AR   NPHS4.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure. Most patients with NPHS4 show diffuse mesangial sclerosis on
DE   renal biopsy, which is a pathologic entity characterized by mesangial
DE   matrix expansion with no mesangial hypercellularity, hypertrophy of
DE   the podocytes, vacuolized podocytes, thickened basement membranes, and
DE   diminished patency of the capillary lumen.
SY   Isolated diffuse mesangial sclerosis.
DR   MIM; 256370; phenotype.
DR   MedGen; C0268747.
DR   MedGen; C3151568.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 5 with or without ocular abnormalities.
AC   DI-03237
AR   NPHS5.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure. NPHS5 is characterized by very early onset of progressive
DE   renal failure. A subset of patients may develop mild ocular anomalies,
DE   such as myopia, nystagmus, and strabismus.
DR   MIM; 614199; phenotype.
DR   MedGen; C3280113.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 6.
AC   DI-03238
AR   NPHS6.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-
DE   specific histologic changes such as focal segmental glomerulosclerosis
DE   and diffuse mesangial proliferation. Some affected individuals have an
DE   inherited steroid-resistant form and progress to end-stage renal
DE   failure.
DR   MIM; 614196; phenotype.
DR   MedGen; C3280100.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 7.
AC   DI-03666
AR   NPHS7.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by severe proteinuria, resulting in complications such as
DE   hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal
DE   recessive form characterized by onset of proteinuria usually in the
DE   first decade of life. The disorder is progressive, and some patients
DE   develop end-stage renal disease within several years. Renal biopsy
DE   typically shows membranoproliferative glomerulonephritis.
SY   Nephrotic syndrome type 7 with membranoproliferative glomerulonephritis.
DR   MIM; 615008; phenotype.
DR   MedGen; C3554330.
DR   MedGen; CN164256.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 8.
AC   DI-03751
AR   NPHS8.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by progressive renal failure, severe proteinuria, hypoalbuminemia,
DE   hyperlipidemia and edema. Kidney biopsies show diffuse mesangial
DE   sclerosis, with small glomeruli, hypercellularity, increased
DE   extracellular matrix, and contracted/collapsed glomerular tufts
DE   surrounded by immature or abnormal podocytes.
DR   MIM; 615244; phenotype.
DR   MedGen; C3808953.
DR   MedGen; CN169878.
DR   MeSH; D009404.
//
ID   Nephrotic syndrome 9.
AC   DI-03980
AR   NPHS9.
DE   A form of nephrotic syndrome, a renal disease clinically characterized
DE   by progressive renal failure, severe proteinuria, hypoalbuminemia,
DE   hyperlipidemia and edema. Kidney biopsies show focal segmental
DE   glomerulosclerosis.
DR   MIM; 615573; phenotype.
DR   MedGen; C3809965.
DR   MedGen; CN185292.
DR   MeSH; D009404.
//
ID   NESCAV syndrome.
AC   DI-03252
AR   NESCAVS.
DE   An autosomal dominant neurodegenerative disorder with variable
DE   manifestations. Main features are delayed psychomotor development,
DE   progressive spasticity, intellectual disability, speech delay, and
DE   learning disabilities. Some patients never achieve ambulation.
DE   Additional variable features are cortical visual impairment, often
DE   associated with optic atrophy, axonal peripheral neuropathy, seizures,
DE   dysautonomia, ataxia, and dystonia. Brain imaging often shows
DE   progressive cerebellar atrophy and thin corpus callosum. Disease onset
DE   is in infancy or early childhood.
SY   MRD9.
SY   Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment.
DR   MIM; 614255; phenotype.
DR   MedGen; C3280283.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Nestor-Guillermo progeria syndrome.
AC   DI-03175
AR   NGPS.
DE   An atypical progeroid syndrome characterized by normal development in
DE   the first years of life, later followed by the emergence of
DE   generalized lipoatrophy, severe osteoporosis, and marked osteolysis.
DE   The atrophic facial subcutaneous fat pad and the marked osteolysis of
DE   the maxilla and mandible result in a typical pseudosenile facial
DE   appearance with micrognathia, prominent subcutaneous venous
DE   patterning, a convex nasal ridge, and proptosis. Cognitive development
DE   is completely normal. Patients do not have cardiovascular dysfunction,
DE   atherosclerosis, or metabolic anomalies.
SY   Progeria syndrome childhood-onset with osteolysis.
SY   PSCOO.
DR   MIM; 614008; phenotype.
DR   MedGen; C3151446.
DR   MeSH; D011371.
//
ID   Netherton syndrome.
AC   DI-00809
AR   NETH.
DE   An autosomal recessive congenital ichthyosis associated with hair
DE   shaft abnormalities and anomalies of the immune system. Typical
DE   features are ichthyosis linearis circumflexa, ichthyosiform
DE   erythroderma, trichorrhexis invaginata (bamboo hair), atopic
DE   dermatitis, and hayfever. High postnatal mortality is due to failure
DE   to thrive, infections and hypernatremic dehydration.
SY   Comel-Netherton syndrome.
SY   Erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE.
SY   Netherton disease.
SY   NS.
SY   NTS.
DR   MIM; 256500; phenotype.
DR   MedGen; C0265962.
DR   MeSH; D056770.
KW   KW-0977:Ichthyosis.
KW   KW-1063:Hypotrichosis.
//
ID   Neu-Laxova syndrome 1.
AC   DI-04141
AR   NLS1.
DE   A lethal, autosomal recessive multiple malformation syndrome
DE   characterized by ichthyosis, marked intrauterine growth restriction,
DE   microcephaly, short neck, limb deformities, hypoplastic lungs, edema,
DE   and central nervous system anomalies including lissencephaly,
DE   cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum.
DE   Abnormal facial features include severe proptosis with ectropion,
DE   hypertelorism, micrognathia, flattened nose, and malformed ears.
DR   MIM; 256520; phenotype.
DR   MedGen; C0265218.
DR   MeSH; D001927.
DR   MeSH; D005317.
DR   MeSH; D007057.
DR   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Neu-Laxova syndrome 2.
AC   DI-04253
AR   NLS2.
DE   A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple
DE   malformation syndrome characterized by ichthyosis, marked intrauterine
DE   growth restriction, microcephaly, short neck, limb deformities,
DE   hypoplastic lungs, edema, and central nervous system anomalies. These
DE   include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis
DE   of the corpus callosum. Abnormal facial features include severe
DE   proptosis with ectropion, hypertelorism, micrognathia, flattened nose,
DE   and malformed ears.
DR   MIM; 616038; phenotype.
DR   MedGen; CN219802.
DR   MeSH; D001927.
DR   MeSH; D005317.
DR   MeSH; D007057.
DR   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Neural tube defects.
AC   DI-02042
AR   NTD.
DE   Congenital malformations of the central nervous system and adjacent
DE   structures related to defective neural tube closure during the first
DE   trimester of pregnancy. Failure of neural tube closure can occur at
DE   any level of the embryonic axis. Common NTD forms include anencephaly,
DE   myelomeningocele and spina bifida, which result from the failure of
DE   fusion in the cranial and spinal region of the neural tube. NTDs have
DE   a multifactorial etiology encompassing both genetic and environmental
DE   components.
SY   Spina bifida.
DR   MIM; 182940; phenotype.
DR   MedGen; C0027794.
DR   MedGen; C0080178.
DR   MeSH; D009436.
//
ID   Neural tube defects, folate-sensitive.
AC   DI-01623
AR   NTDFS.
DE   The most common NTDs are open spina bifida (myelomeningocele) and
DE   anencephaly.
DR   MIM; 601634; phenotype.
DR   MedGen; C1866558.
DR   MedGen; C1866559.
//
ID   Neuroblastoma 1.
AC   DI-02633
AR   NBLST1.
DE   A common neoplasm of early childhood arising from embryonic cells that
DE   form the primitive neural crest and give rise to the adrenal medulla
DE   and the sympathetic nervous system.
DR   MIM; 256700; phenotype.
DR   MedGen; C0027819.
DR   MedGen; C2749484.
DR   MedGen; C2749485.
DR   MeSH; D009447.
//
ID   Neuroblastoma 2.
AC   DI-02631
AR   NBLST2.
DE   A common neoplasm of early childhood arising from embryonic cells that
DE   form the primitive neural crest and give rise to the adrenal medulla
DE   and the sympathetic nervous system.
DR   MIM; 613013; phenotype.
DR   MedGen; C2751682.
DR   MedGen; C2751683.
DR   MeSH; D009447.
//
ID   Neuroblastoma 3.
AC   DI-02632
AR   NBLST3.
DE   A common neoplasm of early childhood arising from embryonic cells that
DE   form the primitive neural crest and give rise to the adrenal medulla
DE   and the sympathetic nervous system.
DR   MIM; 613014; phenotype.
DR   MedGen; C2751681.
DR   MeSH; D009447.
//
ID   Neurocardiofaciodigital syndrome.
AC   DI-06420
AR   NCFD.
DE   An autosomal recessive syndrome characterized by severe developmental
DE   delay, variable brain anomalies, congenital heart defects, dysmorphic
DE   facial features, and a distinctive type of synpolydactyly with a
DE   supernumerary hypoplastic digit between the fourth and fifth digits of
DE   the hands and/or feet. Other features include eye abnormalities,
DE   hearing impairment, and electroencephalogram anomalies.
DR   MIM; 619869; phenotype.
DR   MedGen; CN312025.
DR   MeSH; D000015.
DR   MeSH; D017880.
//
ID   Neurodegeneration and seizures due to copper transport defect.
AC   DI-06639
AR   NSCT.
DE   An autosomal recessive disorder of copper metabolism characterized by
DE   global developmental delay, seizures, cortical and cerebellar atrophy,
DE   and axial hypotonia. Death in infancy may occur.
DR   MIM; 620306; phenotype.
DR   MedGen; CN323733.
DR   MeSH; D008664.
DR   MeSH; D020739.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Neurodegeneration due to cerebral folate transport deficiency.
AC   DI-02630
AR   NCFTD.
DE   An autosomal recessive neurodegenerative disorder resulting from
DE   brain-specific folate deficiency early in life. Onset is apparent in
DE   late infancy with severe developmental regression, movement
DE   disturbances, epilepsy and leukodystrophy.
DR   MIM; 613068; phenotype.
DR   MedGen; C2751584.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with ataxia and late-onset optic atrophy.
AC   DI-06073
AR   NDAXOA.
DE   An autosomal dominant disorder characterized by slowly progressive
DE   cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia.
DE   Additional features can include cardiomyopathy, psychiatric
DE   disturbances, and peripheral sensory impairment. Disease onset is
DE   usually in mid-adulthood.
DR   MIM; 619259; phenotype.
DR   MedGen; CN296311.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.
AC   DI-04862
AR   NADGP.
DE   A neurodegenerative disorder characterized by gait abnormalities,
DE   ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive
DE   decline. Disease onset is in childhood or adolescence. NADGP
DE   transmission pattern is consistent with autosomal recessive
DE   inheritance.
DR   MIM; 617145; phenotype.
DR   MedGen; CN238691.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 1.
AC   DI-02126
AR   NBIA1.
DE   Autosomal recessive neurodegenerative disorder associated with iron
DE   accumulation in the brain, primarily in the basal ganglia. Clinical
DE   manifestations include progressive muscle spasticity, hyperreflexia,
DE   muscle rigidity, dystonia, dysarthria, and intellectual deterioration
DE   which progresses to severe dementia over several years. It is
DE   clinically classified into classic, atypical, and intermediate
DE   phenotypes. Classic forms present with onset in first decade, rapid
DE   progression, loss of independent ambulation within 15 years. Atypical
DE   forms have onset in second decade, slow progression, maintenance of
DE   independent ambulation up to 40 years later. Intermediate forms
DE   manifest onset in first decade with slow progression or onset in
DE   second decade with rapid progression. Patients with early onset tend
DE   to also develop pigmentary retinopathy, whereas those with later onset
DE   tend to also have speech disorders and psychiatric features. All
DE   patients have the 'eye of the tiger' sign on brain MRI.
SY   Hallervorden-Spatz syndrome.
SY   HSS.
SY   Pantothenate kinase-associated neurodegeneration.
SY   PKAN.
SY   PKAN neuroaxonal dystrophy juvenile-onset.
DR   MIM; 234200; phenotype.
DR   MedGen; C0018523.
DR   MeSH; D006211.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 2A.
AC   DI-01819
AR   NBIA2A.
DE   A neurodegenerative disease characterized by pathologic axonal
DE   swelling and spheroid bodies in the central nervous system. Onset is
DE   within the first 2 years of life with death by age 10 years.
SY   INAD.
SY   INAD1.
SY   Infantile neuroaxonal dystrophy.
SY   Infantile neuroaxonal dystrophy 1.
SY   Neurodegeneration PLA2G6-associated.
SY   PLAN.
SY   Seitelberger disease.
DR   MIM; 256600; phenotype.
DR   MedGen; C0270724.
DR   MedGen; C0751718.
DR   MeSH; D019150.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 2B.
AC   DI-02043
AR   NBIA2B.
DE   A neurodegenerative disorder associated with iron accumulation in the
DE   brain, primarily in the basal ganglia. It is characterized by
DE   progressive extrapyramidal dysfunction leading to rigidity, dystonia,
DE   dysarthria and sensorimotor impairment.
SY   Atypical neuroaxonal dystrophy.
SY   Karak syndrome.
SY   Neurodegeneration with brain iron accumulation PLA2G6-related.
DR   MIM; 610217; phenotype.
DR   MedGen; C1857747.
DR   MedGen; C2750220.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 3.
AC   DI-02044
AR   NBIA3.
DE   A neurodegenerative disorder associated with iron accumulation in the
DE   brain, primarily in the basal ganglia. It is characterized by a
DE   variety of neurological signs including parkinsonism, ataxia,
DE   corticospinal signs, mild non-progressive cognitive deficit and
DE   episodic psychosis. It is linked with decreased serum ferritin levels.
SY   Adult-onset basal ganglia disease.
SY   Neuroferritinopathy.
DR   MIM; 606159; phenotype.
DR   MedGen; C1853578.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 4.
AC   DI-03284
AR   NBIA4.
DE   A neurodegenerative disorder associated with iron accumulation in the
DE   brain, primarily in the basal ganglia. NBIA4 results in speech
DE   difficulty, extrapyramidal signs, oromandibular and generalized
DE   dystonia, and parkinsonism. Most patients have progressive involvement
DE   of the corticospinal tract, with spasticity, hyperreflexia, and
DE   extensor plantar responses.
SY   Mitochondrial membrane protein associated neurodegeneration.
SY   MPAN.
DR   MIM; 614298; phenotype.
DR   MedGen; C3280371.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 5.
AC   DI-03757
AR   NBIA5.
DE   A neurodegenerative disorder associated with iron accumulation in the
DE   brain, primarily in the basal ganglia. NBIA5 is characterized by
DE   global developmental delay in early childhood that is essentially
DE   static, with slow motor and cognitive gains until adolescence or early
DE   adulthood. In young adulthood, affected individuals develop
DE   progressive dystonia, parkinsonism, extrapyramidal signs, and dementia
DE   resulting in severe disability.
SY   Beta-propeller protein-associated neurodegeneration.
SY   BPAN.
SY   SENDA.
SY   Static encephalopathy of childhood with neurodegeneration in adulthood.
DR   MIM; 300894; phenotype.
DR   MedGen; C3550973.
DR   MedGen; CN169527.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 6.
AC   DI-04039
AR   NBIA6.
DE   A neurodegenerative disorder associated with iron accumulation in the
DE   brain, primarily in the basal ganglia. It is characterized by
DE   progressive motor and cognitive dysfunction beginning in childhood or
DE   young adulthood. Patients show extrapyramidal motor signs, such as
DE   spasticity, dystonia, and parkinsonism.
DR   MIM; 615643; phenotype.
DR   MedGen; C3810230.
DR   MedGen; CN184649.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 7.
AC   DI-05217
AR   NBIA7.
DE   A neurodegenerative disorder associated with iron accumulation,
DE   primarily in the basal ganglia. Clinical features include speech and
DE   motor delay, truncal hypotonia, progressive cerebellar ataxia, and
DE   loss of ambulation. NBIA7 transmission pattern is consistent with
DE   autosomal recessive inheritance.
DR   MIM; 617916; phenotype.
DR   MedGen; CN895590.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with brain iron accumulation 8.
AC   DI-05218
AR   NBIA8.
DE   A neurodegenerative disorder associated with iron accumulation,
DE   primarily in the basal ganglia. Disease onset is in early childhood.
DE   Clinical features include speech delay, progressive cerebellar ataxia,
DE   unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is
DE   consistent with autosomal recessive inheritance.
DR   MIM; 617917; phenotype.
DR   MedGen; CN895591.
DR   MeSH; D001480.
DR   MeSH; D019150.
DR   MeSH; D019189.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities.
AC   DI-06657
AR   NDDRSB.
DE   An autosomal recessive disorder characterized by congenital
DE   microcephaly, profound global developmental delay, exaggerated startle
DE   response, refractory myoclonic seizures, progressive widespread
DE   neurodegeneration, and premature death.
DR   MIM; 620327; phenotype.
DR   MedGen; CN327017.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
AC   DI-05374
AR   CONDSIAS.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   pediatric onset of progressive brain atrophy, developmental
DE   regression, and seizures in association with periods of stress, such
DE   as infections.
DR   MIM; 618170; phenotype.
DR   MedGen; CN257777.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline.
AC   DI-05829
AR   CONATOC.
DE   An autosomal recessive neurodegenerative disease characterized by
DE   progressive ataxia, tremor, cognitive decline, dysphagia, optic
DE   atrophy, dysarthria, as well as urinary and bowel incontinence. Brain
DE   MRI demonstrates cerebellar atrophy and leukoencephalopathy.
DR   MIM; 618868; phenotype.
DR   MedGen; CN280881.
DR   MeSH; D019636.
DR   MeSH; D056784.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration, childhood-onset, with brain atrophy.
AC   DI-05101
AR   CONDBA.
DE   An autosomal dominant neurodegenerative disease with onset in
DE   childhood, characterized by progressive cortical atrophy,
DE   developmental delay, developmental regression, loss of motor skills
DE   and ambulation, absence of language, and intellectual disability.
DR   MIM; 617672; phenotype.
DR   MedGen; CN469330.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Neurodegeneration, childhood-onset, with cerebellar atrophy.
AC   DI-05457
AR   CONDCA.
DE   An autosomal recessive disorder characterized by early onset of
DE   progressive neurodegeneration affecting the central and peripheral
DE   nervous systems. Clinical features include global developmental delay,
DE   impaired intellectual development, poor or absent speech, and motor
DE   abnormalities. Brain imaging shows cerebellar atrophy. Death in
DE   childhood may occur.
DR   MIM; 618276; phenotype.
DR   MedGen; CN258098.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities.
AC   DI-06027
AR   CONRIBA.
DE   An autosomal dominant, progressive, neurodegenerative disorder
DE   characterized by severe global developmental delay, impaired
DE   intellectual development, poor or absent speech, hypotonia, impaired
DE   motor development, respiratory insufficiency, and feeding
DE   difficulties. Most patients have visual defects, including cortical
DE   visual blindness, nystagmus, and esotropia. Brain imaging shows
DE   abnormalities affecting the brainstem, cerebellum, and corticospinal
DE   tracts. Disease onset is in infancy or early childhood.
DR   MIM; 619173; phenotype.
DR   MedGen; CN295280.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction.
AC   DI-06533
AR   CONDMIM.
DE   An autosomal recessive disorder characterized primarily by global
DE   developmental delay and variably impaired intellectual development
DE   with speech delay apparent from infancy. Affected individuals have
DE   hypotonia, poor feeding, poor overall growth, and respiratory distress
DE   early in life. Other features include visual impairment due to optic
DE   atrophy, sensorineural hearing loss, and neuromuscular abnormalities.
DE   Features suggestive of a mitochondrial disorder include cataracts,
DE   cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation
DE   deficiency, and increased lactate. Some patients develop seizures,
DE   some have dysmorphic facial features, and some have non-specific
DE   abnormalities on brain imaging. Death in childhood may occur.
DR   MIM; 620089; phenotype.
DR   MedGen; CN322360.
DR   MeSH; D008607.
DR   MeSH; D019636.
DR   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodegeneration, childhood-onset, with progressive microcephaly.
AC   DI-06403
AR   CONPM.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent from infancy. Most severely affected individuals have
DE   severe and progressive microcephaly, early-onset seizures, lack of
DE   visual tracking, and almost no developmental milestones, resulting in
DE   early death. Less severely affected individuals have a small head
DE   circumference and severely impaired intellectual development with poor
DE   speech and motor delay. Additional features may include poor overall
DE   growth, axial hypotonia, limb hypertonia with spasticity, undescended
DE   testes, and cerebral atrophy with neuronal loss.
DR   MIM; 619847; phenotype.
DR   MedGen; CN312015.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
AC   DI-05576
AR   NDCAMA.
DE   An autosomal recessive disorder characterized by severe neurological
DE   and extra-neurological manifestations. Clinical features include
DE   early-onset global developmental delay, absent speech, dystonia,
DE   spasticity, choreoathetoid movement disorder, seizures, and microcytic
DE   hypochromic anaemia unresponsive to iron supplementation.
DR   MIM; 618451; phenotype.
DR   MedGen; CN258816.
DR   MeSH; D000747.
DR   MeSH; D009069.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity.
AC   DI-05846
AR   NEDBASS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, brain abnormalities, mainly ventriculomegaly and/or brain
DE   atrophy, intellectual disability, absent speech, peripheral
DE   spasticity, and microcephaly. Additional variable features include
DE   early-onset seizures, optic atrophy, and dysmorphic facial features.
DE   Early death may occur.
DR   MIM; 618890; phenotype.
DR   MedGen; CN280970.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with absent language and variable seizures.
AC   DI-05718
AR   NEDALVS.
DE   A disorder characterized by neurodevelopmental abnormalities,
DE   including moderate to profound intellectual disability, with autistic
DE   features, seizures, severe impairments in speech, and gross motor
DE   delay.
SY   Ito-Raymond syndrome.
DR   MIM; 618707; phenotype.
DR   MedGen; CN263060.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities.
AC   DI-06647
AR   NEDSMB.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent in infancy, severely impaired intellectual development,
DE   absent speech, and aggressive behavior.
DR   MIM; 620270; phenotype.
DR   MedGen; CN323718.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly.
AC   DI-05655
AR   NEDAHM.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   intellectual disability, microcephaly, ataxia, and muscular hypotonia.
DR   MIM; 618569; phenotype.
DR   MedGen; CN262279.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
AC   DI-05163
AR   NDAGSCW.
DE   An autosomal dominant neurodevelopmental disorder apparent in infancy
DE   and characterized by severe intellectual disability with absent
DE   speech, epilepsy, and hypotonia. Additionally, visual problems,
DE   musculoskeletal abnormalities, and microcephaly can be present. Brain
DE   imaging shows decreased cortical white matter, often with decreased
DE   cerebellar white matter, thin corpus callosum, and thin brainstem.
DR   MIM; 617807; phenotype.
DR   MedGen; CN698604.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia.
AC   DI-05720
AR   NEDBASH.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay with severely impaired intellectual development, impaired motor
DE   development, axial and peripheral hypotonia, poor speech and
DE   significant behavioral abnormalities, including autism spectrum
DE   disorder, hyperactivity, mood disorders, aggression, hand and face
DE   stereotypies, sleep disturbances, anxiety, self-injurious behavior,
DE   and bruxism.
DR   MIM; 618718; phenotype.
DR   MedGen; CN263069.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies.
AC   DI-03799
AR   NEDBGF.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, and speech delay apparent
DE   from infancy or early childhood. Most patients have dysmorphic facial
DE   features, and white matter abnormalities on brain imaging. More
DE   variable features may include teeth anomalies, distal joint
DE   contractures, spasticity, peripheral neuropathy, and behavioral
DE   problems.
SY   MRT36.
DR   MIM; 615286; phenotype.
DR   MedGen; C3809039.
DR   MedGen; CN178070.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies.
AC   DI-05732
AR   NEDBAVC.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe developmental delay, impaired intellectual development,
DE   hypotonia, brain anomalies including cortical volume loss, corpus
DE   callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic
DE   features. Patients may have platyspondyly, scoliosis, and cardiac
DE   anomalies.
DR   MIM; 618731; phenotype.
DR   MedGen; CN263123.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis.
AC   DI-05663
AR   NEDBSS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, severe-to-profound intellectual disability, muscular hypotonia,
DE   seizures, brain anomalies, including thin corpus callosum and
DE   cerebellar atrophy, scoliosis, and mild facial dysmorphism.
SY   Glycosylphosphatidylinositol biosynthesis defect 21.
SY   GPIBD21.
DR   MIM; 618590; phenotype.
DR   MedGen; CN262319.
DR   MeSH; D008607.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
AC   DI-05985
AR   NEDCASB.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, moderate to severe intellectual
DE   disability, spastic paraparesis, ataxia, and/or peripheral neuropathy.
DE   Patients also exhibit dysmorphic features and congenital microcephaly.
DE   Most affected individuals develop progressive hypertrophic
DE   cardiomyopathy in childhood or have cardiac developmental anomalies.
DE   Brain imaging shows corpus callosum abnormalities in all patients, and
DE   perisylvian polymicrogyria-like pattern in some individuals.
DR   MIM; 619121; phenotype.
DR   MedGen; CN293584.
DR   MeSH; D065886.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies.
AC   DI-05656
AR   NDCAGF.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe global developmental delay with motor impairment, cognitive
DE   delays, absent or severely limited speech, dysmorphic features,
DE   hypotonia and cataracts.
DR   MIM; 618571; phenotype.
DR   MedGen; CN262314.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with central and peripheral motor dysfunction.
AC   DI-05508
AR   NEDCPMD.
DE   An autosomal recessive neurodevelopmental disorder with early onset
DE   and a highly variable phenotype. Disease features include hypotonia
DE   apparent from birth, poor feeding, global developmental delay with
DE   absence of reaction to touch and no eye contact, infantile-onset
DE   progressive ataxia and demyelinating peripheral neuropathy.
DR   MIM; 618356; phenotype.
DR   MedGen; CN258246.
DR   MeSH; D000015.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with central hypotonia and dysmorphic facies.
AC   DI-06368
AR   NEDCHF.
DE   An autosomal dominant disease characterized by global developmental
DE   delay, impaired intellectual development, seizures, distinctive facial
DE   features, scoliosis, delayed closure of the anterior fontanel, and
DE   non-specific brain abnormalities.
DR   MIM; 619797; phenotype.
DR   MedGen; CN307059.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.
AC   DI-06113
AR   NEDCAM.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay with predominantly motor abnormalities, axial hypotonia with
DE   decreased or absent reflexes, gait ataxia and appendicular spasticity.
DE   Affected individuals have cognitive impairment and speech delay. Brain
DE   imaging shows cerebellar atrophy.
DR   MIM; 619333; phenotype.
DR   MedGen; CN296891.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.
AC   DI-05303
AR   NEDCAS.
DE   An autosomal recessive disorder characterized by psychomotor
DE   developmental delay manifesting in infancy, cerebellar atrophy,
DE   decreased myelination, and seizures in most patients. Additional
DE   features include intellectual disability, ataxia or dyspraxia,
DE   hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle
DE   dysmorphisms, and visual impairment in some patients.
DR   MIM; 618056; phenotype.
DR   MedGen; CN252657.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with cerebellar hypoplasia and spasticity.
AC   DI-05657
AR   NEDCHS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, profound intellectual disability,
DE   seizures, absent speech, spasticity, facial and limb dysmorphism, and
DE   subtle structural brain abnormalities including cerebellar hypoplasia.
DR   MIM; 618572; phenotype.
DR   MedGen; CN262315.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism.
AC   DI-06068
AR   NEDCAFD.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent from birth, moderate-to-severe intellectual disability,
DE   poor or absent speech, and hypotonia. Most patients have variable
DE   dysmorphic facial features. Brain imaging shows corpus callosum
DE   agenesis, mild ventriculomegaly, simplified gyral pattern, and
DE   cerebral atrophy.
DR   MIM; 619244; phenotype.
DR   MedGen; CN296165.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.
AC   DI-05608
AR   NEDCFSA.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, variable intellectual disability, poor language acquisition,
DE   and dysmorphic facial features including a prominent nasal bridge and
DE   coarse features. Some patients manifest autism spectrum disorder.
DE   Musculoskeletal features may be present and include widened and
DE   thickened hands and fingers, joint hypermobility, clinodactyly of the
DE   fifth fingers, and toe syndactyly.
DR   MIM; 618505; phenotype.
DR   MedGen; CN260725.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects.
AC   DI-06524
AR   NEDCDS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, severely impaired intellectual development with poor or absent
DE   speech, characteristic dysmorphic facial features, and variable
DE   skeletal abnormalities. Additional features include feeding
DE   difficulties, inability to walk or walking with an abnormal gait, and
DE   cerebellar or other abnormalities on brain imaging.
DR   MIM; 620083; phenotype.
DR   MedGen; CN322327.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities.
AC   DI-06735
AR   NEDFBA.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   intellectual disability, speech delay, hypotonia, behavioral
DE   abnormalities, and non-specific dysmorphic facial features. Some
DE   patients have variable skeletal and cardiac anomalies.
DR   MIM; 620489; phenotype.
DR   MedGen; CN372727.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia.
AC   DI-06096
AR   NEDFACH.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, intellectual disability, facial dysmorphism, and abnormalities
DE   of the cerebellum observed on brain imaging. Disease severity is
DE   variable. Some affected individuals have poor overall growth with
DE   microcephaly, delayed walking, spasticity, and poor or absent speech.
DE   Others may achieve more significant developmental milestones.
DE   Additional variable manifestations may include cardiac ventricular
DE   septal defect, spasticity, cataracts, optic nerve hypoplasia,
DE   seizures, and joint contractures.
DR   MIM; 619306; phenotype.
DR   MedGen; CN296589.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
AC   DI-05137
AR   NEDDFL.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   variable degrees of developmental delay, intellectual disability,
DE   speech delay, postnatal microcephaly, dysmorphic features, and mild
DE   abnormalities of the hands and feet.
DR   MIM; 617755; phenotype.
DR   MedGen; CN596206.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies.
AC   DI-05703
AR   NEDDFSA.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability, developmental delay, poor language acquisition, behavioral
DE   abnormalities, growth failure, feeding difficulties, microcephaly,
DE   facial dysmorphism, and mild skeletal anomalies of the hands and feet.
DR   MIM; 618659; phenotype.
DR   MedGen; CN262874.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia.
AC   DI-06588
AR   NEDFIH.
DE   An autosomal recessive disorder characterized by moderate to severe
DE   global developmental delay, facial dysmorphism, and ischiopubic
DE   synchondrosis hypoplasia. Affected individuals show infection-
DE   triggered lymphopenia, and loss of developmental milestones associated
DE   with epileptic spasms. Diminished white matter volume, enlarged
DE   ventricles, and thin corpus callosum are visible on brain imaging.
DR   MIM; 620210; phenotype.
DR   MedGen; CN323171.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities.
AC   DI-06523
AR   NEDDFSB.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay with impaired intellectual development and poor or absent
DE   speech, corpus callosum structural defects and cerebellar hypoplasia
DE   on brain imaging, poor overall growth, facial dysmorphism, and
DE   skeletal defects. Variable additional findings include hypotonia,
DE   seizures, and ocular defects.
DR   MIM; 620073; phenotype.
DR   MedGen; CN322299.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum.
AC   DI-06198
AR   NEDDFAC.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, impaired intellectual development with poor or absent speech
DE   and language, and autistic-like behaviors. Corpus callosum anomalies
DE   are visible on brain imaging. Most patients have dysmorphic features
DE   including tall forehead, down-slanting palpebral fissures, ear
DE   anomalies and broad nasal bridge. Other variably present clinical
DE   features include seizures, sleeping difficulties and precocious
DE   puberty.
DR   MIM; 619480; phenotype.
DR   MedGen; CN300336.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies and variable seizures.
AC   DI-06069
AR   NEDDFAS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay apparent in early childhood, mildly impaired intellectual
DE   development, speech delay, behavioral abnormalities, and non-specific
DE   dysmorphic facial features. Some patients may have seizures, brain
DE   imaging abnormalities, mild skeletal defects, and renal abnormalities.
DR   MIM; 619264; phenotype.
DR   MedGen; CN296333.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia.
AC   DI-05909
AR   NEDDISH.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, mildly to severely impaired intellectual development, poor
DE   speech and language acquisition. Some patients may have early normal
DE   development with onset of the disorder in the first years of life.
DE   More variable neurologic abnormalities include hypotonia, seizures,
DE   apnea, mild signs of autonomic or peripheral neuropathy, and autism.
DR   MIM; 619005; phenotype.
DR   MedGen; CN283362.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities.
AC   DI-05983
AR   NEDFASB.
DE   A neurodevelopmental disorder characterized by severe global
DE   developmental delay, intellectual disability, poor or absent language,
DE   behavioral abnormalities, severe sleep disturbance, seizures, cerebral
DE   malformations, and craniofacial dysmorphism. Progressive cerebellar
DE   atrophy is also observed. Additional features may include
DE   genitourinary tract anomalies, hearing loss, and mild distal skeletal
DE   defects.
DR   MIM; 619103; phenotype.
DR   MedGen; CN293573.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities.
AC   DI-04086
AR   NEDDSBA.
DE   An autosomal recessive disorder characterized by severely delayed
DE   global development, with hypotonia, impaired intellectual development,
DE   and poor or absent speech. Most patients have spasticity with limb
DE   hypertonia and brisk tendon reflexes. Additional features include non-
DE   specific dysmorphic facial features, structural brain abnormalities,
DE   and cortical visual impairment.
SY   Glycosylphosphatidylinositol biosynthesis defect 9.
SY   GPIBD9.
SY   MRT42.
DR   MIM; 615802; phenotype.
DR   MedGen; CN187210.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with dystonia and seizures.
AC   DI-06428
AR   NEDDS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, inability to walk or speak, profoundly impaired intellectual
DE   development, and early-onset dystonia. Additional features may include
DE   other extrapyramidal movements, seizures or seizure-like activity, and
DE   cerebellar hypoplasia on brain imaging.
DR   MIM; 619922; phenotype.
DR   MedGen; CN315597.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1023:Dystonia.
//
ID   Neurodevelopmental disorder with epilepsy and brain atrophy.
AC   DI-06456
AR   NEDEBA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, early-onset progressive myoclonus epilepsy and ataxia. Brain
DE   imaging shows progressive atrophy.
DR   MIM; 619971; phenotype.
DR   MedGen; CN315821.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with epilepsy and hemochromatosis.
AC   DI-06376
AR   NEDEPH.
DE   An X-liked recessive disorder characterized by severe developmental
DE   delay, intellectual disability, early-onset epilepsy, and early
DE   systemic iron overload resulting in juvenile-onset hemochromatosis.
DE   Variable additional features may include joint contractures, visual or
DE   hearing impairment, and skin abnormalities.
SY   FCCS.
SY   Ferro-cerebro-cutaneous syndrome.
DR   MIM; 301072; phenotype.
DR   MedGen; CN307964.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
AC   DI-05312
AR   NEDEHCC.
DE   An autosomal recessive disorder characterized by severe psychomotor
DE   delay, intellectual disability, hypotonia, epilepsy, and corpus
DE   callosum hypoplasia. Some patients show mild cerebellar hypoplasia and
DE   atrophy.
DR   MIM; 618090; phenotype.
DR   MedGen; CN252703.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.
AC   DI-04969
AR   NECFM.
DE   A neurodevelopmental disorder characterized by microcephaly, profound
DE   developmental delay, intellectual disability, cataracts, severe
DE   epilepsy including infantile spasms, irritability, failure to thrive,
DE   and stereotypic hand movements. Brain imaging reveals delayed
DE   myelination and cerebral atrophy.
DR   MIM; 617393; phenotype.
DR   MedGen; CN241829.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
AC   DI-05749
AR   NEDESBA.
DE   An autosomal recessive disorder characterized by severely impaired
DE   global development apparent soon after birth, early-onset seizures,
DE   lack of psychomotor development, spastic quadriparesis, progressive
DE   cortical and cerebellar atrophy, and dysmorphic features, including
DE   microcephaly. Death in childhood may occur.
DR   MIM; 618741; phenotype.
DR   MedGen; CN263281.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with eye movement abnormalities and ataxia.
AC   DI-06525
AR   NEDEMA.
DE   An autosomal dominant disorder apparent from infancy and characterized
DE   by global developmental delay, intellectual disability, speech
DE   difficulties, ataxia, seizures, and abnormalities of eye movement.
DR   MIM; 620094; phenotype.
DR   MedGen; CN322365.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly.
AC   DI-06513
AR   NEDFLPH.
DE   An autosomal recessive disorder with onset in infancy and
DE   characterized by global developmental delay, intellectual disability,
DE   dysmorphic facial features, coarse facies, and behavioral problems.
DE   Affected individuals may have variable findings on brain imaging, such
DE   as cortical atrophy, thin corpus callosum and enlarged ventricles.
DE   Laboratory studies show nuclear lobulation defects in a subset of
DE   neutrophils, indicating a pseudo-Pelger-Huet anomaly.
DR   MIM; 620075; phenotype.
DR   MedGen; CN322317.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity.
AC   DI-04004
AR   NEDFCF.
DE   An autosomal recessive disorder characterized by impaired intellectual
DE   development, microcephaly, delayed psychomotor development, pyramidal
DE   signs, thin corpus callosum, and foot deformity.
SY   MRT40.
DR   MIM; 615599; phenotype.
DR   MedGen; C3810080.
DR   MedGen; CN183731.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities.
AC   DI-06545
AR   NEDGFC.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   developmental delay, intellectual disability, and absent speech.
DE   Patients have microcephaly, hypoplasia or agenesis of the corpus
DE   callosum, growth retardation, and craniofacial dysmorphism.
DR   MIM; 620113; phenotype.
DR   MedGen; CN322432.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hearing loss and spasticity.
AC   DI-06272
AR   NEDHLS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   hearing loss, global developmental delay, impaired intellectual
DE   development, hypotonia, spastic-dystonic cerebral palsy, focal or
DE   generalized epilepsy, and microcephaly.
DR   MIM; 619616; phenotype.
DR   MedGen; CN304367.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities.
AC   DI-04554
AR   NEDHSB.
DE   An autosomal recessive disorder characterized by intellectual
DE   disability, intractable epilepsy, microcephaly, abnormal muscle tone,
DE   and sensorineural hearing loss.
SY   EHLMRS.
DR   MIM; 616577; phenotype.
DR   MedGen; CN233035.
DR   MeSH; D004827.
DR   MeSH; D006319.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hyperkinetic movements and dyskinesia.
AC   DI-06286
AR   NEDHYD.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay, axial hypotonia, impaired intellectual
DE   development, poor overall growth, and abnormal involuntary
DE   hyperkinetic movements.
DR   MIM; 619651; phenotype.
DR   MedGen; CN305152.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements.
AC   DI-05751
AR   NEDHAHM.
DE   An autosomal dominant disorder characterized by axial hypotonia
DE   apparent at birth, global developmental delay, intellectual
DE   disability, seizures, and autistic features. Involuntary hyperkinetic
DE   movements are present in some patients.
DR   MIM; 618760; phenotype.
DR   MedGen; CN263233.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and brain abnormalities.
AC   DI-06219
AR   NEDHYBA.
DE   An autosomal dominant disorder characterized by onset in infancy or
DE   early childhood, global developmental delay, hypotonia, impaired
DE   intellectual development, and poor or absent speech. Additional
DE   variable manifestations may be present, including feeding
DE   difficulties, seizures, behavioral abnormalities, and non-specific
DE   dysmorphic facial features. Brain imaging shows variable
DE   abnormalities, including corpus callosum and cerebellar defects, and
DE   decreased white matter volume.
DR   MIM; 619512; phenotype.
DR   MedGen; CN300409.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures.
AC   DI-05837
AR   NEDHCAS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, intellectual disability, hypotonia,
DE   cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or
DE   absent speech, and epilepsy in most patients. Some patients manifest
DE   facial dysmorphism. Disease onset is in infancy.
SY   Glycosylphosphatidylinositol biosynthesis defect 22.
SY   GPIBD22.
DR   MIM; 618879; phenotype.
DR   MedGen; CN280934.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and dysmorphic facies.
AC   DI-06217
AR   NEDHYDF.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, hypotonia, and variably impaired intellectual development,
DE   often with speech delay and delayed walking. Most patients have
DE   dysmorphic facial features. Clinical features are highly variable and
DE   may include congenital cardiac defects, non-specific renal anomalies,
DE   joint contractures or joint hyperextensibility, dry skin, and
DE   cryptorchidism.
DR   MIM; 619503; phenotype.
DR   MedGen; CN300394.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and gross motor and speech delay.
AC   DI-06284
AR   NEDHMS.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay apparent from infancy, axial hypotonia, limited or
DE   absent ability to walk, impaired intellectual development, and poor or
DE   absent speech. Additional features may include seizures, behavioral
DE   problems, distal skeletal anomalies, and facial dysmorphism.
DR   MIM; 619639; phenotype.
DR   MedGen; CN304980.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures.
AC   DI-06734
AR   NEDHSS.
DE   A disorder characterized by global developmental delay, intellectual
DE   disability, poor or absent speech, hypotonia, epilepsy, and structural
DE   brain anomalies. Inheritance is autosomal dominant or autosomal
DE   recessive.
DR   MIM; 620455; phenotype.
DR   MedGen; CN372453.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities.
AC   DI-05667
AR   NEDHIB.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   profound infantile-onset hypotonia, developmental delay with poor
DE   speech, delayed walking, and impaired intellectual development.
DE   Additional variable features include feeding difficulties, dysmorphic
DE   features, and visual defects.
DR   MIM; 618603; phenotype.
DR   MedGen; CN262335.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures.
AC   DI-03405
AR   NEDHCS.
DE   An autosomal recessive disease characterized by severe psychomotor
DE   retardation, intractable seizures, dysmorphic features, and a lumpy
DE   skull surface. Patients are hypotonic and have poor feeding in the
DE   neonatal period.
SY   PMRED.
SY   Psychomotor retardation, epilepsy, and craniofacial dysmorphism.
DR   MIM; 614501; phenotype.
DR   MedGen; C3281055.
DR   MeSH; D004827.
DR   MeSH; D011596.
DR   MeSH; D019465.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures.
AC   DI-06597
AR   NEDFSS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, moderate to severely impaired intellectual development, poor or
DE   absent speech, congenital hypotonia, dysmorphic facial features,
DE   exotropia, and musculoskeletal issues such as hip dysplasia, hip
DE   dislocation and scoliosis. About half of patients develop various
DE   types of seizures.
DR   MIM; 620224; phenotype.
DR   MedGen; CN323205.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities.
AC   DI-06586
AR   NEDHFS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe developmental and speech delay, dysmorphic facial features, ear
DE   anomalies, high arched palate, strabismus, hypotonia, and keratosis
DE   pilaris. Early obesity and seizures may be present in affected
DE   individuals.
DR   MIM; 620191; phenotype.
DR   MedGen; CN322830.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities.
AC   DI-06138
AR   NEDHFBA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, severely impaired intellectual development, hypotonia, coarse
DE   facial features, and muscle weakness, often resulting in the inability
DE   to walk or sit. Additional features include feeding difficulties,
DE   respiratory distress, scoliosis, poor visual function, and rotary
DE   nystagmus. Brain imaging shows variable abnormalities, including
DE   enlarged ventricles, decreased white matter volume, white matter
DE   changes, thin corpus callosum, and cerebellar hypoplasia.
DR   MIM; 619383; phenotype.
DR   MedGen; CN299209.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures.
AC   DI-04854
AR   NEDHELS.
DE   An autosomal recessive disorder characterized by psychomotor delay,
DE   epilepsy, intellectual disability, speech impairment and dyskinesia of
DE   the limbs. Patients also manifest autistic features and other
DE   behavioral abnormalities.
SY   DYSEIDD.
SY   Dyskinesia, seizures, and intellectual developmental disorder.
DR   MIM; 617171; phenotype.
DR   MedGen; CN238846.
DR   MeSH; D008607.
DR   MeSH; D012640.
DR   MeSH; D020820.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities.
AC   DI-06412
AR   NEDHISB.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, impaired intellectual development, delayed or absent speech,
DE   hypotonia, behavioral abnormalities, and epilepsy that ranges from
DE   self-limiting to intractable. More variable features include non-
DE   specific dysmorphic facial features, distal skeletal anomalies, and
DE   brain imaging abnormalities.
DR   MIM; 619854; phenotype.
DR   MedGen; CN312022.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures.
AC   DI-06503
AR   NEDHLSS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay apparent from infancy, intellectual disability, poor or absent
DE   speech, behavioral abnormalities, and hypotonia with delayed walking
DE   or inability to walk. Additional features include epilepsy, mild
DE   skeletal defects, and non-specific dysmorphic features.
DR   MIM; 620029; phenotype.
DR   MedGen; CN322036.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, microcephaly, and seizures.
AC   DI-05827
AR   NEDHYMS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay with axial hypotonia, inability to sit or
DE   walk, impaired intellectual development with absent language, and
DE   early-onset intractable seizures in most patients. Additional features
DE   include poor overall growth, microcephaly, dysmorphic features, poor
DE   eye contact due to cortical blindness, and non-specific brain
DE   abnormalities.
DR   MIM; 618862; phenotype.
DR   MedGen; CN280872.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation.
AC   DI-05772
AR   NEDHRIT.
DE   An autosomal recessive disorder characterized by profound
DE   neurodevelopmental disability, muscular hypotonia, feeding
DE   abnormalities, recurrent fever episodes, infantile spasms, and
DE   moderate dysmorphic facial features. Brain imaging shows thin corpus
DE   or dysplastic corpus callosum, and additional unspecific abnormalities
DE   including gray matter heterotopias, ectopic posterior pituitary,
DE   signal abnormalities in basal ganglia, and stratum subependymale.
DR   MIM; 618797; phenotype.
DR   MedGen; CN263344.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
AC   DI-05015
AR   NEDHND.
DE   An autosomal recessive disorder characterized by congenital myopathy
DE   with hypotonia and muscle weakness manifesting after birth and
DE   progressing to generalized muscle atrophy, central deafness with
DE   absent brainstem-evoked potentials, and a combined axonal and
DE   demyelinating motor neuropathy.
SY   CMND.
SY   Myopathy, congenital, with neuropathy and deafness.
DR   MIM; 617519; phenotype.
DR   MedGen; CN251650.
DR   MeSH; D009468.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
//
ID   Neurodevelopmental disorder with hypotonia, seizures, and absent language.
AC   DI-04894
AR   NDHSAL.
DE   A neurodevelopmental disorder characterized by severely delayed
DE   psychomotor development, absent speech, epilepsy, encephalopathy,
DE   hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show
DE   cerebral atrophy, enlarged ventricles, and white matter abnormalities.
DR   MIM; 617268; phenotype.
DR   MedGen; CN239935.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language.
AC   DI-02856
AR   NEDHSIL.
DE   An autosomal dominant disorder characterized by impaired intellectual
DE   development, absent speech, hypotonia, poor eye contact and
DE   stereotypic movements. Dysmorphic features include high broad forehead
DE   with variable small chin, short nose with anteverted nares, large open
DE   mouth, upslanted palpebral fissures and prominent eyebrows. Some
DE   patients have seizures.
SY   MRD20.
DR   MIM; 613443; phenotype.
DR   MedGen; C3150700.
DR   MeSH; D004827.
DR   MeSH; D008607.
DR   MeSH; D019956.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.
AC   DI-05468
AR   NEDIDHA.
DE   An autosomal recessive disease characterized by global developmental
DE   delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech,
DE   and variable and mild dysmorphic features.
DR   MIM; 618292; phenotype.
DR   MedGen; CN258148.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with impaired language and ataxia and with or without seizures.
AC   DI-06241
AR   NEDLAS.
DE   An autosomal dominant disorder characterized by axial hypotonia and
DE   global developmental delay. Affected individuals show impaired
DE   intellectual development, delayed walking, poor speech, and behavioral
DE   abnormalities. Some patients have a more severe phenotype with early-
DE   onset seizures resembling epileptic encephalopathy, inability to walk
DE   or speak, and hypomyelination on brain imaging.
DR   MIM; 619580; phenotype.
DR   MedGen; CN301097.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies.
AC   DI-06736
AR   NEDLBF.
DE   A disorder characterized by global developmental delay, speech delay,
DE   variably impaired intellectual development, behavioral abnormalities,
DE   and dysmorphic facial features. Additional features include early
DE   feeding difficulties, failure to thrive, short stature, mild visual
DE   impairment, hypotonia, seizures, and distal skeletal defects of the
DE   hands and feet.
DR   MIM; 620494; phenotype.
DR   MedGen; CN372729.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
AC   DI-05564
AR   NEDISHM.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, delayed walking, poor or
DE   absent speech, and a hyperkinetic movement disorder with dystonia,
DE   tremor, ataxia, or chorea. Some patients develop seizures.
DR   MIM; 618425; phenotype.
DR   MedGen; CN258385.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with infantile epileptic spasms.
AC   DI-06137
AR   NEDIES.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   onset of severe and frequent epileptic spasms within the first year of
DE   life. Affected individuals have global developmental delay with
DE   delayed walking and poor or absent speech. More variable features may
DE   include poor overall growth, high-arched palate, and delayed
DE   myelination on brain imaging.
DR   MIM; 619373; phenotype.
DR   MedGen; CN297468.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies.
AC   DI-06480
AR   NEDITPO.
DE   An autosomal recessive disorder characterized by characterized by mild
DE   to moderate intellectual disability, dysmorphic facial features,
DE   intention tremor, dyspraxia, and vertical strabismus.
DR   MIM; 619995; phenotype.
DR   MedGen; CN315941.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity.
AC   DI-06684
AR   NEDIHSS.
DE   An autosomal recessive disease characterized by prenatal or neonatal
DE   onset of intracranial hemorrhage, ventriculomegaly and cerebral
DE   calcifications. Affected individuals have profound global
DE   developmental delay, intellectual disability, epilepsy, absent or
DE   severely delayed speech, and varying degrees of spasticity. Death in
DE   utero or in early childhood may occur.
DR   MIM; 620371; phenotype.
DR   MedGen; CN327133.
DR   MeSH; D020300.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with involuntary movements.
AC   DI-05010
AR   NEDIM.
DE   A neurodevelopmental disorder manifesting with a wide range of
DE   clinical symptoms. Clinical features range from severe motor and
DE   cognitive impairment with marked choreoathetosis, self-injurious
DE   behavior and epileptic encephalopathy, to a milder phenotype featuring
DE   moderate developmental delay associated with complex stereotypies,
DE   mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements
DE   are often exacerbated by specific triggers, such as illness, emotion
DE   and high ambient temperature. Some patients have brain abnormalities,
DE   such as cerebral atrophy or thin corpus callosum.
DR   MIM; 617493; phenotype.
DR   MedGen; CN244050.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures.
AC   DI-06631
AR   NEDLBAS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay with intellectual disability of varying
DE   severity, speech and motor delay, and behavioral abnormalities,
DE   including autistic features. About half of patients develop seizures.
DR   MIM; 620292; phenotype.
DR   MedGen; CN323721.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with language delay and seizures.
AC   DI-06427
AR   NEDLDS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, intellectual disability, speech delay, and seizures. Additional
DE   features may include axial hypotonia, peripheral hypertonia,
DE   hypothyroidism, and non-specific dysmorphic features or brain imaging
DE   abnormalities.
DR   MIM; 619908; phenotype.
DR   MedGen; CN315588.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with language delay and variable cognitive abnormalities.
AC   DI-06758
AR   NEDLC.
DE   An autosomal dominant disorder characterized by language delay ranging
DE   from mild to severe, varying degrees of intellectual disability, and
DE   learning difficulties. Additional features include early motor delay,
DE   muscular hypotonia, behavioral abnormalities, sleep disorders, and
DE   seizures.
DR   MIM; 620502; phenotype.
DR   MedGen; CN372879.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with language impairment and behavioral abnormalities.
AC   DI-05861
AR   NEDLIB.
DE   A neurodevelopmental disorder characterized by global developmental
DE   delay, impaired intellectual development, poor or absent speech, and
DE   behavioral abnormalities, such as autism spectrum disorder, repetitive
DE   behaviors, and hyperactivity. Some patients develop seizures and
DE   manifest developmental regression.
DR   MIM; 618917; phenotype.
DR   MedGen; CN283239.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with microcephaly and gray sclerae.
AC   DI-04776
AR   NEDMIGS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, hypotonia, profoundly impaired intellectual development with
DE   poor or absent language, mild microcephaly, abnormal visual fixation,
DE   and seizures in most patients. Affected individuals also have gray
DE   sclerae.
SY   MRT55.
DR   MIM; 617051; phenotype.
DR   MedGen; CN237814.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly and movement abnormalities.
AC   DI-06721
AR   NEDMIM.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development with language impairment
DE   ranging from delayed speech to non-verbal, and delayed walking with an
DE   abnormal gait. Affected individuals may show hypotonia or hypertonia
DE   with spasticity, ataxia, and choreoathetoid movements. Most patients
DE   have microcephaly, non-specific dysmorphic features and short stature.
DE   Additional variable features include ocular defects, seizures, brain
DE   malformations, and skeletal defects.
DR   MIM; 620445; phenotype.
DR   MedGen; CN372368.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities.
AC   DI-06654
AR   NEDMSBA.
DE   An autosomal recessive disorder apparent from early infancy and
DE   characterized by global developmental delay, delayed or absent
DE   walking, impaired intellectual development, poor or absent speech, and
DE   postnatal progressive microcephaly. Additional variable features
DE   include cortical visual impairment, seizures, hypotonia, spasticity,
DE   and sensorineural deafness. Brain anomalies including myelination
DE   defects, cortical atrophy, or thin corpus callosum are present in most
DE   patients.
DR   MIM; 620317; phenotype.
DR   MedGen; CN327015.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly and structural brain anomalies.
AC   DI-05606
AR   NEDMIBA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, severe intellectual disability,
DE   microcephaly, dysmorphic facial features, and cerebral malformations
DE   including simplification of cerebral gyration, agenesis of the corpus
DE   callosum, and brainstem and white matter hypoplasia.
DR   MIM; 618492; phenotype.
DR   MedGen; CN260577.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies.
AC   DI-05678
AR   NEDMABA.
DE   An autosomal recessive disorder characterized by severe global
DE   developmental delay, severely impaired intellectual development with
DE   poor or absent speech, severe encephalopathy, microcephaly with
DE   simplified gyral pattern, hypomyelination, thin corpus callosum, mild
DE   cerebellar hypoplasia, brainstem hypoplasia, congenital
DE   arthrogryposis, dysmorphic features, and respiratory problems often
DE   leading to early demise.
DR   MIM; 618622; phenotype.
DR   MedGen; CN262441.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
AC   DI-05110
AR   NEDMAS.
DE   An autosomal recessive disorder characterized by delayed psychomotor
DE   development, intellectual disability, seizures apparent in infancy,
DE   impaired speech, and aggressive behavior. Additional features include
DE   microcephaly, ataxia, and muscle weakness.
DR   MIM; 617709; phenotype.
DR   MedGen; CN525653.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.
AC   DI-05220
AR   NEDMCR.
DE   An autosomal recessive, severe neurodevelopmental disorder
DE   characterized by global developmental delay since infancy,
DE   microcephaly, poor or absent speech, and inability to walk or
DE   spasticity. Additional features include renal abnormalities,
DE   congenital cataracts, gastroesophageal reflux disease, seizures with
DE   onset in infancy or childhood, hyporeflexia, and non-specific white
DE   matter abnormalities on brain imaging.
DR   MIM; 617913; phenotype.
DR   MedGen; CN889218.
DR   MeSH; D000015.
//
ID   Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment.
AC   DI-06518
AR   NEDMVIC.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, intellectual disability, facial dysmorphism, and microcephaly.
DR   MIM; 620066; phenotype.
DR   MedGen; CN322058.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity.
AC   DI-05731
AR   NEDMCMS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   developmental delay, severe to profound intellectual disability,
DE   congenital microcephaly, cortical polymicrogyria, lissencephaly,
DE   reduced central white matter volume, and drug-resistant epilepsy, lack
DE   of speech, absent ambulation and a progressive neurodegenerative
DE   course in most patients. Early death may occur in some patients.
DR   MIM; 618730; phenotype.
DR   MedGen; CN263147.
DR   MeSH; D065886.
KW   KW-0451:Lissencephaly.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
AC   DI-05188
AR   NEDMEBA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   microcephaly, global developmental delay, hypotonia, intellectual
DE   disability, autistic features such as poor social interaction,
DE   language impairment and repetitive automatism behaviors, and
DE   generalized tonic-clonic seizures. Brain imaging shows cortical
DE   atrophy, thin corpus callosum, and cerebellar and brainstem atrophy.
DR   MIM; 617862; phenotype.
DR   MedGen; CN787271.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
AC   DI-05514
AR   NEDMEHM.
DE   An autosomal recessive neurodevelopmental disorder with onset at birth
DE   or in early infancy, and characterized by microcephaly, short stature,
DE   severe global developmental delay, progressive spasticity, and
DE   epilepsy. Brain imaging shows delayed myelination, hypomyelination,
DE   enlarged ventricles, and cerebellar atrophy.
DR   MIM; 618367; phenotype.
DR   MedGen; CN258265.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with microcephaly, hypotonia, and absent language.
AC   DI-06505
AR   NEDMHAL.
DE   An autosomal recessive disorder characterized by microcephaly,
DE   intellectual disability with absent speech, severe developmental
DE   delay, short stature, and hypotonia. Affected individuals also
DE   manifest aggressive behavior and have hearing loss.
DR   MIM; 620038; phenotype.
DR   MedGen; CN322037.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.
AC   DI-05004
AR   NMIHBA.
DE   An autosomal recessive neurodevelopmental and degenerative disorder
DE   characterized by primary microcephaly, profound global developmental
DE   delay, and severe intellectual disability. Additional clinical
DE   features include dysmorphic features, truncal hypotonia, peripheral
DE   spasticity, and lack of independent ambulation or speech acquisition.
DE   Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar
DE   hypoplasia, and delayed myelination.
DR   MIM; 617481; phenotype.
DR   MedGen; CN243994.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0905:Primary microcephaly.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures.
AC   DI-06424
AR   NEDMHS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay and impaired intellectual development apparent from infancy.
DE   Affected individuals have hypotonia, poor or absent motor skills,
DE   feeding difficulties with poor overall growth, microcephaly, mild
DE   dysmorphic features, and early-onset seizures. Additional variable
DE   features include nystagmus, cortical blindness, and spasticity.
DR   MIM; 619876; phenotype.
DR   MedGen; CN315591.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities.
AC   DI-05962
AR   NEDMILG.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay apparent in infancy, moderate to profound
DE   intellectual disability, poor or absent speech and language, delayed
DE   walking with variable gait abnormalities, and progressive
DE   microcephaly. Additional variable features include hypotonia, early-
DE   onset seizures, and a peripheral demyelinating or axonal peripheral
DE   sensorimotor neuropathy.
DR   MIM; 619091; phenotype.
DR   MedGen; CN293519.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities.
AC   DI-05963
AR   NEDMILEG.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay apparent in infancy, delayed walking,
DE   ataxia, spasticity, impaired intellectual development with poor or
DE   absent speech and language, progressive microcephaly, and early-onset
DE   seizures in most patients. Facial dysmorphism and a demyelinating
DE   peripheral neuropathy may also be observed.
DR   MIM; 619092; phenotype.
DR   MedGen; CN293520.
DR   MeSH; D065886.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures.
AC   DI-06497
AR   NEDMIMS.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe global developmental delay, impaired intellectual development,
DE   microcephaly, early-onset seizures, and movement abnormalities.
DR   MIM; 620023; phenotype.
DR   MedGen; CN316036.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy.
AC   DI-05953
AR   NEDMISB.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe global developmental delay, developmental regression with loss
DE   of milestones, severe microcephaly, and brain abnormalities, primarily
DE   cerebral atrophy and hypoplasia of the corpus callosum. Affected
DE   individuals develop seizures in the first year of life. Death in
DE   childhood may occur.
DR   MIM; 619076; phenotype.
DR   MedGen; CN293422.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
AC   DI-05161
AR   NDMSCA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe developmental delay, intellectual disability, severe
DE   microcephaly, and cortical atrophy.
DR   MIM; 617802; phenotype.
DR   MedGen; CN679649.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis.
AC   DI-06302
AR   NEDMSC.
DE   An autosomal recessive disorder with onset at birth, characterized by
DE   severe global developmental delay, profoundly impaired intellectual
DE   development, progressive microcephaly, seizures, and transient
DE   neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of
DE   the corpus callosum. Death in early childhood may occur.
DR   MIM; 619685; phenotype.
DR   MedGen; CN305736.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0988:Intrahepatic cholestasis.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with microcephaly, short stature, and speech delay.
AC   DI-06499
AR   NEDMISS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, short stature, severely impaired intellectual development,
DE   microcephaly, poor or absent speech, and behavioral abnormalities
DE   including autistic features and aggressive behavior.
DR   MIM; 620027; phenotype.
DR   MedGen; CN318218.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with midbrain and hindbrain malformations.
AC   DI-05017
AR   NEDMHM.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   intellectual disability, speech delay, mild microcephaly, midbrain-
DE   hindbrain malformations, and variable dysmorphic features.
DR   MIM; 617523; phenotype.
DR   MedGen; CN258423.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities.
AC   DI-06709
AR   NEDMLOB.
DE   An autosomal recessive disorder apparent from infancy or early
DE   childhood, and characterized by global developmental delay,
DE   intellectual disability, motor and speech impairment, and brain
DE   abnormalities. Specifically, brain imaging shows progressive cortical
DE   atrophy, cortical gyral simplification, and delayed myelination
DE   affecting cerebrum and cerebellum. Ocular defects can include optic
DE   atrophy, nystagmus, strabismus, and retinal dystrophy. Disease
DE   severity is variable and some patients may die in childhood.
DR   MIM; 620428; phenotype.
DR   MedGen; CN372247.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities.
AC   DI-06187
AR   NEDMOSBA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, speech delay, delayed
DE   walking, and behavioral abnormalities. Some patients develop spastic
DE   tetraplegia with inability to walk independently and never gain proper
DE   speech. Affected individuals may have variable additional features,
DE   including poor overall growth, hypotonia, tremor, ocular anomalies,
DE   seizures, and non-specific dysmorphic facial features.
DR   MIM; 619470; phenotype.
DR   MedGen; CN300330.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction.
AC   DI-06759
AR   NEDRSO.
DE   An autosomal recessive disorder characterized by delayed motor
DE   development and developmental regression after the first year of life,
DE   followed by progressive spasticity with gait alterations, paraparesis,
DE   and oromotor dysfunction. Most individuals have cerebral, cerebellar,
DE   or basal ganglia volume loss.
DR   MIM; 620515; phenotype.
DR   MedGen; CN375537.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.
AC   DI-05190
AR   NEDMAGA.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   infantile-onset global developmental delay, severe to profound
DE   intellectual disability, mildly delayed walking with broad-based and
DE   unsteady gait, and absence of meaningful language. Patients have
DE   features of autism, with repetitive behaviors and poor communication,
DE   but usually are socially reactive and have a happy demeanor. More
DE   variable neurologic features include mild seizures, spasticity, and
DE   peripheral neuropathy.
DR   MIM; 617865; phenotype.
DR   MedGen; CN800196.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties.
AC   DI-04309
AR   NEDRIHF.
DE   An autosomal dominant disorder characterized by severe neonatal
DE   hypotonia, respiratory and feeding difficulties, encephalopathy, and
DE   severe developmental delay. Additional common features may include
DE   seizures, exaggerated startle reflex, abnormal movements, and
DE   dysmorphic facial features.
SY   MRD31.
DR   MIM; 616158; phenotype.
DR   MedGen; CN224984.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with neuromuscular and skeletal abnormalities.
AC   DI-06396
AR   NEDNMS.
DE   An autosomal recessive disorder characterized by developmental delay
DE   apparent from infancy or early childhood, intellectual disability,
DE   hypotonia, peripheral neuropathy, and/or spasticity. Disease severity
DE   is highly variable. Most affected individuals have skeletal defects
DE   and dysmorphic facial features. Some may have ocular or auditory
DE   problems, behavioral abnormalities, and non-specific findings on brain
DE   imaging.
DR   MIM; 619833; phenotype.
DR   MedGen; CN311878.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures.
AC   DI-05719
AR   NEDBAS.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   intellectual disability, seizures, autism spectrum disorder,
DE   behavioral abnormalities, and variable non-specific brain
DE   malformations.
SY   Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures.
DR   MIM; 618709; phenotype.
DR   MedGen; CN263062.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart.
AC   DI-04746
AR   NEDBEH.
DE   An autosomal dominant syndrome characterized by developmental delay,
DE   intellectual disability, brain anomalies, and neurological
DE   abnormalities including seizures, hypotonia, and behavioral problems
DE   such as autism spectrum disorders. Brain anomalies include
DE   abnormalities and/or thinning of the corpus callosum, diminished white
DE   matter volume, abnormal cerebellar vermis, and ventriculomegaly.
DE   Congenital defects of the eye, heart and genitourinary system are
DE   present in half of the patients.
DR   MIM; 616975; phenotype.
DR   MedGen; CN236788.
DR   MeSH; D000015.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without autism or seizures.
AC   DI-06062
AR   NEDAUS.
DE   An autosomal dominant disorder manifesting in infancy and
DE   characterized by global developmental delay, variably impaired
DE   intellectual development, and speech delay. Some patients have
DE   seizures, others have autistic features or behavioral abnormalities.
DE   Additional variable features include cardiac defects, failure to
DE   thrive, or brain imaging anomalies.
DR   MIM; 619239; phenotype.
DR   MedGen; CN295979.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities.
AC   DI-05826
AR   NEDASB.
DE   An early-onset neurodevelopmental disorder characterized by
DE   intellectual disability, motor and speech delay, autistic features,
DE   hypotonia, feeding difficulties, spasticity or ataxic gait, and
DE   structural brain abnormalities including cerebral atrophy, cerebellar
DE   atrophy, and/or thin corpus callosum.
DR   MIM; 618859; phenotype.
DR   MedGen; CN280871.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Neurodevelopmental disorder with or without early-onset generalized epilepsy.
AC   DI-06010
AR   NEDEGE.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, variably impaired intellectual
DE   development, speech delay, and behavioral abnormalities including
DE   autism or autistic features, attention deficits and hyperactivity, or
DE   aggressive behavior. About half of patients develop early-onset
DE   generalized epilepsy with different seizure types. The disease is
DE   apparent from infancy or early childhood.
DR   MIM; 619157; phenotype.
DR   MedGen; CN295223.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.
AC   DI-05176
AR   NDHMSD.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   severe intellectual disability and developmental delay, absent speech,
DE   muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical
DE   blindness, cerebral atrophy, and seizures are present in some
DE   patients.
SY   MRD8.
DR   MIM; 614254; phenotype.
DR   MedGen; C3280282.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.
AC   DI-05175
AR   NDHMSR.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe intellectual disability and psychomotor developmental delay,
DE   involuntary and stereotypic movements, spasticity, and inability to
DE   walk without support. Intractable seizures manifest in some patients.
DR   MIM; 617820; phenotype.
DR   MedGen; CN737161.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy.
AC   DI-04693
AR   NEDHSCA.
DE   An autosomal recessive disorder characterized by delayed psychomotor
DE   development, hypotonia, and early-onset seizures in most patients.
DE   Additional variable features are cerebellar atrophy, ataxia, and non-
DE   specific dysmorphic features. Some patients may have the Emm-null
DE   blood group phenotype.
SY   Glycosylphosphatidylinositol biosynthesis defect 13.
SY   GPIBD13.
SY   Intellectual developmental disorder, autosomal recessive 53.
SY   MRT53.
DR   MIM; 616917; phenotype.
DR   MedGen; CN236397.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without seizures and gait abnormalities.
AC   DI-05189
AR   NEDSGA.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay apparent from infancy or early childhood,
DE   mild to profound intellectual disability, hypertonia early in life,
DE   which progresses to spasticity and impaired gait later, and behavioral
DE   abnormalities. Some patients may develop seizures of variable severity
DE   early in life.
DR   MIM; 617864; phenotype.
DR   MedGen; CN800195.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without variable brain abnormalities.
AC   DI-05574
AR   NEDBA.
DE   A disorder characterized by global developmental delay, impaired
DE   intellectual development, delayed walking, poor or absent speech, and
DE   variable brain anomalies including perisylvian polymicrogyria,
DE   cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum.
DR   MIM; 618443; phenotype.
DR   MedGen; CN258765.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with or without variable movement or behavioral abnormalities.
AC   DI-06324
AR   NEDMAB.
DE   An autosomal dominant disorder characterized by motor and language
DE   developmental delay, intellectual disability often associated with
DE   early-onset movement disorders comprising cerebellar ataxia and/or
DE   extrapyramidal symptoms. Other variable features include autism
DE   spectrum disorder or autistic features and epilepsy.
DR   MIM; 619725; phenotype.
DR   MedGen; CN306201.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with poor growth and behavioral abnormalities.
AC   DI-06608
AR   NEDGBA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, absent speech, and
DE   behavioral abnormalities, including hyperactivity and attention
DE   deficit disorder. Affected individuals show failure to thrive with
DE   poor overall growth, and some have microcephaly. Additional features
DE   may include non-specific facial dysmorphism, hypotonia, and feeding
DE   difficulties.
DR   MIM; 620242; phenotype.
DR   MedGen; CN323359.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with poor growth and skeletal anomalies.
AC   DI-06426
AR   NEDGS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay and impaired intellectual development apparent from infancy.
DE   Affected individuals present with progressive microcephaly, hypotonia,
DE   delayed walking, poor or absent speech, intellectual disability, and
DE   variable skeletal anomalies. Variable features include seizures, non-
DE   specific dysmorphic facial features, oculomotor apraxia, and non-
DE   specific brain imaging abnormalities.
DR   MIM; 619880; phenotype.
DR   MedGen; CN312178.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies.
AC   DI-06587
AR   NEDGEF.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe global developmental delay, brain malformation, microcephaly,
DE   growth deficiency, and distinct facial dysmorphism. Disease severity
DE   is variable and death in infancy may occur.
DR   MIM; 620194; phenotype.
DR   MedGen; CN322770.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with poor language and loss of hand skills.
AC   DI-05213
AR   NDPLHS.
DE   An autosomal dominant disorder characterized by psychomotor
DE   developmental stagnation or regression. NDPLHS manifest in the first
DE   years of life as loss of purposeful hand movements, loss of language,
DE   and intellectual disability.
DR   MIM; 617903; phenotype.
DR   MedGen; CN870852.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.
AC   DI-05021
AR   NDMSBA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   progressive microcephaly, spastic quadriparesis, global developmental
DE   delay, profound intellectual disability and severely impaired or
DE   absent motor function. More variable features include seizures and
DE   optic atrophy.
DR   MIM; 617527; phenotype.
DR   MedGen; CN265047.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities.
AC   DI-04491
AR   NEDMISBA.
DE   An autosomal recessive disorder characterized by impaired intellectual
DE   development with poor speech, progressive microcephaly, and
DE   appendicular spasticity. Brain imaging usually shows abnormalities,
DE   including enlarged ventricles, white matter defects, and atrophy or
DE   hypoplasia of brain tissue. Some patients have a more severe phenotype
DE   with seizures, lack of developmental milestones, and early death.
SY   MCPH15.
SY   Microcephaly 15, primary, autosomal recessive.
DR   MIM; 616486; phenotype.
DR   MedGen; CN231738.
DR   MeSH; D008831.
KW   KW-0905:Primary microcephaly.
//
ID   Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
AC   DI-05922
AR   NEDSWMA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   developmental delay manifesting in infancy, inability to walk
DE   independently, mild to severe intellectual disability, poor overall
DE   growth, progressive microcephaly, and axial hypotonia. Additional
DE   variable features include brainstem and cerebellar involvement,
DE   seizures, joint contractures, ocular disturbances, episodic
DE   respiratory failure, and facial dysmorphism.
SY   Cerebral palsy, spastic quadriplegic, 1.
SY   CPSQ1.
DR   MIM; 619026; phenotype.
DR   MedGen; CN283413.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
AC   DI-05310
AR   NEDAMSS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay or neurodevelopmental regression, hypotonia, progressive ataxia,
DE   intellectual disability, seizures, and abnormal movements.
DR   MIM; 618088; phenotype.
DR   MedGen; CN252701.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with seizures and brain abnormalities.
AC   DI-06220
AR   NEDSBA.
DE   An autosomal recessive neurologic disorder characterized by global
DE   developmental delay and onset of seizures in the first months of life,
DE   and structural brain defects on brain imaging. Additional features may
DE   include pigmentary retinopathy with poor visual fixation and
DE   spasticity.
DR   MIM; 619517; phenotype.
DR   MedGen; CN300410.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with seizures and brain atrophy.
AC   DI-05952
AR   NEDSEBA.
DE   An autosomal recessive disorder characterized by brain atrophy,
DE   seizures, and developmental delay. Disease severity is variable.
DE   Severely affected individuals develop symptoms in utero, which may
DE   lead to spontaneous abortion. Patients at the mildest end of the
DE   phenotypic spectrum have onset of seizures later in childhood and show
DE   developmental delay with mildly impaired intellectual development and
DE   minimal brain atrophy.
DR   MIM; 619072; phenotype.
DR   MedGen; CN293421.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with seizures and gingival overgrowth.
AC   DI-06108
AR   NEDSGO.
DE   An autosomal recessive disorder with variable clinical manifestations
DE   including delayed development, hypotonia, seizures, gingival
DE   hypertrophy associated with a prominent mandible or cherubism in the
DE   first years of life. Some patients have early normal development
DE   followed by developmental regression. Additional variable features are
DE   coarse facial features, optic atrophy, sensorineural hearing loss, and
DE   ataxia. Brain imaging may show cerebellar or cerebral atrophy and
DE   enlarged ventricles.
DR   MIM; 619323; phenotype.
DR   MedGen; CN296788.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements.
AC   DI-05607
AR   NEDNEH.
DE   An autosomal recessive, complex and progressive neurologic disorder
DE   characterized by severe neurodevelopmental delay and developmental
DE   regression, epileptic encephalopathy, postnatal microcephaly,
DE   hypotonia, and non-epileptic hyperkinetic movement disorder, including
DE   myoclonus dystonia, choreoathetosis, or generalized dyskinesia.
DE   Disease onset in infancy or first years of life.
SY   Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.
DR   MIM; 618497; phenotype.
DR   MedGen; CN260601.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with seizures and speech and walking impairment.
AC   DI-05598
AR   NEDSSWI.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay with intellectual disability and poor speech acquisition, and
DE   walking difficulties due to hypotonia, hypertonia, spasticity, or poor
DE   coordination. Additional features include seizures, mild dysmorphic
DE   features, and variable short stature.
DR   MIM; 618480; phenotype.
DR   MedGen; CN260174.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities.
AC   DI-05868
AR   NEDSHBA.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia, severe to profound intellectual
DE   disability, early-onset epilepsy, and microcephaly. Neuroimaging shows
DE   cerebral atrophy, thin corpus callosum and hypomyelination in a
DE   majority of cases. Death in childhood may occur.
DR   MIM; 618922; phenotype.
DR   MedGen; CN283267.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities.
AC   DI-06498
AR   NEDSMBA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, severe to profound intellectual disability, progressive
DE   microcephaly, refractory early-onset epilepsy, white matter
DE   abnormalities, and periventricular calcifications.
DR   MIM; 620024; phenotype.
DR   MedGen; CN315973.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum.
AC   DI-06623
AR   NEDSSCC.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia, and seizures. Other features
DE   include peripheral spasticity with hyperreflexia, variable dysmorphic
DE   features, impaired intellectual development, behavioral abnormalities,
DE   and hypoplasia or absence of the corpus callosum on brain imaging.
DR   MIM; 620250; phenotype.
DR   MedGen; CN323717.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.
AC   DI-06455
AR   NEDMLHB.
DE   An autosomal recessive disorder with onset soon after birth or in
DE   early infancy. Affected individuals do not show developmental
DE   progress, are unable to sit or walk, do not acquire speech, have poor
DE   visual fixation, and show poor overall growth associated with feeding
DE   problems. Additional variable features include seizures, spasticity,
DE   and joint contractures. Brain imaging shows hypomyelination, thin
DE   corpus callosum, and cerebral and cerebellar atrophy.
DR   MIM; 619972; phenotype.
DR   MedGen; CN315825.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties.
AC   DI-06521
AR   NEDSFF.
DE   An autosomal recessive disorder characterized by distinct craniofacial
DE   features, multisystem dysfunction, profound neurodevelopmental delays,
DE   and neonatal death.
DR   MIM; 620070; phenotype.
DR   MedGen; CN322274.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with spastic diplegia and visual defects.
AC   DI-03652
AR   NEDSDV.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, severe intellectual disability with absent or very limited
DE   speech, microcephaly, spasticity, and visual abnormalities.
SY   MRD19.
DR   MIM; 615075; phenotype.
DR   MedGen; C3554449.
DR   MedGen; CN165603.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with spastic paraplegia and microcephaly.
AC   DI-04363
AR   NEDSPM.
DE   An autosomal recessive syndrome characterized by severe psychomotor
DE   developmental delay, dysarthria, walking difficulties, moderately to
DE   severely impaired intellectual development, poor or absent speech, and
DE   progressive microcephaly.
SY   MRT49.
DR   MIM; 616281; phenotype.
DR   MedGen; CN228786.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.
AC   DI-05249
AR   NEDSBAS.
DE   An autosomal recessive disorder characterized by profound
DE   developmental delay, progressive spastic quadriplegia and
DE   contractures, early-onset refractory epilepsy in most patients, and
DE   brain malformations. Neuroimaging shows ventriculomegaly, reduced
DE   cerebral white matter volume, and thinning of cerebral gray matter.
DR   MIM; 617977; phenotype.
DR   MedGen; CN244929.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
//
ID   Neurodevelopmental disorder with spasticity and poor growth.
AC   DI-05305
AR   NEDSG.
DE   An autosomal recessive disorder apparent soon after birth or in early
DE   infancy. NEDSG is characterized by axial hypotonia, delayed
DE   psychomotor development, poor feeding, failure to thrive, peripheral
DE   spasticity with hyperreflexia, poor overall growth, and microcephaly
DE   in most patients. Additional variable features include contractures,
DE   facial dysmorphisms, and ocular movement abnormalities.
DR   MIM; 618076; phenotype.
DR   MedGen; CN252685.
DR   MeSH; D065886.
//
ID   Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia.
AC   DI-06070
AR   NEDSCAC.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, and poor or absent speech.
DE   More severely affected individuals do not achieve independent
DE   ambulation, whereas others develop some speech and can walk, or show
DE   regression later in childhood. Additional features include axial
DE   hypotonia, peripheral spasticity, dystonia, cataracts, and seizures.
DE   Brain imaging usually shows cerebellar hypoplasia, thin corpus
DE   callosum, cerebral atrophy, and hypomyelination.
DR   MIM; 619286; phenotype.
DR   MedGen; CN296469.
DR   MeSH; D065886.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities.
AC   DI-04528
AR   NEDSPLB.
DE   A severe autosomal recessive disorder characterized by global
DE   developmental delay with impaired intellectual development and poor or
DE   absent speech, axial hypotonia, and peripheral spasticity and
DE   hyperreflexia. Brain imaging shows hypomyelination with decreased
DE   white matter volume, cerebral and cerebellar atrophy, and thin corpus
DE   callosum. Polymicrogyria may be observed in rare cases. Some patients
DE   have a primary immunodeficiency or gastrointestinal disturbances
DE   similar to inflammatory bowel disease.
SY   PMGYCHA.
SY   Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.
DR   MIM; 616531; phenotype.
DR   MedGen; CN232389.
DR   MeSH; D054220.
//
ID   Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities.
AC   DI-06482
AR   NEDSSBA.
DE   An autosomal recessive disorder characterized by developmental delay
DE   apparent in infancy, impaired intellectual development with poor or
DE   absent speech, epilepsy, variable microcephaly, hypotonia, and spastic
DE   cerebral palsy. Brain abnormalities include simplified gyral pattern,
DE   defects of the operculum, and vermian hypoplasia. Death in early
DE   childhood may occur.
DR   MIM; 620001; phenotype.
DR   MedGen; CN315948.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with speech delay and variable ocular anomalies.
AC   DI-06478
AR   NEDSOA.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, speech delay, moderate to severe intellectual deficiency,
DE   behavioral abnormalities such as angry outbursts, facial dysmorphism,
DE   and ophthalmological abnormalities. Brain imaging is usually normal,
DE   but abnormalities of the corpus callosum have been reported.
DR   MIM; 619989; phenotype.
DR   MedGen; CN315940.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with speech impairment and dysmorphic facies.
AC   DI-05944
AR   NEDSID.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, intellectual disability, speech delay, subtle facial
DE   dysmorphism, and behavioral and psychiatric problems.
DR   MIM; 619056; phenotype.
DR   MedGen; CN293373.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with speech impairment and with or without seizures.
AC   DI-06546
AR   NEDSIS.
DE   An autosomal dominant disorder with variable manifestations. Severely
DE   affected individuals have profound global developmental delay,
DE   hypotonia, delayed or absent walking, absent speech, feeding
DE   difficulties, cortical visual impairment, and onset of
DE   hyperexcitability and seizures in the first months or years of life.
DE   Some patients manifest a milder phenotype characterized by mild to
DE   moderate cognitive impairment and mild speech delay, usually without
DE   seizures.
DR   MIM; 620114; phenotype.
DR   MedGen; CN322434.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies.
AC   DI-05658
AR   NEDBAF.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, severe intellectual disability, poor
DE   language, seizures, dysmorphic features, and thin corpus callosum.
DR   MIM; 618577; phenotype.
DR   MedGen; CN262311.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with variable motor and language impairment.
AC   DI-05162
AR   NEDMIAL.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, intellectual disability, speech impairment
DE   and gait abnormalities.
SY   Neurodevelopmental disorder with severe motor impairment and absent language.
DR   MIM; 617804; phenotype.
DR   MedGen; CN703736.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder with visual defects and brain anomalies.
AC   DI-05639
AR   NEDVIBA.
DE   A disorder characterized by global developmental delay, speech delay,
DE   intellectual disability, structural brain abnormalities, and visual
DE   impairments including retinitis pigmentosa and optic atrophy.
DR   MIM; 618547; phenotype.
DR   MedGen; CN262197.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.
AC   DI-05113
AR   NEMMLAS.
DE   An autosomal recessive, mitochondrial disorder with a broad phenotypic
DE   spectrum ranging from severe neonatal lactic acidosis,
DE   encephalomyopathy and early death to an attenuated course with milder
DE   manifestations. Clinical features include delayed psychomotor
DE   development, intellectual disability, hypotonia, dystonia, ataxia, and
DE   spasticity. Severe combined respiratory chain deficiency may be found
DE   in severely affected individuals.
DR   MIM; 617710; phenotype.
DR   MedGen; CN525654.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus.
AC   DI-06287
AR   NEDSTO.
DE   An autosomal recessive disorder characterized by delayed motor
DE   milestones, delayed walking, speech delay, axial hypotonia, and
DE   peripheral spasticity apparent from infancy or early childhood.
DE   Affected individuals often show transient opisthotonic posturing in
DE   infancy, and later show abnormal involuntary movements. Variably
DE   impaired intellectual development, and brain myelination defects are
DE   present in some patients.
DR   MIM; 619653; phenotype.
DR   MedGen; CN305249.
DR   MeSH; D065886.
//
ID   Neurodevelopmental, jaw, eye, and digital syndrome.
AC   DI-05858
AR   NEDJED.
DE   An autosomal dominant syndrome characterized by variable features
DE   including mild-to-severe developmental delay, speech delay, autistic
DE   and/or stereotypical behaviors, ocular anomalies, under- or
DE   overdeveloped jaw, and digital anomalies such as brachydactyly,
DE   clinodactyly, syndactyly, and contractures.
DR   MIM; 618914; phenotype.
DR   MedGen; CN282599.
DR   MeSH; D009140.
DR   MeSH; D065886.
//
ID   Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities.
AC   DI-06224
AR   NECRC.
DE   An autosomal dominant disorder characterized by dysmorphic
DE   craniofacial features, mild developmental delay, mildly impaired
DE   intellectual development or learning difficulties, speech delay, and
DE   behavioral abnormalities. About half of patients have congenital
DE   anomalies of the kidney and urinary tract and/or congenital cardiac
DE   defects, including septal defects.
DR   MIM; 619522; phenotype.
DR   MedGen; CN300451.
DR   MeSH; D006330.
DR   MeSH; D014564.
DR   MeSH; D019465.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurofacioskeletal syndrome with or without renal agenesis.
AC   DI-06053
AR   NFSRA.
DE   An autosomal recessive syndrome characterized by developmental delay
DE   and/or intellectual disability, corpus callosum agenesis or
DE   hypoplasia, flexion contractures, brachydactyly of hands and feet with
DE   broad fingertips and toes, and dysmorphic features such as coarse
DE   face, upslanted palpebral fissures, broad nasal tip and wide mouth.
DE   Some patients manifest unilateral or bilateral renal agenesis.
SY   Neurodevelopmental disorder with corpus callosum agenesis, craniofacial dysmorphism, and skeletal anomalies, with or without renal agenesis.
DR   MIM; 619194; phenotype.
DR   MedGen; CN295290.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Neurofibromatosis 1.
AC   DI-02396
AR   NF1.
DE   A disease characterized by patches of skin pigmentation (cafe-au-lait
DE   spots), Lisch nodules of the iris, tumors in the peripheral nervous
DE   system and fibromatous skin tumors. Individuals with the disorder have
DE   increased susceptibility to the development of benign and malignant
DE   tumors.
SY   Neurofibromatosis peripheral type.
SY   Von Recklinghausen disease.
SY   von Recklinghausen syndrome.
DR   MIM; 162200; phenotype.
DR   MedGen; C0027831.
DR   MeSH; D009456.
//
ID   Neurofibromatosis-Noonan syndrome.
AC   DI-02047
AR   NFNS.
DE   Characterized by manifestations of both NF1 and Noonan syndrome (NS).
DE   NS is a disorder characterized by dysmorphic facial features, short
DE   stature, hypertelorism, cardiac anomalies, deafness, motor delay, and
DE   a bleeding diathesis.
DR   MIM; 601321; phenotype.
DR   MedGen; C2931482.
//
ID   Neurogenic scapuloperoneal syndrome Kaeser type.
AC   DI-02049
AR   Kaeser syndrome.
DE   Autosomal dominant disorder with a peculiar scapuloperoneal
DE   distribution of weakness and atrophy. A large clinical variability is
DE   observed ranging from scapuloperoneal, limb grindle and distal
DE   phenotypes with variable cardiac or respiratory involvement. Facial
DE   weakness, dysphagia and gynaecomastia are frequent additional
DE   symptoms. Affected men seemingly bear a higher risk of sudden, cardiac
DE   death as compared to affected women. Histological and
DE   immunohistochemical examination of muscle biopsy specimens reveal a
DE   wide spectrum of findings ranging from near normal or unspecific
DE   pathology to typical, myofibrillar changes with accumulation of
DE   desmin.
DR   MIM; 181400; phenotype.
DR   MedGen; C1867005.
//
ID   Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.
AC   DI-04353
AR   IMNEPD1.
DE   A progressive multisystem disease characterized by a variety of
DE   neurologic, endocrine, and, in some patients, pancreatic features.
DE   Variable clinical symptoms include global developmental delay,
DE   hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism,
DE   hypothyroidism, and pancreatic insufficiency.
SY   IMNEPD.
DR   MIM; 616263; phenotype.
DR   MedGen; CN228418.
DR   MeSH; D000015.
//
ID   Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2.
AC   DI-06161
AR   IMNEPD2.
DE   An autosomal recessive disorder with variable clinical manifestations
DE   and severity. Main features include cholestatic hepatitis, poor
DE   feeding, poor overall growth, and hypoglycemia apparent from infancy.
DE   Most patients have variable global developmental delay, sensorineural
DE   deafness, retinal abnormalities with visual defects, and hypotonia.
DE   Some patients have endocrine abnormalities. Brain imaging often shows
DE   dysmyelination, thin corpus callosum, cerebral atrophy, and white
DE   matter abnormalities. Death in early childhood may occur.
DR   MIM; 619418; phenotype.
DR   MedGen; CN299634.
DR   MeSH; D000015.
//
ID   Neuromuscular oculoauditory syndrome.
AC   DI-05734
AR   NMOAS.
DE   An autosomal dominant neuromuscular disorder characterized by variable
DE   features including myopathy, neuropathy, hypotonia, joint
DE   contractures, growth delay, chorioretinal lacunae, sensorineuronal
DE   deafness, agenesis of the corpus callosum, and seizures.
SY   Neuromuscular disease and ocular or auditory anomalies with or without seizures.
DR   MIM; 618733; phenotype.
DR   MedGen; CN263124.
DR   MeSH; D009468.
KW   KW-0622:Neuropathy.
//
ID   Neuromyotonia and axonal neuropathy, autosomal recessive.
AC   DI-03603
AR   NMAN.
DE   An autosomal recessive neurologic disorder characterized by onset in
DE   the first or second decade of a peripheral axonal neuropathy
DE   predominantly affecting motor more than sensory nerves. The axonal
DE   neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and
DE   distal hereditary motor neuropathy. Individuals with NMAN also have
DE   delayed muscle relaxation and action myotonia associated with
DE   neuromyotonic discharges on needle EMG resulting from
DE   hyperexcitability of the peripheral nerves.
SY   Gamstorp-Wohlfart syndrome.
SY   Myokymia myotonia and muscle wasting.
DR   MIM; 137200; phenotype.
DR   MedGen; CN074193.
DR   MeSH; D020386.
KW   KW-0622:Neuropathy.
//
ID   Neuronal intranuclear inclusion disease.
AC   DI-05726
AR   NIID.
DE   An autosomal dominant, slowly progressive, neurodegenerative disease
DE   characterized by eosinophilic hyaline intranuclear inclusions in the
DE   central and peripheral nervous system, and also in the visceral
DE   organs. Clinical manifestations are variable and include pyramidal and
DE   extrapyramidal symptoms, cerebellar ataxia, cognitive decline and
DE   dementia, peripheral neuropathy, and autonomic dysfunction.
DR   MIM; 603472; phenotype.
DR   MedGen; C1863843.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 10.
AC   DI-06528
AR   HMND10.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular diseases caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. HMND10 is characterized by length-
DE   dependent motor neuropathy primarily affecting the lower limbs, and
DE   onset of distal muscle weakness and atrophy in early childhood
DE   resulting in walking difficulties and gait abnormalities. Some
DE   affected individuals have pyramidal signs, including hyperreflexia.
DE   More variable features may include mild intellectual disability, minor
DE   gyration defects on brain imaging, foot deformities, and connective
DE   tissue defects.
SY   DHMN10.
SY   HMN10.
SY   Neuronopathy, distal hereditary motor, 10.
SY   Neuronopathy, distal hereditary motor, type X.
SY   Neuropathy, distal hereditary motor, type X.
DR   MIM; 620080; phenotype.
DR   MedGen; C5774234.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 11.
AC   DI-06766
AR   HMND11.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular diseases caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. HMND11 is an autosomal dominant form
DE   with incomplete penetrance, characterized by juvenile or young-adult
DE   onset of distal limb muscle weakness and atrophy mainly affecting the
DE   lower limbs, resulting in gait instability and walking difficulties.
DE   Some affected individuals may have distal upper limb and hand
DE   involvement or mild distal sensory abnormalities, but motor symptoms
DE   dominate the clinical picture.
DR   MIM; 620528; phenotype.
DR   MedGen; CN375538.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 12.
AC   DI-03508
AR   HMND12.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMND12 is
DE   characterized by onset in the first or second decade of distal muscle
DE   weakness and atrophy, primarily affecting the intrinsic hand muscles,
DE   but also affecting the lower legs, resulting in abnormal gait and pes
DE   cavus.
SY   DHMN5B.
SY   DHMN VB.
SY   Distal hereditary motor neuropathy type VB.
SY   DSMAVB.
SY   HMN5B.
SY   HMN VB.
SY   Neuronopathy, distal hereditary motor, 5B.
SY   Spinal muscular atrophy distal type VB.
DR   MIM; 614751; phenotype.
DR   MedGen; C3553656.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 13.
AC   DI-05984
AR   HMND13.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular diseases caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. HMND13 is characterized by distal
DE   muscular atrophy primarily affecting the upper limbs. Lower limb
DE   involvement may occur at the same time or later. Clinical features are
DE   highly variable even within families, and include poor fine hand motor
DE   skills, difficulty walking, foot deformities, spasticity and
DE   hyperreflexia. Some HMND13 patients show axonal peripheral neuropathy
DE   and distal sensory impairment. HMND13 inheritance is autosomal
DE   dominant with incomplete penetrance.
SY   DHMN5C.
SY   Distal hereditary motor neuronopathy type VC.
SY   Distal spinal muscular atrophy type 5C.
SY   DSMA5C.
SY   DSMAVC.
SY   HMN5C.
SY   Neuronopathy, distal hereditary motor, 5C.
SY   Neuronopathy, distal hereditary motor, type VC.
SY   Spinal muscular atrophy, distal, type 5C.
SY   Spinal muscular atrophy, distal, type VC.
DR   MIM; 619112; phenotype.
DR   MedGen; C5436838.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 14.
AC   DI-00404
AR   HMND14.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   dHMN7B.
SY   Distal hereditary motor neuropathy type VIIB.
SY   Distal hereditary motor neuropathy with vocal cord paralysis type VIIB.
SY   HMN7B.
SY   HMN VIIB.
SY   Lower motor neuron disease dynactin type.
SY   Neuronopathy, distal hereditary motor, 7B.
SY   PLMND.
SY   Progressive lower motor neuron disease.
DR   MIM; 607641; phenotype.
DR   MedGen; C1843315.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 2.
AC   DI-00400
AR   HMND2.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   Charcot-Marie-Tooth disease spinal IIA.
SY   dHMN2A.
SY   Distal hereditary motor neuropathy type IIA.
SY   HMN2A.
SY   HMN IIA.
SY   Neuronopathy, distal hereditary motor, 2A.
SY   Spinal muscular atrophy distal adult autosomal dominant IIA.
DR   MIM; 158590; phenotype.
DR   MedGen; C1834692.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 3.
AC   DI-00401
AR   HMND3.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   dHMN2B.
SY   dHMN II.
SY   Distal hereditary motor neuropathy type IIB.
SY   HMN2B.
SY   HMN IIB.
SY   Neuronopathy, distal hereditary motor, 2B.
DR   MIM; 608634; phenotype.
DR   MedGen; C2608087.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 4.
AC   DI-02769
AR   HMND4.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   dHMN2C.
SY   dHMN IIC.
SY   Distal hereditary motor neuropathy type IIC.
SY   HMN2C.
SY   HMN IIC.
SY   Neuronopathy, distal hereditary motor, 2C.
SY   Neuropathy, distal hereditary motor, autosomal dominant 4.
DR   MIM; 613376; phenotype.
DR   MedGen; C3150619.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 5.
AC   DI-00402
AR   HMND5.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   dHMN5.
SY   DHMN5A.
SY   dHMN V.
SY   DHMN VA.
SY   Distal hereditary motor neuronopathy type VA.
SY   Distal hereditary motor neuropathy type V.
SY   Distal hereditary motor neuropathy type VA.
SY   DSMAV.
SY   DSMA-V.
SY   DSMAVA.
SY   HMN5A.
SY   HMN V.
SY   HMN VA.
SY   Neuronopathy, distal hereditary motor, 5A.
SY   Spinal muscular atrophy distal type V.
SY   Spinal muscular atrophy distal type VA.
SY   Spinal muscular atrophy distal with upper limb predominance.
DR   MIM; 600794; phenotype.
DR   MedGen; C1833308.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 6.
AC   DI-03987
AR   HMND6.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   Autosomal dominant spinal muscular atrophy distal calf-predominant.
SY   dHMN2D.
SY   dHMN IID.
SY   Distal hereditary motor neuropathy type IID.
SY   HMN2D.
SY   HMN IID.
SY   Neuronopathy, distal hereditary motor, 2D.
DR   MIM; 615575; phenotype.
DR   MedGen; C3888271.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 7.
AC   DI-03689
AR   HMND7.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMND7 is
DE   characterized by onset in the second decade of progressive distal
DE   muscle wasting and weakness affecting the upper and lower limbs and
DE   resulting in walking difficulties and hand grip. There is significant
DE   muscle atrophy of the hands and lower limbs. The disorder is
DE   associated with vocal cord paresis due to involvement of the tenth
DE   cranial nerve.
SY   dHMN7A.
SY   DHMNVP.
SY   Distal hereditary motor neuronopathy type VIIA.
SY   Distal hereditary motor neuropathy type VIIA.
SY   Distal hereditary motor neuropathy with vocal cord paralysis.
SY   Distal spinal muscular atrophy with vocal cord paralysis.
SY   Harper-Young myopathy.
SY   HMN7A.
SY   HMN VIIA.
SY   Neuronopathy, distal hereditary motor, 7A.
DR   MIM; 158580; phenotype.
DR   MedGen; C1834703.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 8.
AC   DI-02688
AR   HMND8.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   DHMN8.
SY   Distal spinal muscular atrophy, congenital non-progressive.
SY   HMN8.
SY   Neuronopathy, distal hereditary motor, 8.
SY   Neuropathy, distal hereditary motor, type VIII.
SY   Spinal muscular atrophy congenital benign with contractures.
DR   MIM; 600175; phenotype.
DR   MedGen; C1838492.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal dominant 9.
AC   DI-05119
AR   HMND9.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMND9 is
DE   characterized by juvenile onset of slowly progressive distal muscle
DE   weakness and atrophy affecting both the lower and upper limbs.
SY   DHMN9.
SY   HMN9.
SY   Neuronopathy, distal hereditary motor, 9.
SY   Neuronopathy, distal hereditary motor, type IX.
SY   Neuropathy, distal hereditary motor, type IX.
DR   MIM; 617721; phenotype.
DR   MedGen; C4540265.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 1.
AC   DI-00403
AR   HMNR1.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   dHMN6.
SY   dHMN VI.
SY   Diaphragmatic spinal muscular atrophy.
SY   Distal hereditary motor neuropathy type VI.
SY   DSMA1.
SY   HMN6.
SY   HMN VI.
SY   Neuronopathy, distal hereditary motor, 6.
SY   Severe infantile axonal neuronopathy with respiratory failure.
SY   Severe infantile axonal neuropathy with respiratory failure.
SY   SIANRF.
SY   SMARD1.
SY   Spinal muscular atrophy distal autosomal recessive 1.
SY   Spinal muscular atrophy with respiratory distress 1.
DR   MIM; 604320; phenotype.
DR   MedGen; C1858517.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 2.
AC   DI-04545
AR   HMNR2.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMNR2 is
DE   characterized by onset of distal muscle weakness and wasting affecting
DE   the lower and upper limbs in the first decade.
SY   Distal spinal muscular atrophy, autosomal recessive, 2.
SY   DSMA2.
SY   Hereditary motor neuropathy, Jerash type.
SY   HMNJ.
SY   Motor neuropathy, distal, Jerash type.
SY   Neuronopathy, distal hereditary motor, Jerash type.
SY   Neuropathy, distal hereditary motor, Jerash type.
SY   Spinal muscular atrophy, Jerash type.
DR   MIM; 605726; phenotype.
DR   MedGen; C1854023.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 4.
AC   DI-00405
AR   HMNR4.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMNR4 is
DE   characterized by childhood onset, generalized muscle weakness and
DE   atrophy with denervation and normal sensation. Bulbar symptoms and
DE   pyramidal signs are absent.
SY   Distal spinal muscular atrophy, autosomal recessive, 4.
SY   DSMA4.
SY   Neuropathy, distal hereditary motor, autosomal recessive 4.
DR   MIM; 611067; phenotype.
DR   MedGen; C1970211.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 5.
AC   DI-03602
AR   HMNR5.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs. HMNR5 is
DE   characterized by young adult onset of slowly progressive distal muscle
DE   weakness and atrophy resulting in gait impairment and loss of
DE   reflexes.
SY   Distal spinal muscular atrophy, autosomal recessive, 5.
SY   DSMA5.
SY   Neuropathy, distal hereditary motor, autosomal recessive 5.
DR   MIM; 614881; phenotype.
DR   MedGen; C4749918.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 6.
AC   DI-06488
AR   HMNR6.
DE   A form of distal spinal muscular atrophy, a heterogeneous group of
DE   neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The disease starts with weakness and
DE   wasting of distal muscles of the anterior tibial and peroneal
DE   compartments of the legs. Later on, weakness and atrophy may expand to
DE   the proximal muscles of the lower limbs and/or to the distal upper
DE   limbs. HMNR6 is characterized by onset of distal muscle weakness in
DE   early infancy. Affected individuals often present at birth with distal
DE   joint contractures or foot deformities and show delayed motor
DE   development, often with inability to walk or frequent falls. Patients
DE   often show respiratory distress or diaphragmatic palsy.
SY   Distal spinal muscular atrophy, autosomal recessive, 6.
SY   DSMA6.
SY   Neuropathy, distal hereditary motor, autosomal recessive 6.
DR   MIM; 620011; phenotype.
DR   MedGen; C5774201.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 8.
AC   DI-05855
AR   HMNR8.
DE   An autosomal recessive disorder characterized by motor axonal
DE   neuropathy, slowly progressive distal muscle weakness mainly affecting
DE   the lower limbs, difficulty walking, and increased serum sorbitol.
DE   Additional variable features are distal sensory impairment, upper limb
DE   tremor, scoliosis, and mild hearing loss.
SY   SORDD.
DR   MIM; 618912; phenotype.
DR   MedGen; C5394466.
DR   MeSH; D002239.
DR   MeSH; D009468.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, autosomal recessive 9.
AC   DI-06769
AR   HMNR9.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular diseases caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. HMNR9 is a slowly progressive form
DE   characterized by juvenile onset of distal muscle weakness and atrophy
DE   particularly affecting the lower limbs, although most patients also
DE   have upper limb involvement. Additional features include pes cavus,
DE   foot drop, and inability to walk on the heels or tiptoes. Some
DE   patients may have mild sensory abnormalities or pyramidal signs.
SY   Neuropathy, distal hereditary motor, autosomal recessive 9.
DR   MIM; 620402; phenotype.
DR   MedGen; CN375610.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, distal hereditary motor, X-linked.
AC   DI-02799
AR   HMNX.
DE   A form of distal hereditary motor neuronopathy, a heterogeneous group
DE   of neuromuscular disorders caused by selective degeneration of motor
DE   neurons in the anterior horn of the spinal cord, without sensory
DE   deficit in the posterior horn. The overall clinical picture consists
DE   of a classical distal muscular atrophy syndrome in the legs without
DE   clinical sensory loss. The disease starts with weakness and wasting of
DE   distal muscles of the anterior tibial and peroneal compartments of the
DE   legs. Later on, weakness and atrophy may expand to the proximal
DE   muscles of the lower limbs and/or to the distal upper limbs.
SY   Distal spinal muscular atrophy, X-linked, 3.
SY   DSMAX.
SY   Neuropathy, distal hereditary motor, X-linked.
SY   SMAX3.
SY   Spinal muscular atrophy distal X-linked recessive.
DR   MIM; 300489; phenotype.
DR   MedGen; C1845359.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuronopathy, hereditary motor, autosomal recessive 7.
AC   DI-06035
AR   HMNR7.
DE   An autosomal recessive, neuromyopathic disorder that manifests in
DE   childhood or adulthood with proximal and distal muscle weakness
DE   predominantly of the lower limbs. Affected individuals have difficulty
DE   climbing stairs and problems standing on the heels. Most patients have
DE   foot deformities, and some may have leg muscle atrophy. Muscle biopsy
DE   and electrophysiologic studies are consistent with both a myopathic
DE   process and an axonal motor neuropathy.
SY   HMNMYO.
SY   Neuropathy, hereditary motor, autosomal recessive 7.
SY   Neuropathy, hereditary motor, with myopathic features.
DR   MIM; 619216; phenotype.
DR   MedGen; C5543119.
DR   MeSH; D009468.
KW   KW-0622:Neuropathy.
//
ID   Neuroocular syndrome.
AC   DI-06229
AR   NOC.
DE   An autosomal dominant syndrome characterized by developmental delay,
DE   impaired intellectual development, and variable eye abnormalities
DE   including anophthalmia, microphthalmia, and coloboma. Other common
DE   systemic features include congenital heart and kidney defects,
DE   hypotonia, failure to thrive, and microcephaly.
DR   MIM; 619539; phenotype.
DR   MedGen; CN300501.
DR   MeSH; D000013.
DR   MeSH; D005124.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Neurooculocardiogenitourinary syndrome.
AC   DI-05698
AR   NOCGUS.
DE   An autosomal dominant multisystem disorder characterized by
DE   significant neurological impairment with structural brain defects and
DE   seizures, poor feeding, poor postnatal growth, ocular anomalies,
DE   dysmorphic facial features, and variable skeletal, cardiac and
DE   genitourinary defects. Death in infancy may occur.
DR   MIM; 618652; phenotype.
DR   MedGen; CN262657.
DR   MeSH; D000015.
//
ID   Neurooculorenal syndrome.
AC   DI-06637
AR   NORS.
DE   An autosomal recessive syndrome characterized by variable clinical
DE   features including congenital renal anomalies, neurodevelopmental
DE   defects, intellectual impairment, cardiac defects, and ocular
DE   anomalies. Some affected individuals present in utero with renal
DE   agenesis and structural brain abnormalities incompatible with life.
DR   MIM; 620305; phenotype.
DR   MedGen; CN323744.
DR   MeSH; D000013.
KW   KW-0991:Intellectual disability.
//
ID   Neuropathy, ataxia, and retinitis pigmentosa.
AC   DI-02048
AR   NARP.
DE   A syndrome characterized by variable combination of developmental
DE   delay, psychomotor retardation, hearing loss, optic atrophy and
DE   retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic
DE   muscle weakness, and sensory neuropathy.
SY   NARP syndrome.
SY   Neurogenic muscle weakness, ataxia, and retinitis pigmentosa.
DR   MIM; 551500; phenotype.
DR   MedGen; C1328349.
DR   MedGen; C1838914.
DR   MeSH; D012174.
DR   MeSH; D028361.
KW   KW-0622:Neuropathy.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Neuropathy, congenital hypomyelinating, 1, autosomal recessive.
AC   DI-00358
AR   CHN1.
DE   A severe degenerating neuropathy that results from a congenital
DE   impairment in myelin formation. It is clinically characterized by
DE   early onset of hypotonia, areflexia, distal muscle weakness, and very
DE   slow nerve conduction velocities (as low as 3m/s). Some patients
DE   manifest nearly complete absence of spontaneous limb movements,
DE   respiratory distress at birth, and complete absence of myelin shown by
DE   electron microscopy of peripheral nerves.
SY   Charcot-Marie-Tooth disease type 4E.
SY   Charcot-Marie-Tooth neuropathy type 4E.
SY   CMT4E.
SY   Congenital amyelinating neuropathy.
SY   Congenital hypomyelinating neuropathy autosomal recessive.
SY   Neuropathy, congenital hypomyelinating or amyelinating.
SY   Severe congenital hypomyelination.
DR   MIM; 605253; phenotype.
DR   MedGen; C0393818.
DR   MedGen; C3551756.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Neuropathy, congenital hypomyelinating, 2.
AC   DI-05376
AR   CHN2.
DE   A form of congenital hypomyelinating neuropathy, a neurologic disorder
DE   characterized by early-onset hypotonia, areflexia, distal muscle
DE   weakness, and very slow nerve conduction velocities (NCV) resulting
DE   from improper myelination of axons. In its extreme form, it may
DE   present with severe joint contractures or arthrogryposis multiplex
DE   congenita and respiratory insufficiency. In less severe cases patients
DE   may achieve walking. Patients lack both active myelin breakdown and
DE   well-organized onion bulbs on sural nerve biopsies, have absence of
DE   inflammation, and show hypomyelination of most or all fibers. CHN2
DE   inheritance is autosomal dominant.
SY   Hypomyelinating neuropathy, congenital, 2.
DR   MIM; 618184; phenotype.
DR   MedGen; CN257483.
DR   MeSH; D015417.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, congenital hypomyelinating, 3.
AC   DI-05377
AR   CHN3.
DE   A form of congenital hypomyelinating neuropathy, a neurologic disorder
DE   characterized by early-onset hypotonia, areflexia, distal muscle
DE   weakness, and very slow nerve conduction velocities (NCV) resulting
DE   from improper myelination of axons. In its extreme form, it may
DE   present with severe joint contractures or arthrogryposis multiplex
DE   congenita and respiratory insufficiency. In less severe cases patients
DE   may achieve walking. Patients lack both active myelin breakdown and
DE   well-organized onion bulbs on sural nerve biopsies, have absence of
DE   inflammation, and show hypomyelination of most or all fibers. CHN3 is
DE   a severe autosomal recessive form characterized by onset of neurogenic
DE   muscle impairment in utero. Affected individuals have profoundly
DE   impaired psychomotor development and may die in infancy or early
DE   childhood.
DR   MIM; 618186; phenotype.
DR   MedGen; CN257484.
DR   MeSH; D015417.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary motor and sensory, 6A, with optic atrophy.
AC   DI-00292
AR   HMSN6A.
DE   An autosomal dominant neurologic disorder characterized by optic
DE   atrophy and peripheral sensorimotor neuropathy manifesting as axonal
DE   Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder
DE   of the peripheral nervous system, characterized by progressive
DE   weakness and atrophy, initially of the peroneal muscles and later of
DE   the distal muscles of the arms. It is classified in two main groups on
DE   the basis of electrophysiologic properties and histopathology: primary
DE   peripheral demyelinating neuropathies and primary peripheral axonal
DE   neuropathies. Peripheral axonal neuropathies are characterized by
DE   signs of axonal regeneration in the absence of obvious myelin
DE   alterations, and normal or slightly reduced nerve conduction
DE   velocities.
SY   Charcot-Marie-Tooth disease 6.
SY   Charcot-Marie-Tooth disease 6A.
SY   CMT6.
SY   CMT6A.
SY   Hereditary motor and sensory neuropathy type VI.
SY   Hereditary motor and sensory neuropathy type VIA.
SY   HMSN6.
SY   HMSN VI.
SY   HMSN VIA.
SY   Peripheral neuropathy and optic atrophy.
DR   MIM; 601152; phenotype.
DR   MedGen; C0393807.
DR   MeSH; D002607.
DR   MeSH; D015418.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Neuropathy, hereditary motor and sensory, 6B, with optic atrophy.
AC   DI-04538
AR   HMSN6B.
DE   An autosomal recessive neurologic disorder characterized by early-
DE   onset optic atrophy, progressive visual loss, and peripheral
DE   sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth
DE   disease, with variable age at onset and severity. Charcot-Marie-Tooth
DE   disease is a disorder of the peripheral nervous system, characterized
DE   by progressive weakness and atrophy, initially of the peroneal muscles
DE   and later of the distal muscles of the arms. It is classified in two
DE   main groups on the basis of electrophysiologic properties and
DE   histopathology: primary peripheral demyelinating neuropathies and
DE   primary peripheral axonal neuropathies. Peripheral axonal neuropathies
DE   are characterized by signs of axonal regeneration in the absence of
DE   obvious myelin alterations, and normal or slightly reduced nerve
DE   conduction velocities.
SY   Charcot-Marie-Tooth disease 6B.
SY   CMT6B.
SY   Hereditary motor and sensory neuropathy type VIB.
SY   HMSN VIB.
SY   Neuropathy, hereditary motor and sensory, type VIB.
DR   MIM; 616505; phenotype.
DR   MedGen; CN232097.
DR   MeSH; D002607.
DR   MeSH; D015418.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Neuropathy, hereditary motor and sensory, 6C, with optic atrophy.
AC   DI-05619
AR   HMSN6C.
DE   An autosomal recessive neurologic disorder characterized by childhood
DE   onset of axonal, sensorimotor polyneuropathy affecting mainly the
DE   lower limbs, and adult-onset optic atrophy. Clinical features include
DE   progressive distal muscle weakness and atrophy, significant standing
DE   and walking difficulties, areflexia, neurogenic pain and progressive
DE   visual impairment.
SY   Charcot-Marie-Tooth disease 6C.
SY   CMT6C.
SY   Hereditary motor and sensory neuropathy type VIC.
SY   HMSN VIC.
SY   Neuropathy, hereditary motor and sensory, type VIC.
SY   Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy.
DR   MIM; 618511; phenotype.
DR   MedGen; CN260727.
DR   MeSH; D002607.
DR   MeSH; D015418.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Neuropathy, hereditary motor and sensory, Okinawa type.
AC   DI-03525
AR   HMSNO.
DE   A neurodegenerative disorder characterized by young adult onset of
DE   proximal muscle weakness and atrophy, muscle cramps, and
DE   fasciculations, with later onset of distal sensory impairment. The
DE   disorder is slowly progressive and clinically resembles amyotrophic
DE   lateral sclerosis.
SY   Hereditary motor and sensory neuropathy, proximal type.
SY   Hereditary motor and sensory neuropathy Okinawa.
SY   HMSNP.
DR   MIM; 604484; phenotype.
DR   MedGen; C1858338.
DR   MeSH; D015417.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary motor and sensory, Russe type.
AC   DI-03795
AR   HMSNR.
DE   An autosomal recessive progressive complex peripheral neuropathy
DE   characterized by onset in the first decade of distal lower limb
DE   weakness and muscle atrophy resulting in walking difficulties. Distal
DE   impairment of the upper limbs usually occurs later, as does proximal
DE   lower limb weakness. There is distal sensory impairment, with pes
DE   cavus and areflexia. Laboratory studies suggest that it is a
DE   myelinopathy resulting in reduced nerve conduction velocities in the
DE   demyelinating range as well as a length-dependent axonopathy.
SY   Charcot-Marie-Tooth disease autosomal recessive type 4G.
SY   Charcot-Marie-Tooth disease type 4G.
SY   Charcot-Marie-Tooth neuropathy type 4G.
SY   CMT4G.
DR   MIM; 605285; phenotype.
DR   MedGen; C1854449.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Neuropathy, hereditary sensory and autonomic, 1A.
AC   DI-00547
AR   HSAN1A.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   prominent sensory abnormalities with a variable degree of motor and
DE   autonomic dysfunction. The neurological phenotype is often complicated
DE   by severe infections, osteomyelitis, and amputations. HSAN1A is an
DE   autosomal dominant axonal form with onset in the second or third
DE   decades. Initial symptoms are loss of pain, touch, heat, and cold
DE   sensation over the feet, followed by distal muscle wasting and
DE   weakness. Loss of pain sensation leads to chronic skin ulcers and
DE   distal amputations.
SY   Hereditary sensory neuropathy type IA.
SY   Hereditary sensory radicular neuropathy autosomal dominant type 1A.
SY   HSAN1.
SY   HSAN IA.
SY   HSN1.
SY   HSN IA.
DR   MIM; 162400; phenotype.
DR   MedGen; C0020071.
DR   MedGen; C3149656.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 1C.
AC   DI-02943
AR   HSAN1C.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   prominent sensory abnormalities with a variable degree of motor and
DE   autonomic dysfunction. The neurological phenotype is often complicated
DE   by severe infections, osteomyelitis, and amputations. HSAN1C symptoms
DE   include loss of touch and vibration in the feet, dysesthesia and
DE   severe panmodal sensory loss in the upper and lower limbs, distal
DE   lower limb sensory loss with ulceration and osteomyelitis, and distal
DE   muscle weakness.
SY   Hereditary sensory neuropathy type IC.
SY   HSAN IC.
SY   HSN1C.
SY   HSN IC.
DR   MIM; 613640; phenotype.
DR   MedGen; C3150896.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 2A.
AC   DI-00548
AR   HSAN2A.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN2A is an autosomal
DE   recessive disorder characterized by impairment of pain, temperature
DE   and touch sensation, onset of symptoms in infancy or early childhood,
DE   occurrence of distal extremity pathologies (paronychia, whitlows,
DE   ulcers, and Charcot joints), frequent amputations, sensory loss that
DE   affects all modalities of sensation (lower and upper limbs and perhaps
DE   the trunk as well), absence or diminution of tendon reflexes (usually
DE   in all limbs), minimal autonomic dysfunction, absence of sensory nerve
DE   action potentials, and virtual absence of myelinated fibers with
DE   decreased numbers of unmyelinated fibers in sural nerves.
SY   Acroosteolysis Giaccai type.
SY   Congenital sensory neuropathy.
SY   Hereditary sensory and autonomic neuropathy type IIA.
SY   Hereditary sensory neuropathy type IIA.
SY   Hereditary sensory radicular neuropathy autosomal recessive.
SY   HSAN IIA.
SY   HSN2A.
SY   HSN IIA.
SY   Morvan disease.
SY   Neurogenic acroosteolysis.
SY   Progressive sensory neuropathy of children.
DR   MIM; 201300; phenotype.
DR   MedGen; C0020072.
DR   MedGen; C0699739.
DR   MedGen; C0751540.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 2B.
AC   DI-02529
AR   HSAN2B.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN2B is an autosomal
DE   recessive disorder characterized by impairment of pain, temperature
DE   and touch sensation. Onset occurs in the first or second decade, with
DE   impaired nociception and progressive mutilating ulceration of the
DE   hands and feet with osteomyelitis and acroosteolysis. Amputations of
DE   the hands and feet are common. Autonomic dysfunction includes
DE   hyperhidrosis, urinary incontinence, and slow pupillary light
DE   response.
SY   Hereditary sensory and autonomic neuropathy type IIB.
DR   MIM; 613115; phenotype.
DR   MedGen; C2751092.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 3.
AC   DI-01566
AR   HSAN3.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN3 patients manifest a
DE   variety of symptoms such as alacrima, decreased taste, decreased
DE   sensitivity to pain and temperature, vasomotor instability, hypoactive
DE   or absent deep tendon reflexes, vomiting crises, and gastrointestinal
DE   dysfunction.
SY   Familial dysautonomia.
SY   FD.
SY   Hereditary sensory and autonomic neuropathy type III.
SY   HSAN III.
SY   HSN III.
SY   Riley-Day syndrome.
DR   MIM; 223900; phenotype.
DR   MedGen; C0013364.
DR   MeSH; D004402.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 5.
AC   DI-00549
AR   HSAN5.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN5 patients manifest loss
DE   of pain perception and impaired temperature sensitivity, ulcers, and
DE   in some cases self-mutilation. The autonomic involvement is variable.
SY   Congenital insensitivity to pain.
SY   Hereditary sensory neuropathy type V.
SY   HSAN V.
SY   HSN V.
DR   MIM; 608654; phenotype.
DR   MedGen; C0020075.
DR   MeSH; D000699.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 6.
AC   DI-03461
AR   HSAN6.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal
DE   recessive disorder characterized by neonatal hypotonia, respiratory
DE   and feeding difficulties, lack of psychomotor development, and
DE   autonomic abnormalities including labile cardiovascular function, lack
DE   of corneal reflexes leading to corneal scarring, areflexia, and absent
DE   axonal flare response after intradermal histamine injection.
SY   Hereditary sensory neuropathy type VI.
SY   HSAN VI.
SY   HSN VI.
DR   MIM; 614653; phenotype.
DR   MedGen; C3539003.
DR   MedGen; CN125065.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 7.
AC   DI-03988
AR   HSAN7.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN7 is characterized by
DE   congenital inability to experience pain resulting in self-mutilations,
DE   slow-healing wounds, and multiple painless fractures. mild muscle
DE   weakness, delayed motor development, slightly reduced motor and
DE   sensory nerve conduction velocities, hyperhidrosis and
DE   gastrointestinal dysfunction.
SY   Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis.
SY   Hereditary sensory and autonomic neuropathy type VII.
SY   HSAN VII.
DR   MIM; 615548; phenotype.
DR   MedGen; C3809882.
DR   MedGen; CN182245.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 8.
AC   DI-04493
AR   HSAN8.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN8 patients manifest
DE   congenital insensitivity to pain resulting in ulceration to the
DE   fingers, tongue, lips, and other distal appendages. Some patients may
DE   also have decreased sweating and tear production.
SY   Hereditary sensory and autonomic neuropathy type VIII.
SY   HSAN VIII.
DR   MIM; 616488; phenotype.
DR   MedGen; CN231731.
DR   MeSH; D009477.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory and autonomic, 9, with developmental delay.
AC   DI-03681
AR   HSAN9.
DE   A form of hereditary sensory and autonomic neuropathy, a genetically
DE   and clinically heterogeneous group of disorders characterized by
DE   degeneration of dorsal root and autonomic ganglion cells, and by
DE   sensory and/or autonomic abnormalities. HSAN9 is characterized by
DE   global developmental delay and intellectual disability, axial and
DE   appendicular hypotonia, dysarthria, and an abnormal gait that is often
DE   described as ataxic. Other features may include peripheral neuropathy,
DE   hyporeflexia, and autonomic dysfunction. Affected individuals also
DE   have dysmorphic features, thin corpus callosum on brain imaging, and
DE   episodes of central apnea, which may be fatal.
SY   Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay.
SY   Spastic paraplegia 49, autosomal recessive.
SY   SPG49.
DR   MIM; 615031; phenotype.
DR   MedGen; C3542549.
DR   MedGen; CN164591.
DR   MeSH; D015419.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory, 1D.
AC   DI-03056
AR   HSN1D.
DE   A disease characterized by adult-onset distal axonal sensory
DE   neuropathy leading to mutilating ulcerations as well as hyporeflexia.
DE   Some patients may show features suggesting upper neuron involvement.
SY   Hereditary sensory neuropathy type ID.
DR   MIM; 613708; phenotype.
DR   MedGen; C3150972.
DR   MeSH; D009477.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory, 1E.
AC   DI-03189
AR   HSN1E.
DE   A neurodegenerative disorder characterized by adult onset of
DE   progressive peripheral sensory loss associated with progressive
DE   hearing impairment and early-onset dementia.
SY   Hereditary sensory neuropathy type IE.
SY   HSN IE.
SY   Neuropathy hereditary sensory with hearing loss and dementia.
DR   MIM; 614116; phenotype.
DR   MedGen; C3279885.
DR   MeSH; D009477.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory, 1F.
AC   DI-04037
AR   HSN1F.
DE   An autosomal dominant sensory neuropathy affecting the lower limbs.
DE   Distal sensory impairment becomes apparent during the second or third
DE   decade of life, resulting in painless ulceration of the feet with poor
DE   healing, which can progress to osteomyelitis, bone destruction, and
DE   amputation. There is no autonomic involvement, spasticity, or
DE   cognitive impairment.
SY   Hereditary sensory neuropathy type IF.
SY   HSN IF.
DR   MIM; 615632; phenotype.
DR   MedGen; C3810194.
DR   MedGen; CN184543.
DR   MeSH; D009477.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory, 2C.
AC   DI-03263
AR   HSN2C.
DE   A neurodegenerative disorder characterized by onset in the first
DE   decade of progressive distal sensory loss leading to ulceration and
DE   amputation of the fingers and toes. Affected individuals also develop
DE   distal muscle weakness, primarily affecting the lower limbs.
SY   Hereditary sensory neuropathy type IIC.
SY   HSN IICE.
DR   MIM; 614213; phenotype.
DR   MedGen; C3280168.
DR   MeSH; D009477.
KW   KW-0622:Neuropathy.
//
ID   Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.
AC   DI-01256
AR   HSNSP.
DE   A disease characterized by spastic paraplegia and progressive distal
DE   sensory neuropathy leading to mutilating ulcerations of the upper and
DE   lower limbs.
DR   MIM; 256840; phenotype.
DR   MedGen; C1850395.
DR   MeSH; D015419.
KW   KW-0622:Neuropathy.
//
ID   Neutral lipid storage disease with myopathy.
AC   DI-02050
AR   NLSDM.
DE   Neutral lipid storage disorder (NLSD) with myopathy but without
DE   ichthyosis. NLSDs are characterized by the presence of triglyceride-
DE   containing cytoplasmic droplets in leukocytes and in other tissues,
DE   including bone marrow, skin, and muscle. Individuals with NLSDM did
DE   not show obesity, in spite of a defect in triglyceride degradation in
DE   fibroblasts and in marked triglyceride storage in liver, muscles, and
DE   other visceral cells.
SY   Neutral lipid storage disease without ichthyosis.
DR   MIM; 610717; phenotype.
DR   MedGen; C1853136.
//
ID   Neutropenia, severe congenital 1, autosomal dominant.
AC   DI-01225
AR   SCN1.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections.
DR   MIM; 202700; phenotype.
DR   MedGen; C1859966.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 2, autosomal dominant.
AC   DI-01226
AR   SCN2.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections.
DR   MIM; 613107; phenotype.
DR   MedGen; C2751288.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 3, autosomal recessive.
AC   DI-01257
AR   SCN3.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections. Some patients affected by severe
DE   congenital neutropenia type 3 have neurological manifestations such as
DE   psychomotor retardation and seizures.
SY   Agranulocytosis infantile.
SY   Kostmann disease.
DR   MIM; 610738; phenotype.
DR   MedGen; C1853118.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 4, autosomal recessive.
AC   DI-01258
AR   SCN4.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections.
DR   MIM; 612541; phenotype.
DR   MedGen; C2675526.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 5, autosomal recessive.
AC   DI-03813
AR   SCN5.
DE   An autosomal recessive primary immunodeficiency disorder characterized
DE   primarily by neutropenia and neutrophil dysfunction, a lack of
DE   response to G-CSF, life-threatening infections, bone marrow fibrosis,
DE   and renal extramedullary hematopoiesis.
DR   MIM; 615285; phenotype.
DR   MedGen; C3809031.
DR   MedGen; CN177969.
DR   MeSH; D007153.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 6, autosomal recessive.
AC   DI-04232
AR   SCN6.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections.
DR   MIM; 616022; phenotype.
DR   MedGen; CN219643.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 7, autosomal recessive.
AC   DI-04754
AR   SCN7.
DE   A form of severe congenital neutropenia, a disorder of hematopoiesis
DE   characterized by maturation arrest of granulopoiesis at the level of
DE   promyelocytes with peripheral blood absolute neutrophil counts below
DE   0.5 x 10(9)/l and early onset of severe bacterial infections.
DR   MIM; 617014; phenotype.
DR   MedGen; CN237114.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 8, autosomal dominant.
AC   DI-05750
AR   SCN8.
DE   A form of severe congenital neutropenia, a disorder of hematopoiesis
DE   characterized by maturation arrest of granulopoiesis at the level of
DE   promyelocytes with peripheral blood absolute neutrophil counts below
DE   0.5 x 10(9)/l and early onset of severe bacterial infections.
DR   MIM; 618752; phenotype.
DR   MedGen; CN263232.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital 9, autosomal dominant.
AC   DI-06386
AR   SCN9.
DE   A form of severe congenital neutropenia, a disorder of hematopoiesis
DE   characterized by maturation arrest of granulopoiesis at the level of
DE   promyelocytes with peripheral blood absolute neutrophil counts below
DE   0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is
DE   characterized by onset of neutropenia in the first years of life. Rare
DE   patients may exhibit additional features such as seizures, learning
DE   difficulties, or cataracts. Patients with SCN9 do not have 3-
DE   methylglutaconic aciduria.
DR   MIM; 619813; phenotype.
DR   MedGen; CN308094.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital, 10, autosomal recessive.
AC   DI-06772
AR   SCN10.
DE   A form of severe congenital neutropenia, a disorder of hematopoiesis
DE   characterized by maturation arrest of granulopoiesis at the level of
DE   promyelocytes with peripheral blood absolute neutrophil counts below
DE   0.5 x 10(9)/l, and early onset of severe bacterial infections. SCN10
DE   is characterized by infantile onset of neutropenia. Anemia and
DE   thrombocytopenia may be transiently present.
DR   MIM; 620534; phenotype.
DR   MedGen; CN375555.
DR   MeSH; D009503.
//
ID   Neutropenia, severe congenital, X-linked.
AC   DI-02457
AR   XLN.
DE   A disorder of hematopoiesis characterized by maturation arrest of
DE   granulopoiesis at the level of promyelocytes with peripheral blood
DE   absolute neutrophil counts below 0.5 x 10(9)/l and early onset of
DE   severe bacterial infections.
DR   MIM; 300299; phenotype.
DR   MedGen; C1845987.
DR   MeSH; D009503.
//
ID   Nevus comedonicus.
AC   DI-04767
AR   NC.
DE   A rare type of epidermal nevus characterized by closely arranged,
DE   dilated, plugged follicular ostia in a honeycomb pattern. The plugged
DE   ostia contain lamellated keratinaceous material, and their appearance
DE   resembles black dots. NC may be non-pyogenic with an acne-like
DE   appearance or associated with the formation of cysts, papules,
DE   pustules, and abscesses. Most commonly it affects the face and neck
DE   area and, by exception, other anatomical regions, including genital
DE   area, palms, and soles. NC lesions might present with various patterns
DE   of distribution: unilateral, bilateral, linear, interrupted,
DE   segmental, or blaschkoid.
DR   MIM; 617025; phenotype.
DR   MedGen; C0265987.
DR   MeSH; D009506.
//
ID   Nevus spilus.
AC   DI-04451
AR   NEVUSPI.
DE   A congenital hyperpigmented patch, which progressively evolves,
DE   developing dark macules and papules during childhood and adolescence.
DE   Over time, nevus spilus may give rise to common lentigines,
DE   melanocytic nevi, Spitz nevi, and melanoma.
SY   Nevoid lentigo.
SY   Speckled lentiginous nevus.
DR   MIM; 137550; phenotype.
DR   MedGen; C0346099.
DR   MeSH; D007911.
DR   MeSH; D009508.
//
ID   Nicolaides-Baraitser syndrome.
AC   DI-03463
AR   NCBRS.
DE   A rare disorder characterized by severe intellectual disability with
DE   absent or limited speech, seizures, short stature, sparse hair,
DE   typical facial characteristics, brachydactyly, prominent finger joints
DE   and broad distal phalanges. Some of the features are progressive with
DE   time.
SY   NBS.
SY   Sparse hair and intellectual development syndrome.
DR   MIM; 601358; phenotype.
DR   MedGen; C1303073.
DR   MeSH; D007039.
DR   MeSH; D008607.
DR   MeSH; D019066.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Niemann-Pick disease A.
AC   DI-02053
AR   NPDA.
DE   An early-onset lysosomal storage disorder caused by failure to
DE   hydrolyze sphingomyelin to ceramide. It results in the accumulation of
DE   sphingomyelin and other metabolically related lipids in
DE   reticuloendothelial and other cell types throughout the body, leading
DE   to cell death. Niemann-Pick disease type A is a primarily
DE   neurodegenerative disorder characterized by onset within the first
DE   year of life, intellectual disability, digestive disorders, failure to
DE   thrive, major hepatosplenomegaly, and severe neurologic symptoms. The
DE   severe neurological disorders and pulmonary infections lead to an
DE   early death, often around the age of four. Clinical features are
DE   variable. A phenotypic continuum exists between type A (basic
DE   neurovisceral) and type B (purely visceral) forms of Niemann-Pick
DE   disease, and the intermediate types encompass a cluster of variants
DE   combining clinical features of both types A and B.
SY   Classical Niemann-Pick disease.
SY   Niemann-Pick disease acute neuronopathic form.
SY   Niemann-Pick disease acute neurovisceral form.
SY   Niemann-Pick disease classical infantile form.
SY   Niemann-Pick disease intermediate protracted neurovisceral.
SY   Niemann-Pick disease neuronopathic type.
SY   Niemann-Pick disease type I.
SY   NPA.
SY   Sphingomyelinase deficiency.
SY   Sphingomyelin lipidosis.
DR   MIM; 257200; phenotype.
DR   MedGen; C0268242.
DR   MedGen; C2675646.
DR   MeSH; D052536.
KW   KW-1054:Niemann-Pick disease.
//
ID   Niemann-Pick disease B.
AC   DI-02054
AR   NPDB.
DE   A late-onset lysosomal storage disorder caused by failure to hydrolyze
DE   sphingomyelin to ceramide. It results in the accumulation of
DE   sphingomyelin and other metabolically related lipids in
DE   reticuloendothelial and other cell types throughout the body, leading
DE   to cell death. Clinical signs involve only visceral organs. The most
DE   constant sign is hepatosplenomegaly which can be associated with
DE   pulmonary symptoms. Patients remain free of neurologic manifestations.
DE   However, a phenotypic continuum exists between type A (basic
DE   neurovisceral) and type B (purely visceral) forms of Niemann-Pick
DE   disease, and the intermediate types encompass a cluster of variants
DE   combining clinical features of both types A and B. In Niemann-Pick
DE   disease type B, onset of the first symptoms occurs in early childhood
DE   and patients can survive into adulthood.
SY   Niemann-Pick disease adult non-neuronopathic form.
SY   Niemann-Pick disease intermediate with visceral involvement and rapid progression.
SY   Niemann-Pick disease type E.
SY   Niemann-Pick disease type F.
SY   Niemann-Pick disease type I.
SY   Niemann-Pick disease visceral form.
SY   NPB.
SY   Sphingomyelinase deficiency.
SY   Sphingomyelin lipidosis.
DR   MIM; 607616; phenotype.
DR   MedGen; C0268243.
DR   MedGen; C0268248.
DR   MedGen; C1843418.
DR   MedGen; C2675644.
DR   MeSH; D052537.
KW   KW-1054:Niemann-Pick disease.
//
ID   Niemann-Pick disease C1.
AC   DI-02055
AR   NPC1.
DE   A lysosomal storage disorder that affects the viscera and the central
DE   nervous system. It is due to defective intracellular processing and
DE   transport of low-density lipoprotein derived cholesterol. It causes
DE   accumulation of cholesterol in lysosomes, with delayed induction of
DE   cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a
DE   highly variable clinical phenotype. Clinical features include variable
DE   hepatosplenomegaly and severe progressive neurological dysfunction
DE   such as ataxia, dystonia and dementia. The age of onset can vary from
DE   infancy to late adulthood. An allelic variant of Niemann-Pick disease
DE   type C1 is found in people with Nova Scotia ancestry. Patients with
DE   the Nova Scotian clinical variant are less severely affected.
SY   Neurovisceral storage disease with vertical supranuclear ophthalmoplegia.
SY   Niemann-Pick disease chronic neuronopathic form.
SY   Niemann-Pick disease Nova Scotian type.
SY   Niemann-Pick disease subacute juvenile form.
SY   Niemann-Pick disease type D.
SY   Niemann-Pick disease type II.
SY   Niemann-Pick disease with cholesterol esterification block.
SY   Niemann-Pick disease without sphingomyelinase deficiency.
SY   NPC.
DR   MIM; 257220; phenotype.
DR   MedGen; C0220756.
DR   MedGen; C0268247.
DR   MedGen; C1850363.
DR   MedGen; C3179455.
DR   MedGen; CN068592.
DR   MedGen; CN068593.
DR   MeSH; D052556.
KW   KW-1054:Niemann-Pick disease.
//
ID   Niemann-Pick disease C2.
AC   DI-02056
AR   NPC2.
DE   A lysosomal storage disorder that affects the viscera and the central
DE   nervous system. It is due to defective intracellular processing and
DE   transport of low-density lipoprotein derived cholesterol. It causes
DE   accumulation of cholesterol in lysosomes, with delayed induction of
DE   cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a
DE   highly variable clinical phenotype. Clinical features include variable
DE   hepatosplenomegaly and severe progressive neurological dysfunction
DE   such as ataxia, dystonia and dementia. The age of onset can vary from
DE   infancy to late adulthood.
DR   MIM; 607625; phenotype.
DR   MedGen; C1843366.
DR   MeSH; D052556.
KW   KW-1054:Niemann-Pick disease.
//
ID   Night blindness, congenital stationary, 1A.
AC   DI-00375
AR   CSNB1A.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision. Congenital stationary night blindness type 1A is characterized
DE   by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced
DE   visual acuity.
SY   Complete X-linked CSNB.
SY   Congenital stationary night blindness with myopia.
SY   Hemeralopia-myopia.
SY   Nyctalopia.
SY   XLCSNB.
SY   X-linked congenital stationary night blindness.
DR   MIM; 310500; phenotype.
DR   MedGen; C1839601.
DR   MedGen; C3495587.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1B.
AC   DI-00377
AR   CSNB1B.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision. Congenital stationary night blindness type 1B is an autosomal
DE   recessive form associated with a negative electroretinogram waveform.
DE   Patients are night blind from an early age, and when maximally dark-
DE   adapted, they could perceive lights only with an intensity equal to or
DE   slightly dimmer than that normally detected by the cone system. ERGs
DE   in response to single brief flashes of light have clearly detectable
DE   a-waves, which are derived from photoreceptors, and greatly reduced b-
DE   waves, which are derived from the second-order inner retinal neurons.
DE   ERGs in response to sawtooth flickering light indicate a markedly
DE   reduced on response and a nearly normal OFF response. There is no
DE   subjective delay in the perception of suddenly appearing white vs
DE   black objects on a gray background.
SY   Complete autosomal recessive CSNB.
SY   Complete congenital stationary night blindness autosomal recessive.
DR   MIM; 257270; phenotype.
DR   MedGen; C1850362.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1C.
AC   DI-02588
AR   CSNB1C.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Complete autosomal recessive CSNB.
DR   MIM; 613216; phenotype.
DR   MedGen; C2750747.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1D.
AC   DI-03077
AR   CSNB1D.
DE   An autosomal recessive form of congenital stationary night blindness,
DE   a non-progressive retinal disorder characterized by impaired night
DE   vision. CSNB1D is characterized by a Riggs type of electroretinogram
DE   (proportionally reduced a- and b-waves). Patients have visual acuity
DE   within the normal range and no symptoms of myopia and/or nystagmus.
SY   Complete autosomal recessive CSNB.
DR   MIM; 613830; phenotype.
DR   MedGen; C3151193.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1E.
AC   DI-03426
AR   CSNB1E.
DE   An autosomal recessive, non-progressive retinal disorder characterized
DE   by impaired night vision, absence of the electroretinogram (ERG) b-
DE   wave, and variable degrees of involvement of other visual functions.
DE   Affected individuals have an ERG waveform that lacks the b-wave
DE   because of failure to transmit the photoreceptor signal through the
DE   retinal depolarizing bipolar cells.
SY   Complete autosomal recessive CSNB.
DR   MIM; 614565; phenotype.
DR   MedGen; C3281215.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1F.
AC   DI-03687
AR   CSNB1F.
DE   An autosomal recessive form of congenital stationary night blindness,
DE   a non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Complete autosomal recessive CSNB.
SY   Complete congenital stationary night blindness 1F autosomal recessive.
DR   MIM; 615058; phenotype.
DR   MedGen; C3554399.
DR   MedGen; CN165239.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1G.
AC   DI-04432
AR   CSNB1G.
DE   An autosomal recessive form of congenital stationary night blindness,
DE   a non-progressive retinal disorder characterized by impaired night
DE   vision or in dim light, with good vision only on bright days.
DR   MIM; 616389; phenotype.
DR   MedGen; CN230732.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1H.
AC   DI-04757
AR   CSNB1H.
DE   A form of congenital stationary night blindness, a non-progressive
DE   retinal disorder characterized by impaired night vision or in dim
DE   light, with good vision only on bright days. CSNB1H patients present
DE   with childhood-onset night blindness and middle age-onset photophobia,
DE   but have near-normal vision and do not exhibit nystagmus or high
DE   myopia. CSNB1H inheritance is autosomal recessive.
DR   MIM; 617024; phenotype.
DR   MedGen; CN237389.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 1I.
AC   DI-05643
AR   CSNB1I.
DE   A form of congenital stationary night blindness, a non-progressive
DE   retinal disorder characterized by impaired night vision or in dim
DE   light, with good vision only on bright days. CSNB1I patients present
DE   with night blindness from infancy or early childhood. Visual acuity is
DE   preserved, but some patients have color vision and/or visual field
DE   defects. Progression to mild retinitis pigmentosa may occur. CSNB1I
DE   inheritance is autosomal recessive.
DR   MIM; 618555; phenotype.
DR   MedGen; CN262223.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, 2A.
AC   DI-00376
AR   CSNB2A.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Congenital stationary night blindness type 2.
SY   Incomplete X-linked CSNB.
DR   MIM; 300071; phenotype.
DR   MedGen; C1848172.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, autosomal dominant 1.
AC   DI-00371
AR   CSNBAD1.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Rhodopsin-related congenital stationary night blindness.
DR   MIM; 610445; phenotype.
DR   MedGen; C1864869.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, autosomal dominant 2.
AC   DI-00372
AR   CSNBAD2.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Congenital stationary night blindness Rambusch type.
SY   Hemeralopia.
SY   Hemeralopia congenital essential.
DR   MIM; 163500; phenotype.
DR   MedGen; C1876182.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, autosomal dominant 3.
AC   DI-00373
AR   CSNBAD3.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia.
SY   Congenital stationary night blindness Nougaret type.
SY   Hemeralopia congenital essential.
DR   MIM; 610444; phenotype.
DR   MedGen; C1864870.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, Oguchi type 1.
AC   DI-00374
AR   CSNBO1.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia. Congenital
DE   stationary night blindness Oguchi type is an autosomal recessive form
DE   associated with fundus discoloration and abnormally slow dark
DE   adaptation.
SY   Oguchi disease 1.
SY   Oguchi disease-1.
DR   MIM; 258100; phenotype.
DR   MedGen; C1306122.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Night blindness, congenital stationary, Oguchi type 2.
AC   DI-02770
AR   CSNBO2.
DE   A non-progressive retinal disorder characterized by impaired night
DE   vision, often associated with nystagmus and myopia. Congenital
DE   stationary night blindness Oguchi type is associated with fundus
DE   discoloration and abnormally slow dark adaptation.
SY   Oguchi disease 2.
SY   Oguchi disease-2.
DR   MIM; 613411; phenotype.
DR   MedGen; C3150678.
DR   MeSH; D009755.
KW   KW-1014:Congenital stationary night blindness.
//
ID   Nijmegen breakage syndrome.
AC   DI-02058
AR   NBS.
DE   A disorder characterized by chromosomal instability, radiation
DE   sensitivity, microcephaly, growth retardation, immunodeficiency and
DE   predisposition to cancer, particularly to lymphoid malignancies.
DR   MIM; 251260; phenotype.
DR   MedGen; C0398791.
DR   MedGen; C1855057.
DR   MedGen; C2930831.
DR   MeSH; D049932.
//
ID   Nijmegen breakage syndrome-like disorder.
AC   DI-02806
AR   NBSLD.
DE   A disorder similar to Nijmegen breakage syndrome and characterized by
DE   chromosomal instability, radiation sensitivity, microcephaly, growth
DE   retardation, short stature and bird-like face. Immunodeficiency is
DE   absent.
SY   Microcephaly and spontaneous chromosome instability without immunodeficiency.
SY   NBS-like disorder.
SY   RAD50 deficiency.
DR   MIM; 613078; phenotype.
DR   MedGen; C2751318.
DR   MeSH; D049914.
//
ID   Nivelon-Nivelon-Mabille syndrome.
AC   DI-05999
AR   NNMS.
DE   An autosomal recessive syndrome characterized by progressive
DE   microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia.
DE   Additional variable features include early infantile-onset seizures,
DE   intrauterine and postnatal growth retardation, generalized
DE   chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be
DE   present.
SY   Chondrodysplasia-pseudohermaphroditism syndrome.
DR   MIM; 600092; phenotype.
DR   MedGen; C1838654.
DR   MeSH; D010009.
DR   MeSH; D058490.
KW   KW-0242:Dwarfism.
//
ID   Nizon-Isidor syndrome.
AC   DI-05831
AR   NIZIDS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   intellectual disability, global developmental delay, speech
DE   impairment, and behavioral abnormalities including autism spectrum
DE   disorder and aggressive behavior. Other features include a thin corpus
DE   callosum, and mild facial dysmorphism. Disease onset is in infancy or
DE   early childhood.
DR   MIM; 618872; phenotype.
DR   MedGen; CN280885.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Non-alcoholic fatty liver disease 1.
AC   DI-02071
AR   NAFLD1.
DE   A condition characterized by accumulation of triglycerides in the
DE   liver. It is associated with adverse metabolic consequences, including
DE   insulin resistance and dyslipidemia. In a subset of individuals,
DE   hepatic steatosis promotes an inflammatory response in the liver,
DE   referred to as steatohepatitis, which can progress to cirrhosis and
DE   liver cancer. NAFLD is the most common form of liver disease in
DE   Western countries.
SY   Hepatic steatosis.
DR   MIM; 613282; phenotype.
DR   MedGen; C2750440.
DR   MedGen; C2750441.
DR   MeSH; D005234.
//
ID   Non-arteritic anterior ischemic optic neuropathy.
AC   DI-02713
AR   NAION.
DE   An ocular disease due to ischemic injury to the optic nerve. It
DE   usually affects the optic disk and leads to visual loss and optic disk
DE   swelling of a pallid nature. Visual loss is usually sudden, or over a
DE   few days at most and is usually permanent, with some recovery possibly
DE   occurring within the first weeks or months. Patients with small disks
DE   having smaller or non-existent cups have an anatomical predisposition
DE   for non-arteritic anterior ischemic optic neuropathy. As an ischemic
DE   episode evolves, the swelling compromises circulation, with a spiral
DE   of ischemia resulting in further neuronal damage.
SY   AION.
SY   Anterior ischemic optic neuropathy.
DR   MIM; 258660; phenotype.
DR   MedGen; C1847711.
DR   MeSH; D018917.
//
ID   Non-ketotic hyperglycinemia.
AC   DI-02061
AR   NKH.
DE   Autosomal recessive disease characterized by accumulation of a large
DE   amount of glycine in body fluid and by severe neurological symptoms.
SY   GCE.
SY   Glycine encephalopathy.
DR   MIM; 605899; phenotype.
DR   MedGen; C0268560.
DR   MedGen; C0751748.
//
ID   Non-phenylketonuria hyperphenylalaninemia.
AC   DI-02063
AR   Non-PKU HPA.
DE   Mild form of phenylalanine hydroxylase deficiency characterized by
DE   phenylalanine levels persistently below 600 mumol, which allows normal
DE   intellectual and behavioral development without treatment. Non-PKU HPA
DE   is usually caused by the combined effect of a mild
DE   hyperphenylalaninemia mutation and a severe one.
DR   MIM; 261600; phenotype.
DR   MedGen; C2678416.
//
ID   Non-syndromic orofacial cleft 10.
AC   DI-02972
AR   OFC10.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   Non-syndromic cleft lip/palate 10.
SY   Non-syndromic cleft lip with or without cleft palate 10.
SY   Orofacial cleft 10.
DR   MIM; 613705; phenotype.
DR   MedGen; C1866070.
DR   MeSH; D002971.
//
ID   Non-syndromic orofacial cleft 11.
AC   DI-00830
AR   OFC11.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   CHCL.
SY   Cleft lip congenital healed.
SY   Congenital healed cleft lip.
SY   Non-syndromic cleft lip/palate 11.
SY   Non-syndromic cleft lip with or without cleft palate 11.
SY   Orofacial cleft 11.
DR   MIM; 600625; phenotype.
DR   MedGen; C1833563.
DR   MedGen; C2677434.
DR   MeSH; D002971.
//
ID   Non-syndromic orofacial cleft 15.
AC   DI-04616
AR   OFC15.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
DE   OFC15 inheritance is autosomal dominant.
DR   MIM; 616788; phenotype.
DR   MedGen; CN235104.
DR   MeSH; D002971.
//
ID   Non-syndromic orofacial cleft 5.
AC   DI-00826
AR   OFC5.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   Non-syndromic cleft lip/palate 5.
SY   Non-syndromic cleft lip with or without cleft palate 5.
SY   Orofacial cleft 5.
DR   MIM; 608874; phenotype.
DR   MedGen; C1837210.
DR   MeSH; D002971.
//
ID   Non-syndromic orofacial cleft 6.
AC   DI-00827
AR   OFC6.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   Non-syndromic cleft lip/palate 6.
SY   Non-syndromic cleft lip with or without cleft palate 6.
SY   Orofacial cleft 6.
DR   MIM; 608864; phenotype.
DR   MedGen; C1837213.
DR   MeSH; D002971.
//
ID   Non-syndromic orofacial cleft 7.
AC   DI-00828
AR   OFC7.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   Non-syndromic cleft lip/palate 7.
SY   Non-syndromic cleft lip with or without cleft palate 7.
SY   Orofacial cleft 7.
DR   MIM; 225060; phenotype.
DR   MedGen; C1833538.
DR   MedGen; C1857043.
DR   MeSH; D002971.
//
ID   Nonaka myopathy.
AC   DI-02070
AR   NM.
DE   Autosomal recessive muscular disorder, allelic to inclusion body
DE   myopathy 2. It is characterized by weakness of the anterior
DE   compartment of the lower limbs with onset in early adulthood, and
DE   sparing of the quadriceps muscles. As the inclusion body myopathy, NM
DE   is histologically characterized by the presence of numerous rimmed
DE   vacuoles without inflammatory changes in muscle specimens.
SY   GNE myopathy.
SY   HIBM.
SY   IBM2.
SY   Inclusion body myopathy, hereditary, autosomal recessive.
SY   Inclusion body myopathy, quadriceps-sparing.
SY   Inclusion body myopathy 2, autosomal recessive.
SY   Myopathy, distal, with or without rimmed vacuoles.
SY   Myopathy, distal, with rimmed vacuoles.
SY   Nonaka distal myopathy.
SY   QSM.
DR   MIM; 605820; phenotype.
DR   MedGen; C1853926.
//
ID   Noonan syndrome 1.
AC   DI-02072
AR   NS1.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. Some patients with NS1 develop multiple giant
DE   cell lesions of the jaw or other bony or soft tissues, which are
DE   classified as pigmented villonodular synovitis (PVNS) when occurring
DE   in the jaw or joints.
SY   Female pseudo-Turner syndrome.
SY   Male Turner syndrome.
SY   Noonan-like/multiple giant cell lesion syndrome.
SY   Noonan syndrome.
SY   Noonan syndrome-like disorder with multiple giant cell lesions.
SY   Noonan syndrome with pigmented villonodular synovitis.
SY   Pterygium colli syndrome.
SY   Turner phenotype with normal karyotype.
DR   MIM; 163950; phenotype.
DR   MedGen; C0041409.
DR   MedGen; C1527404.
DR   MeSH; D009634.
//
ID   Noonan syndrome 10.
AC   DI-04517
AR   NS10.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. NS10 inheritance is autosomal dominant.
DR   MIM; 616564; phenotype.
DR   MedGen; CN232946.
DR   MeSH; D009634.
//
ID   Noonan syndrome 11.
AC   DI-05614
AR   NS11.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. NS11 inheritance is autosomal dominant.
DR   MIM; 618499; phenotype.
DR   MedGen; CN260594.
DR   MeSH; D009634.
//
ID   Noonan syndrome 12.
AC   DI-05677
AR   NS12.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. NS12 inheritance is autosomal dominant. There is
DE   considerable variability in severity.
DR   MIM; 618624; phenotype.
DR   MedGen; CN262440.
DR   MeSH; D009634.
//
ID   Noonan syndrome 13.
AC   DI-05961
AR   NS13.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. NS13 inheritance is autosomal dominant. There is
DE   considerable variability in severity.
DR   MIM; 619087; phenotype.
DR   MedGen; CN293446.
DR   MeSH; D009634.
//
ID   Noonan syndrome 14.
AC   DI-06344
AR   NS14.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. NS14
DE   inheritance is autosomal recessive.
DR   MIM; 619745; phenotype.
DR   MedGen; CN306436.
DR   MeSH; D009634.
//
ID   Noonan syndrome 2.
AC   DI-05439
AR   NS2.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. NS2 inheritance is autosomal recessive.
SY   Noonan syndrome 2, autosomal recessive.
DR   MIM; 605275; phenotype.
DR   MedGen; C1854469.
DR   MeSH; D009634.
//
ID   Noonan syndrome 3.
AC   DI-02073
AR   NS3.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 609942; phenotype.
DR   MedGen; C1860991.
DR   MeSH; D009634.
//
ID   Noonan syndrome 4.
AC   DI-02074
AR   NS4.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells. Some patients with NS4 have polyarticular
DE   villonodular synovitis.
DR   MIM; 610733; phenotype.
DR   MedGen; C1853120.
DR   MeSH; D009634.
//
ID   Noonan syndrome 5.
AC   DI-02075
AR   NS5.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 611553; phenotype.
DR   MedGen; C1969057.
DR   MeSH; D009634.
//
ID   Noonan syndrome 6.
AC   DI-02558
AR   NS6.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 613224; phenotype.
DR   MedGen; C2750732.
DR   MeSH; D009634.
//
ID   Noonan syndrome 7.
AC   DI-02990
AR   NS7.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 613706; phenotype.
DR   MedGen; C3150970.
DR   MeSH; D009634.
//
ID   Noonan syndrome 8.
AC   DI-03849
AR   NS8.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 615355; phenotype.
DR   MedGen; C3809233.
DR   MedGen; CN178406.
DR   MeSH; D009634.
//
ID   Noonan syndrome 9.
AC   DI-04518
AR   NS9.
DE   A form of Noonan syndrome, a disease characterized by short stature,
DE   facial dysmorphic features such as hypertelorism, a downward eyeslant
DE   and low-set posteriorly rotated ears, and a high incidence of
DE   congenital heart defects and hypertrophic cardiomyopathy. Other
DE   features can include a short neck with webbing or redundancy of skin,
DE   deafness, motor delay, variable intellectual deficits, multiple
DE   skeletal defects, cryptorchidism, and bleeding diathesis. Individuals
DE   with Noonan syndrome are at risk of juvenile myelomonocytic leukemia,
DE   a myeloproliferative disorder characterized by excessive production of
DE   myelomonocytic cells.
DR   MIM; 616559; phenotype.
DR   MedGen; CN232945.
DR   MeSH; D009634.
//
ID   Noonan syndrome-like disorder with loose anagen hair 1.
AC   DI-02076
AR   NSLH1.
DE   A syndrome characterized by Noonan dysmorphic features such as
DE   macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set
DE   and posteriorly rotated ears, short and webbed neck, pectus anomalies,
DE   in association with pluckable, sparse, thin and slow-growing hair.
SY   Mazzanti syndrome.
SY   NSLH.
SY   Tosti syndrome.
DR   MIM; 607721; phenotype.
DR   MedGen; C1843181.
DR   MeSH; D019465.
//
ID   Noonan syndrome-like disorder with loose anagen hair 2.
AC   DI-05011
AR   NSLH2.
DE   A syndrome characterized by Noonan dysmorphic features such as
DE   macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set
DE   and posteriorly rotated ears, short and webbed neck, pectus anomalies,
DE   in association with pluckable, sparse, thin and slow-growing hair.
DR   MIM; 617506; phenotype.
DR   MedGen; CN244048.
DR   MeSH; D019465.
//
ID   Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.
AC   DI-02913
AR   NSLL.
DE   A syndrome characterized by a phenotype reminiscent of Noonan
DE   syndrome. Clinical features are highly variable, including facial
DE   dysmorphism, short neck, developmental delay, hyperextensible joints
DE   and thorax abnormalities with widely spaced nipples. The facial
DE   features consist of triangular face with hypertelorism, large low-set
DE   ears, ptosis, and flat nasal bridge. Some patients manifest cardiac
DE   defects. Some have an increased risk for certain malignancies,
DE   particularly juvenile myelomonocytic leukemia.
DR   MIM; 613563; phenotype.
DR   MedGen; C3150803.
DR   MeSH; D019465.
//
ID   Norrie disease.
AC   DI-02079
AR   ND.
DE   Recessive disorder characterized by very early childhood blindness due
DE   to degenerative and proliferative changes of the neuroretina.
DE   Approximately 50% of patients show some form of progressive mental
DE   disorder, often with psychotic features, and about one-third of
DE   patients develop sensorineural deafness in the second decade. In
DE   addition, some patients have more complex phenotypes, including growth
DE   failure and seizure.
SY   Atrophia bulborum hereditaria.
SY   Episkopi blindness.
DR   MIM; 310600; phenotype.
DR   MedGen; C0266526.
//
ID   North American Indian childhood cirrhosis.
AC   DI-02080
AR   NAIC.
DE   Severe autosomal recessive intrahepatic cholestasis, originally
DE   described in Ojibway-Cree children from northwestern Quebec. NAIC
DE   typically presents with transient neonatal jaundice, in a child who is
DE   otherwise healthy, and progresses to biliary cirrhosis and portal
DE   hypertension. Biochemical and histopathological features suggest
DE   involvement of the bile ducts rather than of the bile canaliculi. They
DE   include elevated gamma glutamyltransferase and alkaline phosphatase
DE   levels, and, typically, marked fibrosis around bile ducts. Clinically,
DE   NAIC is distinct from other nonsyndromic familial cholestases because
DE   of its marked cholangiopathic features and severe degree of fibrosis
DE   on liver histology.
DR   MIM; 604901; phenotype.
DR   MedGen; C1858051.
//
ID   Nystagmus 1, congenital, X-linked.
AC   DI-02439
AR   NYS1.
DE   A form of nystagmus, a condition defined as conjugated, spontaneous
DE   and involuntary ocular oscillations that appear at birth or during the
DE   first three months of life. Other associated features may include
DE   mildly decreased visual acuity, strabismus, astigmatism, and
DE   occasionally head nodding.
SY   Nystagmus 1 infantile X-linked.
SY   Nystagmus congenital motor 1.
SY   Nystagmus infantile idiopathic.
SY   Nystagmus infantile periodic alternating X-linked.
SY   XIPAN.
SY   XLPAN.
DR   MIM; 310700; phenotype.
DR   MedGen; C1839580.
DR   MedGen; C3151880.
DR   MeSH; D020417.
//
ID   Nystagmus 6, congenital, X-linked.
AC   DI-02828
AR   NYS6.
DE   A form of nystagmus, a condition defined as conjugated, spontaneous
DE   and involuntary ocular oscillations that appear at birth or during the
DE   first three months of life. Other associated features may include
DE   mildly decreased visual acuity, strabismus, astigmatism, and
DE   occasionally head nodding.
DR   MIM; 300814; phenotype.
DR   MedGen; C3151752.
DR   MeSH; D020417.
//
ID   Nystagmus 8, congenital, autosomal recessive.
AC   DI-06638
AR   NYS8.
DE   A form of nystagmus, a condition defined as conjugated, spontaneous
DE   and involuntary ocular oscillations that appear at birth or during the
DE   first three months of life. Other associated features may include
DE   mildly decreased visual acuity, strabismus, astigmatism, and
DE   occasionally head nodding. NYS8 patients manifest bilateral horizontal
DE   nystagmus in the absence of other neurologic signs or symptoms. Brain
DE   imaging is normal.
DR   MIM; 257400; phenotype.
DR   MedGen; C3151571.
DR   MeSH; D020417.
//
ID   O'Donnell-Luria-Rodan syndrome.
AC   DI-05620
AR   ODLURO.
DE   A neurodevelopmental disorder characterized by global developmental
DE   delay, speech delay, intellectual disability and a subtle facial
DE   gestalt. Additional common features include autism, seizures,
DE   hypotonia and functional gastrointestinal abnormalities.
DR   MIM; 618512; phenotype.
DR   MedGen; CN261160.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Obesity.
AC   DI-01221
AR   OBESITY.
DE   A condition characterized by an increase of body weight beyond the
DE   limitation of skeletal and physical requirements, as the result of
DE   excessive accumulation of body fat.
DR   MIM; 601665; phenotype.
DR   MedGen; C0028754.
DR   MedGen; C0039870.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   Obesity and hypopigmentation.
AC   DI-06589
AR   OBHP.
DE   An autosomal dominant disorder characterized by early-onset obesity,
DE   overgrowth, hyperinsulinemia, and hypopigmentation of the skin. Some
DE   affected individuals experience hyperphagia and exhibit reduced energy
DE   expenditure.
DR   MIM; 620195; phenotype.
DR   MedGen; CN322831.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   Obesity, early-onset, with adrenal insufficiency and red hair.
AC   DI-02211
AR   OBAIRH.
DE   An autosomal recessive disorder characterized by early-onset obesity
DE   due to severe hyperphagia, pigmentary abnormalities, mainly pale skin
DE   and red hair, and secondary hypocortisolism.
SY   Pro-opiomelanocortinin deficiency.
DR   MIM; 609734; phenotype.
DR   MedGen; C1857854.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   Obesity, hyperphagia, and developmental delay.
AC   DI-03120
AR   OBHD.
DE   A disorder characterized by early-onset obesity, hyperphagia, and
DE   severe developmental delay in motor function, speech, and language.
DR   MIM; 613886; phenotype.
DR   MedGen; C3151303.
DR   MeSH; D002658.
DR   MeSH; D006963.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   Occipital horn syndrome.
AC   DI-00880
AR   OHS.
DE   An X-linked recessive disorder of copper metabolism. Common features
DE   are unusual facial appearance, skeletal abnormalities, chronic
DE   diarrhea and genitourinary defects. The skeletal abnormalities include
DE   occipital horns, short, broad clavicles, deformed radii, ulnae and
DE   humeri, narrowing of the rib cage, undercalcified long bones with thin
DE   cortical walls and coxa valga.
SY   Cutis laxa X-linked.
SY   EDS9.
SY   Ehlers-Danlos syndrome occipital horn type.
DR   MIM; 304150; phenotype.
DR   MedGen; C0268353.
DR   MeSH; D003483.
//
ID   Occult macular dystrophy.
AC   DI-03012
AR   OCMD.
DE   An inherited macular dystrophy characterized by progressive loss of
DE   macular function but normal ophthalmoscopic appearance. It is
DE   typically characterized by a central cone dysfunction leading to a
DE   loss of vision despite normal ophthalmoscopic appearance, normal
DE   fluorescein angiography, and normal full-field electroretinogram
DE   (ERGs), but the amplitudes of the focal macular ERGs and multifocal
DE   ERGs are significantly reduced at the central retina.
SY   OMD.
DR   MIM; 613587; phenotype.
DR   MedGen; C3150833.
DR   MeSH; D008268.
//
ID   Oculoauricular syndrome.
AC   DI-02084
AR   OCACS.
DE   A syndrome characterized by microphthalmia, microcornea, anterior
DE   segment dysgenesis, cataract, ocular coloboma, retinal pigment
DE   epithelium abnormalities, rod-cone dystrophy, and anomalies of the
DE   external ear.
SY   Schorderet-Munier-Franceschetti syndrome.
DR   MIM; 612109; phenotype.
DR   MedGen; C2677500.
DR   MeSH; D005124.
KW   KW-0898:Cataract.
KW   KW-1013:Microphthalmia.
//
ID   Oculodentodigital dysplasia.
AC   DI-01222
AR   ODDD.
DE   A disease characterized by a typical facial appearance and variable
DE   involvement of the eyes, dentition, and fingers. Characteristic facial
DE   features include a narrow, pinched nose with hypoplastic alae nasi,
DE   prominent columella and thin anteverted nares together with a narrow
DE   nasal bridge, and prominent epicanthic folds giving the impression of
DE   hypertelorism. The teeth are usually small and carious. Typical eye
DE   findings include microphthalmia and microcornea. The characteristic
DE   digital malformation is complete syndactyly of the fourth and fifth
DE   fingers (syndactyly type III) but the third finger may be involved and
DE   associated camptodactyly is a common finding. Cardiac abnormalities
DE   are observed in rare instances.
SY   Oculo-dento-digital dysplasia.
SY   Oculodentodigital syndrome.
SY   Oculo-dento-digital syndrome.
SY   Oculodentoosseous dysplasia.
SY   ODDS.
SY   ODD syndrome.
SY   ODOD.
DR   MIM; 164200; phenotype.
DR   MedGen; C0812437.
DR   MeSH; D008850.
DR   MeSH; D013576.
DR   MeSH; D014071.
//
ID   Oculodentodigital dysplasia, autosomal recessive.
AC   DI-01251
AR   ODDD-AR.
DE   A disease characterized by a typical facial appearance and variable
DE   involvement of the eyes, dentition, and fingers. Characteristic facial
DE   features include a narrow, pinched nose with hypoplastic alae nasi,
DE   prominent columella and thin anteverted nares together with a narrow
DE   nasal bridge, and prominent epicanthic folds giving the impression of
DE   hypertelorism. The teeth are usually small and carious. Typical eye
DE   findings include microphthalmia and microcornea. The characteristic
DE   digital malformation is complete syndactyly of the fourth and fifth
DE   fingers (syndactyly type III) but the third finger may be involved and
DE   associated camptodactyly is a common finding. Cardiac abnormalities
DE   are observed in rare instances.
SY   Autosomal recessive oculodentoosseous dysplasia.
SY   Autosomal recessive ODDD.
SY   Autosomal recessive ODD syndrome.
SY   Autosomal recessive ODOD.
DR   MIM; 257850; phenotype.
DR   MedGen; C2749477.
DR   MeSH; D008850.
DR   MeSH; D013576.
DR   MeSH; D014071.
//
ID   Oculoectodermal syndrome.
AC   DI-05645
AR   OES.
DE   A syndrome characterized by the association of epibulbar dermoids and
DE   aplasia cutis congenita. Affected individuals show multiple,
DE   asymmetric, atrophic, non-scarring and hairless regions that may be
DE   associated with hamartomas. Ectodermal changes include linear
DE   hyperpigmentation that may follow the lines of Blaschko and rarely
DE   epidermal nevus-like lesions. Epibulbar dermoids may be uni-or
DE   bilateral. Additional ocular anomalies such as skin tags of the upper
DE   eyelid, rarely optic nerve or retinal changes, and microphthalmia can
DE   be present. The phenotypic expression is highly variable, and various
DE   other abnormalities have occasionally been reported including growth
DE   failure, lymphedema, cardiovascular defects, as well as
DE   neurodevelopmental symptoms like developmental delay, epilepsy,
DE   learning difficulties, and behavioral abnormalities. Benign tumor-like
DE   lesions such as nonossifying fibromas of the long bones and giant cell
DE   granulomas of the jaws have repeatedly been observed and appear to be
DE   age-dependent, becoming a common manifestation in individuals aged 5
DE   years or older.
SY   Aplasia cutis congenita with epibulbar dermoids.
SY   Toriello-Lacassie-Droste syndrome.
DR   MIM; 600268; phenotype.
DR   MedGen; C1838329.
DR   MeSH; D003884.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Oculogastrointestinal neurodevelopmental syndrome.
AC   DI-06103
AR   OGIN.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   growth deficits, microcephaly, global developmental delay, hearing
DE   loss, and microphthalmia and/or coloboma. Other congenital anomalies
DE   include imperforate anus, horseshoe kidney, and structural cardiac
DE   defects. Some patients have been reported with normal motor and
DE   cognitive development.
DR   MIM; 619318; phenotype.
DR   MedGen; CN296590.
DR   MeSH; D065886.
KW   KW-0209:Deafness.
KW   KW-1013:Microphthalmia.
//
ID   Oculomotor-abducens synkinesis.
AC   DI-06034
AR   OCABSN.
DE   An autosomal recessive disorder characterized by ptosis and elevation
DE   of the eyelid on ipsilateral abduction. OCABSN features are consistent
DE   with abnormal innervation of the levator palpebrae superioris muscle,
DE   which raises the eyelid, and the lateral rectus muscle, which controls
DE   lateral eye movement.
DR   MIM; 619215; phenotype.
DR   MedGen; CN295793.
DR   MeSH; D015835.
DR   MeSH; D046608.
//
ID   Oculopharyngeal muscular dystrophy 1.
AC   DI-00881
AR   OPMD1.
DE   An autosomal dominant, late-onset, slowly progressive myopathy
DE   characterized by eyelid ptosis, dysphagia and, sometimes by other
DE   cranial and limb-muscle involvement.
SY   Mscular dystrophy, oculopharyngeal.
DR   MIM; 164300; phenotype.
DR   MedGen; C0270952.
DR   MeSH; D039141.
//
ID   Oculopharyngeal muscular dystrophy 2.
AC   DI-06737
AR   OPMD2.
DE   An autosomal dominant, early-onset myopathy characterized by
DE   progressive muscle weakness, ptosis, ophthalmoplegia, dysphagia, and
DE   variable degrees of respiratory insufficiency.
DR   MIM; 620460; phenotype.
DR   MedGen; CN372469.
DR   MeSH; D039141.
//
ID   Oculopharyngodistal myopathy 1.
AC   DI-05685
AR   OPDM1.
DE   A form of oculopharyngodistal myopathy, a muscle disorder
DE   characterized by progressive ptosis, external ophthalmoplegia, and
DE   weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE   The myopathological features are presence of rimmed vacuoles in the
DE   muscle fibers and myopathic changes of differing severity. OPDM1
DE   inheritance pattern is autosomal dominant.
SY   Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement.
SY   FOLP-DR.
SY   Oculopharyngodistal myopathy.
SY   OPDM.
DR   MIM; 164310; phenotype.
DR   MedGen; C1834014.
DR   MeSH; D039141.
//
ID   Oculopharyngodistal myopathy 2.
AC   DI-05872
AR   OPDM2.
DE   A form of oculopharyngodistal myopathy, a muscle disorder
DE   characterized by progressive ptosis, external ophthalmoplegia, and
DE   weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE   The myopathological features are presence of rimmed vacuoles in the
DE   muscle fibers and myopathic changes of differing severity. OPDM2
DE   inheritance pattern is autosomal dominant.
DR   MIM; 618940; phenotype.
DR   MedGen; CN283268.
DR   MeSH; D039141.
//
ID   Oculopharyngodistal myopathy 3.
AC   DI-06192
AR   OPDM3.
DE   A form of oculopharyngodistal myopathy, a rare hereditary muscle
DE   disease characterized by progressive distal limb weakness, ptosis,
DE   ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle
DE   biopsy. In addition to muscular features, OPDM3 patients may develop
DE   pigmentary retinopathy, peripheral neuropathy, or hearing loss.
DE   Cognition is usually not affected, but there may be deficits or
DE   psychiatric manifestations. Brain imaging tends to show a
DE   leukoencephalopathy, often with a characteristic linear signal along
DE   the corticomedullary junction on brain imaging. OPDM3 is a slowly
DE   progressive form with an autosomal dominant transmission pattern, and
DE   variable age at onset ranging from childhood to late adulthood.
DR   MIM; 619473; phenotype.
DR   MedGen; CN301128.
DR   MeSH; D039141.
//
ID   Oculopharyngodistal myopathy 4.
AC   DI-06365
AR   OPDM4.
DE   A form of oculopharyngodistal myopathy, a muscle disorder
DE   characterized by progressive ptosis, external ophthalmoplegia, and
DE   weakness of the masseter, facial, pharyngeal, and distal limb muscles.
DE   The myopathological features are presence of rimmed vacuoles in the
DE   muscle fibers and myopathic changes of differing severity. OPDM4 is an
DE   autosomal dominant form characterized by slow progression and onset of
DE   symptoms in the second or third decades.
DR   MIM; 619790; phenotype.
DR   MedGen; CN307058.
DR   MeSH; D039141.
//
ID   Oculoskeletodental syndrome.
AC   DI-05573
AR   OCSKD.
DE   An autosomal recessive syndrome characterized by congenital cataracts,
DE   short stature, dysmorphic features with coarse facies, dental
DE   anomalies, multiple skeletal abnormalities, and neurological
DE   manifestations. Other recurrent features include hearing loss,
DE   secondary glaucoma, and nephrocalcinosis.
SY   Cataracts, early-onset, with skeletal and dental anomalies.
DR   MIM; 618440; phenotype.
DR   MedGen; CN258760.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
//
ID   Odonto-onycho-dermal dysplasia.
AC   DI-00882
AR   OODD.
DE   A rare autosomal recessive ectodermal dysplasia characterized by dry
DE   hair, severe hypodontia, smooth tongue with marked reduction of
DE   fungiform and filiform papillae, onychodysplasia, keratoderma and
DE   hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
SY   ECTD16.
SY   Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type.
SY   Tricho-odonto-onycho-dermal dysplasia.
DR   MIM; 257980; phenotype.
DR   MedGen; C0796093.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Odontochondrodysplasia 1.
AC   DI-05493
AR   ODCD1.
DE   An autosomal recessive disorder of skeletal and dental development
DE   characterized by mesomelic shortening of tubular bones, ligamentous
DE   laxity, scoliosis, and dentinogenesis imperfecta involving both
DE   primary and secondary dentition. Radiologic features include trident
DE   pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-
DE   shaped epiphyses.
SY   Goldblatt syndrome.
SY   ODCD.
SY   Spondylometaphyseal dysplasia with dentinogenesis imperfecta.
DR   MIM; 184260; phenotype.
DR   MedGen; C2745953.
DR   MeSH; D010009.
DR   MeSH; D014071.
//
ID   Odontochondrodysplasia 2 with hearing loss and diabetes.
AC   DI-06079
AR   ODCD2.
DE   An autosomal recessive disorder characterized by dentinogenesis
DE   imperfecta, delayed tooth eruption, growth retardation with
DE   proportionate short stature, skeletal abnormalities, and dysmorphic
DE   facies in association with insulin-dependent diabetes mellitus,
DE   sensorineural hearing loss, and mild intellectual disability.
DR   MIM; 619269; phenotype.
DR   MedGen; CN296332.
DR   MeSH; D001847.
DR   MeSH; D003920.
DR   MeSH; D008607.
DR   MeSH; D014071.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Ohdo syndrome, SBBYS variant.
AC   DI-03311
AR   SBBYSS.
DE   A syndrome characterized by distinctive facial appearance with severe
DE   blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and
DE   a small mouth with a thin upper lip. The condition presents in infancy
DE   with severe hypotonia and feeding problems. Associated skeletal
DE   problems include joint laxity, abnormally long thumbs and great toes,
DE   and dislocated or hypoplastic patellae. Structural cardiac defects are
DE   present in around 50% of cases, and dental anomalies, including small
DE   and pointed teeth, are common. Optic atrophy and conductive or
DE   sensorineural deafness are repeatedly reported. Many affected
DE   individuals have abnormalities of thyroid structure or function.
DE   SBBYSS is usually associated with severe intellectual disability,
DE   delayed motor milestones, and significantly impaired speech.
SY   Say-Barber-Biesecker variant of Ohdo syndrome.
SY   Say-Barber-Biesecker-Young-Simpson syndrome.
SY   Young-Simpson syndrome.
SY   YSS.
DR   MIM; 603736; phenotype.
DR   MedGen; C1863557.
DR   MeSH; D000015.
DR   MeSH; D008607.
DR   MeSH; D016569.
//
ID   Ohdo syndrome, X-linked.
AC   DI-03741
AR   OHDOX.
DE   A syndrome characterized by intellectual disability, feeding problems,
DE   and distinctive facial appearance with coarse facial features, severe
DE   blepharophimosis, ptosis, a bulbous nose, micrognathia and a small
DE   mouth. Dental hypoplasia and deafness can be considered as common
DE   manifestations of the syndrome. Male patients show cryptorchidism and
DE   scrotal hypoplasia.
SY   Ohdo syndrome Maat-Kievit-Brunner type.
SY   Ohdo syndrome MKB type.
DR   MIM; 300895; phenotype.
DR   MedGen; C3698541.
DR   MedGen; CN169514.
DR   MeSH; D001763.
DR   MeSH; D008607.
DR   MeSH; D016569.
KW   KW-0991:Intellectual disability.
//
ID   Okur-Chung neurodevelopmental syndrome.
AC   DI-04799
AR   OCNDS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   developmental delay, intellectual disability, behavioral problems,
DE   hypotonia, speech problems, microcephaly, pachygyria and variable
DE   dysmorphic features.
DR   MIM; 617062; phenotype.
DR   MedGen; CN237805.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Oligodontia-colorectal cancer syndrome.
AC   DI-02092
AR   ODCRCS.
DE   Affected individuals manifest severe tooth agenesis and colorectal
DE   cancer or precancerous lesions of variable types.
DR   MIM; 608615; phenotype.
DR   MedGen; C1837750.
//
ID   Oliver-McFarlane syndrome.
AC   DI-04369
AR   OMCS.
DE   A rare autosomal recessive, congenital syndrome characterized by
DE   trichomegaly, severe chorioretinal atrophy and multiple pituitary
DE   hormone deficiencies. It results in intellectual impairment and
DE   dwarfism, if untreated. Clinical features include hypogonadotropic
DE   hypogonadism during puberty, pigmentary retinal degeneration, ataxia,
DE   spastic paraplegia, and peripheral neuropathy.
SY   Congenital trichomegaly, pigmentary retinal degeneration, and short stature.
SY   Trichomegaly, retina pigmentary degeneration, dwarfism.
SY   Trichomegaly retina pigmentary degeneration dwarfism.
DR   MIM; 275400; phenotype.
DR   MedGen; C1848745.
DR   MeSH; D002658.
DR   MeSH; D004392.
DR   MeSH; D006983.
DR   MeSH; D058499.
KW   KW-0242:Dwarfism.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0991:Intellectual disability.
//
ID   Olmsted syndrome 1.
AC   DI-03430
AR   OLMS1.
DE   An autosomal dominant, rare congenital disorder characterized by
DE   bilateral mutilating palmoplantar keratoderma and periorificial
DE   keratotic plaques with severe itching at all lesions. Diffuse
DE   alopecia, constriction of digits, and onychodystrophy have also been
DE   reported. Infections and squamous cell carcinomas can arise on the
DE   keratotic areas. The digital constriction may progress to
DE   autoamputation of fingers and toes.
SY   Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
DR   MIM; 614594; phenotype.
DR   MedGen; C2609071.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Olmsted syndrome 2.
AC   DI-06019
AR   OLMS2.
DE   A form of Olmsted syndrome, a rare congenital disorder characterized
DE   by bilateral mutilating palmoplantar keratoderma and periorificial
DE   keratotic plaques with severe itching at all lesions. Diffuse
DE   alopecia, constriction of digits, and onychodystrophy have also been
DE   reported. Infections and squamous cell carcinomas can arise on the
DE   keratotic areas. The digital constriction may progress to
DE   autoamputation of fingers and toes. OLMS2 is an autosomal dominant
DE   form with onset in the first months of life or in early childhood.
SY   Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2.
SY   PPKM2.
DR   MIM; 619208; phenotype.
DR   MedGen; CN295312.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Olmsted syndrome, X-linked.
AC   DI-04106
AR   OLMSX.
DE   A rare congenital disorder characterized by bilateral mutilating
DE   palmoplantar keratoderma and periorificial keratotic plaques with
DE   severe itching at all lesions. Diffuse alopecia, constriction of
DE   digits, and onychodystrophy have also been reported. Infections and
DE   squamous cell carcinomas can arise on the keratotic areas. The digital
DE   constriction may progress to autoamputation of fingers and toes.
SY   Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked.
SY   PPKMX.
DR   MIM; 300918; phenotype.
DR   MedGen; C3806745.
DR   MedGen; CN186175.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Omenn syndrome.
AC   DI-02093
AR   OS.
DE   Severe immunodeficiency characterized by the presence of activated,
DE   anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.
DR   MIM; 603554; phenotype.
DR   MedGen; C1801959.
DR   MedGen; C2931884.
//
ID   Omodysplasia 1.
AC   DI-02618
AR   OMOD1.
DE   A rare autosomal recessive skeletal dysplasia characterized by facial
DE   dysmorphism and severe congenital micromelia with shortening and
DE   distal tapering of the humeri and femora, to give a club-like
DE   appearance. Typical facial features include a prominent forehead,
DE   frontal bossing, short nose with a depressed broad bridge, short
DE   columella, anteverted nostrils, long philtrum, and small chin.
SY   Micromelic dysplasia congenital with dislocation of radius.
SY   Omodysplasia autosomal recessive.
SY   Omodysplasia generalized form.
DR   MIM; 258315; phenotype.
DR   MedGen; C1850318.
DR   MedGen; C2936816.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Omodysplasia 2.
AC   DI-05491
AR   OMOD2.
DE   A rare autosomal dominant skeletal dysplasia characterized by short
DE   humeri, radial head dislocation, short first metacarpals, facial
DE   dysmorphism and genitourinary anomalies.
SY   Omodysplasia, autosomal dominant.
DR   MIM; 164745; phenotype.
DR   MedGen; C2750355.
DR   MeSH; D010009.
//
ID   Omphalocele, autosomal.
AC   DI-03657
AR   OMPHA.
DE   An omphalocele is an abdominal wall defect limited to an open
DE   umbilical ring, and is characterized by the herniation of membrane-
DE   covered internal organs into the open base of the umbilical cord. It
DE   appears as a skin-covered protrusion at the umbilicus during crying,
DE   coughing, or straining.
SY   Chromosome 1p31 duplication syndrome.
SY   Omphalocele due to duplication of 1p31.3.
DR   MIM; 164750; phenotype.
DR   MedGen; C3277235.
DR   MeSH; D006554.
//
ID   Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.
AC   DI-06139
AR   OORS.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, impaired intellectual development, seizures or tonic posturing,
DE   dysmorphic facial features, and hypoplastic terminal phalanges and
DE   nails.
SY   Glycosylphosphatidylinositol biosynthesis defect 24.
SY   GPIBD24.
SY   OORS syndrome.
DR   MIM; 619356; phenotype.
DR   MedGen; CN297337.
DR   MeSH; D001848.
DR   MeSH; D008607.
DR   MeSH; D009260.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Oocyte/zygote/embryo maturation arrest 1.
AC   DI-04091
AR   OZEMA1.
DE   An autosomal recessive infertility disorder caused by defective oocyte
DE   maturation that results in abnormal eggs lacking a zona pellucida.
DE   Affected females have normal menstrual cycles and sex hormone levels,
DE   no obstruction in the fallopian tubes or abnormalities of the uterus
DE   or adnexa.
SY   Oocyte maturation defect 1.
SY   OOMD.
SY   OOMD1.
DR   MIM; 615774; phenotype.
DR   MedGen; CN186706.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 10.
AC   DI-06030
AR   OZEMA10.
DE   An autosomal recessive infertility disorder due to abnormal
DE   fertilization of mature oocytes, with development of multiple
DE   pronuclei or absent pronucleus, and early embryonic arrest.
SY   Oocyte maturation defect 10.
SY   OOMD10.
DR   MIM; 619176; phenotype.
DR   MedGen; CN295260.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 11.
AC   DI-06281
AR   OZEMA11.
DE   An autosomal recessive disorder characterized by decreased or absent
DE   fertility and poor embryonic outcomes with assisted reproductive
DE   technology.
SY   Oocyte maturation defect 11.
SY   OOMD11.
DR   MIM; 619643; phenotype.
DR   MedGen; CN305006.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 12.
AC   DI-06313
AR   OZEMA12.
DE   An autosomal recessive disorder characterized by infertility due to
DE   early embryonic arrest.
SY   Oocyte maturation defect 12.
SY   OOMD12.
DR   MIM; 619697; phenotype.
DR   MedGen; CN305741.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 13.
AC   DI-06561
AR   OZEMA13.
DE   An autosomal recessive female infertility disorder characterized by
DE   embryonic development arrest and embryo implantation failure.
SY   Oocyte maturation defect 13.
SY   OOMD13.
DR   MIM; 620154; phenotype.
DR   MedGen; CN322566.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 14.
AC   DI-06627
AR   OZEMA14.
DE   An autosomal recessive female infertility disorder characterized by
DE   oocyte maturation arrest, fertilization failure, and/or early
DE   embryonic arrest.
SY   Oocyte maturation defect 14.
SY   OOMD14.
DR   MIM; 620276; phenotype.
DR   MedGen; CN323665.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 15.
AC   DI-04651
AR   OZEMA15.
DE   A rare cause of female primary infertility. In affected women,
DE   ovulation proceeds normally and the retrieved oocytes appear normal,
DE   but zygote formation and division are severely impaired. Inheritance
DE   is autosomal recessive.
SY   Preimplantation embryonic lethality 1.
SY   PREMBL1.
DR   MIM; 616814; phenotype.
DR   MedGen; CN235583.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 16.
AC   DI-04914
AR   OZEMA16.
DE   A rare cause of female primary infertility. In affected women,
DE   ovulation and fertilization proceed normally but embryos are arrested
DE   at early stages of development. Inheritance is autosomal recessive.
SY   Preimplantation embryonic lethality 2.
SY   PREMBL2.
DR   MIM; 617234; phenotype.
DR   MedGen; CN239491.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 17.
AC   DI-06643
AR   OZEMA17.
DE   A rare cause of female primary infertility. In affected women,
DE   ovulation and fertilization proceed normally but embryos are arrested
DE   at early stages of development or cannot establish pregnancy after
DE   implantation. Inheritance is autosomal recessive.
DR   MIM; 620319; phenotype.
DR   MedGen; CN324063.
DR   MeSH; D007246.
//
ID   Oocyte/zygote/embryo maturation arrest 18.
AC   DI-06661
AR   OZEMA18.
DE   An autosomal recessive female infertility disorder. In affected women,
DE   ovulation and fertilization proceed normally but embryos are arrested
DE   at early stages of development or cannot establish pregnancy after
DE   implantation.
DR   MIM; 620332; phenotype.
DR   MedGen; CN327002.
DR   MeSH; D007246.
//
ID   Oocyte/zygote/embryo maturation arrest 19.
AC   DI-06662
AR   OZEMA19.
DE   An autosomal recessive female infertility disorder characterized by
DE   reduced fertilization rate, oocyte maturation arrest at germinal
DE   vesicle stage, and early embryonic arrest.
DR   MIM; 620333; phenotype.
DR   MedGen; CN327003.
DR   MeSH; D007246.
//
ID   Oocyte/zygote/embryo maturation arrest 2.
AC   DI-04613
AR   OZEMA2.
DE   A primary infertility disorder caused by defective oocyte maturation.
DE   Oocytes are arrested at metaphase I, and have an abnormal or no
DE   detectable spindle on polarization microscopy. OOMD2 inheritance can
DE   be autosomal dominant or autosomal recessive.
SY   Oocyte maturation defect 2.
SY   OOMD2.
DR   MIM; 616780; phenotype.
DR   MedGen; CN235180.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 20.
AC   DI-06690
AR   OZEMA20.
DE   An autosomal recessive, female infertility disorder characterized by
DE   early embryonic arrest and fragmentation. Early embryo fragmentation
DE   is defined by the presence of anucleate cell fragments derived from
DE   the blastomeres. Excessive embryo fragmentation is associated with
DE   deleterious outcomes, including decreased implantation rate.
DR   MIM; 620383; phenotype.
DR   MedGen; CN327140.
DR   MeSH; D007246.
//
ID   Oocyte/zygote/embryo maturation arrest 3.
AC   DI-05111
AR   OZEMA3.
DE   An autosomal dominant infertility disorder characterized by abnormal
DE   oocytes that lack the zona pellucida, and oocytes degeneration.
SY   Oocyte maturation defect 3.
SY   OOMD3.
DR   MIM; 617712; phenotype.
DR   MedGen; CN523306.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 4.
AC   DI-05112
AR   OZEMA4.
DE   An autosomal recessive infertility disorder characterized by oocyte
DE   maturation arrest that can occur at different stages of maturation.
DE   Some oocytes exhibit maturation arrest at the germinal vesicle stage
DE   and others at the metaphase I stage. Oocytes progressing to polar body
DE   I either undergo fertilization failure or, in those that are
DE   fertilized, early embryonic arrest.
SY   Oocyte maturation defect 4.
SY   OOMD4.
DR   MIM; 617743; phenotype.
DR   MedGen; CN562785.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 5.
AC   DI-05264
AR   OZEMA5.
DE   An autosomal recessive infertility disorder characterized by oocyte
DE   inability to exit metaphase II, resulting in fertilization failure.
SY   Oocyte maturation defect 5.
SY   OOMD5.
DR   MIM; 617996; phenotype.
DR   MedGen; CN238505.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 6.
AC   DI-05501
AR   OZEMA6.
DE   An autosomal recessive infertility disorder characterized by oocyte
DE   fertilization failure, due to defective sperm-binding to an abnormally
DE   thin zona pellucida in patient oocytes.
SY   Oocyte maturation defect 6.
SY   OOMD6.
DR   MIM; 618353; phenotype.
DR   MedGen; CN258242.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 7.
AC   DI-05642
AR   OZEMA7.
DE   An autosomal dominant infertility disorder due to oocyte degeneration
DE   and death, which may occur before or after fertilization.
SY   Oocyte maturation defect 7.
SY   OOMD7.
DR   MIM; 618550; phenotype.
DR   MedGen; CN262218.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 8.
AC   DI-05911
AR   OZEMA8.
DE   An autosomal recessive infertility disorder due to failure of the
DE   fertilized ovum to undergo zygotic cleavage.
SY   Oocyte maturation defect 8.
SY   OOMD8.
DR   MIM; 619009; phenotype.
DR   MedGen; CN283352.
DR   MeSH; D007247.
//
ID   Oocyte/zygote/embryo maturation arrest 9.
AC   DI-05912
AR   OZEMA9.
DE   An autosomal recessive infertility disorder due to oocyte meiotic
DE   arrest at metaphase I. Abnormal zygotic cleavage has been observed in
DE   some patients.
SY   Oocyte maturation defect 9.
SY   OOMD9.
DR   MIM; 619011; phenotype.
DR   MedGen; CN283354.
DR   MeSH; D007247.
//
ID   Ophthalmoacromelic syndrome.
AC   DI-03004
AR   OAS.
DE   A rare disorder presenting with ocular anomalies, ranging from mild
DE   microphthalmia to true anophthalmia, and limb anomalies. Limb
DE   malformations include fused 4th and 5th metacarpals and short 5th
DE   finger in hands, and oligodactyly in foot (four toes). Most patients
DE   have bilateral anophthalmia/ microphthalmia, but unilateral
DE   abnormality is also noted. Other malformations are rare, but venous or
DE   vertebral anomaly was recognized each in single cases.
SY   Anophthalmia-syndactyly.
SY   Microphthalmia with limb anomalies.
SY   MLA.
SY   Waardenburg anophthalmia syndrome.
DR   MIM; 206920; phenotype.
DR   MedGen; C0599973.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Ophthalmoplegia, external, with rib and vertebral anomalies.
AC   DI-05356
AR   EORVA.
DE   An autosomal recessive disorder characterized by congenital
DE   nonprogressive external ophthalmoplegia, ptosis, scoliosis,
DE   torticollis, and vertebral and rib anomalies.
DR   MIM; 618155; phenotype.
DR   MedGen; CN257745.
DR   MeSH; D009886.
//
ID   Opitz GBBB syndrome.
AC   DI-02094
AR   GBBB.
DE   A congenital midline malformation syndrome characterized by
DE   hypertelorism, genital-urinary defects such as hypospadias in males
DE   and splayed labia in females, cleft lip/palate,
DE   laryngotracheoesophageal abnormalities, imperforate anus,
DE   developmental delay and congenital heart defects.
SY   BBBG1.
SY   GGGB1.
SY   Hypertelorism-hypospadias syndrome.
SY   Hypertelorism with esophageal abnormality and hypospadias.
SY   Opitz BBBG syndrome type I.
SY   Opitz GBBB syndrome type I.
SY   Opitz GBBB syndrome X-linked.
SY   Opitz-G syndrome type I.
SY   Opitz syndrome.
SY   Opitz syndrome X-linked.
SY   OS.
SY   OSX.
SY   Telecanthus-hypospadias syndrome.
DR   MIM; 300000; phenotype.
DR   MedGen; C0175696.
DR   MedGen; C2936904.
DR   MeSH; D006972.
DR   MeSH; D007021.
//
ID   Opitz-Kaveggia syndrome.
AC   DI-02095
AR   OKS.
DE   X-linked disorder characterized by intellectual disability, relative
DE   macrocephaly, hypotonia and constipation.
SY   FGS.
SY   FGS1.
SY   FG syndrome.
SY   FG syndrome type 1.
DR   MIM; 305450; phenotype.
DR   MedGen; C0220769.
//
ID   Opsismodysplasia.
AC   DI-03691
AR   OPSMD.
DE   A rare skeletal dysplasia involving delayed bone maturation. Clinical
DE   signs observed at birth include short limbs, small hands and feet,
DE   relative macrocephaly with a large anterior fontanel, and
DE   characteristic craniofacial abnormalities including a prominent brow,
DE   depressed nasal bridge, a small anteverted nose, and a relatively long
DE   philtrum. Death secondary to respiratory failure during the first few
DE   years of life has been reported, but there can be long-term survival.
DE   Typical radiographic findings include shortened long bones with very
DE   delayed epiphyseal ossification, severe platyspondyly, metaphyseal
DE   cupping, and characteristic abnormalities of the metacarpals and
DE   phalanges.
DR   MIM; 258480; phenotype.
DR   MedGen; C0432219.
DR   MeSH; D010009.
//
ID   Optic atrophy 1.
AC   DI-02097
AR   OPA1.
DE   A condition that features progressive visual loss in association with
DE   optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE   number of nerve fibers which arise in the retina and converge to form
DE   the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is
DE   characterized by an insidious onset of visual impairment in early
DE   childhood with moderate to severe loss of visual acuity, temporal
DE   optic disk pallor, color vision deficits, and centrocecal scotoma of
DE   variable density.
SY   Kjer-type optic atrophy.
SY   OAK.
SY   Optic atrophy juvenile.
SY   Optic atrophy Kjer type.
DR   MIM; 165500; phenotype.
DR   MedGen; C0338508.
DR   MeSH; D029241.
//
ID   Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures.
AC   DI-04624
AR   OPA10.
DE   An autosomal recessive disease characterized by progressive visual
DE   loss in association with optic atrophy. Atrophy of the optic disk
DE   indicates a deficiency in the number of nerve fibers which arise in
DE   the retina and converge to form the optic disk, optic nerve, optic
DE   chiasm and optic tracts. OPA10 patients may also manifest mild ataxia,
DE   mild intellectual disability and, rarely, generalized seizures.
DR   MIM; 616732; phenotype.
DR   MedGen; CN234752.
DR   MeSH; D015418.
//
ID   Optic atrophy 11.
AC   DI-04928
AR   OPA11.
DE   An autosomal recessive disease characterized by progressive visual
DE   loss in association with optic atrophy. Atrophy of the optic disk
DE   indicates a deficiency in the number of nerve fibers which arise in
DE   the retina and converge to form the optic disk, optic nerve, optic
DE   chiasm and optic tracts. OPA11 patients also manifest delayed
DE   psychomotor development, intellectual disability, ataxia, and
DE   leukoencephalopathy on brain imaging.
DR   MIM; 617302; phenotype.
DR   MedGen; CN239957.
DR   MeSH; D015418.
//
ID   Optic atrophy 12.
AC   DI-05893
AR   OPA12.
DE   An autosomal dominant disease characterized by progressive visual loss
DE   in association with optic atrophy. Atrophy of the optic disk indicates
DE   a deficiency in the number of nerve fibers which arise in the retina
DE   and converge to form the optic disk, optic nerve, optic chiasm and
DE   optic tracts. OPA12 patients manifest slowly progressive visual
DE   impairment with onset usually in the first decade. Some patients may
DE   exhibit additional features including impaired intellectual
DE   development, dystonia, movement disorders, or ataxia.
DR   MIM; 618977; phenotype.
DR   MedGen; CN283325.
DR   MeSH; D015418.
//
ID   Optic atrophy 13 with retinal and foveal abnormalities.
AC   DI-05921
AR   OPA13.
DE   An autosomal dominant disease characterized by visual impairment in
DE   association with bilateral optic atrophy. Atrophy of the optic disk
DE   indicates a deficiency in the number of nerve fibers which arise in
DE   the retina and converge to form the optic disk, optic nerve, optic
DE   chiasm and optic tracts. Many OPA13 patients also exhibit retinal
DE   pigmentary defects, attenuated retinal vasculature, macular dystrophy,
DE   and foveopathy. Some patients may develop additional systemic
DE   features, including sensorineural deafness and progressive nephropathy
DE   resulting in renal failure.
DR   MIM; 165510; phenotype.
DR   MedGen; C1833799.
DR   MeSH; D015418.
//
ID   Optic atrophy 3.
AC   DI-02098
AR   OPA3.
DE   A condition that features progressive visual loss in association with
DE   optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE   number of nerve fibers which arise in the retina and converge to form
DE   the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is
DE   associated with cataract and a neurologic disorder characterized by
DE   extrapyramidal signs and ataxia.
SY   ADOAC.
SY   Autosomal dominant optic atrophy and cataract.
SY   Optic atrophy 3 autosomal dominant.
DR   MIM; 165300; phenotype.
DR   MedGen; C1833809.
DR   MeSH; D015418.
//
ID   Optic atrophy 5.
AC   DI-05126
AR   OPA5.
DE   A form of optic atrophy, a disease characterized by progressive visual
DE   loss in association with a deficiency in the number of nerve fibers
DE   which arise in the retina and converge to form the optic disk, optic
DE   nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant
DE   non-syndromic form that manifests as slowly progressive visual loss
DE   with variable onset from the first to third decades. Additional ocular
DE   abnormalities may include central scotoma and dyschromatopsia.
DR   MIM; 610708; phenotype.
DR   MedGen; C1853139.
DR   MeSH; D015418.
//
ID   Optic atrophy 7 with or without auditory neuropathy.
AC   DI-02531
AR   OPA7.
DE   A hereditary condition that features progressive visual loss in
DE   association with optic atrophy. Atrophy of the optic disk indicates a
DE   deficiency in the number of nerve fibers which arise in the retina and
DE   converge to form the optic disk, optic nerve, optic chiasm and optic
DE   tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy
DE   characterized by severe bilateral deficiency in visual acuity, optic
DE   disk pallor, and central scotoma. Some patients manifest hearing loss.
SY   Optic atrophy 7.
DR   MIM; 612989; phenotype.
DR   MedGen; C2751812.
DR   MeSH; D015418.
//
ID   Optic atrophy 9.
AC   DI-04381
AR   OPA9.
DE   A condition that features progressive visual loss in association with
DE   optic atrophy. Atrophy of the optic disk indicates a deficiency in the
DE   number of nerve fibers which arise in the retina and converge to form
DE   the optic disk, optic nerve, optic chiasm and optic tracts.
DR   MIM; 616289; phenotype.
DR   MedGen; CN229336.
DR   MeSH; D015418.
//
ID   Optic disk anomalies with retinal and/or macular dystrophy.
AC   DI-00757
AR   ODRMD.
DE   An ocular disorder characterized by optic nerve dysplasia, optic disk
DE   anomalies, chorioretinal dystrophy and macular atrophy. Some patients
DE   have microphthalmia.
DR   MIM; 212550; phenotype.
DR   MedGen; C1859311.
DR   MeSH; D008850.
KW   KW-1013:Microphthalmia.
//
ID   Ornithine carbamoyltransferase deficiency.
AC   DI-00883
AR   OTCD.
DE   An X-linked disorder of the urea cycle which causes a form of
DE   hyperammonemia. Mutations with no residual enzyme activity are always
DE   expressed in hemizygote males by a very severe neonatal hyperammonemic
DE   coma that generally proves to be fatal. Heterozygous females are
DE   either asymptomatic or express orotic aciduria spontaneously or after
DE   protein intake. The disorder is treatable with supplemental dietary
DE   arginine and low protein diet. The arbitrary classification of
DE   patients into the 'neonatal' group (clinical hyperammonemia in the
DE   first few days of life) and 'late' onset (clinical presentation after
DE   the neonatal period) has been used to differentiate severe from mild
DE   forms.
SY   Hyperammonemia due to ornithine carbamoyltransferase deficiency.
SY   Ornithine transcarbamylase deficiency.
SY   OTC deficiency.
DR   MIM; 311250; phenotype.
DR   MedGen; C0268542.
DR   MedGen; C1839530.
DR   MeSH; D020163.
DR   MeSH; D022124.
//
ID   Orofacial cleft 8.
AC   DI-00829
AR   OFC8.
DE   A birth defect consisting of cleft lips with or without cleft palate.
DE   Cleft lips are associated with cleft palate in two-third of cases. A
DE   cleft lip can occur on one or both sides and range in severity from a
DE   simple notch in the upper lip to a complete opening in the lip
DE   extending into the floor of the nostril and involving the upper gum.
SY   Cleft lip with or without cleft palate, nonsyndromic, 8.
SY   Non-syndromic cleft lip/palate 8.
SY   Non-syndromic cleft lip with or without cleft palate 8.
DR   MIM; 618149; phenotype.
DR   MedGen; C1851878.
DR   MedGen; C1851879.
DR   MeSH; D002971.
//
ID   Orofaciodigital syndrome 1.
AC   DI-02099
AR   OFD1.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by abnormalities in the oral cavity, face, and digits
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD1 is X-linked dominant syndrome, lethal in
DE   males. Craniofacial findings consist of facial asymmetry,
DE   hypertelorism, median cleft, or pseudocleft of the upper lip,
DE   hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue
DE   anomalies (clefting, cysts, hamartoma), and anomalous dentition
DE   involving missing or extra teeth. Asymmetric brachydactyly and/or
DE   syndactyly of the fingers and toes occur frequently. Approximately 50%
DE   of OFD1 females have some degree of intellectual disability. Some
DE   patients have structural central nervous system anomalies such as
DE   agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-
DE   Walker malformation. Patients with OFD1 can develop fibrocystic
DE   disease of the liver and pancreas, in addition to polycystic kidneys.
SY   OFDS I.
SY   Oral-facial-digital syndrome, type I.
SY   Oral-facial-digital syndrome 1.
SY   Orofaciodigital syndrome I.
SY   Papillon-Leage and Psaume syndrome.
DR   MIM; 311200; phenotype.
DR   MedGen; C1510460.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 14.
AC   DI-04201
AR   OFD14.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD14 patients show severe microcephaly, cerebral
DE   malformations the molar tooth sign, and intellectual disability in
DE   addition to canonical OFDS features.
DR   MIM; 615948; phenotype.
DR   MedGen; CN207829.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 15.
AC   DI-04826
AR   OFD15.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD15 features include facial dysmorphism,
DE   lobulated tongue, clefting of the alveolar ridges, left hand postaxial
DE   polydactyly, broad right hallux and left hallux duplication, and
DE   intermittent respiratory difficulty. Brain anomalies include vermis
DE   hypoplasia with molar tooth sign, agenesis of corpus callosum, and
DE   ventricular dilation. OFD15 inheritance is autosomal recessive.
SY   OFDS XV.
SY   Oro-facio-digital syndrome, XV.
SY   Orofaciodigital syndrome XV.
DR   MIM; 617127; phenotype.
DR   MedGen; CN238514.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 16.
AC   DI-05037
AR   OFD16.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD16 features include postaxial polydactyly of
DE   the hands and feet, multiple tongue cysts, and dysmorphic features,
DE   including frontal narrowing, short palpebral fissures, flat nasal
DE   bridge, retrognathia, and low-set ears. Neurologic features include
DE   delayed psychomotor development and severe cognitive impairment. OFD16
DE   inheritance is autosomal recessive.
SY   OFDS XVI.
SY   Oral-facial-digital syndrome, type XVI.
SY   Orofaciodigital syndrome XVI.
DR   MIM; 617563; phenotype.
DR   MedGen; CN317535.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 17.
AC   DI-05202
AR   OFD17.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD17 inheritance is autosomal recessive.
SY   OFDS XVII.
SY   Oral-facial-digital syndrome, type XVII.
SY   Orofaciodigital syndrome XVII.
DR   MIM; 617926; phenotype.
DR   MedGen; CN902091.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 18.
AC   DI-05224
AR   OFD18.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD18 is an autosomal recessive form
DE   characterized by short stature, brachymesophalangy, pre- and postaxial
DE   polysyndactyly, and stocky femoral necks, as well as oral anomalies
DE   and dysmorphic facial features.
SY   OFDS XVIII.
SY   Oral-facial-digital syndrome XVIII.
DR   MIM; 617927; phenotype.
DR   MedGen; CN244546.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 19.
AC   DI-06536
AR   OFD19.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD19 is an autosomal recessive form
DE   characterized by tongue nodules, dental and digital anomalies, narrow
DE   high-arched or cleft palate, and retrognathia. Some patients have
DE   notching of the upper or lower lip.
SY   OFDS XIX.
SY   Oro-facio-digital syndrome, type XIX.
SY   Orofaciodigital syndrome XIX.
DR   MIM; 620107; phenotype.
DR   MedGen; CN322366.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 4.
AC   DI-03516
AR   OFD4.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD4 patients have tongue nodules, multiple
DE   frenulae, broad flat nose, hypertelorism, and short rib polydactyly
DE   with tibial dysplasia (Majewski syndrome). The presence of severe
DE   tibial aplasia differentiates OFD4 from OFD1. Additional features of
DE   cystic dysplastic kidneys and brain malformation, including occipital
DE   encephalocele, are observed in severely affected patients.
SY   Baraitser-Burn syndrome.
SY   Mohr-Majewski syndrome.
SY   OFDS IV.
SY   OFD syndrome Baraitser-Burn type.
SY   OFD syndrome with tibial defects.
SY   Oral-facial-digital syndrome, type IV.
SY   Oral-facial-digital syndrome 4.
SY   Orofaciodigital syndrome IV.
DR   MIM; 258860; phenotype.
DR   MedGen; C0406727.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 5.
AC   DI-03935
AR   OFD5.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD5 patients show the core features of cleft
DE   palate, lobulated tongue, and polydactyly. Additional features include
DE   frontal bossing and intellectual disability.
SY   OFDS V.
SY   Oral-facial-digital syndrome, type V.
SY   Oral-facial-digital syndrome 5.
SY   Orofaciodigital syndrome Thurston type.
SY   Orofaciodigital syndrome V.
SY   Papillon-Leage and Psaume syndrome.
SY   Polydactyly, postaxial, with median cleft of upper lip.
SY   Thurston syndrome.
DR   MIM; 174300; phenotype.
DR   MedGen; C1868118.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orofaciodigital syndrome 6.
AC   DI-04278
AR   OFD6.
DE   A form of orofaciodigital syndrome, a group of heterogeneous disorders
DE   characterized by malformations of the oral cavity, face and digits,
DE   and associated phenotypic abnormalities that lead to the delineation
DE   of various subtypes. OFD6 is characterized by metacarpal abnormalities
DE   with central polydactyly, cerebellar abnormalities including the molar
DE   tooth sign, tongue hamartomas, additional frenula, and upper lip
DE   notch.
SY   OFDS VI.
SY   Oral-facial-digital syndrome, type VI.
SY   Oral-facial-digital syndrome 6.
SY   Orofaciodigital syndrome VI.
SY   Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation.
SY   Varadi-PAPP syndrome.
SY   Varadi syndrome.
DR   MIM; 277170; phenotype.
DR   MedGen; C2745997.
DR   MeSH; D009958.
KW   KW-1186:Ciliopathy.
//
ID   Orotic aciduria 1.
AC   DI-01730
AR   ORAC1.
DE   A disorder of pyrimidine metabolism resulting in megaloblastic anemia
DE   and orotic acid crystalluria that is frequently associated with some
DE   degree of physical and intellectual disability. A minority of cases
DE   have additional features, particularly congenital malformations and
DE   immune deficiencies.
SY   OPRT and ODC deficiency.
SY   Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency.
SY   Orotic aciduria.
SY   Oroticaciduria 1.
SY   Orotic aciduria I.
SY   Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency.
SY   UMPS deficiency.
SY   UMP synthase deficiency.
SY   Uridine monophosphate synthase deficiency.
DR   MIM; 258900; phenotype.
DR   MedGen; C0268128.
DR   MedGen; C0268130.
DR   MeSH; D011686.
//
ID   Orthostatic hypotension 1.
AC   DI-01502
AR   ORTHYP1.
DE   A form of orthostatic hypotension due to congenital dopamine beta-
DE   hydroxylase deficiency. Orthostatic hypotension, also known as
DE   postural hypotension, is a finding defined as a 20-mm Hg decrease in
DE   systolic pressure or a 10-mm Hg decrease in diastolic pressure
DE   occurring 3 minutes after a person has risen from supine to standing.
DE   Symptoms include dizziness, blurred vision, and sometimes syncope.
DE   ORTHYP1 is an autosomal recessive condition apparent from infancy or
DE   early childhood and characterized by low plasma and urinary levels of
DE   norepinephrine and epinephrine, and episodic hypoglycemia.
SY   DBH deficiency.
SY   Dopamine beta-hydroxylase deficiency.
SY   Noradrenaline deficiency.
SY   Norepinephrine deficiency.
DR   MIM; 223360; phenotype.
DR   MedGen; C0342687.
DR   MeSH; D007024.
//
ID   Orthostatic hypotension 2.
AC   DI-05383
AR   ORTHYP2.
DE   An autosomal recessive disorder characterized by severe orthostatic
DE   hypotension apparent from infancy or early childhood, low plasma and
DE   urinary levels of norepinephrine and epinephrine, and episodic
DE   hypoglycemia. Some patients may also have renal dysfunction and
DE   reduced life expectancy. Orthostatic hypotension, also known as
DE   postural hypotension, is a finding defined as a 20-mm Hg decrease in
DE   systolic pressure or a 10-mm Hg decrease in diastolic pressure
DE   occurring 3 minutes after a person has risen from supine to standing.
DE   Symptoms include dizziness, blurred vision, and sometimes syncope.
DR   MIM; 618182; phenotype.
DR   MedGen; CN257786.
DR   MeSH; D007024.
//
ID   Orthostatic intolerance.
AC   DI-02100
AR   OI.
DE   An autosomal dominant disorder characterized by lightheadedness,
DE   palpitations, fatigue, blurred vision and tachycardia following
DE   postural change from a supine to an upright position, in the absence
DE   of hypotension. A syncope with transient cognitive impairment and
DE   dyspnea may also occur. Plasma norepinephrine concentration is
DE   abnormally high.
SY   Irritable heart.
SY   Mitral valve prolapse syndrome.
SY   Neurocirculatory asthenia.
SY   Postural orthostatic tachycardia syndrome.
SY   Postural tachycardia syndrome.
SY   POTS.
SY   Soldiers heart.
DR   MIM; 604715; phenotype.
DR   MedGen; C0026267.
DR   MedGen; C2930833.
DR   MeSH; D054972.
//
ID   Ossification of the posterior longitudinal ligament of the spine.
AC   DI-02820
AR   OPLL.
DE   A calcification of the posterior longitudinal ligament of the spinal
DE   column, usually at the level of the cervical spine. Patients with OPLL
DE   frequently present with a severe myelopathy that can lead to
DE   tetraparesis.
DR   MIM; 602475; phenotype.
DR   MedGen; C1865343.
DR   MeSH; D017887.
//
ID   Osteoarthritis 1.
AC   DI-02641
AR   OS1.
DE   A degenerative disease of the joints characterized by degradation of
DE   the hyaline articular cartilage and remodeling of the subchondral bone
DE   with sclerosis. Clinical symptoms include pain and joint stiffness
DE   often leading to significant disability and joint replacement.
SY   OA.
SY   Osteoarthritis of hip female-specific.
SY   Osteoarthrosis.
DR   MIM; 165720; phenotype.
DR   MedGen; C0029408.
DR   MeSH; D010003.
//
ID   Osteoarthritis 2.
AC   DI-02642
AR   OS2.
DE   A degenerative disease of the joints characterized by degradation of
DE   the hyaline articular cartilage and remodeling of the subchondral bone
DE   with sclerosis. Clinical symptoms include pain and joint stiffness
DE   often leading to significant disability and joint replacement. In the
DE   hand, osteoarthritis can develop in the distal interphalangeal and the
DE   first carpometacarpal (base of thumb) and proximal interphalangeal
DE   joints. Patients with osteoarthritis may have one, a few, or all of
DE   these sites affected.
SY   DIPOA.
SY   Hand osteoarthritis.
SY   Heberden nodes.
SY   HOA.
SY   OADIP.
SY   Osteoarthritis of distal interphalangeal joints.
DR   MIM; 140600; phenotype.
DR   MedGen; C0018862.
DR   MedGen; C0409957.
DR   MeSH; D010003.
//
ID   Osteoarthritis 3.
AC   DI-02643
AR   OS3.
DE   A degenerative disease of the joints characterized by degradation of
DE   the hyaline articular cartilage and remodeling of the subchondral bone
DE   with sclerosis. Clinical symptoms include pain and joint stiffness
DE   often leading to significant disability and joint replacement.
SY   Osteoarthritis of knee/hip.
DR   MIM; 607850; phenotype.
DR   MedGen; C2675609.
DR   MeSH; D010003.
//
ID   Osteoarthritis 5.
AC   DI-02644
AR   OS5.
DE   A degenerative disease of the joints characterized by degradation of
DE   the hyaline articular cartilage and remodeling of the subchondral bone
DE   with sclerosis. Clinical symptoms include pain and joint stiffness
DE   often leading to significant disability and joint replacement.
SY   Osteoarthritis of hip.
DR   MIM; 612400; phenotype.
DR   MedGen; C0029410.
DR   MeSH; D010003.
//
ID   Osteoarthritis with mild chondrodysplasia.
AC   DI-02101
AR   OSCDP.
DE   Osteoarthritis is a common disease that produces joint pain and
DE   stiffness together with radiologic evidence of progressive
DE   degeneration of joint cartilage.
SY   Namaqualand hip dysplasia.
SY   NHD.
DR   MIM; 604864; phenotype.
DR   MedGen; C1858079.
DR   MeSH; D010003.
DR   MeSH; D010009.
//
ID   Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.
AC   DI-05363
AR   OCBMD.
DE   An autosomal recessive disorder characterized by bilateral symmetric
DE   skeletal defects that primarily affect the limbs. Affected individuals
DE   have mild short stature due to shortening of the lower leg bones, as
DE   well as hand and foot malformations, predominantly brachydactyly and
DE   overlapping digits. Other skeletal defects include scoliosis,
DE   dislocated patellae and fibulae, and pectus excavatum.
DR   MIM; 618167; phenotype.
DR   MedGen; CN257753.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.
AC   DI-04702
AR   OCLSBG.
DE   An autosomal recessive, lethal syndrome characterized by severe
DE   hypomineralization of the entire skeleton, severe osteopenia,
DE   microcephaly, multiple intra-uterine fractures, and multiple
DE   congenital developmental anomalies affecting the brain, lungs, and
DE   kidneys.
DR   MIM; 616897; phenotype.
DR   MedGen; CN235911.
DR   MeSH; D010009.
KW   KW-1186:Ciliopathy.
//
ID   Osteofibrous dysplasia.
AC   DI-04712
AR   OSFD.
DE   A congenital disorder of osteogenesis characterized by non-neoplastic,
DE   radiolucent lesions that affect the cortical bone immediately under
DE   the periosteum. It usually manifests as a painless swelling or
DE   anterior bowing of the long bones, most commonly the tibia and fibula.
SY   Bowing of tibia with pseudarthrosis and pectus excavatum.
SY   OFD.
DR   MIM; 607278; phenotype.
DR   MedGen; C1709353.
DR   MeSH; D001848.
//
ID   Osteogenesis imperfecta 1.
AC   DI-02106
AR   OI1.
DE   An autosomal dominant form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI1 is a non-deforming form with
DE   normal height or mild short stature, and no dentinogenesis imperfecta.
SY   OI, type I.
SY   OI-I.
SY   Osteogenesis imperfecta tarda.
SY   Osteogenesis imperfecta type I.
SY   Osteogenesis imperfecta with blue sclerae.
SY   Osteopenic non-fracture syndrome.
DR   MIM; 166200; phenotype.
DR   MedGen; C0023931.
DR   MedGen; C2674706.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 10.
AC   DI-03068
AR   OI10.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI10 is an autosomal recessive form characterized by
DE   multiple bone deformities and fractures, generalized osteopenia,
DE   dentinogenesis imperfecta, and blue sclerae.
SY   OI type X.
SY   OI-X.
SY   Osteogenesis imperfecta type X.
DR   MIM; 613848; phenotype.
DR   MedGen; C3151211.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 11.
AC   DI-03069
AR   OI11.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI11 is an autosomal recessive form.
SY   OI type XI.
SY   OI-XI.
SY   Osteogenesis imperfecta type XI.
DR   MIM; 610968; phenotype.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 12.
AC   DI-03173
AR   OI12.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI12 is an autosomal recessive form characterized by
DE   recurrent fractures, mild bone deformations, generalized osteoporosis,
DE   delayed teeth eruption, no dentinogenesis imperfecta, normal hearing,
DE   and white sclerae.
SY   OI type XII.
SY   OI-XII.
SY   Osteogenesis imperfecta Sillence type III.
SY   Osteogenesis imperfecta type XII.
DR   MIM; 613849; phenotype.
DR   MedGen; C3151218.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 13.
AC   DI-03557
AR   OI13.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI13 is characterized by normal teeth,
DE   faint blue sclerae, severe growth deficiency, borderline osteoporosis,
DE   severe bone deformity, and recurrent fractures affecting both upper
DE   and lower limbs.
SY   OI type XIII.
SY   OI-XIII.
SY   Osteogenesis imperfecta type XIII.
DR   MIM; 614856; phenotype.
DR   MedGen; C3553887.
DR   MedGen; CN158711.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 14.
AC   DI-03686
AR   OI14.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI14 is characterized by variable
DE   degrees of severity of multiple fractures and osteopenia, with normal
DE   teeth, sclerae, and hearing. Fractures first occur prenatally or by
DE   age 6 years.
SY   OI type XIV.
SY   OI-XIV.
SY   Osteogenesis imperfecta type XIV.
DR   MIM; 615066; phenotype.
DR   MedGen; C3554428.
DR   MedGen; CN165469.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 15.
AC   DI-03754
AR   OI15.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI15 is characterized by early-onset
DE   recurrent fractures, bone deformity, significant reduction of bone
DE   density, short stature, and, in some patients, blue sclerae. Tooth
DE   development and hearing are normal. Learning and developmental delays
DE   and brain anomalies have been observed in some patients.
SY   OI type XV.
SY   OI-XV.
SY   Osteogenesis imperfecta type XV.
DR   MIM; 615220; phenotype.
DR   MedGen; C3808844.
DR   MedGen; CN169385.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 16.
AC   DI-04377
AR   OI16.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI16 is a severe form.
SY   Chromosome 11p11.2 deletion syndrome, 91.3-KB.
SY   OI, type XVI.
DR   MIM; 616229; phenotype.
DR   MedGen; CN226295.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 17.
AC   DI-04503
AR   OI17.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae.
SY   Osteogenesis imperfecta, type XVII.
DR   MIM; 616507; phenotype.
DR   MedGen; CN232082.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 18.
AC   DI-05240
AR   OI18.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI18 is a severe form characterized by
DE   congenital bowing of the lower limb, wormian bones, blue sclerae,
DE   vertebral collapses and multiple fractures in the first years of life.
SY   Osteogenesis imperfecta, type XVIII.
DR   MIM; 617952; phenotype.
DR   MedGen; CN244563.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 19.
AC   DI-05299
AR   OI19.
DE   An X-linked form of osteogenesis imperfecta, a connective tissue
DE   disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI19 is characterized by prenatal
DE   fractures, short stature, white sclerae, variable scoliosis and pectal
DE   deformity, striking tibial anterior angulation and generalized
DE   osteopenia.
SY   Osteogenesis imperfecta, type XIX.
DR   MIM; 301014; phenotype.
DR   MedGen; CN252653.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 2.
AC   DI-02107
AR   OI2.
DE   An autosomal dominant form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI2 is characterized by bone
DE   fragility, with many perinatal fractures, severe bowing of long bones,
DE   undermineralization, and death in the perinatal period due to
DE   respiratory insufficiency.
SY   OI, type II.
SY   OIC.
SY   OI-II.
SY   OI-IIA.
SY   OI type IIA.
SY   Osteogenesis imperfecta congenita.
SY   Osteogenesis imperfecta congenita perinatal lethal form.
SY   Osteogenesis imperfecta type IIA.
SY   Osteogenesis imperfecta type II autosomal dominant.
SY   Vrolik type of osteogenesis imperfecta.
DR   MIM; 166210; phenotype.
DR   MedGen; C0268358.
DR   MedGen; C0268360.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 20.
AC   DI-05682
AR   OI20.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI20 is a progressive deforming form
DE   characterized by osteopenia, skeletal deformity, healed fractures, and
DE   newly-acquired fractures. Death due to respiratory failure can occur
DE   in some patients.
SY   Osteogenesis imperfecta, type XX.
DR   MIM; 618644; phenotype.
DR   MedGen; CN262534.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 21.
AC   DI-05995
AR   OI21.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI21 is a progressively deforming form
DE   characterized by multiple fractures appearing at birth or early
DE   childhood.
SY   Osteogenesis imperfecta, type XXI.
DR   MIM; 619131; phenotype.
DR   MedGen; CN293593.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 22.
AC   DI-06367
AR   OI22.
DE   An autosomal recessive form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI22 is a severe form of the disease.
SY   Osteogenesis imperfecta, type XXII.
DR   MIM; 619795; phenotype.
DR   MedGen; CN307041.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 3.
AC   DI-02108
AR   OI3.
DE   An autosomal dominant form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI3 is characterized by progressively
DE   deforming bones, very short stature, a triangular face, severe
DE   scoliosis, grayish sclera and dentinogenesis imperfecta.
SY   OI, type III.
SY   OI-III.
SY   Osteogenesis imperfecta type III.
SY   Progressively deforming osteogenesis imperfecta with normal sclerae.
DR   MIM; 259420; phenotype.
DR   MedGen; C0268362.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 4.
AC   DI-02103
AR   OI4.
DE   An autosomal dominant form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI4 is characterized by moderately
DE   short stature, mild to moderate scoliosis, grayish or white sclera and
DE   dentinogenesis imperfecta.
SY   OI, type IV.
SY   OI-IV.
SY   Osteogenesis imperfecta type IV.
SY   Osteogenesis imperfecta with normal sclerae.
DR   MIM; 166220; phenotype.
DR   MedGen; C0268363.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 5.
AC   DI-03563
AR   OI5.
DE   An autosomal dominant form of osteogenesis imperfecta, a connective
DE   tissue disorder characterized by low bone mass, bone fragility and
DE   susceptibility to fractures after minimal trauma. Disease severity
DE   ranges from very mild forms without fractures to intrauterine
DE   fractures and perinatal lethality. Extraskeletal manifestations, which
DE   affect a variable number of patients, are dentinogenesis imperfecta,
DE   hearing loss, and blue sclerae. OI5 patients manifest moderate to
DE   severe bone fragility, calcification of the forearm interosseous
DE   membrane, radial head dislocation, a subphyseal metaphyseal radiodense
DE   line, and hyperplastic callus formation.
SY   OI type V.
SY   OI-V.
SY   Osteogenesis imperfecta type V.
DR   MIM; 610967; phenotype.
DR   MedGen; C1970414.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 6.
AC   DI-02725
AR   OI6.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI6 is a severe, autosomal recessive form compatible
DE   with OI type III in the Sillence classification.
SY   OI type VI.
SY   OI-VI.
SY   Osteogenesis imperfecta type VI.
DR   MIM; 613982; phenotype.
DR   MedGen; C3279564.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 7.
AC   DI-02104
AR   OI7.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI7 is an autosomal recessive, severe form. Multiple
DE   fractures are present at birth and patients have short stature, short
DE   humeri and femora, coxa vara, and white sclera. Dentinogenesis
DE   imperfecta is absent. Death can occur in the perinatal period due to
DE   secondary respiratory insufficiency.
SY   OI2B.
SY   OI-IIB.
SY   OI type IIB.
SY   OI type VII.
SY   OI-VII.
SY   Osteogenesis imperfecta perinatal lethal autosomal recessive.
SY   Osteogenesis imperfecta type II autosomal recessive.
SY   Osteogenesis imperfecta type IIB.
SY   Osteogenesis imperfecta type VII.
DR   MIM; 610682; phenotype.
DR   MedGen; C1853162.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 8.
AC   DI-02105
AR   OI8.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI8 is characterized by disproportionate short stature,
DE   severe osteoporosis, shortening of the long bones, white sclerae, a
DE   round face and a short barrel-shaped chest.
SY   OI type VIII.
SY   OI-VIII.
SY   Osteogenesis imperfecta type VIII.
DR   MIM; 610915; phenotype.
DR   MedGen; C1970458.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenesis imperfecta 9.
AC   DI-02542
AR   OI9.
DE   A form of osteogenesis imperfecta, a connective tissue disorder
DE   characterized by low bone mass, bone fragility and susceptibility to
DE   fractures after minimal trauma. Disease severity ranges from very mild
DE   forms without fractures to intrauterine fractures and perinatal
DE   lethality. Extraskeletal manifestations, which affect a variable
DE   number of patients, are dentinogenesis imperfecta, hearing loss, and
DE   blue sclerae. OI9 is a severe autosomal recessive form of the
DE   disorder.
SY   OI-IX.
SY   OI type IX.
SY   Osteogenesis imperfecta Sillence type II/III without abnormality of type I collagen.
SY   Osteogenesis imperfecta type IX.
DR   MIM; 259440; phenotype.
DR   MedGen; C1850169.
DR   MeSH; D010013.
KW   KW-0242:Dwarfism.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteogenic sarcoma.
AC   DI-02109
AR   OSRC.
DE   A sarcoma originating in bone-forming cells, affecting the ends of
DE   long bones.
SY   Osteosarcoma.
DR   MIM; 259500; phenotype.
DR   MedGen; C0029463.
DR   MeSH; D012516.
//
ID   Osteoglophonic dysplasia.
AC   DI-02110
AR   OGD.
DE   Characterized by craniosynostosis, prominent supraorbital ridge, and
DE   depressed nasal bridge, as well as by rhizomelic dwarfism and
DE   nonossifying bone lesions. Inheritance is autosomal dominant.
SY   Osteoglophonic dwarfism.
DR   MIM; 166250; phenotype.
DR   MedGen; C0432283.
//
ID   Osteootohepatoenteric syndrome.
AC   DI-06143
AR   OOHE.
DE   An autosomal recessive disorder characterized by cholestasis,
DE   congenital diarrhea, impaired hearing, and bone fragility. Some
DE   patients also display mild developmental delay and intellectual
DE   disability.
DR   MIM; 619377; phenotype.
DR   MedGen; CN297086.
DR   MeSH; D001847.
DR   MeSH; D004066.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
//
ID   Osteopathia striata with cranial sclerosis.
AC   DI-02547
AR   OSCS.
DE   An X-linked dominant sclerosing bone dysplasia that presents in
DE   females with macrocephaly, cleft palate, facial palsy, conductive
DE   hearing loss, mild learning disabilities, sclerosis of the long bones
DE   and skull. Longitudinal striations are visible on radiographs of the
DE   long bones, pelvis, and scapulae (osteopathia striata). In males this
DE   entity is usually associated with fetal or neonatal lethality.
DE   Occasional surviving males have, in addition to hyperostosis, cardiac,
DE   intestinal, and genitourinary malformations.
SY   Hyperostosis generalisata with striations.
SY   Robinow-Unger syndrome.
DR   MIM; 300373; phenotype.
DR   MedGen; C0432268.
DR   MeSH; D010009.
//
ID   Osteopetrosis, autosomal dominant 1.
AC   DI-00884
AR   OPTA1.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. OPTA1 is an autosomal dominant form
DE   characterized by generalized osteosclerosis most pronounced in the
DE   cranial vault. Patients are often asymptomatic, but some suffer from
DE   pain and hearing loss. It appears to be the only type of osteopetrosis
DE   not associated with an increased fracture rate.
DR   MIM; 607634; phenotype.
DR   MedGen; C1843330.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal dominant 2.
AC   DI-00885
AR   OPTA2.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. OPTA2 is the most common form of
DE   osteopetrosis, occurring in adolescence or adulthood. It is
DE   characterized by sclerosis, predominantly involving the spine, the
DE   pelvis and the skull base.
SY   Autosomal dominant Albers-Schonberg disease.
SY   Marble disease autosomal dominant.
DR   MIM; 166600; phenotype.
DR   MedGen; C1833700.
DR   MedGen; C3179239.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal dominant 3.
AC   DI-05323
AR   OPTA3.
DE   A form of osteopetrosis, a rare genetic disease characterized by
DE   abnormally dense bone, due to defective resorption of immature bone.
DE   Osteopetrosis occurs in two forms: a severe autosomal recessive form
DE   occurring in utero, infancy, or childhood, and an autosomal dominant
DE   form occurring in adolescence or adulthood. OPTA3 is characterized by
DE   typical features of osteopetrosis such as fractures after minor
DE   trauma, early tooth loss, anemia, hepatosplenomegaly, and a
DE   generalized increase in bone mineral density. Some patients exhibit
DE   localized osteosclerosis and generalized osteopenia.
DR   MIM; 618107; phenotype.
DR   MedGen; CN253817.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 1.
AC   DI-00886
AR   OPTB1.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves.
SY   Autosomal recessive Albers-Schonberg disease.
SY   Infantile malignant osteopetrosis.
DR   MIM; 259700; phenotype.
DR   MedGen; C1850127.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 2.
AC   DI-00887
AR   OPTB2.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves. OPTB2 is characterized by
DE   paucity of osteoclasts, suggesting a molecular defect in osteoclast
DE   development.
SY   Osteoclast-poor osteopetrosis.
DR   MIM; 259710; phenotype.
DR   MedGen; C1850126.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 3.
AC   DI-01252
AR   OPTB3.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves. OPTB3 is associated with
DE   renal tubular acidosis, cerebral calcification (marble brain disease)
DE   and in some cases with intellectual disability.
SY   Carbonic anhydrase II deficiency syndrome.
SY   Guibaud-Vainsel syndrome.
SY   Marble brain disease.
SY   Osteopetrosis with renal tubular acidosis.
DR   MIM; 259730; phenotype.
DR   MedGen; C0345407.
DR   MeSH; D000141.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 4.
AC   DI-00888
AR   OPTB4.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves.
SY   Infantile malignant osteopetrosis 2.
DR   MIM; 611490; phenotype.
DR   MedGen; C1969106.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 5.
AC   DI-00889
AR   OPTB5.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves. OPTB5 patients manifest
DE   primary central nervous system involvement in addition to the
DE   classical stigmata of severe bone sclerosis, growth failure, anemia,
DE   thrombocytopenia and visual impairment with optic atrophy.
SY   Infantile malignant osteopetrosis 3.
DR   MIM; 259720; phenotype.
DR   MedGen; C1968603.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 6.
AC   DI-01253
AR   OPTB6.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves.
SY   Autosomal recessive osteopetrosis intermediate form.
DR   MIM; 611497; phenotype.
DR   MedGen; C1969093.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 7.
AC   DI-00890
AR   OPTB7.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves. OPTB7 is characterized by
DE   paucity of osteoclasts, suggesting a molecular defect in osteoclast
DE   development. OPTB7 is associated with hypogammaglobulinemia.
SY   Osteoclast-poor osteopetrosis with hypogammaglobulinemia.
DR   MIM; 612301; phenotype.
DR   MedGen; C2676766.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 8.
AC   DI-03656
AR   OPTB8.
DE   A rare genetic disease characterized by abnormally dense bone, due to
DE   defective resorption of immature bone. Osteopetrosis occurs in two
DE   forms: a severe autosomal recessive form occurring in utero, infancy,
DE   or childhood, and a benign autosomal dominant form occurring in
DE   adolescence or adulthood. Recessive osteopetrosis commonly manifests
DE   in early infancy with macrocephaly, feeding difficulties, evolving
DE   blindness and deafness, bone marrow failure, severe anemia, and
DE   hepatosplenomegaly. Deafness and blindness are generally thought to
DE   represent effects of pressure on nerves. OPTB8 is clinically
DE   characterized by dense bones with no distinction between outer and
DE   inner plates, due to extensive encroachment of cortical bone into the
DE   medullary space, increased head circumference, broad open fontanelle,
DE   frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and
DE   their bone resorptive capacity is impaired.
DR   MIM; 615085; phenotype.
DR   MedGen; C3554478.
DR   MedGen; CN165701.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteopetrosis, autosomal recessive 9.
AC   DI-06679
AR   OPTB9.
DE   A form of osteopetrosis, a rare genetic disease characterized by
DE   abnormally dense bone, due to defective resorption of immature bone.
DE   Osteopetrosis occurs in two forms: a severe autosomal recessive form
DE   occurring in utero, infancy, or childhood, and a benign autosomal
DE   dominant form occurring in adolescence or adulthood. Recessive
DE   osteopetrosis commonly manifests in early infancy with macrocephaly,
DE   feeding difficulties, evolving blindness and deafness, bone marrow
DE   failure, severe anemia, and hepatosplenomegaly. Deafness and blindness
DE   are generally thought to represent effects of pressure on nerves.
DE   OPTB9 is characterized by increased bone density and bone fragility,
DE   as well as renal failure.
DR   MIM; 620366; phenotype.
DR   MedGen; CN327045.
DR   MeSH; D010022.
KW   KW-0987:Osteopetrosis.
//
ID   Osteoporosis.
AC   DI-02659
AR   OSTEOP.
DE   A systemic skeletal disorder characterized by decreased bone mass and
DE   deterioration of bone microarchitecture without alteration in the
DE   composition of bone. The result is fragile bones and an increased risk
DE   of fractures, even after minimal trauma. Osteoporosis is a chronic
DE   condition of multifactorial etiology and is usually clinically silent
DE   until a fracture occurs.
SY   Involutional osteoporosis.
SY   Postmenopausal osteoporosis.
SY   Senile osteoporosis.
DR   MIM; 166710; phenotype.
DR   MedGen; C0029456.
DR   MedGen; C0029458.
DR   MedGen; C0029459.
DR   MedGen; C2674640.
DR   MeSH; D010024.
//
ID   Osteoporosis, childhood- or juvenile-onset, with developmental delay.
AC   DI-06432
AR   OPDD.
DE   An autosomal dominant disorder characterized by decreased bone mass
DE   and deterioration of bone microarchitecture, fragile bones, recurrent
DE   fractures following minor trauma, and developmental delay of variable
DE   severity.
DR   MIM; 619884; phenotype.
DR   MedGen; CN312434.
DR   MeSH; D010024.
DR   MeSH; D065886.
//
ID   Osteoporosis-pseudoglioma syndrome.
AC   DI-02111
AR   OPPG.
DE   A disease characterized by congenital or infancy-onset blindness and
DE   severe juvenile-onset osteoporosis and spontaneous fractures.
DE   Additional clinical manifestations may include microphthalmos,
DE   abnormalities of the iris, lens or vitreous, cataracts, short stature,
DE   microcephaly, ligamental laxity, intellectual disability and
DE   hypotonia.
SY   OPS.
SY   Osteogenesis imperfecta ocular form.
DR   MIM; 259770; phenotype.
DR   MedGen; C0432252.
DR   MeSH; D010013.
KW   KW-1065:Osteogenesis imperfecta.
//
ID   Osteosclerotic metaphyseal dysplasia.
AC   DI-06297
AR   OSMD.
DE   An autosomal recessive skeletal dysplasia characterized by
DE   osteosclerosis at multiple skeletal sites, predominantly at the
DE   metaphyses of the long bones and vertebral bodies.
DR   MIM; 615198; phenotype.
DR   MedGen; C3554665.
DR   MeSH; D010026.
//
ID   Otitis media.
AC   DI-05294
AR   OM.
DE   An inflammation of the middle ear resulting in earache, fever, hearing
DE   disturbance, and vertigo.
SY   COME/ROM.
SY   OMS.
SY   Otitis media, chronic/recurrent.
DR   MIM; 166760; phenotype.
DR   MedGen; C1833692.
DR   MeSH; D010033.
//
ID   Otofaciocervical syndrome 1.
AC   DI-02112
AR   OTFCS1.
DE   A disorder characterized by facial dysmorphism, cup-shaped low-set
DE   ears, preauricular fistulas, hearing loss, branchial defects, skeletal
DE   anomalies including vertebral defects, low-set clavicles, winged
DE   scapulae, sloping shoulders, and mild intellectual disability.
SY   OFC.
SY   OFC1.
SY   OTFCS.
SY   Oto-facio-cervical syndrome.
DR   MIM; 166780; phenotype.
DR   MedGen; C1833691.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Otofaciocervical syndrome 2, with T-cell deficiency.
AC   DI-03986
AR   OTFCS2.
DE   An autosomal recessive disorder characterized by facial dysmorphism,
DE   cup-shaped low-set ears, preauricular fistulas, hearing loss,
DE   branchial defects, skeletal anomalies including vertebral defects,
DE   low-set clavicles, winged scapulae, sloping shoulders, and mild
DE   intellectual disability. Some patients also exhibit altered thymus
DE   development with T-cell immunodeficiency.
SY   OFC2.
DR   MIM; 615560; phenotype.
DR   MedGen; C3714942.
DR   MedGen; CN182251.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Otopalatodigital syndrome 1.
AC   DI-02113
AR   OPD1.
DE   X-linked dominant multiple congenital anomalies disease mainly
DE   characterized by a generalized skeletal dysplasia, mild intellectual
DE   disability, hearing loss, cleft palate, and typical facial anomalies.
DE   OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-
DE   palato-digital syndrome spectrum disorders that also include OPD2,
DE   Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD).
DE   Remodeling of the cytoskeleton is central to the modulation of cell
DE   shape and migration. FLNA is a widely expressed protein that regulates
DE   re-organization of the actin cytoskeleton by interacting with
DE   integrins, transmembrane receptor complexes and second messengers.
DE   Males with OPD1 have cleft palate, malformations of the ossicles
DE   causing deafness and milder bone and limb defects than those
DE   associated with OPD2. Obligate female carriers of mutations causing
DE   both OPD1 and OPD2 have variable (often milder) expression of a
DE   similar phenotypic spectrum.
DR   MIM; 311300; phenotype.
DR   MedGen; C0265251.
DR   MedGen; C2748918.
DR   MedGen; C2748919.
//
ID   Otopalatodigital syndrome 2.
AC   DI-02114
AR   OPD2.
DE   Congenital bone disorder that is characterized by abnormally modeled,
DE   bowed bones, small or absent first digits and, more variably, cleft
DE   palate, posterior fossa brain anomalies, omphalocele and cardiac
DE   defects.
SY   Cranioorodigital syndrome.
DR   MIM; 304120; phenotype.
DR   MedGen; C1844696.
//
ID   Otospondylomegaepiphyseal dysplasia, autosomal dominant.
AC   DI-01093
AR   OSMEDA.
DE   An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a
DE   disorder characterized by sensorineural deafness, enlarged epiphyses,
DE   mild platyspondyly, and disproportionate shortness of the limbs. Total
DE   body length is normal. Typical facial features are mid-face
DE   hypoplasia, short upturned nose and depressed nasal bridge. Most
DE   patients have Pierre Robin sequence including an opening in the roof
DE   of the mouth (cleft palate) and a small lower jaw (micrognathia).
DE   Ocular symptoms are absent. Some patients have early-onset
DE   osteoarthritis.
SY   Heterozygous OSMED.
SY   Pierre Robin syndrome with fetal chondrodysplasia.
SY   Stickler-like syndrome.
SY   Stickler syndrome 3.
SY   Stickler syndrome non-ocular type.
SY   Stickler syndrome type III.
SY   STL3.
SY   Weissenbacher-Zweymueller syndrome.
SY   WZS.
DR   MIM; 184840; phenotype.
DR   MedGen; C1848488.
DR   MedGen; C1861481.
DR   MeSH; D003240.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Otospondylomegaepiphyseal dysplasia, autosomal recessive.
AC   DI-01254
AR   OSMEDB.
DE   An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a
DE   disorder characterized by sensorineural deafness, enlarged epiphyses,
DE   mild platyspondyly, and disproportionate shortness of the limbs. Total
DE   body length is normal. Typical facial features are mid-face
DE   hypoplasia, short upturned nose and depressed nasal bridge. Most
DE   patients have Pierre Robin sequence including an opening in the roof
DE   of the mouth (cleft palate) and a small lower jaw (micrognathia).
DE   Ocular symptoms are absent. Some patients have early-onset
DE   osteoarthritis.
SY   Chondrodystrophy with sensorineural deafness.
SY   Insley-Astley syndrome.
SY   Nance-Insley syndrome.
SY   Nance-Sweeney chondrodysplasia.
SY   OSMED.
DR   MIM; 215150; phenotype.
DR   MedGen; C0432210.
DR   MedGen; C1855310.
DR   MeSH; D010009.
//
ID   Ovalocytosis, Southeast Asian.
AC   DI-00448
AR   SAO.
DE   An autosomal dominant hematologic disorder characterized by ovalocytic
DE   erythrocytes that are rigid and exhibit reduced expression of many
DE   erythrocyte antigens. Clinical manifestations include mild hemolysis,
DE   intermittent jaundice and gallstones. However, the disorder is most
DE   often asymptomatic.
SY   EL4.
SY   Elliptocytosis, stomatocytic hereditary.
SY   Elliptocytosis 4.
SY   HE, stomatocytic.
SY   Ovalocytosis, Malaysian-Melanesian-Filipino type.
SY   Ovalocytosis, SA type.
DR   MIM; 166900; phenotype.
DR   MedGen; C1833690.
DR   MedGen; C1862322.
DR   MedGen; C1862324.
DR   MedGen; C1862326.
DR   MeSH; D004612.
KW   KW-0250:Elliptocytosis.
//
ID   Ovarian cancer.
AC   DI-01655
AR   OC.
DE   The term ovarian cancer defines malignancies originating from ovarian
DE   tissue. Although many histologic types of ovarian tumors have been
DE   described, epithelial ovarian carcinoma is the most common form.
DE   Ovarian cancers are often asymptomatic and the recognized signs and
DE   symptoms, even of late-stage disease, are vague. Consequently, most
DE   patients are diagnosed with advanced disease.
SY   Epithelial ovarian cancer.
DR   MIM; 167000; phenotype.
DR   MedGen; C0677886.
DR   MedGen; C1140680.
DR   MeSH; D010051.
//
ID   Ovarian dysgenesis 1.
AC   DI-02115
AR   ODG1.
DE   An autosomal recessive disease characterized by primary amenorrhea,
DE   variable development of secondary sex characteristics, poorly
DE   developed streak ovaries, and high serum levels of follicle-
DE   stimulating hormone (FSH) and luteinizing hormone (LH).
SY   Gonadal dysgenesis XX type.
SY   Hypergonadotropic ovarian dysgenesis autosomal recessive.
SY   Hypergonadotropic ovarian dysgenesis with normal karyotype.
SY   Hypergonadotropic ovarian failure.
SY   XXGD.
SY   XX gonadal dysgenesis.
DR   MIM; 233300; phenotype.
DR   MedGen; C0949595.
DR   MedGen; CN074196.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 10.
AC   DI-06394
AR   ODG10.
DE   An autosomal recessive form of ovarian dysgenesis, a disorder
DE   characterized by lack of spontaneous pubertal development, primary
DE   amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as
DE   a result of streak gonads.
DR   MIM; 619834; phenotype.
DR   MedGen; CN308095.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 2.
AC   DI-02116
AR   ODG2.
DE   A disorder characterized by lack of spontaneous pubertal development,
DE   primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE   hypogonadism as a result of streak gonads.
SY   Ovarian failure hypergonadotropic due to ovarian dysgenesis.
SY   X-linked hypergonadotropic ovarian dysgenesis.
DR   MIM; 300510; phenotype.
DR   MedGen; C1845294.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 3.
AC   DI-03287
AR   ODG3.
DE   A disorder characterized by lack of spontaneous pubertal development,
DE   primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE   hypogonadism as a result of streak gonads.
DR   MIM; 614324; phenotype.
DR   MedGen; C3280471.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 4.
AC   DI-04296
AR   ODG4.
DE   A form of ovarian dysgenesis, a disorder characterized by lack of
DE   spontaneous pubertal development, primary amenorrhea, uterine
DE   hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE   gonads. ODG4 is an autosomal recessive condition.
DR   MIM; 616185; phenotype.
DR   MedGen; CN225030.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 5.
AC   DI-05092
AR   ODG5.
DE   A disorder characterized by lack of spontaneous pubertal development,
DE   primary amenorrhea, uterine hypoplasia, and hypergonadotropic
DE   hypogonadism as a result of streak gonads. ODG5 is an autosomal
DE   recessive condition.
DR   MIM; 617690; phenotype.
DR   MedGen; CN492436.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 6.
AC   DI-05300
AR   ODG6.
DE   A form of ovarian dysgenesis, a disorder characterized by lack of
DE   spontaneous pubertal development, primary amenorrhea, uterine
DE   hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE   gonads. ODG6 is an autosomal recessive condition.
DR   MIM; 618078; phenotype.
DR   MedGen; CN252687.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 7.
AC   DI-05334
AR   ODG7.
DE   A form of ovarian dysgenesis, a disorder characterized by lack of
DE   spontaneous pubertal development, primary amenorrhea, uterine
DE   hypoplasia, and hypergonadotropic hypogonadism as a result of streak
DE   gonads. ODG7 is an autosomal recessive condition.
DR   MIM; 618117; phenotype.
DR   MedGen; CN253833.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 8.
AC   DI-05386
AR   ODG8.
DE   An autosomal dominant form of ovarian dysgenesis, a disorder
DE   characterized by lack of spontaneous pubertal development, primary
DE   amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as
DE   a result of streak gonads.
DR   MIM; 618187; phenotype.
DR   MedGen; CN257790.
DR   MeSH; D023961.
//
ID   Ovarian dysgenesis 9.
AC   DI-06295
AR   ODG9.
DE   An autosomal recessive form of ovarian dysgenesis, a disorder
DE   characterized by lack of spontaneous pubertal development, primary
DE   amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as
DE   a result of streak gonads.
DR   MIM; 619665; phenotype.
DR   MedGen; CN305248.
DR   MeSH; D023961.
//
ID   Ovarian hyperstimulation syndrome.
AC   DI-02117
AR   OHSS.
DE   Disorder which occurs either spontaneously or most often as an
DE   iatrogenic complication of ovarian stimulation treatments for in vitro
DE   fertilization. The clinical manifestations vary from abdominal
DE   distention and discomfort to potentially life-threatening, massive
DE   ovarian enlargement and capillary leak with fluid sequestration.
DE   Pathologic features of this syndrome include the presence of multiple
DE   serous and hemorrhagic follicular cysts lined by luteinized cells, a
DE   condition called hyperreactio luteinalis.
DR   MIM; 608115; phenotype.
DR   MedGen; C0085083.
//
ID   Overhydrated hereditary stomatocytosis.
AC   DI-04608
AR   OHST.
DE   An autosomal dominant disorder of red cell membrane permeability to
DE   monovalent cations, characterized by macrocytic hemolytic anemia of
DE   fluctuating severity, circulating erythrocytes with slit-like
DE   lucencies (stomata) evident on fixed, stained peripheral blood smears.
DE   OHST red cells exhibit cation leak, resulting in elevated cell sodium
DE   content with reduced potassium content. The disease is marked by
DE   splenomegaly or hepatosplenomegaly, cholelithiasis and a strong
DE   tendency for iron overload.
SY   Hereditary, overhydrated, cation-leak stomatocytosis.
SY   OHS.
SY   Overhydrated cation leak stomatocytosis.
SY   Potassium sodium disorder of erythrocyte.
DR   MIM; 185000; phenotype.
DR   MedGen; C1861455.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Overlap connective tissue disease.
AC   DI-01941
AR   OCTD.
DE   Heritable disorder of connective tissue characterized by involvement
DE   of the mitral valve, aorta, skeleton, and skin. MASS syndrome is
DE   closely resembling both the Marfan syndrome and the Barlow syndrome.
DE   However, no dislocation of the lenses or aneurysmal changes occur in
DE   the aorta, and the mitral valve prolapse is by no means invariable.
SY   MASS syndrome.
DR   MIM; 604308; phenotype.
DR   MedGen; C1858556.
//
ID   P5N deficiency.
AC   DI-02118
AR   P5ND.
DE   Autosomal recessive condition causing hemolytic anemia characterized
DE   by marked basophilic stippling and the accumulation of high
DE   concentrations of pyrimidine nucleotides within the erythrocyte. It is
DE   implicated in the anemia of lead poisoning and is possibly associated
DE   with learning difficulties.
SY   Hemolytic anemia due to P5N deficiency.
SY   Hemolytic anemia due to UMPH1 deficiency.
DR   MIM; 266120; phenotype.
DR   MedGen; C1849507.
//
ID   Pachyonychia congenita 1.
AC   DI-00891
AR   PC1.
DE   An autosomal dominant ectodermal dysplasia characterized by
DE   hypertrophic nail dystrophy resulting in onchyogryposis (thickening
DE   and increase in curvature of the nail), palmoplantar keratoderma,
DE   follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of
DE   the hands and feet is usually present.
SY   Jadassohn-Lewandowsky syndrome.
SY   Pachyonychia congenita Jadassohn-Lewandowsky type.
DR   MIM; 167200; phenotype.
DR   MedGen; C1706595.
DR   MeSH; D053549.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Pachyonychia congenita 2.
AC   DI-00892
AR   PC2.
DE   An autosomal dominant ectodermal dysplasia characterized by
DE   hypertrophic nail dystrophy resulting in onchyogryposis (thickening
DE   and increase in curvature of the nail), palmoplantar keratoderma and
DE   hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts,
DE   absent/sparse eyebrow and body hair, and by the presence of natal
DE   teeth.
SY   Pachyonychia congenita Jackson-Lawler type.
DR   MIM; 167210; phenotype.
DR   MedGen; C1721007.
DR   MeSH; D053549.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Pachyonychia congenita 3.
AC   DI-04094
AR   PC3.
DE   An autosomal dominant genodermatosis characterized by hypertrophic
DE   nail dystrophy, painful and highly debilitating plantar keratoderma,
DE   oral leukokeratosis, and a variety of epidermal cysts.
DR   MIM; 615726; phenotype.
DR   MedGen; C3714948.
DR   MedGen; CN185878.
DR   MeSH; D053549.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Pachyonychia congenita 4.
AC   DI-04095
AR   PC4.
DE   An autosomal dominant genodermatosis characterized by hypertrophic
DE   nail dystrophy, painful and highly debilitating plantar keratoderma,
DE   oral leukokeratosis, and a variety of epidermal cysts.
DR   MIM; 615728; phenotype.
DR   MedGen; C3714949.
DR   MedGen; CN185879.
DR   MeSH; D053549.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Paganini-Miozzo syndrome.
AC   DI-05579
AR   MRXSPM.
DE   An X-linked, syndromic, neurodevelopmental disorder characterized by
DE   intellectual disability, global developmental delay, severe myopia,
DE   and mild facial dysmorphism.
SY   HS6ST2-CDG.
DR   MIM; 301025; phenotype.
DR   MedGen; CN258821.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Paget disease of bone 2, early-onset.
AC   DI-02120
AR   PDB2.
DE   A form of Paget disease, a disorder of bone remodeling characterized
DE   by increased bone turnover affecting one or more sites throughout the
DE   skeleton, primarily the axial skeleton. Osteoclastic overactivity
DE   followed by compensatory osteoblastic activity leads to a structurally
DE   disorganized mosaic of bone (woven bone), which is mechanically
DE   weaker, larger, less compact, more vascular, and more susceptible to
DE   fracture than normal adult lamellar bone.
DR   MIM; 602080; phenotype.
DR   MedGen; C0029401.
DR   MeSH; D010001.
//
ID   Paget disease of bone 3.
AC   DI-04539
AR   PDB3.
DE   A disorder of bone remodeling characterized by increased bone turnover
DE   affecting one or more sites throughout the skeleton, primarily the
DE   axial skeleton. Osteoclastic overactivity followed by compensatory
DE   osteoblastic activity leads to a structurally disorganized mosaic of
DE   bone (woven bone), which is mechanically weaker, larger, less compact,
DE   more vascular, and more susceptible to fracture than normal adult
DE   lamellar bone.
SY   Osteitis Deformans.
DR   MIM; 167250; phenotype.
DR   MedGen; CN032130.
DR   MeSH; D010001.
//
ID   Paget disease of bone 5, juvenile-onset.
AC   DI-01852
AR   PDB5.
DE   An autosomal recessive, juvenile-onset form of Paget disease, a
DE   disorder of bone remodeling characterized by increased bone turnover
DE   affecting one or more sites throughout the skeleton, primarily the
DE   axial skeleton. Osteoclastic overactivity followed by compensatory
DE   osteoblastic activity leads to a structurally disorganized mosaic of
DE   bone (woven bone), which is mechanically weaker, larger, less compact,
DE   more vascular, and more susceptible to fracture than normal adult
DE   lamellar bone. PDB5 clinical manifestations include short stature,
DE   progressive long bone deformities, fractures, vertebral collapse,
DE   skull enlargement, and hyperostosis with progressive deafness.
SY   Chronic congenital idiopathic hyperphosphatasia.
SY   Hereditary hyperphosphatasia.
SY   Hyperostosis corticalis deformans juvenilis.
SY   JPD.
SY   Juvenile Paget disease.
SY   Osteoectasia, familial.
DR   MIM; 239000; phenotype.
DR   MedGen; C0268414.
DR   MeSH; D010001.
//
ID   Paget disease of bone 6.
AC   DI-04662
AR   PDB6.
DE   An autosomal dominant form of Paget disease, a disorder of bone
DE   remodeling characterized by increased bone turnover affecting one or
DE   more sites throughout the skeleton, primarily the axial skeleton.
DE   Osteoclastic overactivity followed by compensatory osteoblastic
DE   activity leads to a structurally disorganized mosaic of bone (woven
DE   bone), which is mechanically weaker, larger, less compact, more
DE   vascular, and more susceptible to fracture than normal adult lamellar
DE   bone. PDB6 is characterized by adult onset of bone pain associated
DE   with polyostotic bone lesions primarily affecting the axial skeleton.
DE   In some cases, the pagetic tissue undergoes neoplastic transformation,
DE   resulting in osteosarcoma and, less frequently, in giant cell tumor of
DE   bone.
DR   MIM; 616833; phenotype.
DR   MedGen; CN235346.
DR   MeSH; D010001.
//
ID   Pallister-Hall syndrome.
AC   DI-02122
AR   PHS.
DE   An autosomal dominant disorder characterized by a wide range of
DE   clinical manifestations. Clinical features include hypothalamic
DE   hamartoma, pituitary dysfunction, central or postaxial polydactyly,
DE   and syndactyly. Malformations are frequent in the viscera, e.g. anal
DE   atresia, bifid uvula, congenital heart malformations, pulmonary or
DE   renal dysplasia.
SY   Hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly.
DR   MIM; 146510; phenotype.
DR   MedGen; C0265220.
DR   MeSH; D054975.
//
ID   Pallister-Hall-like syndrome.
AC   DI-05902
AR   PHLS.
DE   An autosomal recessive disorder characterized by a wide phenotypic
DE   spectrum of developmental anomalies affecting the brain, heart,
DE   skeleton and enteric nervous system. Clinical features include
DE   hypothalamic hamartoma, microcephaly, atrioventricular septal defect,
DE   postaxial polydactyly, narrow chest, shortening of long bones, and
DE   aganglionosis.
SY   Hamartoma of hypothalamus.
SY   Hypothalamic hamartomas.
DR   MIM; 241800; phenotype.
DR   MedGen; C0342418.
DR   MeSH; D054975.
//
ID   Palmoplantar carcinoma, multiple self-healing.
AC   DI-03762
AR   MSPC.
DE   An autosomal dominant disease characterized by keratopathy with
DE   neovascularization, bilateral corneal opacification, palmoplantar
DE   hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent
DE   keratoacanthomas in palmoplantar skin as well as in conjunctival and
DE   corneal epithelia. In addition, patients experience a high
DE   susceptibility to malignant squamous cell carcinoma.
SY   CIDED.
SY   Corneal intraepithelial dyskeratosis and ectodermal dysplasia.
DR   MIM; 615225; phenotype.
DR   MedGen; C3808876.
DR   MedGen; CN169519.
DR   MeSH; D003316.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Palmoplantar keratoderma 1, striate, focal, or diffuse.
AC   DI-00895
AR   PPKS1.
DE   A dermatological disorder characterized by thickening of the skin on
DE   the palms and soles, and longitudinal hyperkeratotic lesions on the
DE   palms, running the length of each finger.
SY   Keratoderma, palmoplantar, striate form I.
SY   Keratosis palmoplantaris striata I.
SY   KPPS1.
SY   SPPK1.
SY   Striate palmoplantar keratoderma I.
DR   MIM; 148700; phenotype.
DR   MedGen; C1835661.
DR   MedGen; C2931122.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Palmoplantar keratoderma and congenital alopecia 1.
AC   DI-04540
AR   PPKCA1.
DE   A rare autosomal dominant disorder characterized by severe
DE   hyperkeratosis of the palms and soles, and congenital hypotrichosis or
DE   alopecia. Dystrophic nail changes occur in some patients.
SY   Keratoderma-hypotrichosis-leukonychia totalis syndrome.
SY   PPKCA, Stevanovic type.
DR   MIM; 104100; phenotype.
DR   MedGen; C1863093.
DR   MedGen; C3151468.
DR   MeSH; D000505.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
KW   KW-1063:Hypotrichosis.
//
ID   Palmoplantar keratoderma and woolly hair.
AC   DI-04260
AR   PPKWH.
DE   A disorder characterized by abnormal thickening of the skin on the
DE   palms and soles, in association with woolly scalp hair. Affected
DE   individuals manifest a variable degree of striate palmoplantar
DE   keratoderma, generally more severe on the soles. Leukonychia is more
DE   pronounced on the fingernails than toenails. Scalp hair, body hair,
DE   eyebrows, and eyelashes are sparse. The fifth toes show variable
DE   degrees of pseudoainhum, ranging from external rotation to a deep
DE   sulcus at the digitoplantar fold, accompanied by a bulbous appearance
DE   of the distal toe.
DR   MIM; 616099; phenotype.
DR   MedGen; CN221807.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Palmoplantar keratoderma, epidermolytic, 1.
AC   DI-00893
AR   EPPK1.
DE   A form of epidermolytic palmoplantar keratoderma, a dermatological
DE   disorder characterized by diffuse thickening of the epidermis on the
DE   entire surface of palms and soles sharply bordered with erythematous
DE   margins. Some patients may present knuckle pads, thick pads of skin
DE   appearing over the proximal phalangeal joints. EPPK1 inheritance is
DE   autosomal dominant.
SY   EHPPK.
SY   Epidermolytic Unna-Thost disease.
SY   Keratosis of Greither.
SY   Keratosis palmaris et plantaris familiaris.
SY   Localized epidermolytic hyperkeratosis.
SY   Palmoplantar keratoderma, epidermolytic, with knuckle pads.
SY   Palmoplantar keratoderma, Vorner type.
SY   PPKE.
SY   Tylosis.
DR   MIM; 144200; phenotype.
DR   MedGen; C1721006.
DR   MedGen; C1840427.
DR   MedGen; C2931735.
DR   MedGen; C2936837.
DR   MedGen; C3489771.
DR   MedGen; C3489794.
DR   MeSH; D053546.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Palmoplantar keratoderma, epidermolytic, 2.
AC   DI-06700
AR   EPPK2.
DE   A form of epidermolytic palmoplantar keratoderma, a dermatological
DE   disorder characterized by diffuse thickening of the epidermis on the
DE   entire surface of palms and soles sharply bordered with erythematous
DE   margins. Some patients may present knuckle pads, thick pads of skin
DE   appearing over the proximal phalangeal joints. EPPK2 is an autosomal
DE   dominant form in which hyperkeratosis is restricted to palms and soles
DE   and is apparent from birth or childhood.
DR   MIM; 620411; phenotype.
DR   MedGen; CN372185.
DR   MeSH; D053546.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Palmoplantar keratoderma, non-epidermolytic, focal 2.
AC   DI-04445
AR   FNEPPK2.
DE   A dermatological disorder characterized by non-epidermolytic, abnormal
DE   thickening of the skin on the palms and soles. Focal palmoplantar
DE   keratoderma consists of localized areas of hyperkeratosis located
DE   mainly on pressure points and sites of recurrent friction.
DR   MIM; 616400; phenotype.
DR   MedGen; CN231148.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Palmoplantar keratoderma, non-epidermolytic, focal or diffuse.
AC   DI-04096
AR   PPKNEFD.
DE   A dermatological disorder characterized by non-epidermolytic abnormal
DE   thickening of the skin on the palms and soles. Diffuse palmoplantar
DE   keratoderma is characterized by uniform involvement of the
DE   palmoplantar surface, while the focal form consists of localized areas
DE   of hyperkeratosis located mainly on pressure points and sites of
DE   recurrent friction.
SY   Nonepidermolytic focal or diffuse palmoplantar keratoderma.
DR   MIM; 615735; phenotype.
DR   MedGen; C3810394.
DR   MedGen; CN185877.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Pancreatic agenesis 1.
AC   DI-02123
AR   PAGEN1.
DE   A disease characterized by isolated hypoplasia or agenesis of the
DE   pancreas, pancreatic beta-cell failure resulting in neonatal insulin-
DE   dependent diabetes mellitus, and exocrine pancreatic insufficiency.
SY   Congenital pancreatic hypoplasia.
SY   PAGEN.
DR   MIM; 260370; phenotype.
DR   MedGen; C1850096.
DR   MeSH; D010182.
KW   KW-0219:Diabetes mellitus.
//
ID   Pancreatic agenesis 2.
AC   DI-04182
AR   PAGEN2.
DE   A disease characterized by isolated hypoplasia or agenesis of the
DE   pancreas, pancreatic beta-cell failure resulting in neonatal insulin-
DE   dependent diabetes mellitus, and exocrine pancreatic insufficiency.
SY   Congenital pancreatic hypoplasia 2.
DR   MIM; 615935; phenotype.
DR   MedGen; CN207621.
DR   MeSH; D003920.
DR   MeSH; D010188.
KW   KW-0219:Diabetes mellitus.
//
ID   Pancreatic agenesis and congenital heart defects.
AC   DI-03371
AR   PACHD.
DE   An autosomal dominant disease characterized by pancreatic severe
DE   hypoplasia or agenesis, diabetes mellitus, and congenital heart
DE   abnormalities including ventricular septal defect, patent ductus
DE   arteriosus, pulmonary artery stenosis, truncus arteriosus and
DE   tetralogy of Fallot.
SY   Congenital pancreatic agenesis with diabetes mellitus and congenital heart disease.
SY   HDCA.
SY   Heart defects, congenital, and other congenital anomalies.
DR   MIM; 600001; phenotype.
DR   MedGen; C1838780.
DR   MeSH; D003920.
DR   MeSH; D006330.
//
ID   Pancreatic and cerebellar agenesis.
AC   DI-01484
AR   PACA.
DE   A disease characterized by neonatal diabetes mellitus, cerebellar
DE   agenesis or hypoplasia, severe intrauterine growth retardation, the
DE   presence of very little subcutaneous fat, and dysmorphic facial
DE   features.
SY   Diabetes mellitus and cerebellar hypoplasia/agenesis.
SY   Permanent neonatal diabetes mellitus with cerebellar agenesis.
DR   MIM; 609069; phenotype.
DR   MedGen; C1836780.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
//
ID   Pancreatic cancer.
AC   DI-02124
AR   PNCA.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
SY   Pancreatic acinar carcinoma.
SY   Pancreatic carcinoma.
DR   MIM; 260350; phenotype.
DR   MedGen; C0235974.
DR   MeSH; D010190.
//
ID   Pancreatic cancer 1.
AC   DI-02849
AR   PNCA1.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
DR   MIM; 606856; phenotype.
DR   MedGen; C1847351.
DR   MeSH; D010190.
//
ID   Pancreatic cancer 2.
AC   DI-02847
AR   PNCA2.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
DR   MIM; 613347; phenotype.
DR   MedGen; C3150546.
DR   MeSH; D010190.
//
ID   Pancreatic cancer 3.
AC   DI-02848
AR   PNCA3.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
DR   MIM; 613348; phenotype.
DR   MedGen; C3150547.
DR   MeSH; D010190.
//
ID   Pancreatic cancer 4.
AC   DI-03281
AR   PNCA4.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
DR   MIM; 614320; phenotype.
DR   MedGen; C3280442.
DR   MedGen; CN071477.
DR   MeSH; D010190.
//
ID   Pancreatic cancer 5.
AC   DI-05686
AR   PNCA5.
DE   A malignant neoplasm of the pancreas. Tumors can arise from both the
DE   exocrine and endocrine portions of the pancreas, but 95% of them
DE   develop from the exocrine portion, including the ductal epithelium,
DE   acinar cells, connective tissue, and lymphatic tissue.
DR   MIM; 618680; phenotype.
DR   MedGen; CN262920.
DR   MeSH; D010190.
//
ID   Pancreatic lipase deficiency.
AC   DI-05008
AR   PNLIPD.
DE   An autosomal recessive disorder characterized by exocrine pancreatic
DE   failure. Clinical findings include oily/greasy stools from infancy or
DE   early childhood, absence of discernible pancreatic disease, and
DE   significantly decreased pancreatic lipolytic activity.
SY   Congenital absence of pancreatic lipase.
SY   PL deficiency.
DR   MIM; 614338; phenotype.
DR   MedGen; C3280527.
DR   MeSH; D008052.
//
ID   Pancreatitis, hereditary.
AC   DI-01731
AR   PCTT.
DE   A disease characterized by pancreas inflammation, permanent
DE   destruction of the pancreatic parenchyma, maldigestion, and severe
DE   abdominal pain attacks.
SY   Chronic pancreatitis.
SY   CP.
SY   HP.
SY   HPC.
DR   MIM; 167800; phenotype.
DR   MedGen; C0238339.
DR   MedGen; C1832108.
DR   MedGen; C1868653.
DR   MedGen; C1969419.
DR   MeSH; D010195.
//
ID   Panhypopituitarism X-linked.
AC   DI-02125
AR   PHPX.
DE   Affected individuals have absent infundibulum, anterior pituitary
DE   hypoplasia, and ectopic posterior pituitary.
DR   MIM; 312000; phenotype.
DR   MedGen; C0342376.
//
ID   PAPA syndrome.
AC   DI-02127
AR   PAPAS.
DE   Characterized by autosomal dominant inheritance of early-onset,
DE   primarily affecting skin and joint tissues. Recurring inflammatory
DE   episodes lead to accumulation of sterile, pyogenic, neutrophil-rich
DE   material within the affected joints, ultimately resulting in
DE   significant destruction.
SY   Familial recurrent arthritis.
SY   FRA.
SY   Pyogenic sterile arthritis, pyoderma gangrenosum and acne.
DR   MIM; 604416; phenotype.
DR   MedGen; C1858361.
//
ID   Papilloma of choroid plexus.
AC   DI-01346
AR   CPP.
DE   A benign tumor of neuroectodermal origin that generally occurs in
DE   childhood, but has also been reported in adults. Although generally
DE   found within the ventricular system, choroid plexus papillomas can
DE   arise ectopically in the brain parenchyma or disseminate throughout
DE   the neuraxis. Patients present with signs and symptoms of increased
DE   intracranial pressure including headache, hydrocephalus, papilledema,
DE   nausea, vomiting, cranial nerve deficits, gait impairment, and
DE   seizures.
SY   Choroid plexus papilloma.
DR   MIM; 260500; phenotype.
DR   MedGen; C0205770.
DR   MedGen; C0431109.
DR   MeSH; D020288.
//
ID   Papillon-Lefevre syndrome.
AC   DI-00900
AR   PLS.
DE   An autosomal recessive disorder characterized by palmoplantar
DE   keratosis and severe periodontitis affecting deciduous and permanent
DE   dentitions and resulting in premature tooth loss. The palmoplantar
DE   keratotic phenotype vary from mild psoriasiform scaly skin to overt
DE   hyperkeratosis. Keratosis also affects other sites such as elbows and
DE   knees.
SY   Keratosis palmoplantaris with periodontopathia.
SY   PALS.
DR   MIM; 245000; phenotype.
DR   MedGen; C0030360.
DR   MeSH; D010214.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Papillorenal syndrome.
AC   DI-02258
AR   PAPRS.
DE   An autosomal dominant disorder characterized by both ocular and renal
DE   anomalies, but may also include vesicoureteral reflux, high frequency
DE   hearing loss, central nervous system anomalies, and/or genital
DE   anomalies. Eye anomalies in this disorder consist of a wide and
DE   sometimes excavated dysplastic optic disk with the emergence of the
DE   retinal vessels from the periphery of the disk, designated optic nerve
DE   coloboma or 'morning glory' anomaly. Associated findings may include a
DE   small corneal diameter, retinal coloboma, scleral staphyloma, optic
DE   nerve cyst, microphthalmia, and pigmentary macular dysplasia. The
DE   kidneys are small and abnormally formed (renal hypodysplasia), and
DE   have fewer than the normal number of glomeruli, which are enlarged
DE   (oligomeganephronia). These ocular and renal anomalies result in
DE   decreased visual acuity and retinal detachment, as well as
DE   hypertension, proteinuria, and renal insufficiency that frequently
DE   progresses to end-stage renal disease.
SY   CAKUT with or without ocular abnormalities.
SY   Coloboma of optic nerve with renal disease.
SY   Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities.
SY   Optic coloboma vesicoureteral reflux and renal anomalies.
SY   Optic nerve coloboma with renal disease.
SY   Renal-coloboma syndrome.
SY   Renal-coloboma syndrome with macular abnormalities.
DR   MIM; 120330; phenotype.
DR   MedGen; C1852759.
DR   MeSH; D003103.
DR   MeSH; D014718.
DR   MeSH; D051437.
//
ID   Paraganglioma and gastric stromal sarcoma.
AC   DI-02128
AR   PGGSS.
DE   Gastrointestinal stromal tumors may be sporadic or inherited in an
DE   autosomal dominant manner, alone or as a component of a syndrome
DE   associated with other tumors, such as in the context of
DE   neurofibromatosis type 1 (NF1). Patients have both gastrointestinal
DE   stromal tumors and paragangliomas. Susceptibility to the tumors was
DE   inherited in an apparently autosomal dominant manner, with incomplete
DE   penetrance.
SY   Carney-Stratakis syndrome.
SY   Paraganglioma and gastrointestinal stromal tumor.
DR   MIM; 606864; phenotype.
DR   MedGen; C1847319.
//
ID   Paramyotonia congenita.
AC   DI-00901
AR   PMC.
DE   An autosomal dominant channelopathy characterized by myotonia,
DE   increased by exposure to cold, intermittent flaccid paresis, not
DE   necessarily dependent on cold or myotonia, lability of serum
DE   potassium, non-progressive nature and lack of atrophy or hypertrophy
DE   of muscles. In some patients, myotonia is not increased by cold
DE   exposure (paramyotonia without cold paralysis). Patients may have a
DE   combination phenotype of PMC and HYPP.
SY   Paralysis periodica paramyotonia.
SY   Paralysis periodica paramyotonica.
SY   Paramyotonia congenita of von Eulenburg.
SY   Paramyotonia congenita without cold paralysis.
DR   MIM; 168300; phenotype.
DR   MedGen; C0221055.
DR   MedGen; C1868617.
DR   MedGen; C1868618.
DR   MedGen; C1868619.
DR   MeSH; D020967.
//
ID   Parastremmatic dwarfism.
AC   DI-02970
AR   PSTD.
DE   A bone dysplasia characterized by severe dwarfism, kyphoscoliosis,
DE   distortion and bowing of the extremities, and contractures of the
DE   large joints. Radiographically, the disease is characterized by a
DE   combination of decreased bone density, bowing of the long bones,
DE   platyspondyly and striking irregularities of endochondral ossification
DE   with areas of calcific stippling and streaking in radiolucent
DE   epiphyses, metaphyses and apophyses.
DR   MIM; 168400; phenotype.
DR   MedGen; C1868616.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Parathyroid carcinoma.
AC   DI-02129
AR   PRTC.
DE   These cancers characteristically result in more profound clinical
DE   manifestations of hyperparathyroidism than do parathyroid adenomas,
DE   the most frequent cause of primary hyperparathyroidism. Early en bloc
DE   resection of the primary tumor is the only curative treatment.
DR   MIM; 608266; phenotype.
DR   MedGen; C0687150.
//
ID   Parenti-Mignot neurodevelopmental syndrome.
AC   DI-06423
AR   PMNDS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   intellectual disability, speech delay, motor delay, behavioral
DE   problems, and epilepsy.
DR   MIM; 619873; phenotype.
DR   MedGen; CN312032.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Parietal foramina 1.
AC   DI-02130
AR   PFM1.
DE   Autosomal dominant disease characterized by oval defects of the
DE   parietal bones caused by deficient ossification around the parietal
DE   notch, which is normally obliterated during the fifth fetal month.
SY   Catlin marks.
SY   Cranium bifidum, hereditary.
SY   Cranium bifidum occultum.
SY   Enlarged parietal foramina.
SY   Foramina parietalia permagna.
SY   FPP.
SY   Parietal foramina, symmetric.
SY   PFM.
DR   MIM; 168500; phenotype.
DR   MedGen; C1868598.
DR   MedGen; C1868599.
DR   MeSH; D004677.
//
ID   Parietal foramina 2.
AC   DI-02131
AR   PFM2.
DE   Autosomal dominant disease characterized by oval defects of the
DE   parietal bones caused by deficient ossification around the parietal
DE   notch, which is normally obliterated during the fifth fetal month.
DE   PFM2 is also a clinical feature of Potocki-Shaffer syndrome.
SY   Foramina parietalia permagna.
SY   FPP.
DR   MIM; 609597; phenotype.
DR   MedGen; C1865044.
//
ID   Parietal foramina with cleidocranial dysplasia.
AC   DI-02132
AR   PFMCCD.
DE   Combines skull defects in the form of enlarged parietal foramina and
DE   deficient ossification of the clavicles.
SY   Cleidocranial dysplasia with parietal foramina.
DR   MIM; 168550; phenotype.
DR   MedGen; C1868597.
//
ID   Parkinson disease.
AC   DI-02134
AR   PARK.
DE   A complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability. Additional
DE   features are characteristic postural abnormalities, dysautonomia,
DE   dystonic cramps, and dementia. The pathology of Parkinson disease
DE   involves the loss of dopaminergic neurons in the substantia nigra and
DE   the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE   proteins), in surviving neurons in various areas of the brain. The
DE   disease is progressive and usually manifests after the age of 50
DE   years, although early-onset cases (before 50 years) are known. The
DE   majority of the cases are sporadic suggesting a multifactorial
DE   etiology based on environmental and genetic factors. However, some
DE   patients present with a positive family history for the disease.
DE   Familial forms of the disease usually begin at earlier ages and are
DE   associated with atypical clinical features.
SY   Idiopathic Parkinson disease.
SY   Late onset Parkinson disease.
SY   Lewy body Parkinson disease.
SY   Paralysis Agitans.
SY   PD.
SY   Primary Parkinsonism.
DR   MIM; 168600; phenotype.
DR   MedGen; C0030567.
DR   MedGen; C3160718.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 1, autosomal dominant.
AC   DI-01223
AR   PARK1.
DE   A complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability. Additional
DE   features are characteristic postural abnormalities, dysautonomia,
DE   dystonic cramps, and dementia. The pathology of Parkinson disease
DE   involves the loss of dopaminergic neurons in the substantia nigra and
DE   the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE   proteins), in surviving neurons in various areas of the brain. The
DE   disease is progressive and usually manifests after the age of 50
DE   years, although early-onset cases (before 50 years) are known. The
DE   majority of the cases are sporadic suggesting a multifactorial
DE   etiology based on environmental and genetic factors. However, some
DE   patients present with a positive family history for the disease.
DE   Familial forms of the disease usually begin at earlier ages and are
DE   associated with atypical clinical features.
SY   Atypical parkinson disease.
SY   Lewy body parkinsonism.
SY   Parkinson disease autosomal dominant 1.
SY   Parkinson disease familial type 1.
DR   MIM; 168601; phenotype.
DR   MedGen; C1868595.
DR   MedGen; C1868596.
DR   MedGen; C3149705.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 11.
AC   DI-02137
AR   PARK11.
DE   A complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability, as well as
DE   by a clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain.
SY   Parkinson disease 11, autosomal dominant, susceptibility to.
DR   MIM; 607688; phenotype.
DR   MedGen; C1843211.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 13.
AC   DI-02138
AR   PARK13.
DE   A complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability, as well as
DE   by a clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain.
DR   MIM; 610297; phenotype.
DR   MedGen; C1853202.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 14.
AC   DI-02500
AR   PARK14.
DE   An adult-onset progressive neurodegenerative disorder characterized by
DE   parkinsonism, dystonia, severe cognitive decline, cerebral and
DE   cerebellar atrophy and absent iron in the basal ganglia on magnetic
DE   resonance imaging.
SY   Dystonia-parkinsonism adult-onset.
SY   Dystonia-parkinsonism Paisan-Ruiz type.
SY   Parkinson disease 14 autosomal recessive.
DR   MIM; 612953; phenotype.
DR   MedGen; C2751842.
DR   MeSH; D004421.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Parkinson disease 15.
AC   DI-02139
AR   PARK15.
DE   A neurodegenerative disorder characterized by parkinsonian and
DE   pyramidal signs. Clinical manifestations include tremor, bradykinesia,
DE   rigidity, postural instability, spasticity, mainly in the lower limbs,
DE   and hyperreflexia.
SY   Pallidopyramidal syndrome.
SY   Pallido-pyramidal syndrome.
SY   Parkinson disease 15 autosomal recessive.
SY   Parkinsonian-pyramidal syndrome.
SY   PKPS.
SY   PPS.
DR   MIM; 260300; phenotype.
DR   MedGen; C1850100.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 17.
AC   DI-03242
AR   PARK17.
DE   An autosomal dominant, adult-onset form of Parkinson disease.
DE   Parkinson disease is a complex neurodegenerative disorder
DE   characterized by bradykinesia, resting tremor, muscular rigidity and
DE   postural instability, as well as by a clinically significant response
DE   to treatment with levodopa. The pathology involves the loss of
DE   dopaminergic neurons in the substantia nigra and the presence of Lewy
DE   bodies (intraneuronal accumulations of aggregated proteins), in
DE   surviving neurons in various areas of the brain.
DR   MIM; 614203; phenotype.
DR   MedGen; C3280133.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 18.
AC   DI-03274
AR   PARK18.
DE   An autosomal dominant, late-onset form of Parkinson disease. Parkinson
DE   disease is a complex neurodegenerative disorder characterized by
DE   bradykinesia, resting tremor, muscular rigidity and postural
DE   instability, as well as by a clinically significant response to
DE   treatment with levodopa. The pathology involves the loss of
DE   dopaminergic neurons in the substantia nigra and the presence of Lewy
DE   bodies (intraneuronal accumulations of aggregated proteins), in
DE   surviving neurons in various areas of the brain.
SY   Parkinson disease 18, autosomal dominant, susceptibility to.
SY   Parkinson disease 18 autosomal dominant.
DR   MIM; 614251; phenotype.
DR   MedGen; C3280271.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 19A, juvenile-onset.
AC   DI-03961
AR   PARK19A.
DE   A juvenile form of Parkinson disease, a complex neurodegenerative
DE   disorder characterized by bradykinesia, resting tremor, muscular
DE   rigidity and postural instability, as well as by a clinically
DE   significant response to treatment with levodopa. The pathology
DE   involves the loss of dopaminergic neurons in the substantia nigra and
DE   the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE   proteins), in surviving neurons in various areas of the brain. PARK19A
DE   is characterized by onset of parkinsonian symptoms in the first or
DE   second decade of life. Some patients may have additional neurologic
DE   features, including intellectual disability and seizures.
SY   PARK19.
DR   MIM; 615528; phenotype.
DR   MedGen; C3809811.
DR   MedGen; CN181757.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 19B, early-onset.
AC   DI-04813
AR   PARK19B.
DE   An early-onset form of Parkinson disease, a complex neurodegenerative
DE   disorder characterized by bradykinesia, resting tremor, muscular
DE   rigidity and postural instability, as well as by a clinically
DE   significant response to treatment with levodopa. The pathology
DE   involves the loss of dopaminergic neurons in the substantia nigra and
DE   the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE   proteins), in surviving neurons in various areas of the brain. PARK19B
DE   is characterized by symptoms onset in the third-to-fifth decade, slow
DE   disease progression, and prominent. response to dopaminergic
DE   therapies. Inheritance is autosomal recessive.
DR   MIM; 615528; phenotype.
DR   MedGen; C3809811.
DR   MedGen; CN181757.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 2.
AC   DI-01238
AR   PARK2.
DE   A neurodegenerative disorder characterized by bradykinesia, rigidity,
DE   postural instability, tremor, and onset usually before 40. It differs
DE   from classic Parkinson disease by early DOPA-induced dyskinesia,
DE   diurnal fluctuation of the symptoms, sleep benefit, dystonia and
DE   hyper-reflexia. Dementia is absent. Pathologically, patients show loss
DE   of dopaminergic neurons in the substantia nigra, similar to that seen
DE   in Parkinson disease; however, Lewy bodies (intraneuronal
DE   accumulations of aggregated proteins) are absent.
SY   Autosomal recessive early-onset Parkinson disease type 2.
SY   Autosomal recessive juvenile Parkinson disease.
SY   Chromosome 6-linked autosomal recessive parkinsonism.
SY   Early-onset parkinsonism with diurnal fluctuation.
SY   EPDF.
SY   Parkinsonism young adult onset.
SY   PDJ.
DR   MIM; 600116; phenotype.
DR   MedGen; C1868675.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 20, early-onset.
AC   DI-03964
AR   PARK20.
DE   An early-onset form of Parkinson disease, a complex neurodegenerative
DE   disorder characterized by bradykinesia, resting tremor, muscular
DE   rigidity and postural instability, as well as by a clinically
DE   significant response to treatment with levodopa. The pathology
DE   involves the loss of dopaminergic neurons in the substantia nigra and
DE   the presence of Lewy bodies (intraneuronal accumulations of aggregated
DE   proteins), in surviving neurons in various areas of the brain. PARK20
DE   is characterized by young adult-onset of parkinsonism. Additional
DE   features may include seizures, cognitive decline, abnormal eye
DE   movements, and dystonia.
DR   MIM; 615530; phenotype.
DR   MedGen; C3809824.
DR   MedGen; CN181760.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 21.
AC   DI-04425
AR   PARK21.
DE   An autosomal dominant form of adult-onset Parkinson disease, a complex
DE   neurodegenerative disorder characterized by bradykinesia, resting
DE   tremor, muscular rigidity and postural instability, as well as by a
DE   clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain.
DR   MIM; 616361; phenotype.
DR   MedGen; CN230317.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 22.
AC   DI-04601
AR   PARK22.
DE   An autosomal dominant form of Parkinson disease, a complex
DE   neurodegenerative disorder characterized by bradykinesia, resting
DE   tremor, muscular rigidity and postural instability, as well as by a
DE   clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain.
SY   Parkinson disease 22, autosomal dominant.
DR   MIM; 616710; phenotype.
DR   MedGen; CN234663.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 23, autosomal recessive, early onset.
AC   DI-04668
AR   PARK23.
DE   An autosomal recessive, early-onset form of Parkinson disease, a
DE   complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability, as well as
DE   by a clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain.
DR   MIM; 616840; phenotype.
DR   MedGen; CN235610.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 24, autosomal dominant.
AC   DI-06202
AR   PARK24.
DE   An autosomal dominant form of Parkinson disease, a complex
DE   neurodegenerative disorder characterized by bradykinesia, resting
DE   tremor, muscular rigidity and postural instability, as well as by a
DE   clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain. PARK24 shows incomplete penetrance.
DR   MIM; 619491; phenotype.
DR   MedGen; CN300371.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development.
AC   DI-06748
AR   PARK25.
DE   An autosomal recessive, early-onset form of Parkinson disease, a
DE   complex neurodegenerative disorder characterized by bradykinesia,
DE   resting tremor, muscular rigidity and postural instability, as well as
DE   by a clinically significant response to treatment with levodopa. The
DE   pathology involves the loss of dopaminergic neurons in the substantia
DE   nigra and the presence of Lewy bodies (intraneuronal accumulations of
DE   aggregated proteins), in surviving neurons in various areas of the
DE   brain. PARK25 is characterized by onset of parkinsonism in late
DE   childhood or adolescence, developmental delay and intellectual
DE   disability. Cognitive impairment is mild to moderate and non-
DE   progressive.
DR   MIM; 620482; phenotype.
DR   MedGen; CN372710.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
KW   KW-0991:Intellectual disability.
//
ID   Parkinson disease 4, autosomal dominant.
AC   DI-02135
AR   PARK4.
DE   A complex neurodegenerative disorder with manifestations ranging from
DE   typical Parkinson disease to dementia with Lewy bodies. Clinical
DE   features include parkinsonian symptoms (resting tremor, rigidity,
DE   postural instability and bradykinesia), dementia, diffuse Lewy body
DE   pathology, autonomic dysfunction, hallucinations and paranoia.
SY   Parkinson disease 4 autosomal dominant Lewy body.
SY   Parkinson disease autosomal dominant 4.
SY   Parkinson disease familial type 4.
DR   MIM; 605543; phenotype.
DR   MedGen; C1854182.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 5.
AC   DI-02947
AR   PARK5.
DE   A complex neurodegenerative disorder with manifestations ranging from
DE   typical Parkinson disease to dementia with Lewy bodies. Clinical
DE   features include parkinsonian symptoms (resting tremor, rigidity,
DE   postural instability and bradykinesia), dementia, diffuse Lewy body
DE   pathology, autonomic dysfunction, hallucinations and paranoia.
SY   Parkinson disease 5, autosomal dominant, susceptibility to.
SY   Parkinson disease autosomal dominant 5.
DR   MIM; 613643; phenotype.
DR   MedGen; C3150899.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 6.
AC   DI-01239
AR   PARK6.
DE   An early-onset form of Parkinson disease, a neurodegenerative disorder
DE   characterized by parkinsonian signs such as rigidity, resting tremor
DE   and bradykinesia. A subset of patients manifest additional symptoms
DE   including hyperreflexia, autonomic instability, dementia and
DE   psychiatric disturbances. Symptoms show diurnal fluctuation and can
DE   improve after sleep. PARK6 pathogenesis involves respiratory complex I
DE   deficiency causing mitochondrial depolarization and dysfunction.
DE   Inheritance is autosomal recessive.
SY   Autosomal recessive early-onset Parkinson disease type 6.
SY   Parkinson disease 6 early-onset.
SY   Parkinson disease 6 late-onset susceptibility to.
SY   Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1.
SY   Parkinsonism young adult onset.
DR   MIM; 605909; phenotype.
DR   MedGen; C1853833.
DR   MedGen; C1970035.
DR   MedGen; C2751533.
DR   MeSH; D010300.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Parkinson disease 7.
AC   DI-01240
AR   PARK7.
DE   A neurodegenerative disorder characterized by resting tremor, postural
DE   tremor, bradykinesia, muscular rigidity, anxiety and psychotic
DE   episodes. PARK7 has onset before 40 years, slow progression and
DE   initial good response to levodopa. Some patients may show traits
DE   reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia
DE   complex (Guam disease).
SY   Amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2.
SY   Autosomal recessive early-onset Parkinson disease type 7.
DR   MIM; 606324; phenotype.
DR   MedGen; C1853445.
DR   MeSH; D010300.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson disease 8.
AC   DI-02136
AR   PARK8.
DE   A slowly progressive neurodegenerative disorder characterized by
DE   bradykinesia, rigidity, resting tremor, postural instability, neuronal
DE   loss in the substantia nigra, and the presence of neurofibrillary MAPT
DE   (tau)-positive and Lewy bodies in some patients.
DR   MIM; 607060; phenotype.
DR   MedGen; C1846862.
DR   MeSH; D010300.
KW   KW-0523:Neurodegeneration.
KW   KW-0907:Parkinson disease.
KW   KW-0908:Parkinsonism.
//
ID   Parkinson-dementia syndrome.
AC   DI-03096
AR   PARDE.
DE   A syndrome characterized by parkinsonism, tremor, rigidity, dementia,
DE   ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration
DE   occurs in the hippocampus, basal ganglia and brainstem nuclei.
SY   Steele-Richardson-Olszewski syndrome atypical.
SY   Supranuclear palsy progressive 1 atypical.
DR   MIM; 260540; phenotype.
DR   MedGen; C1850076.
DR   MedGen; C1850077.
DR   MedGen; C3151582.
DR   MeSH; D013494.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
//
ID   Parkinsonism with polyneuropathy.
AC   DI-06084
AR   PKNPY.
DE   An autosomal dominant disorder characterized by late-onset, levodopa-
DE   responsive parkinsonism with asymmetric tremor, rigidity and
DE   bradykinesia. Patients also manifest a sensorimotor polyneuropathy
DE   with variable degrees of distal legs and hands muscle atrophy and
DE   weakness, and absent deep tendon reflexes.
DR   MIM; 619279; phenotype.
DR   MedGen; CN296412.
DR   MeSH; D011115.
DR   MeSH; D020734.
KW   KW-0622:Neuropathy.
KW   KW-0908:Parkinsonism.
//
ID   Parkinsonism with spasticity, X-linked.
AC   DI-03948
AR   XPDS.
DE   A syndrome characterized by parkinsonian features, such as cogwheel
DE   rigidity, resting tremor and bradykinesia, and variably penetrant
DE   spasticity.
DR   MIM; 300911; phenotype.
DR   MedGen; C3806722.
DR   MedGen; CN181443.
DR   MeSH; D019636.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
//
ID   Parkinsonism-dystonia 1, infantile-onset.
AC   DI-02782
AR   PKDYS1.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   infantile onset of parkinsonism and dystonia. Other neurologic
DE   features include global developmental delay, bradykinesia and
DE   pyramidal tract signs.
SY   Dopamine transporter deficiency syndrome.
SY   DTDS.
SY   Dystonia-parkinsonism infantile.
SY   Parkinsonism-dystonia infantile.
SY   PKDYS.
DR   MIM; 613135; phenotype.
DR   MedGen; C2751067.
DR   MeSH; D004421.
DR   MeSH; D020734.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Parkinsonism-dystonia 2, infantile-onset.
AC   DI-05288
AR   PKDYS2.
DE   An autosomal recessive disorder characterized by infantile onset of
DE   abnormal movements, including parkinsonism, dystonia, and poor fine
DE   motor skills, as well as autonomic dysfunction, including abnormal
DE   sweating, cold extremities, and poor sleep. Some patients have
DE   variable degrees of developmental delay.
SY   Brain dopamine-serotonin vesicular transport disease.
SY   Brain monoamine vesicular transport disease.
DR   MIM; 618049; phenotype.
DR   MedGen; CN248785.
DR   MeSH; D004421.
DR   MeSH; D020734.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Parkinsonism-dystonia 3, childhood-onset.
AC   DI-06334
AR   PKDYS3.
DE   An autosomal recessive neurodegenerative disorder with onset in
DE   infancy or early childhood. Affected individuals present with
DE   progressive movement abnormalities, including parkinsonism with
DE   tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as
DE   ballismus. The parkinsonism features may be responsive to treatment
DE   with levodopa, although many patients develop levodopa-induced
DE   dyskinesia. Some patients may have mild cognitive impairment or
DE   psychiatric disturbances.
DR   MIM; 619738; phenotype.
DR   MedGen; CN306512.
DR   MeSH; D004421.
DR   MeSH; D020734.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Paroxysmal extreme pain disorder.
AC   DI-02140
AR   PEXPD.
DE   An autosomal dominant paroxysmal disorder of pain and autonomic
DE   dysfunction. The distinctive features are paroxysmal episodes of
DE   burning pain in the rectal, ocular, and mandibular areas accompanied
DE   by autonomic manifestations such as skin flushing.
SY   Familial rectal pain.
SY   FRP.
SY   Pain, submandibular, ocular, and rectal, with flushing.
SY   PEPD.
DR   MIM; 167400; phenotype.
DR   MedGen; C1833661.
DR   MeSH; D010146.
//
ID   Paroxysmal nocturnal hemoglobinuria 1.
AC   DI-02141
AR   PNH1.
DE   A disorder characterized by hemolytic anemia with hemoglobinuria,
DE   thromboses in large vessels, and a deficiency in hematopoiesis. Red
DE   blood cell breakdown with release of hemoglobin into the urine is
DE   manifested most prominently by dark-colored urine in the morning.
DR   MIM; 300818; phenotype.
DR   MedGen; C0024790.
DR   MedGen; C3806670.
DR   MeSH; D006457.
//
ID   Paroxysmal nocturnal hemoglobinuria 2.
AC   DI-03876
AR   PNH2.
DE   A disorder characterized by hemolytic anemia with hemoglobinuria,
DE   thromboses in large vessels, and a deficiency in hematopoiesis. Red
DE   blood cell breakdown with release of hemoglobin into the urine is
DE   manifested most prominently by dark-colored urine in the morning.
DR   MIM; 615399; phenotype.
DR   MedGen; C3809369.
DR   MedGen; CN179949.
DR   MeSH; D006457.
//
ID   Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.
AC   DI-00503
AR   PNKD3.
DE   An autosomal dominant neurologic disorder characterized by absence
DE   seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic
DE   dyskinesia and involuntary dystonic or choreiform movements. Onset is
DE   usually in childhood. Patients may have seizures only, dyskinesia
DE   only, or both.
SY   Generalized epilepsy and paroxysmal dyskinesia.
SY   GEPD.
DR   MIM; 609446; phenotype.
DR   MedGen; C1836173.
DR   MeSH; D002819.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Partial acquired lipodystrophy.
AC   DI-02142
AR   APLD.
DE   A rare childhood disease characterized by loss of subcutaneous fat
DE   from the face and trunk. Fat deposition on the pelvic girdle and lower
DE   limbs is normal or excessive. Most frequently, onset between 5 and 15
DE   years of age. Most affected subjects are females and some show no
DE   other abnormality, but many develop glomerulonephritis, diabetes
DE   mellitus, hyperlipidemia, and complement deficiency. Intellectual
DE   disability in some cases. APLD is a sporadic disorder of unknown
DE   etiology.
SY   APL.
SY   Barraquer-Simons syndrome.
SY   Cephalothoracic type lipodystrophy.
SY   Partial progressive lipodystrophy.
DR   MIM; 608709; phenotype.
DR   MedGen; C0220989.
//
ID   Partington syndrome.
AC   DI-02147
AR   PRTS.
DE   An X-linked developmental disorder characterized by intellectual
DE   disability, episodic dystonic hand movements, lower limb spasticity,
DE   and dysarthria.
SY   Intellectual developmental disorder, X-linked, syndromic 1.
SY   MRX36.
SY   MRXS1.
DR   MIM; 309510; phenotype.
DR   MedGen; C0796250.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Patent ductus arteriosus 2.
AC   DI-04762
AR   PDA2.
DE   A congenital heart defect characterized by the persistent opening of
DE   fetal ductus arteriosus that fails to close after birth. Fetal ductus
DE   arteriosus connects the pulmonary artery to the descending aorta,
DE   allowing unoxygenated blood to bypass the lung and flow to the
DE   placenta. Normally, the ductus occludes shortly after birth.
DR   MIM; 617035; phenotype.
DR   MedGen; CN237398.
DR   MeSH; D004374.
//
ID   Patent ductus arteriosus 3.
AC   DI-04763
AR   PDA3.
DE   A congenital heart defect characterized by the persistent opening of
DE   fetal ductus arteriosus that fails to close after birth. Fetal ductus
DE   arteriosus connects the pulmonary artery to the descending aorta,
DE   allowing unoxygenated blood to bypass the lung and flow to the
DE   placenta. Normally, the ductus occludes shortly after birth.
DR   MIM; 617039; phenotype.
DR   MedGen; CN237402.
DR   MeSH; D004374.
//
ID   Peeling skin syndrome 1.
AC   DI-03006
AR   PSS1.
DE   A genodermatosis characterized by generalized, continuous shedding of
DE   the outer layers of the epidermis. Two main PSS subtypes have been
DE   suggested. Patients with non-inflammatory PSS (type A) manifest white
DE   scaling, with painless and easy removal of the skin, irritation when
DE   in contact with water, dust and sand, and no history of erythema,
DE   pruritis or atopy. Inflammatory PSS (type B) is associated with
DE   generalized erythema, pruritus and atopy. It is an ichthyosiform
DE   erythroderma characterized by lifelong patchy peeling of the entire
DE   skin with onset at birth or shortly after. Several patients have been
DE   reported with high IgE levels.
SY   Deciduous skin.
SY   Keratolysis exfoliativa congenita.
SY   Peeling skin syndrome type B.
SY   Skin peeling familial continuous generalized.
DR   MIM; 270300; phenotype.
DR   MedGen; C1849193.
DR   MeSH; D003873.
//
ID   Peeling skin syndrome 2.
AC   DI-02148
AR   PSS2.
DE   A non-inflammatory and localized form of peeling skin syndrome, a
DE   genodermatosis characterized by the continuous shedding of the outer
DE   layers of the epidermis. In PSS2 patients, skin peeling is painless
DE   and strictly limited to the dorsa of the hands and feet. It is
DE   accompanied by painless erythema and spontaneous non-scarring healing.
DE   Ultrastructural and histological analysis shows a level of blistering
DE   high in the epidermis at the stratum granulosum-stratum corneum
DE   junction.
SY   Acral peeling skin syndrome.
SY   APSS.
SY   Peeling skin syndrome, acral type.
SY   Peeling skin syndrome type A.
DR   MIM; 609796; phenotype.
DR   MedGen; C1853354.
DR   MeSH; D003873.
//
ID   Peeling skin syndrome 3.
AC   DI-04350
AR   PSS3.
DE   A form of peeling skin syndrome, a genodermatosis characterized by
DE   generalized, continuous shedding of the outer layers of the epidermis.
DE   Two main PSS subtypes have been suggested. Patients with non-
DE   inflammatory PSS (type A) manifest white scaling, with painless and
DE   easy removal of the skin, irritation when in contact with water, dust
DE   and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE   PSS (type B) is associated with generalized erythema, pruritus and
DE   atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE   patchy peeling of the entire skin with onset at birth or shortly
DE   after. Several patients have been reported with high IgE levels. PSS3
DE   is characterized by generalized white scaling occurring over the upper
DE   and lower extremities. Symptoms start during the second half of the
DE   first decade of life.
DR   MIM; 616265; phenotype.
DR   MedGen; CN228565.
DR   MeSH; D003873.
//
ID   Peeling skin syndrome 4.
AC   DI-03298
AR   PSS4.
DE   A genodermatosis characterized by congenital exfoliative ichthyosis,
DE   sharing some features with ichthyosis bullosa of Siemens and annular
DE   epidermolytic ichthyosis. PSS4 presents shortly after birth as dry,
DE   scaly skin over most of the body with coarse peeling of non-
DE   erythematous skin on the palms and soles, which is exacerbated by
DE   excessive moisture and minor trauma. Electron microscopy analysis of
DE   skin biopsies, reveals mostly normal-appearing upper layers of the
DE   epidermis, but prominent intercellular edema of the basal and
DE   suprabasal cell layers with aggregates of tonofilaments in the basal
DE   keratinocytes.
SY   AREI.
SY   Exfoliative ichthyosis, autosomal recessive.
SY   Exfoliative ichthyosis autosomal recessive IBS-like.
SY   Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like.
DR   MIM; 607936; phenotype.
DR   MedGen; C1842797.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   Peeling skin syndrome 5.
AC   DI-04833
AR   PSS5.
DE   A form of peeling skin syndrome, a genodermatosis characterized by
DE   generalized, continuous shedding of the outer layers of the epidermis.
DE   Two main PSS subtypes have been suggested. Patients with non-
DE   inflammatory PSS (type A) manifest white scaling, with painless and
DE   easy removal of the skin, irritation when in contact with water, dust
DE   and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE   PSS (type B) is associated with generalized erythema, pruritus and
DE   atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE   patchy peeling of the entire skin with onset at birth or shortly
DE   after. Several patients have been reported with high IgE levels. PSS5
DE   patients manifest hyperkeratosis and superficial peeling of areas of
DE   the palmar and dorsal faces of hands and feet. Additional variable
DE   features include erythema, superficial scaling of forearms and legs
DE   and diffuse yellowish hyperkeratotic palmoplantar plaques. PSS5
DE   inheritance is autosomal recessive.
DR   MIM; 617115; phenotype.
DR   MedGen; CN238490.
DR   MeSH; D003873.
//
ID   Peeling skin syndrome 6.
AC   DI-05307
AR   PSS6.
DE   A form of peeling skin syndrome, a genodermatosis characterized by
DE   generalized, continuous shedding of the outer layers of the epidermis.
DE   Two main PSS subtypes have been suggested. Patients with non-
DE   inflammatory PSS (type A) manifest white scaling, with painless and
DE   easy removal of the skin, irritation when in contact with water, dust
DE   and sand, and no history of erythema, pruritis or atopy. Inflammatory
DE   PSS (type B) is associated with generalized erythema, pruritus and
DE   atopy. It is an ichthyosiform erythroderma characterized by lifelong
DE   patchy peeling of the entire skin with onset at birth or shortly
DE   after. Several patients have been reported with high IgE levels. PSS6
DE   patients manifest generalized ichthyotic dry skin, and bullous peeling
DE   lesions on the trunk and limbs at sites of minor trauma. Skin symptoms
DE   are exacerbated by warmth and humidity. PSS6 inheritance is autosomal
DE   recessive.
DR   MIM; 618084; phenotype.
DR   MedGen; CN252690.
DR   MeSH; D003873.
//
ID   Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
AC   DI-04385
AR   PLACK.
DE   An autosomal recessive disease characterized by generalized,
DE   continuous shedding of the outer layers of the epidermis, leukonychia,
DE   acral punctate keratosis, cheilitis, knuckle pads with multiple
DE   hyperkeratotic micropapules involving the interphalangeal joints, and
DE   palmoplantar keratoderma.
DR   MIM; 616295; phenotype.
DR   MedGen; CN229493.
DR   MeSH; D003873.
DR   MeSH; D007645.
DR   MeSH; D009260.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   PEHO syndrome.
AC   DI-04784
AR   PEHO.
DE   An autosomal recessive syndrome characterized by progressive
DE   encephalopathy, lack of psychomotor development, severe intellectual
DE   disability, early onset epileptic seizures, optic nerve/cerebellar
DE   atrophy, pedal edema, and early death.
SY   Infantile cerebellooptic atrophy.
SY   Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.
DR   MIM; 260565; phenotype.
DR   MedGen; C1850055.
DR   MeSH; D001929.
DR   MeSH; D009896.
DR   MeSH; D013036.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   PEHO-like syndrome.
AC   DI-05012
AR   PEHOL.
DE   An autosomal recessive syndrome characterized by microcephaly and
DE   moderately severe hypotonia manifesting at birth, seizures that
DE   progress into infantile spasms with hypsarrhythmia, brain atrophy with
DE   bilateral polymicrogyria and pachygyria, thin corpus callosum, and
DE   mild reduction in cerebellar vermis volume. Patients also display
DE   optic atrophy, severe cognitive delay, puffiness of the maxillary
DE   region of the face, and edema of the dorsum of the hands and feet.
SY   PEHO syndrome-like.
DR   MIM; 617507; phenotype.
DR   MedGen; C1850056.
DR   MeSH; D009421.
DR   MeSH; D009896.
DR   MeSH; D013036.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Pelger-Huet anomaly.
AC   DI-02149
AR   PHA.
DE   An autosomal dominant inherited abnormality of granulocytes,
DE   characterized by abnormal ovoid shape, reduced nuclear segmentation
DE   and an apparently looser chromatin structure.
DR   MIM; 169400; phenotype.
DR   MedGen; C0030779.
DR   MeSH; D010381.
//
ID   Pelizaeus-Merzbacher disease.
AC   DI-00903
AR   PMD.
DE   An X-linked recessive hypomyelinating disorder of the central nervous
DE   system in which myelin is not formed properly. PMD is characterized
DE   clinically by nystagmus, spastic quadriplegia, ataxia, and
DE   developmental delay.
SY   HLD1.
SY   Leukodystrophy hypomyelinating 1.
DR   MIM; 312080; phenotype.
DR   MedGen; C0205711.
DR   MeSH; D020371.
//
ID   Pendred syndrome.
AC   DI-00905
AR   PDS.
DE   An autosomal recessive disorder characterized by congenital
DE   sensorineural hearing loss in association with thyroid goiter. The
DE   disorder may account for up to 10% of the cases of hereditary
DE   deafness. The deafness is most often associated with a Mondini
DE   cochlear defect. Deafness occurs early, starting at birth or during
DE   the first years of life. It is bilateral, sometimes asymmetrical,
DE   fluctuant and often progressive. Thyroid perturbations, such as
DE   thyroid goiter and/or hypothyroidism appear most commonly during
DE   adolescence, but they can be congenital or appear later.
SY   Deafness with goiter.
SY   Goiter-deafness syndrome.
SY   TDH2B.
SY   Thyroid dyshormonogenesis 2B.
DR   MIM; 274600; phenotype.
DR   MedGen; C0271829.
DR   MeSH; D006042.
KW   KW-0209:Deafness.
//
ID   Pentosuria.
AC   DI-04062
AR   PNTSU.
DE   An inborn error of metabolism characterized by excessive urinary
DE   excretion of L-xylulose.
SY   L-xylulose reductase deficiency.
SY   L-xylulosuria.
SY   Xylitol dehydrogenase deficiency.
DR   MIM; 260800; phenotype.
DR   MedGen; C0268162.
//
ID   Perching syndrome.
AC   DI-04779
AR   PERCHING.
DE   An autosomal recessive multisystem disorder characterized by global
DE   developmental delay, dysmorphic facial features, feeding and
DE   respiratory difficulties with poor overall growth, axial hypotonia,
DE   and joint contractures. The features are variable, even within
DE   families, and may also include retinitis pigmentosa, cardiac or
DE   genitourinary anomalies, and abnormal sweating.
SY   CISS3.
SY   Crisponi/Cold-induced sweating syndrome 3.
DR   MIM; 617055; phenotype.
DR   MedGen; CN237811.
DR   MeSH; D000015.
DR   MeSH; D006945.
//
ID   Periodic fever, familial, autosomal dominant.
AC   DI-00491
AR   FPF.
DE   A hereditary periodic fever syndrome characterized by recurrent fever,
DE   abdominal pain, localized tender skin lesions and myalgia. Reactive
DE   amyloidosis is the main complication and occurs in 25% of cases.
SY   Caledonian fever.
SY   Familial hibernian fever.
SY   FHF.
SY   TNF receptor-associated periodic syndrome.
SY   TRAPS.
SY   Tumor necrosis factor receptor-associated periodic syndrome.
DR   MIM; 142680; phenotype.
DR   MedGen; C1275126.
DR   MeSH; D056660.
KW   KW-1008:Amyloidosis.
//
ID   Periodic fever, immunodeficiency, and thrombocytopenia syndrome.
AC   DI-05881
AR   PFITS.
DE   An immunologic disorder with variable manifestations including early-
DE   onset recurrent respiratory infections, stomatitis, cutaneous
DE   infections, and neutropenia.
SY   Lazy leukocyte syndrome.
DR   MIM; 150550; phenotype.
DR   MedGen; C0272174.
DR   MeSH; D007153.
//
ID   Periodic fever, menstrual cycle-dependent.
AC   DI-03472
AR   PFMC.
DE   A condition characterized by recurrent fevers up to 40 degrees Celsius
DE   associated with the luteal phase of the menstrual cycle. Women show
DE   menstrual cycle-dependent physiologic changes in relation to sex
DE   hormone levels. Because ovulation triggers a significant change in the
DE   hormonal milieu that is similar to local inflammation, a 0.5 to 1.0
DE   degree Celsius increase in basal body temperature after ovulation is
DE   commonly associated with progesterone secretion and is believed to be
DE   triggered by the induction of several inflammatory cytokines.
DR   MIM; 614674; phenotype.
DR   MedGen; C3553418.
DR   MedGen; CN128715.
DR   MeSH; D056660.
//
ID   Periodic paralysis hyperkalemic.
AC   DI-00906
AR   HYPP.
DE   An autosomal dominant channelopathy characterized by episodic flaccid
DE   generalized muscle weakness associated with high levels of serum
DE   potassium. Concurrence of myotonia is found in HYPP patients.
SY   Adynamia episodica hereditaria with or without myotonia.
SY   Gamstorp disease.
DR   MIM; 170500; phenotype.
DR   MedGen; C0238357.
DR   MedGen; C2930895.
DR   MedGen; CN074266.
DR   MeSH; D020513.
//
ID   Periodic paralysis hypokalemic 1.
AC   DI-00907
AR   HOKPP1.
DE   An autosomal dominant disorder manifested by episodic flaccid
DE   generalized muscle weakness associated with falls of serum potassium
DE   levels.
SY   HOKPP.
SY   HYPOPP.
SY   Westphall disease.
DR   MIM; 170400; phenotype.
DR   MedGen; C0238358.
DR   MedGen; CN031165.
DR   MeSH; D020514.
//
ID   Periodic paralysis hypokalemic 2.
AC   DI-02768
AR   HOKPP2.
DE   An autosomal dominant disorder manifested by episodic flaccid
DE   generalized muscle weakness associated with falls of serum potassium
DE   levels.
DR   MIM; 613345; phenotype.
DR   MedGen; C2750061.
DR   MeSH; D020514.
//
ID   Periodic paralysis normokalemic.
AC   DI-00908
AR   NKPP.
DE   A disorder closely related to hyperkalemic periodic paralysis, but
DE   marked by a lack of alterations in potassium levels during attacks of
DE   muscle weakness.
SY   Periodic paralysis eukalemic.
DR   MIM; 170500; phenotype.
DR   MedGen; C1868433.
DR   MeSH; D020513.
//
ID   Periodontititis, aggressive, 1.
AC   DI-01853
AR   AP1.
DE   A disease characterized by severe and protracted gingival infections,
DE   generalized or localized, leading to tooth loss. Amounts of microbial
DE   deposits are generally inconsistent with the severity of periodontal
DE   tissue destruction and the progression of attachment and bone loss may
DE   be self arresting.
SY   JPD.
SY   Juvenile periodontitis.
SY   PPP.
SY   Prepubertal periodontitis.
DR   MIM; 170650; phenotype.
DR   MedGen; C0031106.
DR   MeSH; D010520.
//
ID   Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
AC   DI-00909
AR   PCWH.
DE   A complex neurocristopathy that includes features of 4 distinct
DE   syndromes: peripheral demyelinating neuropathy, central dysmyelinating
DE   leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
SY   Waardenburg-Shah syndrome neurologic variant.
DR   MIM; 609136; phenotype.
DR   MedGen; C1836727.
DR   MeSH; D006627.
DR   MeSH; D011115.
DR   MeSH; D014849.
KW   KW-0209:Deafness.
KW   KW-0367:Hirschsprung disease.
KW   KW-0897:Waardenburg syndrome.
//
ID   Peripheral motor neuropathy, childhood-onset, biotin-responsive.
AC   DI-06441
AR   COMNB.
DE   An autosomal recessive disorder characterized by distal muscle
DE   weakness and atrophy appearing late in the first decade of life. The
DE   disorder predominantly affects the upper limbs and hands, resulting in
DE   difficulties with fine motor skills. Some patients may have lower limb
DE   involvement, resulting in gait difficulties. Additional features may
DE   include spasticity, ataxia, and cerebellar signs. Sensation is intact,
DE   and patients have normal cognitive development. Treatment with biotin,
DE   pantothenic acid, and lipoic acid may result in clinical improvement.
DR   MIM; 619903; phenotype.
DR   MedGen; CN315395.
DR   MeSH; D010523.
KW   KW-0622:Neuropathy.
//
ID   Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay.
AC   DI-04526
AR   PNSED.
DE   An autosomal recessive mitochondrial disorder with multisystemic and
DE   highly variable manifestations. Affected individuals suffer from a
DE   peripheral neuropathy, with distal muscle weakness and atrophy, and
DE   distal sensory impairment. Additional variable features include early-
DE   onset hypotonia and global developmental delay, poor or absent motor
DE   skills, exercise intolerance, poor growth, cerebellar signs,
DE   spasticity, and seizures. Biochemical analysis may show deficiencies
DE   in mitochondrial respiratory complex. Lactic acidosis is frequently
DE   observed.
SY   Combined oxidative phosphorylation deficiency 26.
SY   COXPD26.
DR   MIM; 616539; phenotype.
DR   MedGen; CN232403.
DR   MeSH; D028361.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.
AC   DI-05337
AR   PNRIID.
DE   An autosomal recessive disorder characterized by early childhood-onset
DE   of peripheral sensorimotor neuropathy, progressive distal muscle
DE   weakness, atrophy in hands and feet, and gait difficulties, often with
DE   loss of ambulation. Most affected individuals also have impaired
DE   intellectual development, although some have normal cognition.
DE   Additional features may include eye movement abnormalities, claw
DE   hands, foot deformities, and scoliosis.
DR   MIM; 618124; phenotype.
DR   MedGen; CN253838.
DR   MeSH; D008607.
DR   MeSH; D015417.
KW   KW-0622:Neuropathy.
KW   KW-0991:Intellectual disability.
//
ID   Peripheral neuropathy, myopathy, hoarseness, and hearing loss.
AC   DI-03320
AR   PNMHH.
DE   A complex phenotype of progressive peripheral neuropathy and distal
DE   myopathy, with later onset of hoarseness and hearing loss. Affected
DE   individuals develop distal muscle weakness at a mean age of 10.6
DE   years, followed by progressive atrophy of these muscles. The lower
DE   limbs are more severely affected than the upper limbs, and the muscle
DE   weakness first affects anterior leg muscles and later posterior leg
DE   muscles.
DR   MIM; 614369; phenotype.
DR   MedGen; C3280556.
DR   MeSH; D010523.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
//
ID   Periventricular nodular heterotopia 1.
AC   DI-00910
AR   PVNH1.
DE   A developmental disorder characterized by the presence of
DE   periventricular nodules of cerebral gray matter, resulting from a
DE   failure of neurons to migrate normally from the lateral ventricular
DE   proliferative zone, where they are formed, to the cerebral cortex.
DE   PVNH1 is an X-linked dominant form. Heterozygous females have normal
DE   intelligence but suffer from seizures and various manifestations
DE   outside the central nervous system, especially related to the vascular
DE   system. Hemizygous affected males die in the prenatal or perinatal
DE   period.
SY   BPNH.
SY   Familial nodular heterotopia.
SY   NHBP.
SY   Nodular heterotopia bilateral periventricular.
SY   Periventricular heterotopia Ehlers-Danlos variant.
SY   Periventricular heterotopia X-linked dominant.
SY   Periventricular nodular heterotopia 4.
SY   PVNH4.
DR   MIM; 300049; phenotype.
DR   MedGen; C1845235.
DR   MedGen; C1848213.
DR   MedGen; C1848214.
DR   MeSH; D054091.
//
ID   Periventricular nodular heterotopia 2.
AC   DI-00911
AR   PVNH2.
DE   A developmental disorder characterized by the presence of
DE   periventricular nodules of cerebral gray matter, resulting from a
DE   failure of neurons to migrate normally from the lateral ventricular
DE   proliferative zone, where they are formed, to the cerebral cortex.
DE   PVNH2 is an autosomal recessive form characterized by microcephaly
DE   (small brain), severe developmental delay and recurrent infections. No
DE   anomalies extrinsic to the central nervous system, such as dysmorphic
DE   features or grossly abnormal endocrine or other conditions, are
DE   associated with PVNH2.
SY   ARPHM.
SY   Autosomal recessive periventricular nodular heterotopia type 2.
SY   Periventricular heterotopia autosomal recessive.
SY   Periventricular heterotopia with microcephaly autosomal recessive.
DR   MIM; 608097; phenotype.
DR   MedGen; C1842563.
DR   MeSH; D054091.
//
ID   Periventricular nodular heterotopia 6.
AC   DI-03958
AR   PVNH6.
DE   A form of periventricular nodular heterotopia, a disorder resulting
DE   from a defect in the pattern of neuronal migration in which ectopic
DE   collections of neurons lie along the lateral ventricles of the brain
DE   or just beneath, contiguously or in isolated patches. PVNH6 results in
DE   delayed psychomotor development, delayed speech, strabismus, and onset
DE   of seizures with hypsarrhythmia in early infancy.
DR   MIM; 615544; phenotype.
DR   MedGen; C3809872.
DR   MedGen; CN181758.
DR   MeSH; D054091.
//
ID   Periventricular nodular heterotopia 7.
AC   DI-04867
AR   PVNH7.
DE   A form of periventricular nodular heterotopia, a disorder resulting
DE   from a defect in the pattern of neuronal migration in which ectopic
DE   collections of neurons lie along the lateral ventricles of the brain
DE   or just beneath, contiguously or in isolated patches. PVNH7 is an
DE   autosomal dominant disease characterized by delayed psychomotor
DE   development, intellectual disability, and seizures in some patients.
DE   Additional features include cleft palate and toe syndactyly.
DR   MIM; 617201; phenotype.
DR   MedGen; CN239092.
DR   MeSH; D054091.
//
ID   Periventricular nodular heterotopia 8.
AC   DI-05385
AR   PVNH8.
DE   A form of periventricular nodular heterotopia, a disorder resulting
DE   from a defect in the pattern of neuronal migration in which ectopic
DE   collections of neurons lie along the lateral ventricles of the brain
DE   or just beneath, contiguously or in isolated patches. PVNH8 is an
DE   autosomal dominant disease characterized by developmental
DE   disabilities, speech delay, seizures and attention deficit
DE   hyperactivity disorder.
DR   MIM; 618185; phenotype.
DR   MedGen; CN257784.
DR   MeSH; D054091.
//
ID   Periventricular nodular heterotopia 9.
AC   DI-05862
AR   PVNH9.
DE   A form of periventricular nodular heterotopia, a disorder resulting
DE   from a defect in the pattern of neuronal migration in which ectopic
DE   collections of neurons lie along the lateral ventricles of the brain
DE   or just beneath, contiguously or in isolated patches. PVNH9 is an
DE   autosomal dominant disorder with incomplete penetrance, characterized
DE   by impaired intellectual development, cognitive defects, learning
DE   disabilities, and behavior abnormalities. Some patients develop
DE   seizures.
DR   MIM; 618918; phenotype.
DR   MedGen; C5394503.
DR   MeSH; D054091.
//
ID   Perlman syndrome.
AC   DI-03413
AR   PRLMNS.
DE   An autosomal recessive congenital overgrowth syndrome. Affected
DE   children are large at birth, are hypotonic, and show organomegaly,
DE   characteristic facial dysmorphisms (inverted V-shaped upper lip,
DE   prominent forehead, deep-set eyes, broad and flat nasal bridge, and
DE   low-set ears), renal anomalies (nephromegaly and hydronephrosis),
DE   frequent neurodevelopmental delay, and high neonatal mortality.
DE   Perlman syndrome is associated with a high risk of Wilms tumor.
DE   Histologic examination of the kidneys in affected children shows
DE   frequent nephroblastomatosis, which is a precursor lesion for Wilms
DE   tumor.
SY   Nephroblastomatosis fetal ascites macrosomia and Wilms tumor.
SY   Renal hamartomas nephroblastomatosis and fetal gigantism.
DR   MIM; 267000; phenotype.
DR   MedGen; C0796113.
DR   MeSH; D005320.
DR   MeSH; D007680.
//
ID   Peroxisomal fatty acyl-CoA reductase 1 disorder.
AC   DI-04305
AR   PFCRD.
DE   An autosomal recessive metabolic disorder clinically characterized by
DE   severe intellectual disability, early-onset epilepsy, microcephaly,
DE   congenital cataracts, growth retardation, and spasticity.
DR   MIM; 616154; phenotype.
DR   MedGen; CN224982.
DR   MeSH; D018901.
KW   KW-0887:Epilepsy.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Peroxisome biogenesis disorder 10A.
AC   DI-03592
AR   PBD10A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 10A (Zellweger).
DR   MIM; 614882; phenotype.
DR   MedGen; C3553999.
DR   MedGen; CN159239.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 10B.
AC   DI-04964
AR   PBD10B.
DE   A moderately severe peroxisome biogenesis disorder belonging to the
DE   Zellweger disease spectrum. PBD10B is characterized by neonatal
DE   jaundice, dysmorphic features, delayed psychomotor development, axial
DE   hypotonia that can progress to severe spastic paraparesis with
DE   hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and
DE   cataracts. Laboratory studies show increased levels of very long-chain
DE   fatty acids. Inheritance is autosomal recessive.
DR   MIM; 617370; phenotype.
DR   MedGen; CN240842.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 11A.
AC   DI-03593
AR   PBD11A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 11A (Zellweger).
DR   MIM; 614883; phenotype.
DR   MedGen; C3554000.
DR   MedGen; CN159240.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 11B.
AC   DI-03594
AR   PBD11B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 11B (NALD/IRD).
SY   Peroxisome biogenesis disorder 11B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 614885; phenotype.
DR   MedGen; C3554001.
DR   MedGen; CN159241.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 12A.
AC   DI-03595
AR   PBD12A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 12A (Zellweger).
DR   MIM; 614886; phenotype.
DR   MedGen; C3554002.
DR   MedGen; CN159242.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 13A.
AC   DI-03596
AR   PBD13A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 13A (Zellweger).
DR   MIM; 614887; phenotype.
DR   MedGen; C3554004.
DR   MedGen; CN159243.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 14B.
AC   DI-03597
AR   PBD14B.
DE   An autosomal recessive peroxisome biogenesis disorder characterized
DE   clinically by mild intellectual disability, congenital cataracts,
DE   progressive hearing loss, and polyneuropathy. Additionally, recurrent
DE   migraine-like episodes following mental stress or physical exertion,
DE   not a common feature in peroxisome disorders, are observed.
DR   MIM; 614920; phenotype.
DR   MedGen; C3554055.
DR   MedGen; CN160486.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 1A.
AC   DI-00800
AR   PBD1A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum. PBD1A is an autosomal recessive systemic disorder
DE   characterized clinically by severe neurologic dysfunction with
DE   profound psychomotor retardation, severe hypotonia and neonatal
DE   seizures, craniofacial abnormalities, liver dysfunction, and
DE   biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Cerebrohepatorenal syndrome.
SY   Cerebro-hepato-renal syndrome.
SY   CHR syndrome.
SY   Peroxisome biogenesis disorder 1A (Zellweger).
SY   Zellweger's syndrome.
SY   Zellweger syndrome.
SY   ZS.
SY   ZWS.
DR   MIM; 214100; phenotype.
DR   MedGen; C0043459.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 1B.
AC   DI-03577
AR   PBD1B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Autosomal neonatal adrenoleukodystrophy.
SY   Infantile phytanic acid storage disease.
SY   Infantile Refsum disease.
SY   Peroxisome biogenesis disorder (NALD/IRD).
SY   Peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease).
SY   Peroxisome biogenesis disorder 1B (NALD/IRD).
DR   MIM; 601539; phenotype.
DR   MedGen; CN168921.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 2A.
AC   DI-03579
AR   PBD2A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and characterized clinically by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 2A (Zellweger).
DR   MIM; 214110; phenotype.
DR   MedGen; C1859228.
DR   MedGen; C3550273.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 2B.
AC   DI-00048
AR   PBD2B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 2B (NALD/IRD).
SY   Peroxisome biogenesis disorder 2B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 202370; phenotype.
DR   MedGen; C0282525.
DR   MedGen; C3550234.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 3A.
AC   DI-03580
AR   PBD3A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 3A (Zellweger).
DR   MIM; 614859; phenotype.
DR   MedGen; C3553929.
DR   MedGen; CN159227.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 3B.
AC   DI-00598
AR   PBD3B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 3B (NALD/IRD).
SY   Peroxisome biogenesis disorder 3B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 266510; phenotype.
DR   MedGen; C3550693.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 4A.
AC   DI-03581
AR   PBD4A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 4A (Zellweger).
DR   MIM; 614862; phenotype.
DR   MedGen; C3553936.
DR   MedGen; CN159228.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 4B.
AC   DI-03582
AR   PBD4B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 4B (NALD/IRD).
SY   Peroxisome biogenesis disorder 4B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 614863; phenotype.
DR   MedGen; C3553937.
DR   MedGen; CN159229.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 5A.
AC   DI-03583
AR   PBD5A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 5A (Zellweger).
DR   MIM; 614866; phenotype.
DR   MedGen; C3553940.
DR   MedGen; CN159230.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 5B.
AC   DI-03584
AR   PBD5B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 5B (NALD/IRD).
SY   Peroxisome biogenesis disorder 5B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 614867; phenotype.
DR   MedGen; C3542026.
DR   MedGen; CN159231.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 6A.
AC   DI-03585
AR   PBD6A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 6A (Zellweger).
DR   MIM; 614870; phenotype.
DR   MedGen; C3553947.
DR   MedGen; CN159232.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 6B.
AC   DI-03586
AR   PBD6B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 6B (NALD/IRD).
SY   Peroxisome biogenesis disorder 6B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 614871; phenotype.
DR   MedGen; C3553948.
DR   MedGen; CN159233.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 7A.
AC   DI-03587
AR   PBD7A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 7A (Zellweger).
DR   MIM; 614872; phenotype.
DR   MedGen; C3553949.
DR   MedGen; CN159234.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 7B.
AC   DI-03588
AR   PBD7B.
DE   A peroxisome biogenesis disorder that includes neonatal
DE   adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two
DE   milder manifestations of the Zellweger disease spectrum. The clinical
DE   course of patients with the NALD and IRD presentation is variable and
DE   may include developmental delay, hypotonia, liver dysfunction,
DE   sensorineural hearing loss, retinal dystrophy and vision impairment.
DE   Children with the NALD presentation may reach their teens, while
DE   patients with the IRD presentation may reach adulthood. The clinical
DE   conditions are often slowly progressive in particular with respect to
DE   loss of hearing and vision. The biochemical abnormalities include
DE   accumulation of phytanic acid, very long chain fatty acids (VLCFA),
DE   di- and trihydroxycholestanoic acid and pipecolic acid.
SY   Peroxisome biogenesis disorder 7B (NALD/IRD).
SY   Peroxisome biogenesis disorder 7B (neonatal adrenoleukodystrophy/infantile Refsum disease).
DR   MIM; 614873; phenotype.
DR   MedGen; C3553951.
DR   MedGen; CN159235.
DR   MeSH; D052919.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 8A.
AC   DI-03589
AR   PBD8A.
DE   A fatal peroxisome biogenesis disorder belonging to the Zellweger
DE   disease spectrum and clinically characterized by severe neurologic
DE   dysfunction with profound psychomotor retardation, severe hypotonia
DE   and neonatal seizures, craniofacial abnormalities, liver dysfunction,
DE   and biochemically by the absence of peroxisomes. Additional features
DE   include cardiovascular and skeletal defects, renal cysts, ocular
DE   abnormalities, and hearing impairment. Most severely affected
DE   individuals with the classic form of the disease (classic Zellweger
DE   syndrome) die within the first year of life.
SY   Peroxisome biogenesis disorder 8A (Zellweger).
DR   MIM; 614876; phenotype.
DR   MedGen; C3553959.
DR   MedGen; CN159236.
DR   MeSH; D015211.
KW   KW-0861:Zellweger syndrome.
//
ID   Peroxisome biogenesis disorder 8B.
AC   DI-03590
AR   PBD8B.
DE   A relatively mild peroxisome biogenesis disorder. Affected individuals
DE   manifest lower limb spasticity and ataxia resulting in wheelchair
DE   dependence. Other features include optic atrophy, cataracts,
DE   dysarthria, dysphagia, constipation, and a peripheral demyelinating
DE   motor and sensory neuropathy. Cognition is relatively preserved.
DE   Biochemical abnormalities are mild and include increased very-long-
DE   chain fatty acids (VLCFA), increased bile acid intermediates, and
DE   increased branched chain fatty acids. Phytanic acid alpha-oxidation,
DE   pristanic acid beta-oxidation, and red cell plasmalogen are normal.
DR   MIM; 614877; phenotype.
DR   MedGen; C3553960.
DR   MedGen; CN159237.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder 9B.
AC   DI-03591
AR   PBD9B.
DE   A peroxisome biogenesis disorder with unusually mild clinical and
DE   biochemical manifestations. Affected individuals manifest a variable
DE   phenotype similar to, and in some cases indistinguishable from,
DE   classic Refsum disease. Variable features include ocular
DE   abnormalities, sensorimotor neuropathy, ichthyosis, deafness,
DE   chondrodysplasia punctata without rhizomelia or growth failure.
SY   Atypical peroxisome biogenesis disorder PEX7-related.
SY   Refsum disease adult 2.
DR   MIM; 614879; phenotype.
DR   MedGen; C2749346.
DR   MedGen; CN159238.
DR   MeSH; D012035.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 1.
AC   DI-00913
AR   PBD-CG1.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG1.
SY   PBD-CGE.
SY   Peroxisome biogenesis disorder complementation group E.
DR   MIM; 214100; phenotype.
DR   MedGen; C1865803.
DR   MedGen; C1865804.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 11.
AC   DI-00920
AR   PBD-CG11.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG11.
SY   PBD-CGR.
SY   Peroxisome biogenesis disorder complementation group R.
DR   MIM; 614879; phenotype.
DR   MedGen; C1866351.
DR   MedGen; C1866352.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 12.
AC   DI-00921
AR   PBD-CG12.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG12.
SY   PBD-CGG.
SY   Peroxisome biogenesis disorder complementation group G.
DR   MIM; 614882; phenotype.
DR   MedGen; C1864171.
DR   MedGen; C1864172.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 13.
AC   DI-02153
AR   PBD-CG13.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG13.
SY   PBD-CGH.
SY   Peroxisome biogenesis disorder complementation group H.
DR   MIM; 614883; phenotype.
DR   MedGen; C1866259.
DR   MedGen; C1866260.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 14.
AC   DI-00922
AR   PBD-CG14.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG14.
SY   PBD-CGJ.
SY   Peroxisome biogenesis disorder complementation group J.
DR   MIM; 614886; phenotype.
DR   MedGen; C1838299.
DR   MedGen; C1838300.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 2.
AC   DI-03578
AR   PBD-CG2.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG1.
SY   PBD-CGE.
SY   Peroxisome biogenesis disorder complementation group E.
DR   MIM; 214110; phenotype.
DR   MedGen; C3550274.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 3.
AC   DI-00914
AR   PBD-CG3.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG3.
DR   MIM; 614859; phenotype.
DR   MedGen; C1866340.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 4.
AC   DI-00915
AR   PBD-CG4.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG4.
SY   PBD-CG6.
SY   PBD-CGC.
SY   Peroxisome biogenesis disorder complementation group 6.
SY   Peroxisome biogenesis disorder complementation group C.
DR   MIM; 614862; phenotype.
DR   MedGen; C1832230.
DR   MedGen; C1832231.
DR   MedGen; C1832232.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 5.
AC   DI-00916
AR   PBD-CG5.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG5.
SY   PBD-CG10.
SY   PBD-CGF.
SY   Peroxisome biogenesis disorder complementation group 10.
SY   Peroxisome biogenesis disorder complementation group F.
SY   Zellweger syndrome 3.
SY   ZWS3.
DR   MIM; 614866; phenotype.
DR   MedGen; C3539010.
DR   MedGen; C3553941.
DR   MedGen; C3553942.
DR   MeSH; D015211.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 7.
AC   DI-00917
AR   PBD-CG7.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG7.
SY   PBD-CGB.
SY   Peroxisome biogenesis disorder complementation group B.
DR   MIM; 614870; phenotype.
DR   MedGen; C1864399.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 8.
AC   DI-00918
AR   PBD-CG8.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG8.
SY   PBD-CGA.
SY   Peroxisome biogenesis disorder complementation group A.
DR   MIM; 614872; phenotype.
DR   MedGen; C3553950.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group 9.
AC   DI-00919
AR   PBD-CG9.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
SY   CG9.
SY   PBD-CGD.
SY   Peroxisome biogenesis disorder complementation group D.
DR   MIM; 614876; phenotype.
DR   MedGen; C1863998.
DR   MedGen; C1863999.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Peroxisome biogenesis disorder complementation group K.
AC   DI-02154
AR   PBD-CGK.
DE   A peroxisomal disorder arising from a failure of protein import into
DE   the peroxisomal membrane or matrix. The peroxisome biogenesis
DE   disorders (PBD group) are genetically heterogeneous with at least 14
DE   distinct genetic groups as concluded from complementation studies.
DE   Include disorders are: Zellweger syndrome (ZWS), neonatal
DE   adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and
DE   classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and
DE   IRD are distinct from RCDP and constitute a clinical continuum of
DE   overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
DR   MIM; 614887; phenotype.
DR   MedGen; C1866257.
DR   MeSH; D018901.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Perrault syndrome 1.
AC   DI-03133
AR   PRLTS1.
DE   A sex-influenced disorder characterized by sensorineural deafness in
DE   both males and females and ovarian dysgenesis in females. Some
DE   patients also have neurologic manifestations, including mild
DE   intellectual disability and cerebellar and peripheral nervous system
DE   involvement.
SY   Gonadal dysgenesis XX type with deafness.
SY   Ovarian dysgenesis with sensorineural deafness.
DR   MIM; 233400; phenotype.
DR   MedGen; C0685838.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perrault syndrome 2.
AC   DI-03615
AR   PRLTS2.
DE   A sex-influenced disorder characterized by sensorineural deafness in
DE   both males and females and ovarian dysgenesis in females. Affected
DE   females have primary amenorrhea, streak gonads, and infertility,
DE   whereas affected males show normal pubertal development and are
DE   fertile.
DR   MIM; 614926; phenotype.
DR   MedGen; C3554105.
DR   MedGen; CN160612.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perrault syndrome 3.
AC   DI-03818
AR   PRLTS3.
DE   A sex-influenced disorder characterized by sensorineural deafness in
DE   both males and females, and ovarian dysgenesis in females. Affected
DE   females have primary amenorrhea, streak gonads, and infertility,
DE   whereas affected males show normal pubertal development and are
DE   fertile. A spectrum of additional clinical features, including
DE   cerebellar ataxia, learning disability, and peripheral neuropathy,
DE   have been described in some PRLTS3 affected individuals.
DR   MIM; 614129; phenotype.
DR   MedGen; C2681413.
DR   MedGen; C3808414.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perrault syndrome 4.
AC   DI-03819
AR   PRLTS4.
DE   An autosomal recessive, sex-influenced disorder characterized by
DE   sensorineural deafness in both males and females, and ovarian
DE   dysgenesis in females. Affected females have primary amenorrhea,
DE   streak gonads, and infertility, whereas affected males show normal
DE   pubertal development and are fertile.
DR   MIM; 615300; phenotype.
DR   MedGen; C3809105.
DR   MedGen; CN177835.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perrault syndrome 5.
AC   DI-04281
AR   PRLTS5.
DE   A form of Perrault syndrome, a sex-influenced disorder characterized
DE   by sensorineural deafness in both males and females, and ovarian
DE   dysgenesis in females. Affected females have primary amenorrhea,
DE   streak gonads, and infertility, whereas affected males show normal
DE   pubertal development and are fertile.
DR   MIM; 616138; phenotype.
DR   MedGen; CN224077.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perrault syndrome 6.
AC   DI-05039
AR   PRLTS6.
DE   A form of Perrault syndrome, a sex-influenced disorder characterized
DE   by sensorineural deafness in both males and females, and ovarian
DE   dysgenesis in females. Affected females have primary amenorrhea,
DE   streak gonads, and infertility, whereas affected males show normal
DE   pubertal development and are fertile. PRLTS6 inheritance is autosomal
DE   recessive.
DR   MIM; 617565; phenotype.
DR   MedGen; CN314202.
DR   MeSH; D006319.
DR   MeSH; D023961.
KW   KW-0209:Deafness.
//
ID   Perry syndrome.
AC   DI-02797
AR   PERRYS.
DE   A neuropsychiatric disorder characterized by mental depression not
DE   responsive to antidepressant drugs or electroconvulsive therapy, sleep
DE   disturbances, exhaustion and marked weight loss. Parkinsonism develops
DE   later and respiratory failure occurred terminally.
SY   Parkinsonism with alveolar hypoventilation and mental depression.
DR   MIM; 168605; phenotype.
DR   MedGen; C1868594.
DR   MeSH; D003863.
DR   MeSH; D007040.
DR   MeSH; D020734.
KW   KW-0908:Parkinsonism.
//
ID   Persistent hyperplastic primary vitreous, autosomal recessive.
AC   DI-03277
AR   PHPVAR.
DE   A developmental eye malformation associated with microphthalmia,
DE   cataract, glaucoma, and congenital retinal non-attachment. It is due
DE   to failure of the primary vitreous to regress in utero, resulting in
DE   the presence of a retrolental fibrovascular membrane with persistence
DE   of the posterior portion of the tunica vasculosa lentis and hyaloid
DE   artery. Disease manifestations range from a trivial remnant of hyaloid
DE   vessels to a dense fibrovascular mass causing lens opacity and retinal
DE   detachment.
SY   Congenital non-syndromic retinal non-attachment.
SY   NCRNA.
SY   Persistent fetal vasculature.
SY   Retinal detachment congenital.
SY   Retinal non-attachment and falciform detachment.
SY   RNANC.
DR   MIM; 221900; phenotype.
DR   MedGen; C1857299.
DR   MeSH; D012163.
//
ID   Persistent Muellerian duct syndrome 1.
AC   DI-02155
AR   PMDS1.
DE   A form of male pseudohermaphroditism characterized by a failure of
DE   Muellerian duct regression in otherwise normal males.
SY   Persistent Muellerian duct syndrome type I.
SY   PMDS-1.
DR   MIM; 261550; phenotype.
DR   MedGen; C1849930.
//
ID   Persistent Muellerian duct syndrome 2.
AC   DI-02156
AR   PMDS2.
DE   A form of male pseudohermaphroditism characterized by a failure of
DE   Muellerian duct regression in otherwise normal males.
SY   Persistent Muellerian duct syndrome type II.
SY   PMDS-2.
DR   MIM; 261550; phenotype.
DR   MedGen; C1849930.
//
ID   Persistent polyclonal B-cell lymphocytosis.
AC   DI-03717
AR   PPBL.
DE   An autosomal dominant condition characterized by onset in infancy of
DE   splenomegaly and polyclonal expansion of B cells, resulting in
DE   peripheral lymphocytosis. Affected individuals also show mild immune
DE   dysfunction, including some defective antibody responses and T-cell
DE   anergy. There may be a predisposition to the development of B-cell
DE   malignancy.
DR   MIM; 606445; phenotype.
DR   MedGen; C1847973.
DR   MeSH; D008218.
//
ID   Peters-plus syndrome.
AC   DI-02158
AR   PTRPLS.
DE   An autosomal recessive disorder characterized by anterior eye-chamber
DE   abnormalities, disproportionate short stature, developmental delay,
DE   characteristic craniofacial features, cleft lip and/or palate.
SY   Krause-Kivlin syndrome.
SY   Peters anomaly with short-limb dwarfism.
DR   MIM; 261540; phenotype.
DR   MedGen; C0796012.
DR   MeSH; D002971.
DR   MeSH; D006130.
DR   MeSH; D017880.
KW   KW-0242:Dwarfism.
//
ID   Pettigrew syndrome.
AC   DI-04207
AR   PGS.
DE   An X-linked syndrome characterized by intellectual disability and
DE   additional highly variable features, including choreoathetosis,
DE   hydrocephalus, Dandy-Walker malformation, seizures, and iron or
DE   calcium deposition in the brain. Intellectual disability is
DE   characterized by significantly below average general intellectual
DE   functioning associated with impairments in adaptive behavior and
DE   manifested during the developmental period.
SY   MRX59.
SY   MRXS21.
SY   MRXS5.
SY   MRXSF.
DR   MIM; 304340; phenotype.
DR   MedGen; C0796254.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Peutz-Jeghers syndrome.
AC   DI-00923
AR   PJS.
DE   An autosomal dominant disorder characterized by melanocytic macules of
DE   the lips, multiple gastrointestinal hamartomatous polyps and an
DE   increased risk for various neoplasms, including gastrointestinal
DE   cancer.
SY   Intestinal hamartomatous polyposis.
SY   Polyps-and-spots syndrome.
DR   MIM; 175200; phenotype.
DR   MedGen; C0031269.
DR   MeSH; D010580.
//
ID   Pfeiffer syndrome.
AC   DI-00924
AR   PS.
DE   A syndrome characterized by the association of craniosynostosis, broad
DE   and deviated thumbs and big toes, and partial syndactyly of the
DE   fingers and toes. Three subtypes are known: mild autosomal dominant
DE   form (type 1); cloverleaf skull, elbow ankylosis, early death,
DE   sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
SY   Acrocephalosyndactyly type 5.
SY   ACS5.
SY   ACS V.
DR   MIM; 101600; phenotype.
DR   MedGen; C0220658.
DR   MedGen; C1863356.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Phelan-McDermid syndrome.
AC   DI-03945
AR   PHMDS.
DE   A developmental disorder with variable features. Common features
DE   include neonatal hypotonia, global developmental delay, normal to
DE   accelerated growth, absent to severely delayed speech, autistic
DE   behavior, and minor dysmorphic features.
SY   Chromosome 22q13.3 deletion syndrome.
SY   Telomeric 22q13 monosomy syndrome.
DR   MIM; 606232; phenotype.
DR   MedGen; C1853490.
DR   MedGen; C2931332.
DR   MeSH; D002872.
//
ID   Phenylketonuria.
AC   DI-02159
AR   PKU.
DE   Autosomal recessive inborn error of phenylalanine metabolism, due to
DE   severe phenylalanine hydroxylase deficiency. It is characterized by
DE   blood concentrations of phenylalanine persistently above 1200 mumol
DE   (normal concentration 100 mumol) which usually causes intellectual
DE   disability (unless low phenylalanine diet is introduced early in
DE   life). They tend to have light pigmentation, rashes similar to eczema,
DE   epilepsy, extreme hyperactivity, psychotic states and an unpleasant
DE   'mousy' odor.
DR   MIM; 261600; phenotype.
DR   MedGen; C0031485.
DR   MedGen; C0085547.
DR   MedGen; C0751434.
DR   MedGen; C2678416.
//
ID   Pheochromocytoma.
AC   DI-02160
AR   PCC.
DE   A catecholamine-producing tumor of chromaffin tissue of the adrenal
DE   medulla or sympathetic paraganglia. The cardinal symptom, reflecting
DE   the increased secretion of epinephrine and norepinephrine, is
DE   hypertension, which may be persistent or intermittent.
SY   Chromaffin cell tumor.
SY   Medullary chromaffinoma.
SY   Medullary paraganglioma.
SY   Pheochromoblastoma.
DR   MIM; 171300; phenotype.
DR   MedGen; C0031511.
DR   MedGen; C3149711.
DR   MeSH; D010673.
//
ID   Pheochromocytoma/paraganglioma syndrome 1.
AC   DI-01733
AR   PPGL1.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL1 inheritance is autosomal
DE   dominant.
SY   Carotid body tumors.
SY   CBT1.
SY   Chemodectomas.
SY   Familial non-chromaffin paragangliomas 1.
SY   Familial paragangliomas non-chromaffin 1 with or without deafness.
SY   Glomus jugulare tumors.
SY   Glomus tumors familial 1.
SY   Paraganglioma carotid body.
SY   Paragangliomas familial 1.
SY   Paragangliomata.
SY   PGL.
SY   PGL1.
DR   MIM; 168000; phenotype.
DR   MedGen; C0007279.
DR   MedGen; C0017671.
DR   MedGen; C0030421.
DR   MedGen; C0030422.
DR   MedGen; C1868633.
DR   MedGen; C3494181.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 2.
AC   DI-01734
AR   PPGL2.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL2 inheritance is autosomal
DE   dominant.
SY   Familial non-chromaffin paragangliomas 2.
SY   Glomus tumors familial 2.
SY   Paragangliomas 2.
SY   PGL2.
DR   MIM; 601650; phenotype.
DR   MedGen; C1866552.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 3.
AC   DI-01218
AR   PPGL3.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL3 inheritance is autosomal
DE   dominant.
SY   Familial non-chromaffin paragangliomas 3.
SY   Glomus tumors, familial, 3.
SY   Paragangliomas 3.
SY   PGL3.
DR   MIM; 605373; phenotype.
DR   MedGen; C1854336.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 4.
AC   DI-01735
AR   PPGL4.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL4 inheritance is autosomal
DE   dominant.
SY   Carotid body tumors and multiple extraadrenal pheochromocytomas.
SY   Familial chromaffin paraganglioma 4.
SY   Paraganglioma familial malignant.
SY   Paragangliomas 4.
SY   Paragangliomas hereditary extraadrenal.
SY   PGL4.
SY   Pheochromocytoma extraadrenal and cervical paraganglioma.
SY   Pheochromocytoma familial extraadrenal.
DR   MIM; 115310; phenotype.
DR   MedGen; C1861848.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 5.
AC   DI-03195
AR   PPGL5.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL5 inheritance is autosomal
DE   dominant.
SY   Paragangliomas 5.
SY   PGL5.
DR   MIM; 614165; phenotype.
DR   MedGen; C3279992.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 6.
AC   DI-05590
AR   PPGL6.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL6 inheritance is autosomal
DE   dominant.
SY   Paragangliomas 6.
SY   PGL6.
DR   MIM; 618464; phenotype.
DR   MedGen; CN260169.
DR   MeSH; D010235.
//
ID   Pheochromocytoma/paraganglioma syndrome 7.
AC   DI-05591
AR   PPGL7.
DE   A form of pheochromocytoma/paraganglioma syndrome, a tumor
DE   predisposition syndrome characterized by the development of
DE   neuroendocrine tumors, usually in adulthood. Pheochromocytomas are
DE   catecholamine-producing tumors that arise from chromaffin cells in the
DE   adrenal medulla. Paragangliomas develop from sympathetic paraganglia
DE   in the thorax, abdomen, and pelvis, as well as from parasympathetic
DE   paraganglia in the head and neck. PPGL7 tumors are generally benign,
DE   tend to be abdominal, and often secrete normetanephrine. PPGL7
DE   inheritance is autosomal dominant.
SY   Paragangliomas 7.
SY   PGL7.
DR   MIM; 618475; phenotype.
DR   MedGen; CN260173.
DR   MeSH; D010235.
//
ID   Phosphoenolpyruvate carboxykinase deficiency, cytosolic.
AC   DI-01470
AR   PCKDC.
DE   An autosomal recessive metabolic disorder characterized by impaired
DE   gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic
DE   dysfunction, failure to thrive, lactic acidosis, and elevated
DE   tricarboxylic acid intermediates, particularly fumarate, in urine.
SY   PCK1 deficiency, cytosolic.
SY   PEPCK deficiency, cytosolic.
DR   MIM; 261680; phenotype.
DR   MedGen; C0268194.
DR   MeSH; D002239.
//
ID   Phosphoglycerate dehydrogenase deficiency.
AC   DI-02161
AR   PHGDHD.
DE   An autosomal recessive inborn error of L-serine biosynthesis,
DE   clinically characterized by congenital microcephaly, psychomotor
DE   retardation, and seizures.
SY   PHGDH deficiency.
DR   MIM; 601815; phenotype.
DR   MedGen; C1866174.
DR   MeSH; D000592.
//
ID   Phosphoglycerate kinase 1 deficiency.
AC   DI-02753
AR   PGK1D.
DE   A condition with a highly variable clinical phenotype that includes
DE   hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement.
DE   Patients can express one or more of these manifestations.
SY   PGK1 deficiency.
DR   MIM; 300653; phenotype.
DR   MedGen; C1970848.
DR   MeSH; D000743.
DR   MeSH; D009212.
DR   MeSH; D020739.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Phosphohydroxylysinuria.
AC   DI-03669
AR   PHLU.
DE   A condition characterized by elevated phosphohydroxylysine in the
DE   urine. There is no clinical phenotype associated with this finding
DE   other than the urinary metabolites.
DR   MIM; 615011; phenotype.
DR   MedGen; C3554344.
DR   MedGen; CN164368.
DR   MeSH; D008661.
//
ID   Phosphoribosylaminoimidazole carboxylase deficiency.
AC   DI-06408
AR   PAICSD.
DE   An autosomal recessive inborn error of purine metabolism, clinically
DE   characterized by multiple congenital anomalies and early neonatal
DE   death.
DR   MIM; 619859; phenotype.
DR   MedGen; CN312014.
DR   MeSH; D011686.
//
ID   Phosphoribosylpyrophosphate synthetase superactivity.
AC   DI-02162
AR   PRPS1 superactivity.
DE   Familial disorder characterized by excessive purine production, gout
DE   and uric acid urolithiasis.
SY   PRPS-related gout.
DR   MIM; 300661; phenotype.
DR   MedGen; C1839469.
DR   MedGen; C1970827.
//
ID   Phosphoserine aminotransferase deficiency.
AC   DI-02163
AR   PSATD.
DE   Characterized biochemically by low plasma and cerebrospinal fluid
DE   concentrations of serine and glycine and clinically by intractable
DE   seizures, acquired microcephaly, hypertonia, and psychomotor
DE   retardation.
DR   MIM; 610992; phenotype.
DR   MedGen; C1970253.
//
ID   Phosphoserine phosphatase deficiency.
AC   DI-00010
AR   PSPHD.
DE   An autosomal recessive disorder that results in pre- and postnatal
DE   growth retardation, moderate psychomotor retardation and facial
DE   features suggestive of Williams syndrome.
DR   MIM; 614023; phenotype.
DR   MedGen; C1291463.
DR   MeSH; D000592.
//
ID   Pick disease of the brain.
AC   DI-02937
AR   PIDB.
DE   A rare form of dementia pathologically defined by severe atrophy,
DE   neuronal loss and gliosis. It is characterized by the occurrence of
DE   tau-positive inclusions, swollen neurons (Pick cells) and
DE   argentophilic neuronal inclusions known as Pick bodies that
DE   disproportionally affect the frontal and temporal cortical regions.
DE   Clinical features include aphasia, apraxia, confusion, anomia, memory
DE   loss and personality deterioration.
SY   Dementia with lobar atrophy and neuronal cytoplasmic inclusions.
SY   Lobar atrophy of brain.
DR   MIM; 172700; phenotype.
DR   MedGen; C0236642.
DR   MeSH; D020774.
KW   KW-0523:Neurodegeneration.
//
ID   Piebald trait.
AC   DI-02164
AR   PBT.
DE   Autosomal dominant genetic developmental abnormality of pigmentation
DE   characterized by congenital patches of white skin and hair that lack
DE   melanocytes.
SY   Piebaldism.
DR   MIM; 172800; phenotype.
DR   MedGen; C0080024.
//
ID   Pierpont syndrome.
AC   DI-04736
AR   PRPTS.
DE   An autosomal dominant syndrome characterized by multiple congenital
DE   anomalies, global developmental delay, learning disability, palmar and
DE   plantar fat pads, and distinctive facial characteristics, especially
DE   when smiling.
SY   Plantar lipomatosis, unusual facies, and developmental delay.
DR   MIM; 602342; phenotype.
DR   MedGen; C1865644.
DR   MeSH; D002658.
DR   MeSH; D008068.
DR   MeSH; D019066.
//
ID   Pierson syndrome.
AC   DI-02165
AR   PIERS.
DE   An autosomal recessive disorder characterized by nephrotic syndrome
DE   with neonatal onset, diffuse mesangial sclerosis, and eye
DE   abnormalities with microcoria and hypoplasia of the ciliary and
DE   pupillary muscles. Death usually occurs within the first weeks of
DE   life. Patients who survive tend to show neurodevelopmental delay and
DE   visual loss.
SY   Microcoria-congenital nephrotic syndrome.
DR   MIM; 609049; phenotype.
DR   MedGen; C1836876.
DR   MeSH; D005128.
DR   MeSH; D009404.
//
ID   Pigmentary disorder, reticulate, with systemic manifestations, X-linked.
AC   DI-04788
AR   PDR.
DE   An X-linked recessive disorder characterized by recurrent infections
DE   and sterile inflammation in various organs. Diffuse skin
DE   hyperpigmentation with a distinctive reticulate pattern is universally
DE   evident by early childhood. This is later followed in many patients by
DE   hypohidrosis, corneal inflammation and scarring, enterocolitis that
DE   resembles inflammatory bowel disease, and recurrent urethral
DE   strictures. Melanin and amyloid deposition is present in the dermis.
DE   Affected males also have a characteristic facies with frontally
DE   upswept hair and flared eyebrows. Female carriers have only restricted
DE   pigmentary changes along Blaschko's lines.
SY   XLPDR.
DR   MIM; 301220; phenotype.
DR   MedGen; C1845050.
DR   MeSH; D000686.
DR   MeSH; D010859.
//
ID   Pigmented paravenous chorioretinal atrophy.
AC   DI-02166
AR   PPCRA.
DE   Unusual retinal degeneration characterized by accumulation of
DE   pigmentation along retinal veins. PPCRA is dominantly inherited, but
DE   exhibited variable expressivity. Males are more likely to exhibit a
DE   severe phenotype, whereas females may remain virtually asymptomatic
DE   even in later years. The PPCRA phenotype is associated with a mutation
DE   in CRB1 gene which is likely to affect the structure of the CRB1
DE   protein.
DR   MIM; 172870; phenotype.
DR   MedGen; C1868310.
//
ID   Pilarowski-Bjornsson syndrome.
AC   DI-05102
AR   PILBOS.
DE   An autosomal dominant disorder characterized by developmental delay,
DE   speech apraxia, intellectual disability, autism, and facial dysmorphic
DE   features. Some patients may have seizures.
SY   Developmental delay and speech apraxia with or without seizures.
DR   MIM; 617682; phenotype.
DR   MedGen; CN482172.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Pilomatrixoma.
AC   DI-02167
AR   PTR.
DE   Common benign skin tumor.
DR   MIM; 132600; phenotype.
DR   MedGen; C0206711.
//
ID   Pitt-Hopkins syndrome.
AC   DI-02168
AR   PTHS.
DE   A syndrome characterized by intellectual disability, wide mouth and
DE   distinctive facial features, and intermittent hyperventilation
DE   followed by apnea. Features include intellectual disability with
DE   severe speech impairment, normal growth parameters at birth, postnatal
DE   microcephaly, breathing anomalies, severe motor developmental delay,
DE   motor incoordination, ocular anomalies, constipation, seizures,
DE   typical behavior and subtle brain abnormalities.
SY   Encephalopathy severe epileptic with autonomic dysfunction.
DR   MIM; 610954; phenotype.
DR   MedGen; C1970431.
DR   MeSH; D006985.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Pitt-Hopkins-like syndrome 1.
AC   DI-03300
AR   PTHSL1.
DE   A syndrome characterized by severe intellectual disability and
DE   variable additional symptoms, such as impaired speech development,
DE   seizures, autistic behavior, breathing anomalies and a broad mouth,
DE   resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-
DE   Hopkins syndrome, PTHSL1 patients present with normal or only mildly
DE   to moderately delayed motor milestones.
SY   MeSH; D006985.
SY   MeSH; D008607.
DR   MIM; 610042; phenotype.
DR   MedGen; C2750246.
KW   KW-0991:Intellectual disability.
//
ID   Pitt-Hopkins-like syndrome 2.
AC   DI-03301
AR   PTHSL2.
DE   A syndrome characterized by severe intellectual disability and
DE   variable additional symptoms, such as impaired speech development,
DE   autistic behavior, breathing anomalies and a broad mouth, resembling
DE   Pitt-Hopkins syndrome. Other features include decreased reflexes in
DE   the upper extremities, constipation, strabismus, and protruding tongue
DE   with drooling. In contrast to patients with Pitt-Hopkins syndrome,
DE   PTHSL2 patients present with normal or only mildly to moderately
DE   delayed motor milestones.
SY   MeSH; D006985.
SY   MeSH; D008607.
DR   MIM; 614325; phenotype.
DR   MedGen; C3280479.
KW   KW-0991:Intellectual disability.
//
ID   Pituitary adenoma 1, multiple types.
AC   DI-01689
AR   PITA1.
DE   A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE   of the most common neuroendocrine tumors. Pituitary adenomas are
DE   clinically classified as functional and non-functional tumors, and
DE   manifest with a variety of features, including local invasion of
DE   surrounding structures and excessive hormone secretion. Functional
DE   pituitary adenomas are further classified by the type of hormone they
DE   secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE   adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone
DE   (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE   sporadic forms have been reported.
SY   Acromegaly due to pituitary adenoma.
SY   Acromegaly due to pituitary adenoma 1.
SY   Familial isolated pituitary adenoma.
SY   Familial isolated somatotropinomas.
SY   Familial somatotrophinoma.
SY   FIPA.
SY   FIS.
SY   IFS.
SY   Isolated familial somatotropinoma.
SY   PAGH1.
SY   Pituitary adenoma, growth hormone-secreting, 1.
DR   MIM; 102200; phenotype.
DR   MedGen; C0346302.
DR   MedGen; C1863340.
DR   MedGen; C2676191.
DR   MedGen; C3489630.
DR   MeSH; D000172.
DR   MeSH; D049912.
//
ID   Pituitary adenoma 2, growth hormone-secreting.
AC   DI-04304
AR   PITA2.
DE   A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE   of the most common neuroendocrine tumors. Pituitary adenomas are
DE   clinically classified as functional and non-functional tumors, and
DE   manifest with a variety of features, including local invasion of
DE   surrounding structures and excessive hormone secretion. Functional
DE   pituitary adenomas are further classified by the type of hormone they
DE   secrete. PITA2 is a growth hormone-secreting benign neoplasm, also
DE   known as somatotropinoma. It clinically results in acromegaly, a
DE   condition characterized by coarse facial features, protruding jaw, and
DE   enlarged extremities. Excessive production of growth hormone in
DE   children or adolescents before the closure of epiphyses causes
DE   gigantism, a condition characterized by abnormally tall stature.
SY   Acromegaly, X-linked.
SY   Acromegaly due to pituitary adenoma 2.
DR   MIM; 300943; phenotype.
DR   MedGen; C4012409.
DR   MeSH; D000172.
DR   MeSH; D049912.
//
ID   Pituitary adenoma 3, multiple types.
AC   DI-05088
AR   PITA3.
DE   A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE   of the most common neuroendocrine tumors. Pituitary adenomas are
DE   clinically classified as functional and non-functional tumors, and
DE   manifest with a variety of features, including local invasion of
DE   surrounding structures and excessive hormone secretion. Functional
DE   pituitary adenomas are further classified by the type of hormone they
DE   secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE   adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone
DE   (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE   sporadic forms have been reported.
DR   MIM; 617686; phenotype.
DR   MedGen; CN495005.
DR   MeSH; D010911.
//
ID   Pituitary adenoma 4, ACTH-secreting.
AC   DI-01168
AR   PITA4.
DE   A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE   of the most common neuroendocrine tumors. Pituitary adenomas are
DE   clinically classified as functional and non-functional tumors, and
DE   manifest with a variety of features, including local invasion of
DE   surrounding structures and excessive hormone secretion. Functional
DE   pituitary adenomas are further classified by the type of hormone they
DE   secrete. PITA4 results in excessive production of adrenocorticotropic
DE   hormone. This leads to hypersecretion of cortisol by the adrenal
DE   glands and ACTH-dependent Cushing syndrome. Clinical manifestations of
DE   Cushing syndrome include facial and truncal obesity, abdominal striae,
DE   muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY   Cushing disease.
SY   Pituitary Cushing disease.
DR   MIM; 219090; phenotype.
DR   MedGen; C0221406.
DR   MeSH; D049913.
KW   KW-1062:Cushing syndrome.
//
ID   Pituitary adenoma 5, multiple types.
AC   DI-05087
AR   PITA5.
DE   A form of pituitary adenoma, a neoplasm of the pituitary gland and one
DE   of the most common neuroendocrine tumors. Pituitary adenomas are
DE   clinically classified as functional and non-functional tumors, and
DE   manifest with a variety of features, including local invasion of
DE   surrounding structures and excessive hormone secretion. Functional
DE   pituitary adenomas are further classified by the type of hormone they
DE   secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting,
DE   adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone
DE   (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and
DE   sporadic forms have been reported. The transmission pattern of
DE   familial PITA5 is consistent with autosomal dominant inheritance with
DE   reduced penetrance.
DR   MIM; 617540; phenotype.
DR   MedGen; CN432550.
DR   MeSH; D010911.
//
ID   Pituitary hormone deficiency, combined or isolated, 7.
AC   DI-05359
AR   CPHD7.
DE   An autosomal recessive deficiency of growth hormone characterized by
DE   severe postnatal growth failure, delayed bone age without bone
DE   dysplasia, and hypoplasia of the anterior pituitary.
SY   Growth hormone deficiency, isolated, 5.
SY   Growth hormone deficiency, isolated, type V.
SY   IGHD5.
SY   Isolated growth hormone deficiency, type V.
DR   MIM; 618160; phenotype.
DR   MedGen; CN257749.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined or isolated, 8.
AC   DI-06636
AR   CPHD8.
DE   An autosomal dominant disorder characterized by short stature due to
DE   growth hormone deficiency, variable deficiencies of other pituitary
DE   hormones, and pituitary abnormalities. Many CPHD8 patients present
DE   with pituitary stalk interruption syndrome that is characterized by
DE   pituitary gland insufficiency, thin or discontinuous pituitary stalk,
DE   anterior pituitary hypoplasia, and ectopic positioning of the
DE   posterior pituitary gland.
DR   MIM; 620303; phenotype.
DR   MedGen; CN323743.
DR   MeSH; D004393.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 1.
AC   DI-01563
AR   CPHD1.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD1 is characterized by pleiotropic
DE   deficiencies of growth hormone, prolactin and thyroid-stimulating
DE   hormone, while the production of adrenocorticotropic hormone,
DE   luteinizing hormone, and follicle-stimulating hormone are preserved.
DE   In infancy severe growth deficiency from birth as well as distinctive
DE   facial features with prominent forehead, marked midfacial hypoplasia
DE   with depressed nasal bridge, deep-set eyes, and a short nose with
DE   anteverted nostrils and hypoplastic pituitary gland by MRI examination
DE   can be seen. Some cases present with severe intellectual disability
DE   along with short stature.
DR   MIM; 613038; phenotype.
DR   MedGen; C2751608.
DR   MeSH; D007018.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 2.
AC   DI-01369
AR   CPHD2.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD2 is characterized by pleiotropic
DE   deficiencies of growth hormone, thyroid-stimulating hormone, follicle-
DE   stimulating hormone, luteinizing hormone, prolactin and
DE   adrenocorticotropic hormone.
SY   Ateliotic dwarfism with hypogonadism.
SY   Hanhart dwarfism.
SY   Panhypopituitarism.
SY   Pituitary dwarfism III.
DR   MIM; 262600; phenotype.
DR   MedGen; C0878683.
DR   MeSH; D007018.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 3.
AC   DI-02580
AR   CPHD3.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD3 is characterized by a complete
DE   deficit in all but one (adrenocorticotropin) anterior pituitary
DE   hormone and a rigid cervical spine leading to limited head rotation.
SY   Combined pituitary hormone deficiency with rigid cervical spine.
SY   Sensorineural deafness with pituitary dwarfism.
DR   MIM; 221750; phenotype.
DR   MedGen; C1857330.
DR   MedGen; C3489787.
DR   MeSH; D007018.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 4.
AC   DI-02299
AR   CPHD4.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD4 is characterized by complete or
DE   partial deficiencies of growth hormone, thyroid-stimulating hormone,
DE   luteinizing hormone, follicle stimulating hormone and
DE   adrenocorticotropic hormone. Clinical features include short stature,
DE   cerebellar defects, and small sella turcica.
SY   Pituitary hormone deficiency combined with or without cerebellar defects.
SY   Short stature pituitary and cerebellar defects and small sella turcica.
DR   MIM; 262700; phenotype.
DR   MedGen; C2678408.
DR   MeSH; D007018.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 5.
AC   DI-02582
AR   CPHD5.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD5 is characterized by complete or
DE   partial deficiencies of growth hormone, thyroid-stimulating hormone,
DE   luteinizing hormone, follicle stimulating hormone and
DE   adrenocorticotropic hormone.
DR   MIM; 182230; phenotype.
DR   MedGen; C2750026.
DR   MeSH; D007018.
KW   KW-0242:Dwarfism.
//
ID   Pituitary hormone deficiency, combined, 6.
AC   DI-03174
AR   CPHD6.
DE   Combined pituitary hormone deficiency is defined as the impaired
DE   production of growth hormone and one or more of the other five
DE   anterior pituitary hormones. CPHD6 patients manifest neonatal
DE   hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating
DE   hormone, luteinizing hormone, follicle stimulating hormone and
DE   adrenocorticotropic hormone.
DR   MIM; 613986; phenotype.
DR   MedGen; C3151440.
DR   MeSH; D007018.
//
ID   Pityriasis rubra pilaris.
AC   DI-03513
AR   PRP.
DE   A rare, papulosquamous skin disease characterized by the appearance of
DE   keratotic follicular papules, well-demarcated salmon-colored
DE   erythematous plaques covered with fine powdery scales interspersed
DE   with distinct islands of uninvolved skin, and palmoplantar
DE   keratoderma. Most cases are sporadic. The rare familial cases show
DE   autosomal dominant inheritance with incomplete penetrance and variable
DE   expression. Familial PRP usually presents at birth or appears during
DE   the first years of life and runs a chronic course. It is characterized
DE   by prominent follicular hyperkeratosis, diffuse palmoplantar
DE   keratoderma, and erythema.
DR   MIM; 173200; phenotype.
DR   MedGen; C0032027.
DR   MeSH; D010916.
//
ID   Plasminogen activator inhibitor-1 deficiency.
AC   DI-02169
AR   PAI-1D.
DE   A hematologic disorder characterized by increased bleeding after
DE   trauma, injury, or surgery. Affected females have menorrhagia. The
DE   bleeding defect is due to increased fibrinolysis of fibrin blood clots
DE   due to deficiency of plasminogen activator inhibitor-1, which inhibits
DE   tissue and urinary activators of plasminogen.
DR   MIM; 613329; phenotype.
DR   MedGen; C2750067.
DR   MeSH; D025861.
//
ID   Plasminogen deficiency.
AC   DI-02666
AR   PLGD.
DE   A disorder characterized by decreased serum plasminogen activity. Two
DE   forms of the disorder are distinguished: type 1 deficiency is
DE   additionally characterized by decreased plasminogen antigen levels and
DE   clinical symptoms, whereas type 2 deficiency, also known as
DE   dysplasminogenemia, is characterized by normal, or slightly reduced
DE   antigen levels, and absence of clinical manifestations. Plasminogen
DE   deficiency type 1 results in markedly impaired extracellular
DE   fibrinolysis and chronic mucosal pseudomembranous lesions due to
DE   subepithelial fibrin deposition and inflammation. The most common
DE   clinical manifestation of type 1 deficiency is ligneous conjunctivitis
DE   in which pseudomembranes formation on the palpebral surfaces of the
DE   eye progresses to white, yellow-white, or red thick masses with a
DE   wood-like consistency that replace the normal mucosa.
SY   Dysplasminogenemia.
SY   Hypoplasminogenemia.
SY   Ligneous conjunctivitis.
SY   Plasminogen deficiency type I.
SY   Plasminogen deficiency type II.
DR   MIM; 217090; phenotype.
DR   MedGen; C0521808.
DR   MedGen; C1274789.
DR   MedGen; C1968804.
DR   MeSH; D003231.
//
ID   Platelet glycoprotein IV deficiency.
AC   DI-02170
AR   PG4D.
DE   A disorder characterized by macrothrombocytopenia without notable
DE   hemostatic problems and bleeding tendency. Platelet glycoprotein IV
DE   deficiency can be divided into 2 subgroups. The type I phenotype is
DE   characterized by platelets and monocytes/macrophages exhibiting
DE   complete CD36 deficiency. The type II phenotype lacks the surface
DE   expression of CD36 in platelets, but expression in
DE   monocytes/macrophages is near normal.
SY   BDPLT10.
SY   Bleeding disorder platelet-type 10.
SY   CD36 deficiency.
DR   MIM; 608404; phenotype.
DR   MedGen; C1842090.
DR   MeSH; D013921.
//
ID   Platelet-activating factor acetylhydrolase deficiency.
AC   DI-02171
AR   PAFAD.
DE   An enzymatic deficiency that results in exacerbated bodily response to
DE   inflammatory agents. It can be associated with several disease states
DE   including inflammatory gastrointestinal disorders, asthma and atopy.
DE   Asthmatic individuals with PAFAD may manifest aggravated respiratory
DE   symptoms.
DR   MIM; 614278; phenotype.
DR   MedGen; C1866472.
DR   MedGen; C3280315.
DR   MeSH; D006969.
//
ID   Platyspondylic lethal skeletal dysplasia Torrance type.
AC   DI-02173
AR   PLSD-T.
DE   Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous
DE   group of chondrodysplasias characterized by severe platyspondyly and
DE   limb shortening. PLSD-T is characterized by varying platyspondyly,
DE   short ribs with anterior cupping, hypoplasia of the lower ilia with
DE   broad ischial and pubic bones, and shortening of the tubular bones
DE   with splayed and cupped metaphyses. Histology of the growth plate
DE   typically shows focal hypercellularity with slightly enlarged
DE   chondrocytes in the resting cartilage and relatively well-preserved
DE   columnar formation and ossification at the chondro-osseous junction.
DE   PLSD-T is generally a perinatally lethal disease, but a few long-term
DE   survivors have been reported.
DR   MIM; 151210; phenotype.
DR   MedGen; C1835437.
DR   MedGen; C1835439.
//
ID   Pleuropulmonary blastoma.
AC   DI-02550
AR   PPB.
DE   A rare pediatric intrathoracic neoplasm. The tumor arises from the
DE   lung, pleura, or both, and appears to be purely mesenchymal in
DE   phenotype. It lacks malignant epithelial elements, a feature that
DE   distinguishes it from the classic adult-type pulmonary blastoma. It
DE   arises during fetal lung development and is often part of an inherited
DE   cancer syndrome. The tumor contain both epithelial and mesenchymal
DE   cells. Early in tumorigenesis, cysts form in lung airspaces, and these
DE   cysts are lined with benign-appearing epithelium. Mesenchymal cells
DE   susceptible to malignant transformation reside within the cyst walls
DE   and form a dense layer beneath the epithelial lining. In a subset of
DE   patients, overgrowth of the mesenchymal cells produces a sarcoma, a
DE   transition that is associated with a poorer prognosis. Some patients
DE   have multilocular cystic nephroma, a benign kidney tumor.
SY   PPB familial tumor and dysplasia syndrome.
SY   PPBFTDS.
DR   MIM; 601200; phenotype.
DR   MedGen; C1266144.
DR   MeSH; D012142.
//
ID   Poikiloderma with neutropenia.
AC   DI-02620
AR   PN.
DE   A genodermatosis characterized by poikiloderma, pachyonychia and
DE   chronic neutropenia. The disorder starts as a papular erythematous
DE   rash on the limbs during the first year of life. It gradually spreads
DE   centripetally and, as the papular rash resolves, hypo- and
DE   hyperpigmentation result, with development of telangiectasias. Another
DE   skin manifestation is pachyonychia, but alopecia and leukoplakia are
DE   distinctively absent. Patients have recurrent pneumonias that usually
DE   result in reactive airway disease and/or chronic cough. One of the
DE   most important extracutaneous symptoms is an increased susceptibility
DE   to infections, mainly affecting the respiratory system, primarily due
DE   to a chronic neutropenia and to neutrophil functional defects. Bone
DE   marrow abnormalities account for neutropenia and may evolve into
DE   myelodysplasia associated with the risk of leukemic transformation.
DE   Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-
DE   Thomson syndrome.
SY   Clericuzio-type poikiloderma neutropenia syndrome.
SY   Poikiloderma with neutropenia Clericuzio-type.
DR   MIM; 604173; phenotype.
DR   MedGen; C1858723.
DR   MeSH; D012868.
//
ID   Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.
AC   DI-04046
AR   POIKTMP.
DE   An autosomal dominant form of hereditary poikiloderma, a
DE   genodermatosis characterized by mottled pigmentation, telangiectasia,
DE   and epidermal atrophy. POIKTMP features include tendon contracture,
DE   myopathy, and progressive pulmonary fibrosis. It manifests from early
DE   childhood with telangiectasia and pigmentary anomalies especially on
DE   the face and sun-exposed areas, tendon contractures that particularly
DE   involve the ankles and feet causing gait disturbance, and development
DE   of pulmonary fibrosis during the second decade of life resulting in
DE   progressive dyspnea and restrictive impairment of lung function.
SY   Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.
DR   MIM; 615704; phenotype.
DR   MedGen; C3810325.
DR   MedGen; CN185373.
DR   MeSH; D003286.
DR   MeSH; D009135.
DR   MeSH; D011658.
//
ID   Poirier-Bienvenu neurodevelopmental syndrome.
AC   DI-05733
AR   POBINDS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   onset of seizures in infancy, developmental delay, impaired
DE   intellectual development, and poor or absent speech.
DR   MIM; 618732; phenotype.
DR   MedGen; CN263151.
DR   MeSH; D065886.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Polycystic kidney disease 1 with or without polycystic liver disease.
AC   DI-00925
AR   PKD1.
DE   An autosomal dominant disorder characterized by renal cysts, liver
DE   cysts and intracranial aneurysm. Clinical variability is due to
DE   differences in the rate of loss of glomerular filtration, the age of
DE   reaching end-stage renal disease and the occurrence of hypertension,
DE   symptomatic extrarenal cysts, and subarachnoid hemorrhage from
DE   intracranial 'berry' aneurysm.
SY   ADPKD.
SY   ADPKD1.
SY   Adult polycystic kidney disease type 1.
SY   Autosomal dominant polycystic kidney disease 1.
SY   PKD-1.
SY   Polycystic kidney disease adult.
SY   Polycystic kidney disease type I.
SY   Polycystic kidneys.
SY   Potter type III polycystic kidney disease.
DR   MIM; 173900; phenotype.
DR   MedGen; C0085413.
DR   MedGen; C1868148.
DR   MedGen; C3149841.
DR   MeSH; D007690.
DR   MeSH; D016891.
KW   KW-1186:Ciliopathy.
//
ID   Polycystic kidney disease 2 with or without polycystic liver disease.
AC   DI-00926
AR   PKD2.
DE   An autosomal dominant disorder characterized by progressive formation
DE   and enlargement of cysts in both kidneys, typically leading to end-
DE   stage renal disease in adult life. Cysts also occurs in the liver and
DE   other organs. It represents approximately 15% of the cases of
DE   autosomal dominant polycystic kidney disease. PKD2 is clinically
DE   milder than PKD1 but it has a deleterious impact on overall life
DE   expectancy.
SY   ADPKD2.
SY   Adult polycystic kidney disease type 2.
SY   Autosomal dominant polycystic kidney disease 2.
SY   PKD-2.
SY   Polycystic kidney disease adult type II.
DR   MIM; 613095; phenotype.
DR   MedGen; C2751306.
DR   MeSH; D007690.
DR   MeSH; D016891.
KW   KW-1186:Ciliopathy.
//
ID   Polycystic kidney disease 3 with or without polycystic liver disease.
AC   DI-04789
AR   PKD3.
DE   A form of polycystic kidney disease, a disorder characterized by
DE   progressive formation and enlargement of cysts in both kidneys,
DE   typically leading to end-stage renal disease in adult life. Cysts also
DE   occur in other organs, particularly the liver. PKD3 inheritance is
DE   autosomal dominant.
SY   APKD3.
SY   Polycystic kidney disease, adult, type III.
DR   MIM; 600666; phenotype.
DR   MedGen; C1418603.
DR   MedGen; C3887964.
DR   MeSH; D007690.
//
ID   Polycystic kidney disease 4, with or without polycystic liver disease.
AC   DI-00927
AR   PKD4.
DE   A severe form of polycystic kidney disease affecting the kidneys and,
DE   in some cases, the hepatic biliary tract. The clinical spectrum is
DE   widely variable, with most cases presenting during infancy. The fetal
DE   phenotypic features classically include enlarged and echogenic
DE   kidneys, as well as oligohydramnios secondary to a poor urine output.
DE   Up to 50% of the affected neonates die shortly after birth, as a
DE   result of severe pulmonary hypoplasia and secondary respiratory
DE   insufficiency. In the subset that survives the perinatal period,
DE   morbidity and mortality are mainly related to severe systemic
DE   hypertension, renal insufficiency, and portal hypertension due to
DE   portal-tract fibrosis. PKD4 inheritance is autosomal recessive.
SY   ARPKD.
SY   Infantile polycystic kidney disease type I.
SY   PKD3.
SY   PKHD1.
SY   Polycystic kidney and hepatic disease 1.
SY   Polycystic kidney disease, autosomal recessive.
SY   Polycystic kidney disease 4 with or without hepatic disease.
DR   MIM; 263200; phenotype.
DR   MedGen; C0009714.
DR   MedGen; C0085548.
DR   MeSH; D016767.
DR   MeSH; D017044.
KW   KW-1186:Ciliopathy.
//
ID   Polycystic kidney disease 5.
AC   DI-05069
AR   PKD5.
DE   A form of polycystic kidney disease, a disorder characterized by
DE   progressive formation and enlargement of cysts in both kidneys,
DE   typically leading to end-stage renal disease in adult life. Cysts may
DE   also occur in other organs, particularly the liver. PKD5 inheritance
DE   is autosomal recessive.
DR   MIM; 617610; phenotype.
DR   MedGen; CN381221.
DR   MeSH; D007690.
KW   KW-1186:Ciliopathy.
//
ID   Polycystic kidney disease 6 with or without polycystic liver disease.
AC   DI-05292
AR   PKD6.
DE   A form of polycystic kidney disease, a disorder characterized by
DE   progressive formation and enlargement of cysts in both kidneys,
DE   typically leading to end-stage renal disease in adult life. Cysts also
DE   occur in other organs, particularly the liver. PKD6 inheritance is
DE   autosomal dominant.
DR   MIM; 618061; phenotype.
DR   MedGen; CN252647.
DR   MeSH; D007690.
//
ID   Polycystic kidney disease 7.
AC   DI-06514
AR   PKD7.
DE   A form of polycystic kidney disease, a disorder characterized by
DE   progressive formation and enlargement of cysts in both kidneys,
DE   typically leading to end-stage renal disease in adult life. Cysts also
DE   occur in other organs, particularly the liver. PKD7 inheritance is
DE   autosomal dominant.
DR   MIM; 620056; phenotype.
DR   MedGen; CN322272.
DR   MeSH; D007690.
//
ID   Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1.
AC   DI-02174
AR   PLOSL1.
DE   A recessively inherited disease characterized by presenile dementia
DE   along with large-scale destruction of cancellous bones. Initial
DE   symptoms, starting in the twenties, are pain and swelling resulting
DE   from cysts in the wrists and ankles. Extremity bone fractures could
DE   occur with minor trauma. At around 30 years of age, patients gradually
DE   develop neuropsychiatric symptoms, including epileptic seizures,
DE   agnosia, apraxia, speech disorder, memory disturbance, euphoria, and
DE   loss of social inhibitions. The disorder usually leads to death in the
DE   fifth decade of life.
SY   Nasu-Hakola disease.
SY   NHD.
SY   Presenile dementia with bone cysts.
DR   MIM; 221770; phenotype.
DR   MedGen; C1857316.
DR   MeSH; D001927.
//
ID   Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2.
AC   DI-05390
AR   PLOSL2.
DE   An autosomal recessive disease characterized by presenile frontal
DE   dementia with leukoencephalopathy and basal ganglia calcification. In
DE   most cases the disorder first manifests in early adulthood as pain and
DE   swelling in ankles and feet, followed by bone fractures. Neurologic
DE   symptoms manifest in the fourth decade of life as a frontal lobe
DE   syndrome with loss of judgment, euphoria, and disinhibition.
DE   Progressive decline in other cognitive domains begins to develop at
DE   about the same time. The disorder culminates in a profound dementia
DE   and death by age 50 years.
DR   MIM; 618193; phenotype.
DR   MedGen; CN257479.
DR   MeSH; D001927.
//
ID   Polycystic liver disease 1 with or without kidney cysts.
AC   DI-02175
AR   PCLD1.
DE   An autosomal dominant hepatobiliary disease characterized by
DE   overgrowth of biliary epithelium and supportive connective tissue,
DE   resulting in multiple liver cysts. A subset of patients may develop
DE   kidney cysts that usually do not result in clinically significant
DE   renal disease.
DR   MIM; 174050; phenotype.
DR   MedGen; C0158683.
DR   MeSH; D003560.
DR   MeSH; D008107.
//
ID   Polycystic liver disease 2 with or without kidney cysts.
AC   DI-04751
AR   PCLD2.
DE   An autosomal dominant hepatobiliary disease characterized by
DE   overgrowth of biliary epithelium and supportive connective tissue,
DE   resulting in multiple liver cysts. A subset of patients may develop
DE   kidney cysts that usually do not result in clinically significant
DE   renal disease.
DR   MIM; 617004; phenotype.
DR   MedGen; C0158683.
DR   MeSH; D003560.
DR   MeSH; D008107.
//
ID   Polycystic liver disease 3 with or without kidney cysts.
AC   DI-05194
AR   PCLD3.
DE   A form of polycystic liver disease, an autosomal dominant
DE   hepatobiliary disease characterized by overgrowth of biliary
DE   epithelium and supportive connective tissue, resulting in multiple
DE   liver cysts. PCLD3 patients may also develop kidney cysts that usually
DE   do not result in clinically significant renal disease.
DR   MIM; 617874; phenotype.
DR   MedGen; CN818986.
DR   MeSH; D003560.
DR   MeSH; D008107.
//
ID   Polycystic liver disease 4 with or without kidney cysts.
AC   DI-05195
AR   PCLD4.
DE   A form of polycystic liver disease, an autosomal dominant
DE   hepatobiliary disease characterized by overgrowth of biliary
DE   epithelium and supportive connective tissue, resulting in multiple
DE   liver cysts. PCLD4 patients may also develop kidney cysts that usually
DE   do not result in clinically significant renal disease.
DR   MIM; 617875; phenotype.
DR   MedGen; CN818987.
DR   MeSH; D003560.
DR   MeSH; D008107.
//
ID   Polycythemia vera.
AC   DI-02712
AR   PV.
DE   A myeloproliferative disorder characterized by abnormal proliferation
DE   of all hematopoietic bone marrow elements, erythroid hyperplasia, an
DE   absolute increase in total blood volume, but also by myeloid
DE   leukocytosis, thrombocytosis and splenomegaly.
SY   Osler-Vaquez disease.
SY   Polycythemia rubra vera.
SY   PRV.
DR   MIM; 263300; phenotype.
DR   MedGen; C0032463.
DR   MeSH; D011087.
//
ID   Polydactyly, postaxial A1.
AC   DI-02397
AR   PAPA1.
DE   A condition characterized by the occurrence of supernumerary digits in
DE   the upper and/or lower extremities. In postaxial polydactyly type A,
DE   the extra digit is well-formed and articulates with the fifth or a
DE   sixth metacarpal/metatarsal.
SY   PAPA.
SY   Postaxial polydactyly.
SY   Postaxial polydactyly type A.
DR   MIM; 174200; phenotype.
DR   MedGen; C0220697.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial A6.
AC   DI-03746
AR   PAPA6.
DE   A condition characterized by the occurrence of supernumerary digits in
DE   the upper and/or lower extremities. In postaxial polydactyly type A,
DE   the extra digit is well-formed and articulates with the fifth or a
DE   sixth metacarpal/metatarsal.
DR   MIM; 615226; phenotype.
DR   MedGen; C3808889.
DR   MedGen; CN169515.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial B.
AC   DI-03100
AR   PAPB.
DE   A condition characterized by an extra digit in the occurrence of
DE   supernumerary digits in the upper and/or lower extremities. In
DE   postaxial polydactyly type B the extra digit is not well formed and is
DE   frequently in the form of a skin.
DR   MIM; 174200; phenotype.
DR   MedGen; C1868120.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial, A10.
AC   DI-05613
AR   PAPA10.
DE   A form of postaxial polydactyly, a condition characterized by the
DE   occurrence of supernumerary digits in the upper and/or lower
DE   extremities. In postaxial polydactyly type A, the extra digit is well-
DE   formed and articulates with the fifth or a sixth
DE   metacarpal/metatarsal. PAPA10 is an autosomal recessive condition
DE   characterized by one or more postaxial digits of the hands and/or
DE   feet. A rudimentary digit (PAP type B) may also be present.
DE   Intrafamilial variability has been observed.
DR   MIM; 618498; phenotype.
DR   MedGen; CN260589.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial, A7.
AC   DI-05052
AR   PAPA7.
DE   A form of postaxial polydactyly, a condition characterized by the
DE   occurrence of supernumerary digits in the upper and/or lower
DE   extremities. In postaxial polydactyly type A, the extra digit is well-
DE   formed and articulates with the fifth or a sixth
DE   metacarpal/metatarsal. PAPA7 is an autosomal recessive condition
DE   characterized by postaxial polydactyly restricted to the feet.
SY   Polydactyly, postaxial, type A7.
DR   MIM; 617642; phenotype.
DR   MedGen; CN417139.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial, A8.
AC   DI-05336
AR   PAPA8.
DE   A form of postaxial polydactyly, a condition characterized by the
DE   occurrence of supernumerary digits in the upper and/or lower
DE   extremities. In postaxial polydactyly type A, the extra digit is well-
DE   formed and articulates with the fifth or a sixth
DE   metacarpal/metatarsal. PAPA8 is an autosomal recessive condition
DE   characterized by the presence of postaxial extra digits (hexadactyly)
DE   on the hands and/or the feet.
SY   Polydactyly, postaxial, type A8.
DR   MIM; 618123; phenotype.
DR   MedGen; CN253836.
DR   MeSH; D017689.
//
ID   Polydactyly, postaxial, A9.
AC   DI-05433
AR   PAPA9.
DE   A form of postaxial polydactyly, a condition characterized by the
DE   occurrence of supernumerary digits in the upper and/or lower
DE   extremities. In postaxial polydactyly type A, the extra digit is well-
DE   formed and articulates with the fifth or a sixth
DE   metacarpal/metatarsal. PAPA9 is an autosomal recessive condition
DE   characterized by one or more posterior or postaxial digits.
DR   MIM; 618219; phenotype.
DR   MedGen; CN257493.
DR   MeSH; D017689.
//
ID   Polydactyly, preaxial 1.
AC   DI-05578
AR   PPD1.
DE   A form of polydactyly, a condition defined by the occurrence of
DE   supernumerary digits in the upper and/or lower extremities. Preaxial
DE   or radial polydactyly refers to the presence of extra digits on the
DE   radial side of the hand. PPD1 is an autosomal recessive form
DE   characterized by duplication of the distal phalanx of the thumb.
SY   Polydactyly, preaxial I.
DR   MIM; 174400; phenotype.
DR   MedGen; C1868116.
DR   MeSH; D017689.
//
ID   Polydactyly, preaxial 4.
AC   DI-02401
AR   PPD4.
DE   A form of polydactyly, a condition defined by the occurrence of
DE   supernumerary digits in the upper and/or lower extremities. Preaxial
DE   or radial polydactyly refers to the presence of extra digits on the
DE   radial side of the hand. PPD4 is an autosomal dominant form
DE   characterized by mild duplication of the thumb, syndactyly of various
DE   degrees affects fingers 3 and 4, duplication of part or all of the
DE   first or second toes and variable toes syndactyly. Some patients have
DE   only foot involvement.
SY   Polysyndactyly, uncomplicated.
SY   Type IV preaxial polydactyly.
DR   MIM; 174700; phenotype.
DR   MedGen; C1868111.
DR   MedGen; C1868112.
DR   MeSH; D017689.
//
ID   Polyendocrine-polyneuropathy syndrome.
AC   DI-04291
AR   PEPNS.
DE   A progressive endocrine and neurodevelopmental disorder manifesting
DE   early in childhood with growth retardation and recurrent episodes of
DE   profound asymptomatic hypoglycemia. PEPNS is characterized by central
DE   hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty,
DE   progressive non-autoimmune insulin-dependent diabetes mellitus,
DE   peripheral demyelinating sensorimotor polyneuropathy, and cerebellar
DE   and pyramidal signs.
DR   MIM; 616113; phenotype.
DR   MedGen; CN221664.
DR   MeSH; D003920.
DR   MeSH; D007006.
DR   MeSH; D011115.
KW   KW-0219:Diabetes mellitus.
KW   KW-0622:Neuropathy.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
ID   Polyglucosan body myopathy 1 with or without immunodeficiency.
AC   DI-04157
AR   PGBM1.
DE   A disease characterized by polyglucosan storage myopathy associated
DE   with early-onset progressive muscle weakness and progressive dilated
DE   cardiomyopathy, which may necessitate cardiac transplant in severe
DE   cases. Some patients present with severe immunodeficiency, invasive
DE   bacterial infections and chronic autoinflammation.
SY   PBMEI.
SY   Polyglucosan body myopathy, early-onset, with or without immunodeficiency.
DR   MIM; 615895; phenotype.
DR   MedGen; CN196923.
DR   MeSH; D009202.
DR   MeSH; D018908.
//
ID   Polyglucosan body myopathy 2.
AC   DI-04312
AR   PGBM2.
DE   A glycogen storage disease characterized by polyglucosan accumulation
DE   in muscle, and skeletal myopathy without cardiac involvement. Most
DE   patients manifest slowly progressive, hip girdle, shoulder girdle,
DE   and/or hand and leg muscle weakness. Polyglucosan contains abnormally
DE   long and poorly branched glucosyl chains and is variably resistant to
DE   digestion by alpha-amylase.
DR   MIM; 616199; phenotype.
DR   MedGen; CN225346.
DR   MeSH; D006008.
DR   MeSH; D009135.
KW   KW-0322:Glycogen storage disease.
//
ID   Polyglucosan body neuropathy, adult form.
AC   DI-00052
AR   APBN.
DE   A late-onset, slowly progressive disorder affecting the central and
DE   peripheral nervous systems. Patients typically present after age 40
DE   years with a variable combination of cognitive impairment, pyramidal
DE   tetraparesis, peripheral neuropathy, and neurogenic bladder. Other
DE   manifestations include cerebellar dysfunction and extrapyramidal
DE   signs. The pathologic hallmark of APBN is the widespread accumulation
DE   of round, intracellular polyglucosan bodies throughout the nervous
DE   system, which are confined to neuronal and astrocytic processes.
SY   Adult polyglucosan body disease.
SY   APBD.
SY   Polyglucosan body disease, adult form.
DR   MIM; 263570; phenotype.
DR   MedGen; C1849722.
DR   MeSH; D009422.
KW   KW-0622:Neuropathy.
//
ID   Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.
AC   DI-05505
AR   PMGEDSV.
DE   An autosomal recessive disorder with a highly variable phenotype and
DE   onset in early childhood. Disease features include cobblestone-like
DE   malformation of the cortex, polymicrogyria, intellectual and motor
DE   developmental delay, small joint hypermobility, vascular fragility,
DE   aneurysms, thin translucent skin and easy bruising, congenital heart
DE   defects, and foot deformities. Early death due to vascular dissection
DE   may occur.
SY   Polymicrogyria with or without vascular-type EDS.
DR   MIM; 618343; phenotype.
DR   MedGen; CN258233.
DR   MeSH; D004535.
DR   MeSH; D065706.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Polymicrogyria, bilateral temporooccipital.
AC   DI-04237
AR   BTOP.
DE   A disease characterized by temporo-occipital polymicrogyria,
DE   psychiatric manifestations, and epilepsy.
DR   MIM; 612691; phenotype.
DR   MedGen; C2675191.
DR   MeSH; D065706.
//
ID   Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.
AC   DI-02920
AR   PHARC.
DE   A slowly progressive neurologic disorder with a variable phenotype
DE   resembling Refsum disease. Clinical features include sensorineural
DE   hearing loss, visual problems related to cataracts, retinitis
DE   pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a
DE   progressive sensorimotor peripheral neuropathy. Other features include
DE   hyporeflexia, hyperreflexia, extensor plantar responses.
DR   MIM; 612674; phenotype.
DR   MedGen; C2675204.
DR   MeSH; D001259.
DR   MeSH; D002386.
DR   MeSH; D006319.
DR   MeSH; D012174.
DR   MeSH; D015417.
KW   KW-0209:Deafness.
KW   KW-0622:Neuropathy.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0898:Cataract.
//
ID   Polyposis syndrome, mixed hereditary 1.
AC   DI-03478
AR   HMPS1.
DE   A disease characterized by apparent autosomal dominant inheritance of
DE   multiple types of colorectal polyp, with colorectal carcinoma
DE   occurring in a high proportion of affected individuals. Patients can
DE   develop polyps of multiple and mixed morphologies, including serrated
DE   lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas
DE   and colorectal carcinoma in the absence of any identifiable extra-
DE   colonic features.
SY   Colorectal adenoma and carcinoma 1.
SY   CRAC1.
DR   MIM; 601228; phenotype.
DR   MedGen; C1832587.
DR   MeSH; D018256.
//
ID   Polyposis syndrome, mixed hereditary 2.
AC   DI-01724
AR   HMPS2.
DE   A disease is characterized by atypical juvenile polyps, colonic
DE   adenomas, and colorectal carcinomas.
DR   MIM; 610069; phenotype.
DR   MedGen; C1864730.
DR   MeSH; D018256.
//
ID   Pontocerebellar hypoplasia 10.
AC   DI-04087
AR   PCH10.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH10 features include cortical dysgenesis marked by a
DE   simplified gyral pattern, cortical atrophy, mild or focal cerebellar
DE   vermian volume loss, delayed myelination, progressive microcephaly,
DE   global growth and developmental delays, severe intellectual
DE   disabilities, and seizures refractory to treatment.
DR   MIM; 615803; phenotype.
DR   MedGen; CN188186.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 11.
AC   DI-05084
AR   PCH11.
DE   A non-degenerative form of pontocerebellar hypoplasia, a disorder
DE   characterized by structural defects of the pons and cerebellum,
DE   evident upon brain imaging. PCH11 features include severely delayed
DE   psychomotor development with intellectual disability and poor speech,
DE   microcephaly, dysmorphic features, and pontocerebellar hypoplasia.
DE   PCH11 inheritance is autosomal recessive.
SY   Pontocerebellar hypoplasia, type 11.
DR   MIM; 617695; phenotype.
DR   MedGen; CN502750.
DR   MeSH; D002526.
//
ID   Pontocerebellar hypoplasia 12.
AC   DI-05445
AR   PCH12.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH12 is an autosomal recessive form characterized by onset
DE   in utero and death in infancy. Brain imaging shows microcephaly,
DE   cerebellar hypoplasia, micrognathia, and multiple contractures.
DR   MIM; 618266; phenotype.
DR   MedGen; CN258054.
DR   MeSH; D002526.
//
ID   Pontocerebellar hypoplasia 13.
AC   DI-05671
AR   PCH13.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH13 is an autosomal recessive form characterized by delayed
DE   psychomotor development, absent speech, severe intellectual disability
DE   and postnatal microcephaly, with brain malformations consisting of
DE   cerebellar atrophy and hypoplastic corpus callosum. Additional
DE   features, including seizures and visual impairment, are variable.
DR   MIM; 618606; phenotype.
DR   MedGen; CN262355.
DR   MeSH; D002526.
KW   KW-0991:Intellectual disability.
//
ID   Pontocerebellar hypoplasia 14.
AC   DI-06087
AR   PCH14.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH14 is a severe autosomal recessive form characterized by
DE   progressive microcephaly, and poor or absent psychomotor development
DE   with severely impaired intellectual development apparent from birth.
DE   Other features may include hypotonia, spastic quadriplegia, and early-
DE   onset seizures. Early death may occur in some patients.
DR   MIM; 619301; phenotype.
DR   MedGen; CN296511.
DR   MeSH; D002526.
KW   KW-0991:Intellectual disability.
//
ID   Pontocerebellar hypoplasia 15.
AC   DI-06088
AR   PCH15.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH15 is a severe autosomal recessive form characterized by
DE   progressive microcephaly, and poor or absent psychomotor development
DE   with severely impaired intellectual development apparent from birth.
DE   Other features may include spastic quadriplegia, early-onset seizures,
DE   and chronic anemia and thrombocytopenia.
DR   MIM; 619302; phenotype.
DR   MedGen; CN296512.
DR   MeSH; D002526.
KW   KW-0991:Intellectual disability.
//
ID   Pontocerebellar hypoplasia 16.
AC   DI-06227
AR   PCH16.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH16 is an autosomal recessive, severe form characterized by
DE   hypotonia and severe global developmental delay apparent from early
DE   infancy. Other features may include stereotypic movements, spasticity,
DE   and progressive microcephaly.
DR   MIM; 619527; phenotype.
DR   MedGen; CN300499.
DR   MeSH; D002526.
//
ID   Pontocerebellar hypoplasia 17.
AC   DI-06442
AR   PCH17.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH17 is an autosomal recessive, severe form clinically
DE   characterized by neonatal hypotonia, feeding and respiratory
DE   difficulties, central apnea, and bradycardia. Most affected
DE   individuals die in infancy. Brain imaging shows cerebellar and
DE   brainstem hypoplasia.
SY   Pontocerebellar hypoplasia, type 17.
DR   MIM; 619909; phenotype.
DR   MedGen; CN315589.
DR   MeSH; D002526.
//
ID   Pontocerebellar hypoplasia 1A.
AC   DI-02626
AR   PCH1A.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, central and peripheral motor dysfunction from birth,
DE   gliosis and spinal cord anterior horn cells degeneration resembling
DE   infantile spinal muscular atrophy. Additional features include muscle
DE   hypotonia, congenital contractures and respiratory insufficiency that
DE   is evident at birth.
SY   Pontocerebellar hypoplasia with anterior horn cell disease.
SY   Pontocerebellar hypoplasia with infantile spinal muscular atrophy.
DR   MIM; 607596; phenotype.
DR   MedGen; C1843504.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 1B.
AC   DI-03477
AR   PCH1B.
DE   A severe autosomal recessive neurologic disorder characterized by a
DE   combination of cerebellar and spinal motor neuron degeneration
DE   beginning at birth. There is diffuse muscle weakness, progressive
DE   microcephaly, global developmental delay, and brainstem involvement.
DR   MIM; 614678; phenotype.
DR   MedGen; C3553449.
DR   MedGen; CN128720.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 1C.
AC   DI-04273
AR   PCH1C.
DE   A severe autosomal recessive neurodegenerative disease characterized
DE   by cerebellar and corpus callosum hypoplasia, abnormal myelination of
DE   the central nervous system, and spinal motor neuron disease. Affected
DE   individuals manifest failure to thrive, severe muscle weakness,
DE   spasticity and psychomotor retardation. Vision and hearing are
DE   impaired.
DR   MIM; 616081; phenotype.
DR   MedGen; CN221091.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 1D.
AC   DI-05293
AR   PCH1D.
DE   An autosomal recessive neurologic disorder with onset at birth or in
DE   infancy, and characterized by progressive axonal motor neuronopathy,
DE   severe generalized hypotonia, respiratory insufficiency, and
DE   cerebellar atrophy. Death in childhood may occur.
SY   Pontocerebellar hypoplasia, type 1D.
DR   MIM; 618065; phenotype.
DR   MedGen; CN252648.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 1E.
AC   DI-06092
AR   PCH1E.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH1E is an autosomal recessive form characterized by severe
DE   hypotonia and respiratory insufficiency apparent soon after birth.
DE   Additional features may include optic atrophy, peripheral neuropathy,
DE   dysmorphic features, congenital contracture or foot deformities, and
DE   seizures. Death occurs in the first days or weeks of life. Postmortem
DE   brain imaging show pontocerebellar atrophy and loss of anterior motor
DE   neurons in the spinal cord.
DR   MIM; 619303; phenotype.
DR   MedGen; CN296586.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 1F.
AC   DI-06093
AR   PCH1F.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH1F is an autosomal recessive form characterized by
DE   hypotonia, global developmental delay, poor overall growth, and
DE   dysmorphic facial features. Brain imaging shows pontocerebellar
DE   hypoplasia, thin corpus callosum, cerebral atrophy, and delayed
DE   myelination.
DR   MIM; 619304; phenotype.
DR   MedGen; CN296587.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 2A.
AC   DI-02176
AR   PCH2A.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, and progressive microcephaly from birth combined with
DE   extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE   frequent. There are no signs of spinal cord anterior horn cells
DE   degeneration.
SY   PCH2.
SY   Pontocerebellar hypoplasia with progressive cerebral atrophy.
SY   Volendam neurodegenerative disease.
DR   MIM; 277470; phenotype.
DR   MedGen; C1848526.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 2B.
AC   DI-02177
AR   PCH2B.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, and progressive microcephaly from birth combined with
DE   extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE   frequent. There are no signs of spinal cord anterior horn cells
DE   degeneration.
DR   MIM; 612389; phenotype.
DR   MedGen; C2676466.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 2C.
AC   DI-02178
AR   PCH2C.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, and progressive microcephaly from birth combined with
DE   extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is
DE   frequent. There are no signs of spinal cord anterior horn cells
DE   degeneration.
DR   MIM; 612390; phenotype.
DR   MedGen; C2676465.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 2D.
AC   DI-03066
AR   PCH2D.
DE   A disorder characterized by postnatal onset of progressive atrophy of
DE   the cerebrum and cerebellum, microcephaly, profound intellectual
DE   disability, spasticity, and variable seizures.
SY   PCCA.
SY   Progressive cerebellocerebral atrophy.
SY   Progressive cerebello-cerebral atrophy.
DR   MIM; 613811; phenotype.
DR   MedGen; C3151140.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Pontocerebellar hypoplasia 2E.
AC   DI-04128
AR   PCH2E.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   progressive cerebello-cerebral atrophy, profound intellectual
DE   disability, progressive microcephaly, spasticity, and early-onset
DE   epilepsy.
SY   PCCA2.
SY   Progressive cerebello-cerebral atrophy type 2.
DR   MIM; 615851; phenotype.
DR   MedGen; CN188960.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Pontocerebellar hypoplasia 2F.
AC   DI-04758
AR   PCH2F.
DE   A neurodevelopmental disorder characterized by progressive
DE   microcephaly, cognitive and motor delay, poor or absent speech,
DE   seizures, and spasticity. PCH2F inheritance is autosomal recessive.
DR   MIM; 617026; phenotype.
DR   MedGen; CN237391.
DR   MeSH; D002526.
//
ID   Pontocerebellar hypoplasia 3.
AC   DI-04470
AR   PCH3.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum. Brain MRI shows an
DE   abnormally small cerebellum and brainstem, decreased cerebral white
DE   matter, and a thin corpus callosum. PCH3 features include seizures,
DE   short stature, optic atrophy, progressive microcephaly, severe
DE   developmental delay.
SY   Cerebellar atrophy with progressive microcephaly.
SY   CLAM.
SY   PCH with optic atrophy.
DR   MIM; 608027; phenotype.
DR   MedGen; C1842687.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 4.
AC   DI-02179
AR   PCH4.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and
DE   muscular hypertonia. There is a severe inferior olivary and pontine
DE   neuronal loss and a diffuse white matter gliosis.
SY   Encephalopathy fatal infantile with olivopontocerebellar hypoplasia.
DR   MIM; 225753; phenotype.
DR   MedGen; C1856974.
DR   MeSH; D009849.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 5.
AC   DI-04348
AR   PCH5.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum. Brain MRI shows an
DE   abnormally small cerebellum and brainstem, decreased cerebral white
DE   matter, and a thin corpus callosum.
SY   Olivopontocerebellar hypoplasia, fetal-onset.
SY   Pontocerebellar hypoplasia type 5.
DR   MIM; 610204; phenotype.
DR   MedGen; C1857762.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 6.
AC   DI-02180
AR   PCH6.
DE   A disorder characterized by an abnormally small cerebellum and
DE   brainstem, infantile encephalopathy, generalized hypotonia, lethargy
DE   and poor feeding. Recurrent apnea, intractable seizures occur early in
DE   the course of this condition.
SY   Fatal infantile encephalopathy with mitochondrial respiratory chain defects.
DR   MIM; 611523; phenotype.
DR   MedGen; C1969084.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 7.
AC   DI-04978
AR   PCH7.
DE   A form of pontocerebellar hypoplasia, a group of related disorders
DE   characterized by underdevelopment of the pons and the cerebellum.
DE   Pontocerebellar hypoplasia also causes impaired growth of other parts
DE   of the brain, leading to an unusually small head size. PCH7 patients
DE   manifest delayed psychomotor development, hypotonia, breathing
DE   abnormalities, and gonadal abnormalities.
DR   MIM; 614969; phenotype.
DR   MedGen; C3554226.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 8.
AC   DI-03633
AR   PCH8.
DE   An autosomal recessive neurodevelopmental disorder characterized by
DE   severe psychomotor retardation, abnormal movements, hypotonia,
DE   spasticity, and variable visual defects. Brain MRI shows
DE   pontocerebellar hypoplasia, decreased cerebral white matter, and a
DE   thin corpus callosum.
DR   MIM; 614961; phenotype.
DR   MedGen; C3554209.
DR   MedGen; CN162972.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia 9.
AC   DI-04088
AR   PCH9.
DE   A form of pontocerebellar hypoplasia, a disorder characterized by
DE   structural defects of the pons and cerebellum, evident upon brain
DE   imaging. PCH9 features include severely delayed psychomotor
DE   development, progressive microcephaly, spasticity, seizures, and brain
DE   abnormalities, including brain atrophy, thin corpus callosum, and
DE   delayed myelination.
DR   MIM; 615809; phenotype.
DR   MedGen; CN188188.
DR   MeSH; D002526.
KW   KW-0523:Neurodegeneration.
//
ID   Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal.
AC   DI-05789
AR   PHRINL.
DE   An autosomal recessive multisystem disorder with onset in utero and
DE   death in the neonatal period. Affected infants show respiratory
DE   insufficiency and almost no spontaneous movement at birth. Additional
DE   features include corneal clouding, seizures, dysmorphic facies,
DE   contractures, and progressive pontocerebellar hypoplasia with
DE   simplified gyral pattern and white matter abnormalities. Some patients
DE   may have cardiac anomalies or cardiac hypertrophy.
SY   PHRINL syndrome.
DR   MIM; 618810; phenotype.
DR   MedGen; CN263387.
DR   MeSH; D000015.
DR   MeSH; D002526.
//
ID   Popliteal pterygium syndrome.
AC   DI-02181
AR   PPS.
DE   An autosomal dominant disorder characterized by oro-facial, skin and
DE   genital anomalies. Expressivity is variable. Clinical features include
DE   cleft lip/palate, lower lip cysts, syngnathia, congenital
DE   ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic
DE   scrotum, hypoplastic uterus, talipes equinovarus.
SY   Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies.
SY   Faciogenitopopliteal syndrome.
DR   MIM; 119500; phenotype.
DR   MedGen; C0265259.
DR   MeSH; D011625.
//
ID   Poretti-Boltshauser syndrome.
AC   DI-04197
AR   PTBHS.
DE   An autosomal recessive disorder characterized by cerebellar dysplasia,
DE   cerebellar vermis atrophy, cerebellar cysts in most patients, high
DE   myopia, variable retinal dystrophy, and eye movement abnormalities
DE   including strabismus, ocular apraxia, nystagmus. Affected individuals
DE   have ataxia, delayed motor development, language impairment, and
DE   intellectual disability with variable severity.
DR   MIM; 615960; phenotype.
DR   MedGen; CN218429.
DR   MeSH; D002526.
DR   MeSH; D015835.
DR   MeSH; D019954.
//
ID   Porokeratosis 1, multiple types.
AC   DI-04570
AR   POROK1.
DE   A form of porokeratosis, a disorder of faulty keratinization
DE   characterized by one or more atrophic patches surrounded by a
DE   distinctive hyperkeratotic ridgelike border called the cornoid
DE   lamella. The keratotic lesions can progress to overt cutaneous
DE   neoplasms, typically squamous cell carcinomas. Multiple clinical
DE   variants of porokeratosis are recognized, including porokeratosis of
DE   Mibelli, linear porokeratosis, disseminated superficial actinic
DE   porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE   Different clinical presentations can be observed among members of the
DE   same family. Individuals expressing more than one variant have also
DE   been reported.
SY   Porokeratosis 1, Mibelli type.
SY   Porokeratosis of Mibelli.
DR   MIM; 175800; phenotype.
DR   MedGen; C0949506.
DR   MeSH; D017499.
//
ID   Porokeratosis 3, multiple types.
AC   DI-01490
AR   POROK3.
DE   A form of porokeratosis, a disorder of faulty keratinization
DE   characterized by one or more atrophic patches surrounded by a
DE   distinctive hyperkeratotic ridgelike border called the cornoid
DE   lamella. The keratotic lesions can progress to overt cutaneous
DE   neoplasms, typically squamous cell carcinomas. Multiple clinical
DE   variants of porokeratosis are recognized, including porokeratosis of
DE   Mibelli, linear porokeratosis, disseminated superficial actinic
DE   porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE   Different clinical presentations can be observed among members of the
DE   same family. Individuals expressing more than one variant have also
DE   been reported.
SY   Disseminated superficial actinic porokeratosis 1.
SY   DSAP1.
SY   Porokeratosis, disseminated superficial actinic, 1.
SY   Porokeratosis 3, disseminated superficial actinic type.
DR   MIM; 175900; phenotype.
DR   MedGen; C1867981.
DR   MeSH; D017499.
//
ID   Porokeratosis 7, multiple types.
AC   DI-04571
AR   POROK7.
DE   A form of porokeratosis, a disorder of faulty keratinization
DE   characterized by one or more atrophic patches surrounded by a
DE   distinctive hyperkeratotic ridgelike border called the cornoid
DE   lamella. The keratotic lesions can progress to overt cutaneous
DE   neoplasms, typically squamous cell carcinomas. Multiple clinical
DE   variants of porokeratosis are recognized, including porokeratosis of
DE   Mibelli, linear porokeratosis, disseminated superficial actinic
DE   porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE   Different clinical presentations can be observed among members of the
DE   same family. Individuals expressing more than one variant have also
DE   been reported.
SY   Porokeratosis 7, disseminated superficial actinic type.
DR   MIM; 614714; phenotype.
DR   MedGen; C0265970.
DR   MedGen; C3553549.
DR   MeSH; D017499.
//
ID   Porokeratosis 8, disseminated superficial actinic type.
AC   DI-04250
AR   POROK8.
DE   A form of porokeratosis, a disorder of faulty keratinization
DE   characterized by one or more atrophic patches surrounded by a
DE   distinctive hyperkeratotic ridgelike border called the cornoid
DE   lamella. The keratotic lesions can progress to overt cutaneous
DE   neoplasms, typically squamous cell carcinomas. Multiple clinical
DE   variants of porokeratosis are recognized, including porokeratosis of
DE   Mibelli, linear porokeratosis, disseminated superficial actinic
DE   porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE   Disseminated superficial actinic porokeratosis (DSAP) is the most
DE   common subtype. It is characterized by multiple small, annular,
DE   anhidrotic, keratotic lesions that are located predominantly on sun-
DE   exposed areas of the skin, such as the face, neck, and distal limbs.
DE   The lesions typically begin to develop in adolescence and reach near-
DE   complete penetrance by the third or fourth decade of life.
DR   MIM; 616063; phenotype.
DR   MedGen; CN220507.
DR   MeSH; D017499.
//
ID   Porokeratosis 9, multiple types.
AC   DI-04569
AR   POROK9.
DE   A form of porokeratosis, a disorder of faulty keratinization
DE   characterized by one or more atrophic patches surrounded by a
DE   distinctive hyperkeratotic ridgelike border called the cornoid
DE   lamella. The keratotic lesions can progress to overt cutaneous
DE   neoplasms, typically squamous cell carcinomas. Multiple clinical
DE   variants of porokeratosis are recognized, including porokeratosis of
DE   Mibelli, linear porokeratosis, disseminated superficial actinic
DE   porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
DE   Different clinical presentations can be observed among members of the
DE   same family. Individuals expressing more than one variant have also
DE   been reported.
DR   MIM; 616631; phenotype.
DR   MedGen; CN233216.
DR   MeSH; D017499.
//
ID   Portal hypertension, non-cirrhotic, 1.
AC   DI-04803
AR   NCPH1.
DE   An autosomal recessive disorder characterized by portal hypertension
DE   associated with hepatosplenomegaly, in absence of cirrhosis,
DE   extrahepatic diseases, and splanchnic venous thrombosis. Portal
DE   hypertension is defined by a portal venous system pressure that is at
DE   least 5 mm Hg higher than the pressure in the inferior vena cava. High
DE   pressure in the portal venous system leads to shunting of blood
DE   through vessels that are poorly suited to carrying large blood
DE   volumes, resulting in collateral circulation and splenomegaly. NCPH1
DE   patients show normal liver function.
SY   Portal hypertension, noncirrhotic.
DR   MIM; 617068; phenotype.
DR   MedGen; CN237800.
DR   MeSH; D006975.
//
ID   Portal hypertension, non-cirrhotic, 2.
AC   DI-06180
AR   NCPH2.
DE   An autosomal recessive disorder characterized by portal hypertension
DE   associated with hepatosplenomegaly, in absence of cirrhosis. Portal
DE   hypertension is defined by a portal venous system pressure that is at
DE   least 5 mm Hg higher than the pressure in the inferior vena cava. High
DE   pressure in the portal venous system leads to shunting of blood
DE   through vessels that are poorly suited to carrying large blood
DE   volumes, resulting in collateral circulation and splenomegaly. NCPH2
DE   patients have jaundice, hyperbilirubinemia, pancytopenia, including
DE   neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly,
DE   and esophageal varices. Some patients may have recurrent infections or
DE   features suggestive of an immunodeficiency.
DR   MIM; 619463; phenotype.
DR   MedGen; CN300302.
DR   MeSH; D006975.
//
ID   Postaxial acrofacial dysostosis.
AC   DI-02571
AR   POADS.
DE   POADS is characterized by severe micrognathia, cleft lip and/or
DE   palate, hypoplasia or aplasia of the posterior elements of the limbs,
DE   coloboma of the eyelids and supernumerary nipples. POADS is a very
DE   rare disorder: only 2 multiplex families, each consisting of 2
DE   affected siblings born to unaffected, nonconsanguineous parents, have
DE   been described among a total of around 30 reported cases.
SY   Miller syndrome.
DR   MIM; 263750; phenotype.
DR   MedGen; C0265257.
//
ID   Posterior column ataxia with retinitis pigmentosa.
AC   DI-03015
AR   PCARP.
DE   A neurodegenerative syndrome beginning in infancy with areflexia and
DE   retinitis pigmentosa. Nyctalopia (night blindness) and peripheral
DE   visual field loss are usually evident during late childhood or teenage
DE   years, with subsequent progressive constriction of the visual fields
DE   and loss of central retinal function over time. A sensory ataxia
DE   caused by degeneration of the posterior columns of the spinal cord
DE   results in a loss of proprioceptive sensation that is clinically
DE   evident in the second decade of life and gradually progresses.
DE   Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and
DE   a sensory peripheral neuropathy are variable features of the disease.
DE   Affected individuals have no clinical or radiological evidence of
DE   cerebral or cerebellar involvement.
SY   AXPC1.
DR   MIM; 609033; phenotype.
DR   MedGen; C1836916.
DR   MeSH; D001259.
DR   MeSH; D012174.
KW   KW-0523:Neurodegeneration.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Potocki-Shaffer syndrome.
AC   DI-02006
AR   POSHS.
DE   A syndrome characterized by foramina parietalia permagna, multiple
DE   exostoses, and craniofacial dysostosis, and intellectual disability in
DE   some cases.
SY   Chromosome 11p11.2 deletion syndrome.
DR   MIM; 601224; phenotype.
DR   MedGen; C1832588.
DR   MeSH; D002872.
//
ID   Pre-eclampsia/eclampsia 4.
AC   DI-02187
AR   PEE4.
DE   A hypertensive disorder of pregnancy characterized by new hypertension
DE   (blood pressure 140/90 or greater) presenting after 20 weeks'
DE   gestation with clinically relevant proteinuria. It impacts 2
DE   individuals, the mother and her child, both of whom can be severely
DE   affected. Preeclampsia is one of the causes of maternal mortality and
DE   morbidity worldwide.
SY   Gestational proteinuric hypertension.
DR   MIM; 609404; phenotype.
DR   MedGen; C1836255.
DR   MeSH; D004461.
DR   MeSH; D011225.
//
ID   Pre-eclampsia/eclampsia 5.
AC   DI-03420
AR   PEE5.
DE   A hypertensive disorder of pregnancy characterized by new hypertension
DE   (blood pressure 140/90 or greater) presenting after 20 weeks'
DE   gestation with clinically relevant proteinuria. It impacts 2
DE   individuals, the mother and her child, both of whom can be severely
DE   affected. Preeclampsia is one of the causes of maternal mortality and
DE   morbidity worldwide.
SY   Gestational proteinuric hypertension.
DR   MIM; 614595; phenotype.
DR   MedGen; C3281288.
DR   MeSH; D004461.
DR   MeSH; D011225.
//
ID   Preaxial polydactyly 2.
AC   DI-03095
AR   PPD2.
DE   Polydactyly consists of duplication of the distal phalanx. The thumb
DE   in PPD2 is usually opposable and possesses a normal metacarpal.
DR   MIM; 174500; phenotype.
DR   MedGen; C1868114.
//
ID   Precocious puberty, central 1.
AC   DI-01332
AR   CPPB1.
DE   A condition defined as the development of secondary sexual
DE   characteristics in boys and girls at a chronological age that is 2.5
DE   standard deviations below the mean age at onset of puberty in the
DE   population. Central precocious puberty results from premature
DE   activation of the hypothalamic-pituitary-gonadal axis.
DR   MIM; 176400; phenotype.
DR   MedGen; C0342543.
DR   MeSH; D011629.
//
ID   Precocious puberty, central 2.
AC   DI-03824
AR   CPPB2.
DE   A condition defined as the development of secondary sexual
DE   characteristics in boys and girls at a chronological age that is 2.5
DE   standard deviations below the mean age at onset of puberty in the
DE   population. Central precocious puberty results from premature
DE   activation of the hypothalamic-pituitary-gonadal axis.
DR   MIM; 615346; phenotype.
DR   MedGen; C3809199.
DR   MedGen; CN178220.
DR   MeSH; D011629.
//
ID   Pregnancy loss, recurrent, 1.
AC   DI-03350
AR   RPRGL1.
DE   A common complication of pregnancy, resulting in spontaneous abortion
DE   before the fetus has reached viability. The term includes all
DE   miscarriages from the time of conception until 24 weeks of gestation.
DE   Recurrent pregnancy loss is defined as 3 or more consecutive
DE   spontaneous abortions.
SY   Recurrent embryonic loss.
SY   Recurrent fetal loss.
SY   Recurrent miscarriage.
SY   Recurrent stillbirth.
SY   RPL.
SY   RPRGL.
SY   Spontaneous recurrent abortion.
DR   MIM; 614389; phenotype.
DR   MedGen; C3280670.
DR   MeSH; D000026.
//
ID   Pregnancy loss, recurrent, 2.
AC   DI-03351
AR   RPRGL2.
DE   A common complication of pregnancy, resulting in spontaneous abortion
DE   before the fetus has reached viability. The term includes all
DE   miscarriages from the time of conception until 24 weeks of gestation.
DE   Recurrent pregnancy loss is defined as 3 or more consecutive
DE   spontaneous abortions.
DR   MIM; 614390; phenotype.
DR   MedGen; C3280672.
DR   MeSH; D000026.
//
ID   Pregnancy loss, recurrent, 3.
AC   DI-03352
AR   RPRGL3.
DE   A common complication of pregnancy, resulting in spontaneous abortion
DE   before the fetus has reached viability. The term includes all
DE   miscarriages from the time of conception until 24 weeks of gestation.
DE   Recurrent pregnancy loss is defined as 3 or more consecutive
DE   spontaneous abortions.
DR   MIM; 614391; phenotype.
DR   MedGen; C3280674.
DR   MeSH; D000026.
//
ID   Pregnancy loss, recurrent, 4.
AC   DI-04655
AR   RPRGL4.
DE   A common complication of pregnancy, resulting in spontaneous abortion
DE   before the fetus has reached viability. The term includes all
DE   miscarriages from the time of conception until 24 weeks of gestation.
DE   Recurrent pregnancy loss is defined as 3 or more consecutive
DE   spontaneous abortions.
DR   MIM; 270960; phenotype.
DR   MedGen; C3279437.
DR   MeSH; D000026.
//
ID   Prekallikrein deficiency.
AC   DI-02188
AR   PKKD.
DE   An autosomal recessive condition characterized by a clotting defect
DE   due to prolongation of activated partial thromboplastin time. Affected
DE   individuals are clinically asymptomatic.
SY   Fletcher factor deficiency.
SY   PKK deficiency.
DR   MIM; 612423; phenotype.
DR   MedGen; C0272339.
DR   MeSH; D001778.
//
ID   Premature aging syndrome, Penttinen type.
AC   DI-04566
AR   PENTT.
DE   A syndrome characterized by a prematurely aged appearance with
DE   lipoatrophy, epidermal and dermal atrophy along with hypertrophic
DE   lesions that resemble scars, thin hair, proptosis, underdeveloped
DE   cheekbones, and marked acro-osteolysis.
SY   Penttinen-Aula syndrome.
SY   Penttinen syndrome.
DR   MIM; 601812; phenotype.
DR   MedGen; C1866182.
DR   MeSH; D011371.
DR   MeSH; D030981.
//
ID   Premature chromatid separation trait.
AC   DI-02189
AR   PCS.
DE   Consists of separate and splayed chromatids with discernible
DE   centromeres and involves all or most chromosomes of a metaphase. It is
DE   found in up to 2% of metaphases in cultured lymphocytes from
DE   approximately 40% of normal individuals. When PCS is present in 5% or
DE   more of cells, it is known as the heterozygous PCS trait and has no
DE   obvious phenotypic effect, although some have reported decreased
DE   fertility. Inheritance is autosomal dominant.
DR   MIM; 176430; phenotype.
DR   MedGen; C1864389.
//
ID   Premature ovarian failure 1.
AC   DI-02518
AR   POF1.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
SY   Hypergonadotropic ovarian failure X-linked.
SY   Ovarian failure premature.
SY   POF.
SY   POFX.
SY   POI.
SY   Premature ovarian failure X-linked.
SY   Primary ovarian insufficiency.
DR   MIM; 311360; phenotype.
DR   MedGen; C0085215.
DR   MedGen; C3494522.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 10.
AC   DI-04371
AR   POF10.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 612885; phenotype.
DR   MedGen; C2752067.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 11.
AC   DI-04722
AR   POF11.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 616946; phenotype.
DR   MedGen; CN236436.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 12.
AC   DI-04723
AR   POF12.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 616947; phenotype.
DR   MedGen; CN236701.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 13.
AC   DI-04986
AR   POF13.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 617442; phenotype.
DR   MedGen; CN242237.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 14.
AC   DI-05263
AR   POF14.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 618014; phenotype.
DR   MedGen; CN248520.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 15.
AC   DI-05319
AR   POF15.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 618096; phenotype.
DR   MedGen; CN253428.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 16.
AC   DI-05724
AR   POF16.
DE   An autosomal dominant form of premature ovarian failure, an ovarian
DE   disorder defined as the cessation of ovarian function under the age of
DE   40 years. It is characterized by oligomenorrhea or amenorrhea, in the
DE   presence of elevated levels of serum gonadotropins and low estradiol.
DR   MIM; 618723; phenotype.
DR   MedGen; CN263090.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 17.
AC   DI-05974
AR   POF17.
DE   A form of premature ovarian failure, an ovarian disorder defined as
DE   the cessation of ovarian function under the age of 40 years. It is
DE   characterized by oligomenorrhea or amenorrhea, in the presence of
DE   elevated levels of serum gonadotropins and low estradiol. POF17
DE   transmission pattern is consistent with autosomal recessive
DE   inheritance.
DR   MIM; 619146; phenotype.
DR   MedGen; CN293617.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 18.
AC   DI-06020
AR   POF18.
DE   A form of premature ovarian failure, an ovarian disorder defined as
DE   the cessation of ovarian function under the age of 40 years. It is
DE   characterized by oligomenorrhea or amenorrhea, in the presence of
DE   elevated levels of serum gonadotropins and low estradiol. POF18 is an
DE   autosomal recessive form characterized by irregular menstrual cycles
DE   and cessation of menstruation in the third decade of life. The uterus
DE   is small, ovaries may be small or rudimentary, and do not show
DE   follicular activity.
DR   MIM; 619203; phenotype.
DR   MedGen; CN295302.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 19.
AC   DI-06064
AR   POF19.
DE   A form of premature ovarian failure, an ovarian disorder defined as
DE   the cessation of ovarian function under the age of 40 years. It is
DE   characterized by oligomenorrhea or amenorrhea, in the presence of
DE   elevated levels of serum gonadotropins and low estradiol. POF19 is an
DE   autosomal recessive form characterized by irregular menstrual cycles
DE   and cessation of menstruation in the third decade of life.
DR   MIM; 619245; phenotype.
DR   MedGen; CN295867.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 20.
AC   DI-06466
AR   POF20.
DE   A form of premature ovarian failure, an ovarian disorder defined as
DE   the cessation of ovarian function under the age of 40 years. It is
DE   characterized by oligomenorrhea or amenorrhea, in the presence of
DE   elevated levels of serum gonadotropins and low estradiol. POF20
DE   inheritance is autosomal recessive.
DR   MIM; 619938; phenotype.
DR   MedGen; CN315602.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 21.
AC   DI-06641
AR   POF21.
DE   A form of premature ovarian failure, an ovarian disorder defined as
DE   the cessation of ovarian function under the age of 40 years. It is
DE   characterized by oligomenorrhea or amenorrhea, in the presence of
DE   elevated levels of serum gonadotropins and low estradiol. POF21
DE   inheritance is autosomal dominant.
DR   MIM; 620311; phenotype.
DR   MedGen; CN323742.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 2A.
AC   DI-02191
AR   POF2A.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 300511; phenotype.
DR   MedGen; C1845293.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 2B.
AC   DI-02192
AR   POF2B.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 300604; phenotype.
DR   MedGen; C1845105.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 3.
AC   DI-02193
AR   POF3.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 608996; phenotype.
DR   MedGen; C1837008.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 4.
AC   DI-02194
AR   POF4.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 300510; phenotype.
DR   MedGen; C1845295.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 5.
AC   DI-02195
AR   POF5.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 611548; phenotype.
DR   MedGen; C1969060.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 6.
AC   DI-02196
AR   POF6.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 612310; phenotype.
DR   MedGen; C2676742.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 7.
AC   DI-02517
AR   POF7.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 612964; phenotype.
DR   MedGen; C2751825.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 8.
AC   DI-04093
AR   POF8.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 615723; phenotype.
DR   MedGen; C3810367.
DR   MedGen; CN185545.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Premature ovarian failure 9.
AC   DI-04070
AR   POF9.
DE   An ovarian disorder defined as the cessation of ovarian function under
DE   the age of 40 years. It is characterized by oligomenorrhea or
DE   amenorrhea, in the presence of elevated levels of serum gonadotropins
DE   and low estradiol.
DR   MIM; 615724; phenotype.
DR   MedGen; C3810376.
DR   MedGen; CN185546.
DR   MeSH; D016649.
KW   KW-1066:Premature ovarian failure.
//
ID   Primary aldosteronism, seizures, and neurologic abnormalities.
AC   DI-03908
AR   PASNA.
DE   A disorder characterized by hypertension, hypokalemia, and high
DE   aldosterone levels with low plasma renin activity and an elevated
DE   aldosterone/renin ratio. Other features include generalized seizures,
DE   cerebral palsy, spasticity, intellectual disability, and developmental
DE   delay.
DR   MIM; 615474; phenotype.
DR   MedGen; C3809609.
DR   MedGen; CN180191.
DR   MeSH; D006929.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
//
ID   Primary erythermalgia.
AC   DI-02201
AR   PERYTHM.
DE   Autosomal dominant disease characterized by recurrent episodes of
DE   severe pain associated with redness and warmth in the feet or hands.
DR   MIM; 133020; phenotype.
DR   MedGen; C0014805.
DR   MedGen; C3276706.
//
ID   Primary failure of tooth eruption.
AC   DI-02202
AR   PFE.
DE   Rare condition that has high penetrance and variable expressivity and
DE   in which tooth retention occurs without evidence of any obvious
DE   mechanical interference. Instead, malfunction of the eruptive
DE   mechanism itself appears to cause nonankylosed permanent teeth to fail
DE   to erupt, although the eruption pathway has been cleared by bone
DE   resorption.
SY   Dental non-eruption.
SY   Familial posterior openbite malocclusion.
SY   Non-syndromic primary failure of eruption.
SY   Primary retention of teeth.
SY   Unerupted second primary molar.
DR   MIM; 125350; phenotype.
DR   MedGen; C1852222.
DR   MeSH; D014076.
//
ID   Primary pigmented nodular adrenocortical disease 1.
AC   DI-00940
AR   PPNAD1.
DE   A rare bilateral adrenal defect causing ACTH-independent Cushing
DE   syndrome. Macroscopic appearance of the adrenals is characteristic
DE   with small pigmented micronodules observed in the cortex. Clinical
DE   manifestations of Cushing syndrome include facial and truncal obesity,
DE   abdominal striae, muscular weakness, osteoporosis, arterial
DE   hypertension, diabetes. PPNAD1 is most often diagnosed in patients
DE   with Carney complex, a multiple neoplasia syndrome. However it can
DE   also be observed in patients without other manifestations.
SY   Adrenal Cushing syndrome due to PPNAD1.
SY   Primary pigmented micronodular adrenocortical disease 1.
SY   Primary pigmented nodular adrenocortical disease-1.
DR   MIM; 610489; phenotype.
DR   MedGen; C1864846.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   Primary pigmented nodular adrenocortical disease 2.
AC   DI-00941
AR   PPNAD2.
DE   A rare bilateral adrenal defect causing ACTH-independent Cushing
DE   syndrome. Macroscopic appearance of the adrenals is characteristic
DE   with small pigmented micronodules observed in the cortex. Adrenal
DE   glands show overall normal size and weight, and multiple small yellow-
DE   to-dark brown nodules surrounded by a cortex with a uniform
DE   appearance. Microscopically, there are moderate diffuse cortical
DE   hyperplasia with mostly nonpigmented nodules, multiple capsular
DE   deficits and massive circumscribed and infiltrating extra-adrenal
DE   cortical excrescences with micronodules. Clinical manifestations of
DE   Cushing syndrome include facial and truncal obesity, abdominal striae,
DE   muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY   Adrenal Cushing syndrome due to PPNAD2.
SY   Primary pigmented micronodular adrenocortical disease 2.
SY   Primary pigmented nodular adrenocortical disease-2.
DR   MIM; 610475; phenotype.
DR   MedGen; C1864851.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   Primary pigmented nodular adrenocortical disease 3.
AC   DI-03239
AR   PPNAD3.
DE   A rare bilateral adrenal defect causing ACTH-independent Cushing
DE   syndrome. Macroscopic appearance of the adrenals is characteristic
DE   with small pigmented micronodules observed in the cortex. Adrenal
DE   glands show overall normal size and weight, and multiple small yellow-
DE   to-dark brown nodules surrounded by a cortex with a uniform
DE   appearance. Microscopically, there are moderate diffuse cortical
DE   hyperplasia with mostly nonpigmented nodules, multiple capsular
DE   deficits and massive circumscribed and infiltrating extra-adrenal
DE   cortical excrescences with micronodules. Clinical manifestations of
DE   Cushing syndrome include facial and truncal obesity, abdominal striae,
DE   muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY   Adrenal Cushing syndrome due to PPNAD3.
DR   MIM; 614190; phenotype.
DR   MedGen; C3280094.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   Primary pigmented nodular adrenocortical disease 4.
AC   DI-04115
AR   PPNAD4.
DE   A rare bilateral adrenal defect causing ACTH-independent Cushing
DE   syndrome. Macroscopic appearance of the adrenals is characteristic
DE   with small pigmented micronodules observed in the cortex. Adrenal
DE   glands show overall normal size and weight, and multiple small yellow-
DE   to-dark brown nodules surrounded by a cortex with a uniform
DE   appearance. Microscopically, there are moderate diffuse cortical
DE   hyperplasia with mostly nonpigmented nodules, multiple capsular
DE   deficits and massive circumscribed and infiltrating extra-adrenal
DE   cortical excrescences with micronodules. Clinical manifestations of
DE   Cushing syndrome include facial and truncal obesity, abdominal striae,
DE   muscular weakness, osteoporosis, arterial hypertension, diabetes.
SY   Adrenal Cushing syndrome due to PPNAD4.
SY   Chromosome 19p13 duplication syndrome.
DR   MIM; 615830; phenotype.
DR   MedGen; CN188261.
DR   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   Primary spontaneous pneumothorax.
AC   DI-02208
AR   PSP.
DE   Condition in which air is present in the pleural space in the absence
DE   of a precipitating event, such as trauma or lung disease. This results
DE   in secondary collapse of the lung, either partially or completely, and
DE   some degree of hypoxia. PSP is relatively common, with an incidence
DE   between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-
DE   dependent, increased risk among smokers. Most cases are sporadic,
DE   typically occurring in tall, thin men aged 10-30 years and generally
DE   while at rest. Familial PSP is rarer and usually is inherited as an
DE   autosomal dominant condition with reduced penetrance, although X-
DE   linked recessive and autosomal recessive inheritance have also been
DE   suggested.
DR   MIM; 173600; phenotype.
DR   MedGen; C1868193.
//
ID   Primordial dwarfism-immunodeficiency-lipodystrophy syndrome.
AC   DI-06484
AR   PDIL.
DE   An autosomal recessive syndrome characterized by growth failure with
DE   in utero growth retardation and severe postnatal growth restriction,
DE   severe microcephaly, absence of subcutaneous fat, and significant
DE   haematological and immune dysfunction. Patients have hypo- or
DE   agammaglobulinemia, lymphopenia, anemia, and thrombocytopenia. Most
DE   affected individuals die in early childhood from either respiratory or
DE   gastrointestinal infections.
DR   MIM; 620005; phenotype.
DR   MedGen; CN315942.
DR   MeSH; D004392.
DR   MeSH; D007153.
DR   MeSH; D008060.
KW   KW-0242:Dwarfism.
//
ID   Primrose syndrome.
AC   DI-04154
AR   PRIMS.
DE   A disease characterized by macrocephaly, intellectual disability,
DE   disturbed behavior, dysmorphic facial features, ectopic
DE   calcifications, large calcified ear auricles, and progressive muscle
DE   wasting.
SY   Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes.
DR   MIM; 259050; phenotype.
DR   MedGen; C0796121.
DR   MeSH; D002114.
DR   MeSH; D008607.
DR   MeSH; D009133.
KW   KW-0991:Intellectual disability.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1.
AC   DI-00943
AR   PEOA1.
DE   A disorder characterized by progressive weakness of ocular muscles and
DE   levator muscle of the upper eyelid. In a minority of cases, it is
DE   associated with skeletal myopathy, which predominantly involves axial
DE   or proximal muscles and which causes abnormal fatigability and even
DE   permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE   muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE   associated with other symptoms, leading to a multisystemic pattern of
DE   this disease. Additional symptoms are variable, and may include
DE   cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE   depression, hypogonadism, and parkinsonism.
SY   Chronic progressive external ophthalmoplegia.
SY   CPEO.
SY   Graefe disease.
SY   Mitochondrial ocular myopathy.
SY   Ocular myopathy of von Graefe-Fuchs.
SY   Progressive external ophthalmoplegia autosomal dominant.
DR   MIM; 157640; phenotype.
DR   MedGen; C1834846.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2.
AC   DI-00944
AR   PEOA2.
DE   A disorder characterized by progressive weakness of ocular muscles and
DE   levator muscle of the upper eyelid. In a minority of cases, it is
DE   associated with skeletal myopathy, which predominantly involves axial
DE   or proximal muscles and which causes abnormal fatigability and even
DE   permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE   muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE   associated with other symptoms, leading to a multisystemic pattern of
DE   this disease. Additional symptoms are variable, and may include
DE   cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE   depression, hypogonadism, and parkinsonism.
SY   Chronic progressive external ophthalmoplegia.
SY   CPEO.
SY   Graefe disease.
SY   Mitochondrial ocular myopathy.
SY   Ocular myopathy of von Graefe-Fuchs.
SY   Progressive external ophthalmoplegia autosomal dominant 2.
DR   MIM; 609283; phenotype.
DR   MedGen; C1836460.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3.
AC   DI-00945
AR   PEOA3.
DE   A disorder characterized by progressive weakness of ocular muscles and
DE   levator muscle of the upper eyelid. In a minority of cases, it is
DE   associated with skeletal myopathy, which predominantly involves axial
DE   or proximal muscles and which causes abnormal fatigability and even
DE   permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE   muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE   associated with other symptoms, leading to a multisystemic pattern of
DE   this disease. Additional symptoms are variable, and may include
DE   cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE   depression, hypogonadism, and parkinsonism.
SY   Chronic progressive external ophthalmoplegia.
SY   CPEO.
SY   Graefe disease.
SY   Mitochondrial ocular myopathy.
SY   Ocular myopathy of von Graefe-Fuchs.
SY   Progressive external ophthalmoplegia autosomal dominant 3.
DR   MIM; 609286; phenotype.
DR   MedGen; C1836439.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.
AC   DI-00946
AR   PEOA4.
DE   A disorder characterized by progressive weakness of ocular muscles and
DE   levator muscle of the upper eyelid. In a minority of cases, it is
DE   associated with skeletal myopathy, which predominantly involves axial
DE   or proximal muscles and which causes abnormal fatigability and even
DE   permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE   muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE   associated with other symptoms, leading to a multisystemic pattern of
DE   this disease. Additional symptoms are variable, and may include
DE   cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE   depression, hypogonadism, and parkinsonism.
SY   Chronic progressive external ophthalmoplegia.
SY   CPEO.
SY   Graefe disease.
SY   Mitochondrial ocular myopathy.
SY   Ocular myopathy of von Graefe-Fuchs.
SY   Progressive external ophthalmoplegia autosomal dominant 4.
DR   MIM; 610131; phenotype.
DR   MedGen; C1864668.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5.
AC   DI-02544
AR   PEOA5.
DE   A disorder characterized by progressive weakness of ocular muscles and
DE   levator muscle of the upper eyelid. In a minority of cases, it is
DE   associated with skeletal myopathy, which predominantly involves axial
DE   or proximal muscles and which causes abnormal fatigability and even
DE   permanent muscle weakness. Ragged-red fibers and atrophy are found on
DE   muscle biopsy. A large proportion of chronic ophthalmoplegias are
DE   associated with other symptoms, leading to a multisystemic pattern of
DE   this disease. Additional symptoms are variable, and may include
DE   cataracts, hearing loss, sensory axonal neuropathy, ataxia,
DE   depression, hypogonadism, and parkinsonism.
SY   Progressive external ophthalmoplegia autosomal dominant 5.
DR   MIM; 613077; phenotype.
DR   MedGen; C2751319.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6.
AC   DI-03758
AR   PEOA6.
DE   A disorder characterized by muscle weakness, mainly affecting the
DE   lower limbs, external ophthalmoplegia, exercise intolerance, and
DE   mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in
DE   childhood or adulthood and show slow progression.
SY   Progressive external ophthalmoplegia autosomal dominant 6.
DR   MIM; 615156; phenotype.
DR   MedGen; C3554599.
DR   MedGen; CN169523.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.
AC   DI-04488
AR   PEOB2.
DE   A form of progressive external ophthalmoplegia, a mitochondrial
DE   myopathy characterized by progressive paralysis of the levator
DE   palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients
DE   manifest exercise intolerance, muscle weakness, and signs and symptoms
DE   of spinocerebellar ataxia, such as impaired gait and dysarthria. Some
DE   patients may have respiratory insufficiency.
DR   MIM; 616479; phenotype.
DR   MedGen; CN231730.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.
AC   DI-04801
AR   PEOB3.
DE   A form of progressive external ophthalmoplegia, a mitochondrial
DE   myopathy characterized by progressive paralysis of the levator
DE   palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients
DE   manifest adult-onset progressive external ophthalmoplegia and
DE   progressive proximal muscle weakness associated with muscle atrophy.
SY   Progressive external ophthalmoplegia, autosomal recessive 3.
DR   MIM; 617069; phenotype.
DR   MedGen; CN237801.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.
AC   DI-04802
AR   PEOB4.
DE   A form of progressive external ophthalmoplegia, a mitochondrial
DE   myopathy characterized by progressive paralysis of the levator
DE   palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients
DE   manifest clinically variable features including mitochondrial myopathy
DE   with or without progressive external ophthalmoplegia, recurrent
DE   rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild
DE   cognitive impairment.
SY   Progressive external ophthalmoplegia, autosomal recessive 4.
DR   MIM; 617070; phenotype.
DR   MedGen; CN237802.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
AC   DI-05301
AR   PEOB5.
DE   A form of progressive external ophthalmoplegia, a mitochondrial
DE   myopathy characterized by progressive paralysis of the levator
DE   palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features
DE   include slowly progressive ptosis, intermittent double vision, cardiac
DE   arrhythmias, exercise intolerance, proximal limb and neck muscle
DE   weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show
DE   numerous COX-deficient ragged-red fibers, increased mtDNA deletions,
DE   and extensive variable mtDNA rearrangements.
SY   Progressive external ophthalmoplegia, autosomal recessive 5.
DR   MIM; 618098; phenotype.
DR   MedGen; CN253818.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1.
AC   DI-00947
AR   PEOB1.
DE   A severe form of progressive external ophthalmoplegia, a disorder
DE   characterized by progressive weakness of ocular muscles and levator
DE   muscle of the upper eyelid. It is clinically more heterogeneous than
DE   the autosomal dominant forms.
SY   Chronic progressive external ophthalmoplegia.
SY   CPEO.
SY   Graefe disease.
SY   Mitochondrial ocular myopathy.
SY   Ocular myopathy of von Graefe-Fuchs.
SY   Progressive external ophthalmoplegia autosomal recessive.
DR   MIM; 258450; phenotype.
DR   MedGen; C1850303.
DR   MeSH; D017246.
KW   KW-0935:Progressive external ophthalmoplegia.
//
ID   Progressive familial heart block 1A.
AC   DI-00948
AR   PFHB1A.
DE   A cardiac bundle branch disorder characterized by progressive
DE   alteration of cardiac conduction through the His-Purkinje system, with
DE   a pattern of a right bundle-branch block and/or left anterior
DE   hemiblock occurring individually or together. It leads to complete
DE   atrio-ventricular block causing syncope and sudden death.
SY   Bundle branch block.
SY   Cardiac conduction defect.
SY   HBBD.
SY   Hereditary bundle branch system defect.
SY   Lenegre-Lev disease.
SY   PCCD.
SY   PFHBIA.
SY   Progressive cardiac conduction defect.
SY   Progressive familial heart block type I.
SY   Progressive familial heart block type IA.
DR   MIM; 113900; phenotype.
DR   MedGen; C1861983.
DR   MedGen; C1861984.
DR   MedGen; C1879286.
DR   MedGen; C2931045.
DR   MeSH; D002037.
//
ID   Progressive familial heart block 1B.
AC   DI-02825
AR   PFHB1B.
DE   A cardiac bundle branch disorder characterized by progressive
DE   alteration of cardiac conduction through the His-Purkinje system, with
DE   a pattern of a right bundle-branch block and/or left anterior
DE   hemiblock occurring individually or together. It leads to complete
DE   atrio-ventricular block causing syncope and sudden death.
SY   Cardiac conduction block.
SY   PFHBIB.
SY   Progressive familial heart block type IB.
SY   Right-bundle branch block.
DR   MIM; 604559; phenotype.
DR   MedGen; C1970298.
DR   MeSH; D002037.
//
ID   Progressive osseous heteroplasia.
AC   DI-02212
AR   POH.
DE   Rare autosomal dominant disorder characterized by extensive dermal
DE   ossification during childhood, followed by disabling and widespread
DE   heterotopic ossification of skeletal muscle and deep connective
DE   tissue.
DR   MIM; 166350; phenotype.
DR   MedGen; C0334041.
DR   MedGen; CN034473.
//
ID   Progressive pseudorheumatoid dysplasia.
AC   DI-02213
AR   PPRD.
DE   An autosomal recessive disorder characterized by stiffness and
DE   swelling of joints, motor weakness and joint contractures. Signs and
DE   symptoms of the disease develop typically between three and eight
DE   years of age. This progressive disease is a primary disorder of
DE   articular cartilage with continued cartilage loss and destructive bone
DE   changes with aging.
SY   Arthropathy, progressive pseudorheumatoid, of childhood.
SY   PPAC.
SY   PPD.
SY   Progressive pseudorheumatoid arthropathy of childhood.
SY   SEDT-PA.
SY   Spondyloepiphyseal dysplasia tarda with progressive arthropathy;.
DR   MIM; 208230; phenotype.
DR   MedGen; C0432215.
DR   MeSH; D007592.
//
ID   Progressive supranuclear palsy 1.
AC   DI-02215
AR   PSNP1.
DE   Characterized by akinetic-rigid syndrome, supranuclear gaze palsy,
DE   pyramidal tract dysfunction, pseudobulbar signs and cognitive
DE   capacities deterioration. Neurofibrillary tangles and gliosis but no
DE   amyloid plaques are found in diseased brains. Most cases appear to be
DE   sporadic, with a significant association with a common haplotype
DE   including the MAPT gene and the flanking regions. Familial cases show
DE   an autosomal dominant pattern of transmission with incomplete
DE   penetrance; genetic analysis of a few cases showed the occurrence of
DE   tau mutations, including a deletion of Asn-613.
SY   PSP.
SY   Steele-Richardson-Olszewski syndrome.
DR   MIM; 601104; phenotype.
DR   MedGen; C0038868.
//
ID   Progressive symmetric erythrokeratodermia.
AC   DI-02216
AR   PSEK.
DE   Erythrokeratodermas are a group of disorders characterized by
DE   widespread erythematous plaques, either stationary or migratory,
DE   associated with features that include palmoplantar keratoderma. PSEK
DE   is characterized by erythematous and hyperkeratotic plaques.
DR   MIM; 133200; phenotype.
//
ID   Prolidase deficiency.
AC   DI-02218
AR   PD.
DE   A multisystem disorder associated with massive iminodipeptiduria and
DE   lack of or reduced prolidase activity in erythrocytes, leukocytes, or
DE   cultured fibroblasts. Clinical features include skin ulcers,
DE   developmental delay, recurrent infections, and a characteristic
DE   facies.
DR   MIM; 170100; phenotype.
DR   MedGen; C0268532.
DR   MeSH; D056732.
//
ID   Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.
AC   DI-02824
AR   PVHH.
DE   A rare prenatally lethal disorder characterized by hydranencephaly, a
DE   distinctive glomerular vasculopathy in the central nervous system and
DE   retina, and diffuse ischemic lesions of the brain stem, basal ganglia,
DE   and spinal cord with calcifications. Hydranencephaly is a condition
DE   where the greater portions of the cerebral hemispheres and corpus
DE   striatum are replaced by cerebrospinal fluid and glial tissue.
SY   Cerebral proliferative glomeruloid vasculopathy.
SY   Encephaloclastic proliferative vasculopathy.
SY   EPV.
SY   Fowler syndrome.
SY   Hydranencephaly Fowler type.
SY   Hydrocephaly/hydranencephaly due to cerebral vasculopathy.
SY   PGV.
DR   MIM; 225790; phenotype.
DR   MedGen; C1856972.
DR   MeSH; D006832.
//
ID   Prolonged electroretinal response suppression 1.
AC   DI-02219
AR   PERRS1.
DE   A form of bradyopsia, an ocular disorder characterized by prolonged
DE   electroretinal response suppression leading to difficulties adjusting
DE   to changes in luminance, normal to subnormal acuity and photophobia.
DE   PERRS1 is an autosomal recessive form with onset in childhood.
SY   Bradyopsia.
SY   PERRS.
SY   Prolonged electroretinal response suppression.
DR   MIM; 608415; phenotype.
DR   MedGen; C1842073.
DR   MeSH; D015785.
//
ID   Prolonged electroretinal response suppression 2.
AC   DI-06665
AR   PERRS2.
DE   A form of bradyopsia, an ocular disorder characterized by prolonged
DE   electroretinal response suppression leading to difficulties adjusting
DE   to changes in luminance, normal to subnormal acuity and photophobia.
DE   PERRS2 is an autosomal recessive form with onset in childhood.
SY   Bradyopsia 2.
DR   MIM; 620344; phenotype.
DR   MedGen; CN327021.
DR   MeSH; D015785.
//
ID   Properdin deficiency.
AC   DI-02220
AR   PFD.
DE   Results in higher susceptibility to bacterial infections; especially
DE   to meningococcal infections. Three phenotypes have been reported:
DE   complete deficiency (type I), incomplete deficiency (type II), and
DE   dysfunction of properdin (type III).
DR   MIM; 312060; phenotype.
DR   MedGen; C1839454.
DR   MedGen; C1839455.
DR   MedGen; C1839456.
//
ID   Propionic acidemia type I.
AC   DI-02221
AR   PA-1.
DE   Life-threatening disease characterized by episodic vomiting, lethargy
DE   and ketosis, neutropenia, periodic thrombocytopenia,
DE   hypogammaglobulinemia, developmental retardation, and intolerance to
DE   protein.
DR   MIM; 606054; phenotype.
DR   MedGen; C0268579.
DR   MedGen; C0311297.
//
ID   Propionic acidemia type II.
AC   DI-02222
AR   PA-2.
DE   Life-threatening disease characterized by episodic vomiting, lethargy
DE   and ketosis, neutropenia, periodic thrombocytopenia,
DE   hypogammaglobulinemia, developmental retardation, and intolerance to
DE   protein.
DR   MIM; 606054; phenotype.
DR   MedGen; C0268579.
DR   MedGen; C0311298.
//
ID   Proprotein convertase 1 deficiency.
AC   DI-02223
AR   PC1 deficiency.
DE   Characterized by obesity, hypogonadism, hypoadrenalism, reactive
DE   hypoglycemia as well as marked small-intestinal absorptive dysfunction
DE   It is due to impaired processing of prohormones.
DR   MIM; 600955; phenotype.
DR   MedGen; C1833053.
//
ID   Prostate cancer.
AC   DI-02663
AR   PC.
DE   A malignancy originating in tissues of the prostate. Most prostate
DE   cancers are adenocarcinomas that develop in the acini of the prostatic
DE   ducts. Other rare histopathologic types of prostate cancer that occur
DE   in approximately 5% of patients include small cell carcinoma, mucinous
DE   carcinoma, prostatic ductal carcinoma, transitional cell carcinoma,
DE   squamous cell carcinoma, basal cell carcinoma, adenoid cystic
DE   carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine
DE   carcinoma.
SY   PRCA.
DR   MIM; 176807; phenotype.
DR   MedGen; C0376358.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 1.
AC   DI-01736
AR   HPC1.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
SY   Familial prostate cancer 1.
SY   PRCA1.
DR   MIM; 601518; phenotype.
DR   MedGen; C2931456.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 11.
AC   DI-02662
AR   HPC11.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
SY   Familial prostate cancer 11.
DR   MIM; 611955; phenotype.
DR   MedGen; C2677773.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 12.
AC   DI-02661
AR   HPC12.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
SY   Familial prostate cancer 12.
DR   MIM; 611868; phenotype.
DR   MedGen; C2678479.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 13.
AC   DI-02660
AR   HPC13.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
SY   Familial prostate cancer 13.
DR   MIM; 611928; phenotype.
DR   MedGen; C2677821.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 2.
AC   DI-03498
AR   HPC2.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
SY   Familial prostate cancer 2.
DR   MIM; 614731; phenotype.
DR   MedGen; C3539120.
DR   MedGen; CN130472.
DR   MeSH; D011471.
//
ID   Prostate cancer, hereditary, 9.
AC   DI-06719
AR   HPC9.
DE   A condition associated with familial predisposition to cancer of the
DE   prostate. Most prostate cancers are adenocarcinomas that develop in
DE   the acini of the prostatic ducts. Other rare histopathologic types of
DE   prostate cancer that occur in approximately 5% of patients include
DE   small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma,
DE   transitional cell carcinoma, squamous cell carcinoma, basal cell
DE   carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell
DE   carcinoma and neuroendocrine carcinoma.
DR   MIM; 610997; phenotype.
DR   MedGen; C1970250.
DR   MeSH; D011471.
//
ID   Proteasome-associated autoinflammatory syndrome 1.
AC   DI-03009
AR   PRAAS1.
DE   An autosomal recessive autoinflammatory disorder characterized by
DE   early childhood onset of recurrent fever, joint stiffness and severe
DE   contractures of the hands and feet, and erythematous skin lesions with
DE   subsequent development of lipodystrophy and laboratory evidence of
DE   immune dysregulation. Accompanying features may include muscle
DE   weakness and atrophy, hepatosplenomegaly, and microcytic anemia.
SY   Autoinflammation, lipodystrophy, and dermatosis syndrome.
SY   CANDLE.
SY   Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome.
SY   JMP syndrome.
SY   Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy.
SY   Nakajo-Nishimura syndrome.
SY   Nakajo syndrome.
SY   NKJO.
SY   NNS.
SY   Nodular erythema with digital changes.
SY   Secondary hypertrophic osteoperiostosis with pernio.
DR   MIM; 256040; phenotype.
DR   MedGen; C1850568.
DR   MedGen; C3278560.
DR   MeSH; D007249.
DR   MeSH; D008060.
//
ID   Proteasome-associated autoinflammatory syndrome 2.
AC   DI-05287
AR   PRAAS2.
DE   An autosomal dominant autoinflammatory disorder characterized by onset
DE   in early infancy and severe inflammatory neutrophilic dermatitis,
DE   autoimmunity, and variable immunodeficiency.
DR   MIM; 618048; phenotype.
DR   MedGen; CN252342.
DR   MeSH; D056660.
//
ID   Proteasome-associated autoinflammatory syndrome 3.
AC   DI-05286
AR   PRAAS3.
DE   An autoinflammatory disorder characterized by onset in early infancy
DE   and recurrent fever, nodular dermatitis, myositis, panniculitis-
DE   induced lipodystrophy, lymphadenopathy, and immune dysregulation.
DE   Variable accompanying features may include joint contractures,
DE   hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections,
DE   autoantibodies, and hypergammaglobulinemia. Some patients may have
DE   intracranial calcifications. PRAAS3 inheritance is autosomal recessive
DE   or digenic.
SY   Proteasome-associated autoinflammatory syndrome 3, digenic.
DR   MIM; 617591; phenotype.
DR   MedGen; CN252341.
DR   MeSH; D056660.
//
ID   Proteasome-associated autoinflammatory syndrome 4.
AC   DI-06047
AR   PRAAS4.
DE   An autosomal recessive, autoinflammatory disorder characterized by
DE   panniculitis and erythematous skin lesions apparent in early infancy.
DE   Additional features include hepatosplenomegaly, lymphadenopathy,
DE   autoimmune hemolytic anemia, fever, generalized lipodystrophy,
DE   myositis, joint contractures, and mild motor and speech delay.
DR   MIM; 619183; phenotype.
DR   MedGen; CN295286.
DR   MeSH; D056660.
//
ID   Proteasome-associated autoinflammatory syndrome 5.
AC   DI-06029
AR   PRAAS5.
DE   An autosomal recessive, autoinflammatory disorder characterized by
DE   recurrent, polymorphic disseminated cutaneous rash with annular
DE   lesions, non-specific lymphocytic infiltration in the skin, fever,
DE   failure to thrive, and persistent hepatosplenomegaly. Disease onset is
DE   in early infancy.
DR   MIM; 619175; phenotype.
DR   MedGen; CN295285.
DR   MeSH; D056660.
//
ID   Proteinuria, chronic benign.
AC   DI-05842
AR   PROCHOB.
DE   An autosomal recessive condition characterized by isolated, non-
DE   progressive proteinuria in absence of renal disease and hypertension.
DE   Onset of proteinuria is in the first decade of life.
DR   MIM; 618884; phenotype.
DR   MedGen; CN280936.
DR   MeSH; D011507.
//
ID   Proteus syndrome.
AC   DI-03216
AR   PROTEUSS.
DE   A highly variable, severe disorder of asymmetric and disproportionate
DE   overgrowth of body parts, connective tissue nevi, epidermal nevi,
DE   dysregulated adipose tissue, and vascular malformations. Many features
DE   of Proteus syndrome overlap with other overgrowth syndromes.
SY   Partial gigantism of hands and feet nevi hemihypertrophy and macrocephaly.
DR   MIM; 176920; phenotype.
DR   MedGen; C0085261.
DR   MedGen; C1867610.
DR   MeSH; D016715.
//
ID   Protoporphyria, erythropoietic, 1.
AC   DI-00484
AR   EPP1.
DE   An autosomal recessive form of porphyria with onset usually before age
DE   10 years. Porphyrias are inherited defects in the biosynthesis of
DE   heme, resulting in the accumulation and increased excretion of
DE   porphyrins or porphyrin precursors. They are classified as
DE   erythropoietic or hepatic, depending on whether the enzyme deficiency
DE   occurs in red blood cells or in the liver. Erythropoietic
DE   protoporphyria is marked by excessive protoporphyrin in erythrocytes,
DE   plasma, liver and feces, and by widely varying photosensitive skin
DE   changes ranging from a burning or pruritic sensation to erythema,
DE   edema and wheals.
SY   EPP.
SY   Erythrohepatic protoporphyria.
SY   Erythropoietic protoporphyria.
SY   Ferrochelatase deficiency.
SY   Heme synthetase deficiency.
DR   MIM; 177000; phenotype.
DR   MedGen; C0162568.
DR   MedGen; C0349426.
DR   MeSH; D046351.
//
ID   Protoporphyria, erythropoietic, 2.
AC   DI-05274
AR   EPP2.
DE   An autosomal dominant form of porphyria with onset in infancy.
DE   Porphyrias are inherited defects in the biosynthesis of heme,
DE   resulting in the accumulation and increased excretion of porphyrins or
DE   porphyrin precursors. They are classified as erythropoietic or
DE   hepatic, depending on whether the enzyme deficiency occurs in red
DE   blood cells or in the liver. Erythropoietic protoporphyria is marked
DE   by excessive protoporphyrin in erythrocytes, plasma, liver and feces,
DE   and by widely varying photosensitive skin changes ranging from a
DE   burning or pruritic sensation to erythema, edema and wheals.
DR   MIM; 618015; phenotype.
DR   MedGen; CN248523.
DR   MeSH; D046351.
//
ID   Prune belly syndrome.
AC   DI-03312
AR   PBS.
DE   A syndrome characterized by thin abdominal musculature with overlying
DE   lax skin, cryptorchism, megacystis with disorganized detrusor muscle,
DE   and urinary tract abnormalities.
SY   Abdominal muscle deficiency syndrome.
SY   Absence of abdominal muscles with urinary tract abnormality and cryptorchidism.
SY   Eagle-Barrett syndrome.
SY   EGBRS.
DR   MIM; 100100; phenotype.
DR   MedGen; C0033770.
DR   MeSH; D011535.
//
ID   Pseudo-TORCH syndrome 1.
AC   DI-02925
AR   PTORCH1.
DE   An autosomal recessive neurologic disorder with characteristic
DE   clinical and neuroradiologic features that mimic intrauterine TORCH
DE   infection in the absence of evidence of infection. Affected
DE   individuals have congenital microcephaly, intracranial calcifications,
DE   and severe developmental delay.
SY   Band-like calcification with simplified gyration and polymicrogyria.
SY   Baraitser Brett Piesowicz syndrome.
SY   BLCPMG.
SY   Pseudo-TORCH syndrome.
DR   MIM; 251290; phenotype.
DR   MedGen; C3489725.
DR   MeSH; D009422.
//
ID   Pseudo-TORCH syndrome 2.
AC   DI-04973
AR   PTORCH2.
DE   An autosomal recessive multisystem disorder characterized by antenatal
DE   onset of intracranial hemorrhage, calcification, brain malformations,
DE   liver dysfunction, and often thrombocytopenia. Affected individuals
DE   tend to have respiratory insufficiency and seizures, and die in
DE   infancy. The phenotype resembles the sequelae of intrauterine
DE   infection, but there is no evidence of an infectious agent.
DR   MIM; 617397; phenotype.
DR   MedGen; CN241835.
DR   MeSH; D009422.
//
ID   Pseudo-TORCH syndrome 3.
AC   DI-05844
AR   PTORCH3.
DE   An autosomal recessive disorder characterized by developmental delay
DE   with acute episodes of fever and multisystemic organ involvement,
DE   including coagulopathy, elevated liver enzymes, and proteinuria, often
DE   associated with thrombotic microangiopathy. Brain imaging shows
DE   progressive intracranial calcifications, white matter abnormalities,
DE   and sometimes cerebral or cerebellar atrophy. Disease onset is in the
DE   neonatal period, and death in early childhood is common.
DR   MIM; 618886; phenotype.
DR   MedGen; CN280969.
DR   MeSH; D009422.
//
ID   Pseudo-von Willebrand disease.
AC   DI-02415
AR   VWDP.
DE   A bleeding disorder characterized by abnormally enhanced binding of
DE   von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor
DE   complex. Hemostatic function is impaired due to the removal of VWF
DE   multimers from the circulation.
SY   BDPLT3.
SY   Bleeding disorder platelet-type 3.
SY   Pseudo-vWD.
SY   von Willebrand disease platelet-type.
DR   MIM; 177820; phenotype.
DR   MedGen; C1280798.
DR   MeSH; D014842.
//
ID   Pseudoachondroplasia.
AC   DI-02227
AR   PSACH.
DE   A skeletal dysplasia usually manifesting in the second year of life
DE   and characterized by moderate to severe disproportionate short
DE   stature, deformity of the lower limbs, brachydactyly, ligamentous
DE   laxity, and degenerative joint disease.
SY   Pseudoachondroplastic dysplasia.
SY   Spondyloepiphyseal dysplasia pseudoachondroplastic.
DR   MIM; 177170; phenotype.
DR   MedGen; C0410538.
DR   MeSH; D010009.
//
ID   Pseudofolliculitis barbae.
AC   DI-05647
AR   PFB.
DE   A common hair disorder characterized by a pustular foreign body
DE   inflammatory reaction that is induced by ingrown hairs of the facial
DE   and submental (barbea) regions after regular shaving. It primarily
DE   affects curly haired males. The etiology of PFB is multifactorial.
SY   Ingrown hairs.
SY   Pili incarnati.
DR   MIM; 612318; phenotype.
DR   MedGen; C0549150.
DR   MeSH; D006201.
//
ID   Pseudohyperkalemia, familial, 2, due to red cell leak.
AC   DI-04131
AR   PSHK2.
DE   A dominantly inherited condition characterized by increased serum
DE   potassium levels, measured in whole-blood specimens stored at or below
DE   room temperature. This condition is not accompanied by clinical
DE   symptoms or biological signs except for borderline abnormalities of
DE   red cell shape.
SY   Cryohydrocytosis, mild.
SY   Pseudohyperkalemia Cardiff.
SY   Pseudohyperkalemia Chiswick.
SY   Pseudohyperkalemia East London.
SY   Pseudohyperkalemia Falkirk.
SY   Pseudohyperkalemia Lille.
DR   MIM; 609153; phenotype.
DR   MedGen; C1836705.
DR   MeSH; D006947.
//
ID   Pseudohypoaldosteronism 1, autosomal dominant.
AC   DI-01224
AR   PHA1A.
DE   A salt wasting disease resulting from target organ unresponsiveness to
DE   mineralocorticoids. PHA1A is a mild form characterized by target organ
DE   defects confined to kidney. Patients may present with neonatal renal
DE   salt wasting with hyperkalaemic acidosis despite high aldosterone
DE   levels. These patients improve with age and usually become
DE   asymptomatic without treatment.
SY   PHA type I, autosomal dominant.
SY   Pseudohypoaldosteronism type I, autosomal dominant.
DR   MIM; 177735; phenotype.
DR   MedGen; C1449842.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 1B1, autosomal recessive.
AC   DI-01255
AR   PHA1B1.
DE   A form of pseudohypoaldosteronism type 1, a rare salt wasting disease
DE   resulting from target organ unresponsiveness to mineralocorticoids.
DE   The disorder affects multiple organs, and is characterized by an often
DE   fulminant presentation in the neonatal period with dehydration,
DE   hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and
DE   weight loss.
SY   Multisystem pseudohypoaldosteronism.
SY   PHA type I, autosomal recessive.
SY   Pseudohypoaldosteronism type I, autosomal recessive.
DR   MIM; 264350; phenotype.
DR   MedGen; C1449843.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 1B2, autosomal recessive.
AC   DI-06537
AR   PHA1B2.
DE   A form of pseudohypoaldosteronism type 1, a rare salt wasting disease
DE   resulting from target organ unresponsiveness to mineralocorticoids.
DE   The disorder affects multiple organs, and is characterized by an often
DE   fulminant presentation in the neonatal period with dehydration,
DE   hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and
DE   weight loss.
SY   Pseudohypoaldosteronism, type IB2, autosomal recessive.
DR   MIM; 620125; phenotype.
DR   MedGen; CN322488.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 1B3, autosomal recessive.
AC   DI-06538
AR   PHA1B3.
DE   A form of pseudohypoaldosteronism type 1, a rare salt wasting disease
DE   resulting from target organ unresponsiveness to mineralocorticoids.
DE   The disorder affects multiple organs, and is characterized by an often
DE   fulminant presentation in the neonatal period with dehydration,
DE   hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and
DE   weight loss.
SY   Pseudohypoaldosteronism, type IB3, autosomal recessive.
DR   MIM; 620126; phenotype.
DR   MedGen; CN322489.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 2B.
AC   DI-03368
AR   PHA2B.
DE   An autosomal dominant disorder characterized by hypertension,
DE   hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis,
DE   and correction of physiologic abnormalities by thiazide diuretics.
DR   MIM; 614491; phenotype.
DR   MedGen; C1840390.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 2C.
AC   DI-02228
AR   PHA2C.
DE   An autosomal dominant disorder characterized by severe hypertension,
DE   hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis
DE   in some cases, and correction of physiologic abnormalities by thiazide
DE   diuretics.
DR   MIM; 614492; phenotype.
DR   MedGen; C1840391.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 2D.
AC   DI-03366
AR   PHA2D.
DE   A disorder characterized by severe hypertension, hyperkalemia,
DE   hyperchloremia, hyperchloremic metabolic acidosis, and correction of
DE   physiologic abnormalities by thiazide diuretics. PHA2D inheritance is
DE   autosomal dominant or recessive.
DR   MIM; 614495; phenotype.
DR   MedGen; C3469605.
DR   MeSH; D011546.
//
ID   Pseudohypoaldosteronism 2E.
AC   DI-03367
AR   PHA2E.
DE   An autosomal dominant disorder characterized by severe hypertension,
DE   hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and
DE   correction of physiologic abnormalities by thiazide diuretics.
DR   MIM; 614496; phenotype.
DR   MedGen; C3469606.
DR   MeSH; D011546.
//
ID   Pseudohypoparathyroidism 1A.
AC   DI-02229
AR   PHP1A.
DE   A disorder characterized by end-organ resistance to parathyroid
DE   hormone, hypocalcemia and hyperphosphatemia. It is commonly associated
DE   with Albright hereditary osteodystrophy whose features are short
DE   stature, obesity, round facies, short metacarpals and ectopic
DE   calcification.
SY   Albright hereditary osteodystrophy with multiple hormone resistance.
DR   MIM; 103580; phenotype.
DR   MedGen; C0033806.
DR   MedGen; C3494506.
DR   MeSH; D011547.
//
ID   Pseudohypoparathyroidism 1B.
AC   DI-02817
AR   PHP1B.
DE   A disorder characterized by end-organ resistance to parathyroid
DE   hormone, hypocalcemia and hyperphosphatemia. Patients affected with
DE   PHP1B lack developmental defects characteristic of Albright hereditary
DE   osteodystrophy, and typically show no other endocrine abnormalities
DE   besides resistance to PTH.
DR   MIM; 603233; phenotype.
DR   MedGen; C1864100.
DR   MeSH; D011547.
//
ID   Pseudohypoparathyroidism 1C.
AC   DI-02818
AR   PHP1C.
DE   A disorder characterized by end-organ resistance to parathyroid
DE   hormone, hypocalcemia and hyperphosphatemia. It is commonly associated
DE   with Albright hereditary osteodystrophy whose features are short
DE   stature, obesity, round facies, short metacarpals and ectopic
DE   calcification.
DR   MIM; 612462; phenotype.
DR   MedGen; C2675910.
DR   MedGen; C2932716.
DR   MeSH; D011547.
//
ID   Pseudovaginal perineoscrotal hypospadias.
AC   DI-02230
AR   PPSH.
DE   A form of male pseudohermaphroditism in which 46,XY males show
DE   ambiguous genitalia at birth, including perineal hypospadias and a
DE   blind perineal pouch, and develop masculinization at puberty. The name
DE   of the disorder stems from the finding of a blind-ending perineal
DE   opening resembling a vagina and a severely hypospadiac penis with the
DE   urethra opening onto the perineum.
SY   5-ARD deficiency.
SY   Familial incomplete male pseudohermaphroditism type 2.
SY   Male pseudohermaphroditism due to 5-alpha-reductase deficiency.
DR   MIM; 264600; phenotype.
DR   MedGen; C0268297.
DR   MeSH; D058490.
KW   KW-0657:Pseudohermaphroditism.
//
ID   Pseudoxanthoma elasticum.
AC   DI-00959
AR   PXE.
DE   A multisystem disorder characterized by accumulation of mineralized
DE   and fragmented elastic fibers in the skin, vascular walls, and Burch
DE   membrane in the eye. Clinically, patients exhibit characteristic
DE   lesions of the posterior segment of the eye including peau d'orange,
DE   angioid streaks, and choroidal neovascularizations, of the skin
DE   including soft, ivory colored papules in a reticular pattern that
DE   predominantly affect the neck and large flexor surfaces, and of the
DE   cardiovascular system with peripheral and coronary arterial occlusive
DE   disease as well as gastrointestinal bleedings.
SY   Gronblad-Strandberg syndrome.
SY   Gronblad-Strandberg-Touraine syndrome.
DR   MIM; 264800; phenotype.
DR   MedGen; C0033847.
DR   MedGen; C0376359.
DR   MedGen; C3279392.
DR   MedGen; C3279393.
DR   MeSH; D011561.
//
ID   Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.
AC   DI-02234
AR   PXEL-MCFD.
DE   Characterized by hyperlaxity of the skin involving the entire body.
DE   Important phenotypic differences with classical PXE include much more
DE   severe skin laxity with spreading toward the trunk and limbs with
DE   thick, leathery skin folds rather than confinement to flexural areas,
DE   and no decrease in visual acuity. Moreover, detailed electron
DE   microscopic analyses revealed that alterations of elastic fibers as
DE   well as their mineralization are slightly different from those in
DE   classic PXE.
SY   PXE-like disorder with multiple coagulation factor deficiency.
DR   MIM; 610842; phenotype.
DR   MedGen; C1835813.
//
ID   Psoriasis 1.
AC   DI-02231
AR   PSORS1.
DE   A common, chronic inflammatory disease of the skin with multifactorial
DE   etiology. It is characterized by red, scaly plaques usually found on
DE   the scalp, elbows and knees. These lesions are caused by abnormal
DE   keratinocyte proliferation and infiltration of inflammatory cells into
DE   the dermis and epidermis.
SY   Psoriasis.
SY   Psoriasis vulgaris.
SY   PV.
DR   MIM; 177900; phenotype.
DR   MedGen; C1867449.
DR   MeSH; D011565.
//
ID   Psoriasis 11.
AC   DI-02669
AR   PSORS11.
DE   A common, chronic inflammatory disease of the skin with multifactorial
DE   etiology. It is characterized by red, scaly plaques usually found on
DE   the scalp, elbows and knees. These lesions are caused by abnormal
DE   keratinocyte proliferation and infiltration of inflammatory cells into
DE   the dermis and epidermis.
SY   Psoriasis.
SY   Psoriasis vulgaris.
SY   PV.
DR   MIM; 612599; phenotype.
DR   MedGen; C2675475.
DR   MeSH; D011565.
//
ID   Psoriasis 13.
AC   DI-03151
AR   PSORS13.
DE   A common, chronic inflammatory disease of the skin with multifactorial
DE   etiology. It is characterized by red, scaly plaques usually found on
DE   the scalp, elbows and knees. These lesions are caused by abnormal
DE   keratinocyte proliferation and infiltration of inflammatory cells into
DE   the dermis and epidermis.
SY   Psoriasis.
SY   Psoriasis vulgaris.
SY   PV.
DR   MIM; 614070; phenotype.
DR   MedGen; C3279754.
DR   MeSH; D011565.
//
ID   Psoriasis 14, pustular.
AC   DI-03262
AR   PSORS14.
DE   A life-threatening disease defined by repeated flares of sudden onset
DE   consisting of diffuse erythematous skin eruption characterized by
DE   rapid coverage with pustules, high-grade fever, asthenia, marked
DE   leukocytosis, and elevated serum levels of C-reactive protein.
SY   Acrodermatitis continua of Hallopeau.
SY   DITRA.
SY   Generalized pustular psoriasis.
SY   GPP.
SY   Interleukin 36 receptor antagonist deficiency.
SY   Palmoplantar pustulosis.
SY   PSORP.
DR   MIM; 614204; phenotype.
DR   MedGen; C0343055.
DR   MedGen; CN078797.
DR   MeSH; D011565.
//
ID   Psoriasis 15, pustular.
AC   DI-04277
AR   PSORS15.
DE   A form of pustular psoriasis, a life-threatening disease defined by
DE   repeated flares of sudden onset consisting of diffuse erythematous
DE   skin eruption characterized by rapid coverage with pustules, high-
DE   grade fever, asthenia, marked leukocytosis, and elevated serum levels
DE   of C-reactive protein.
DR   MIM; 616106; phenotype.
DR   MedGen; CN225908.
DR   MeSH; D011565.
//
ID   Psoriasis 2.
AC   DI-03462
AR   PSORS2.
DE   A common, chronic inflammatory disease of the skin with multifactorial
DE   etiology. It is characterized by red, scaly plaques usually found on
DE   the scalp, elbows and knees. These lesions are caused by abnormal
DE   keratinocyte proliferation and infiltration of inflammatory cells into
DE   the dermis and epidermis.
SY   Psoriasis.
SY   Psoriasis vulgaris.
SY   PV.
DR   MIM; 602723; phenotype.
DR   MedGen; C1864497.
DR   MeSH; D011565.
//
ID   Psoriasis 7.
AC   DI-02668
AR   PSORS7.
DE   A common, chronic inflammatory disease of the skin with multifactorial
DE   etiology. It is characterized by red, scaly plaques usually found on
DE   the scalp, elbows and knees. These lesions are caused by abnormal
DE   keratinocyte proliferation and infiltration of inflammatory cells into
DE   the dermis and epidermis.
SY   Psoriasis.
SY   Psoriasis vulgaris.
SY   PV.
DR   MIM; 605606; phenotype.
DR   MedGen; C1854124.
DR   MeSH; D011565.
//
ID   Psoriatic arthritis.
AC   DI-02697
AR   PSORAS.
DE   An inflammatory, seronegative arthritis associated with psoriasis. It
DE   is a heterogeneous disorder ranging from a mild, non-destructive
DE   disease to a severe, progressive, erosive arthropathy. Five types of
DE   psoriatic arthritis have been defined: asymmetrical oligoarthritis
DE   characterized by primary involvement of the small joints of the
DE   fingers or toes; asymmetrical arthritis which involves the joints of
DE   the extremities; symmetrical polyarthritis characterized by a
DE   rheumatoid like pattern that can involve hands, wrists, ankles, and
DE   feet; arthritis mutilans, which is a rare but deforming and
DE   destructive condition; arthritis of the sacroiliac joints and spine
DE   (psoriatic spondylitis).
SY   Arthritic psoriasis.
SY   Psoriasis arthropathica.
SY   Psoriatic arthropathy.
DR   MIM; 607507; phenotype.
DR   MedGen; C1835223.
DR   MedGen; C1843772.
DR   MeSH; D015535.
//
ID   Pulmonary alveolar microlithiasis.
AC   DI-02232
AR   PULAM.
DE   Rare disease characterized by the deposition of calcium phosphate
DE   microliths throughout the lungs. Most patients are asymptomatic for
DE   several years or even for decades and generally, the diagnosis is
DE   incidental to clinical investigations unrelated to the disease. Cases
DE   with early-onset or rapid progression are rare. A 'sandstorm-
DE   appearing' chest roentgenogram is a typical diagnostic finding. The
DE   onset of this potentially lethal disease varies from the neonatal
DE   period to old age and the disease follows a long-term, progressive
DE   course, resulting in a slow deterioration of lung functions. Pulmonary
DE   alveolar microlithiasis is a recessive monogenic disease with full
DE   penetrance.
DR   MIM; 265100; phenotype.
DR   MedGen; C0155912.
//
ID   Pulmonary disease, chronic obstructive.
AC   DI-01352
AR   COPD.
DE   A common, complex disorder defined by irreversible airflow obstruction
DE   due to chronic bronchitis, emphysema, and/or small airways disease.
DE   Airflow obstruction is typically determined by reductions in
DE   quantitative spirometric indices, including forced expiratory volume
DE   at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity
DE   (FVC).
SY   Chronic obstructive lung disease.
SY   Severe early-onset chronic obstructive pulmonary disease.
DR   MIM; 606963; phenotype.
DR   MedGen; C1847014.
DR   MedGen; C1969833.
DR   MedGen; C2751329.
DR   MeSH; D029424.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1.
AC   DI-03500
AR   PFBMFT1.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other
DE   manifestations include aplastic anemia due to bone marrow failure,
DE   hepatic fibrosis, and increased cancer risk, particularly
DE   myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE   onset, and severity are determined by telomere length.
DR   MIM; 614742; phenotype.
DR   MedGen; C3553617.
DR   MedGen; CN130951.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3.
AC   DI-04431
AR   PFBMFT3.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other
DE   manifestations include aplastic anemia due to bone marrow failure,
DE   hepatic fibrosis, and increased cancer risk, particularly
DE   myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE   onset, and severity are determined by telomere length.
DR   MIM; 616373; phenotype.
DR   MedGen; CN230446.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4.
AC   DI-04430
AR   PFBMFT4.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other
DE   manifestations include aplastic anemia due to bone marrow failure,
DE   hepatic fibrosis, and increased cancer risk, particularly
DE   myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE   onset, and severity are determined by telomere length.
DR   MIM; 616371; phenotype.
DR   MedGen; CN230445.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5.
AC   DI-05708
AR   PFBMFT5.
DE   A disease associated with shortened telomeres. Pulmonary fibrosis is
DE   the most common manifestation. Other manifestations include aplastic
DE   anemia due to bone marrow failure, hepatic fibrosis, and increased
DE   cancer risk, particularly myelodysplastic syndrome and acute myeloid
DE   leukemia. Phenotype, age at onset, and severity are determined by
DE   telomere length. PFBMFT5 inheritance is autosomal dominant.
DR   MIM; 618674; phenotype.
DR   MedGen; CN262924.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6.
AC   DI-06355
AR   PFBMFT6.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other
DE   manifestations include aplastic anemia due to bone marrow failure,
DE   hepatic fibrosis, and increased cancer risk, particularly
DE   myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at
DE   onset, and severity are determined by telomere length.
DR   MIM; 619767; phenotype.
DR   MedGen; CN306958.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7.
AC   DI-06677
AR   PFBMFT7.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other features
DE   include aplastic anemia due to bone marrow failure, hepatic fibrosis,
DE   and increased cancer risk. Phenotype, age at onset, and severity are
DE   determined by telomere length. PFBMFT7 patients manifest anemia,
DE   lymphopenia, liver involvement with portal hypertension and
DE   hepatopulmonary syndrome, premature graying of the hair, nail
DE   dystrophy, and predisposition to squamous cell cancers or
DE   myelodysplasia.
DR   MIM; 620365; phenotype.
DR   MedGen; CN327130.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8.
AC   DI-06678
AR   PFBMFT8.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other features
DE   include aplastic anemia due to bone marrow failure, hepatic fibrosis,
DE   and increased cancer risk. Phenotype, age at onset, and severity are
DE   determined by telomere length. PFBMFT8 is characterized by the onset
DE   of progressive pulmonary fibrosis in adulthood, signs of bone marrow
DE   failure, such as thrombocytopenia, liver dysfunction, and features of
DE   dyskeratosis congenita, including premature graying of the hair, in
DE   some affected individuals.
DR   MIM; 620367; phenotype.
DR   MedGen; CN327131.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9.
AC   DI-06698
AR   PFBMFT9.
DE   An autosomal dominant disease associated with shortened telomeres.
DE   Pulmonary fibrosis is the most common manifestation. Other features
DE   include aplastic anemia due to bone marrow failure, hepatic fibrosis,
DE   and increased cancer risk. Phenotype, age at onset, and severity are
DE   determined by telomere length. PFBMFT9 is characterized by the
DE   development of pulmonary fibrosis or hematologic abnormalities in
DE   adulthood. Liver disease may also be present. There is incomplete
DE   penetrance and evidence of genetic anticipation.
SY   Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9.
DR   MIM; 620400; phenotype.
DR   MedGen; CN371932.
DR   MeSH; D000080983.
DR   MeSH; D011658.
//
ID   Pulmonary hypertension, neonatal.
AC   DI-03858
AR   PHN.
DE   A disease characterized by elevated pulmonary artery pressure.
DE   Pulmonary hypertension in the neonate is associated with multiple
DE   underlying problems such as respiratory distress syndrome, meconium
DE   aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary
DE   dysplasia, sepsis, or congenital heart disease.
DR   MIM; 615371; phenotype.
DR   MedGen; C0032768.
DR   MedGen; C3714958.
DR   MeSH; D006976.
//
ID   Pulmonary hypertension, primary, 1.
AC   DI-00942
AR   PPH1.
DE   A rare disorder characterized by plexiform lesions of proliferating
DE   endothelial cells in pulmonary arterioles. The lesions lead to
DE   elevated pulmonary arterial pression, right ventricular failure, and
DE   death. The disease can occur from infancy throughout life and it has a
DE   mean age at onset of 36 years. Penetrance is reduced. Although
DE   familial pulmonary hypertension is rare, cases secondary to known
DE   etiologies are more common and include those associated with the
DE   appetite-suppressant drugs.
DR   MIM; 178600; phenotype.
DR   MedGen; C0152171.
DR   MedGen; C1969342.
DR   MedGen; C1969343.
DR   MedGen; C2750263.
DR   MedGen; C2973725.
DR   MeSH; D006976.
//
ID   Pulmonary hypertension, primary, 2.
AC   DI-03835
AR   PPH2.
DE   A rare disorder characterized by plexiform lesions of proliferating
DE   endothelial cells in pulmonary arterioles. The lesions lead to
DE   elevated pulmonary arterial pression, right ventricular failure, and
DE   death. The disease can occur from infancy throughout life and it has a
DE   mean age at onset of 36 years. Penetrance is reduced. Although
DE   familial pulmonary hypertension is rare, cases secondary to known
DE   etiologies are more common and include those associated with the
DE   appetite-suppressant drugs.
DR   MIM; 615342; phenotype.
DR   MedGen; CN178221.
DR   MeSH; D006976.
//
ID   Pulmonary hypertension, primary, 3.
AC   DI-03836
AR   PPH3.
DE   A rare disorder characterized by plexiform lesions of proliferating
DE   endothelial cells in pulmonary arterioles. The lesions lead to
DE   elevated pulmonary arterial pression, right ventricular failure, and
DE   death. The disease can occur from infancy throughout life and it has a
DE   mean age at onset of 36 years. Penetrance is reduced. Although
DE   familial pulmonary hypertension is rare, cases secondary to known
DE   etiologies are more common and include those associated with the
DE   appetite-suppressant drugs.
DR   MIM; 615343; phenotype.
DR   MedGen; C3809192.
DR   MedGen; CN178222.
DR   MeSH; D006976.
//
ID   Pulmonary hypertension, primary, 4.
AC   DI-03837
AR   PPH4.
DE   A rare disorder characterized by plexiform lesions of proliferating
DE   endothelial cells in pulmonary arterioles. The lesions lead to
DE   elevated pulmonary arterial pression, right ventricular failure, and
DE   death. The disease can occur from infancy throughout life and it has a
DE   mean age at onset of 36 years. Penetrance is reduced. Although
DE   familial pulmonary hypertension is rare, cases secondary to known
DE   etiologies are more common and include those associated with the
DE   appetite-suppressant drugs.
DR   MIM; 615344; phenotype.
DR   MedGen; C3809198.
DR   MedGen; CN178403.
DR   MeSH; D006976.
//
ID   Pulmonary hypertension, primary, 5.
AC   DI-06437
AR   PPH5.
DE   A form of primary pulmonary hypertension, a disease defined by
DE   plexiform lesions of proliferating endothelial cells in pulmonary
DE   arterioles. The lesions lead to elevated pulmonary arterial pression,
DE   right ventricular failure, and death. Primary pulmonary hypertension
DE   exhibits incomplete penetrance, sex bias and variable age of onset,
DE   both within and between families. PPH5 is an autosomal recessive form
DE   characterized by the onset in infancy. Death in early childhood is
DE   common.
DR   MIM; 265400; phenotype.
DR   MedGen; C1849552.
DR   MeSH; D006976.
//
ID   Pulmonary surfactant metabolism dysfunction 1.
AC   DI-00960
AR   SMDP1.
DE   A rare lung disorder due to impaired surfactant homeostasis. It is
DE   characterized by alveolar filling with floccular material that stains
DE   positive using the periodic acid-Schiff method and is derived from
DE   surfactant phospholipids and protein components. Excessive
DE   lipoproteins accumulation in the alveoli results in severe respiratory
DE   distress.
SY   Congenital pulmonary alveolar proteinosis 1.
SY   Interstitial lung disease due to surfactant protein B deficiency.
SY   Interstitial lung disease non-specific due to surfactant protein B deficiency.
SY   PAP.
DR   MIM; 265120; phenotype.
DR   MedGen; C1968602.
DR   MeSH; D011649.
//
ID   Pulmonary surfactant metabolism dysfunction 2.
AC   DI-00961
AR   SMDP2.
DE   A rare disease associated with progressive respiratory insufficiency
DE   and lung disease with a variable clinical course, due to impaired
DE   surfactant homeostasis. It is characterized by alveolar filling with
DE   floccular material that stains positive using the periodic acid-Schiff
DE   method and is derived from surfactant phospholipids and protein
DE   components. Excessive lipoproteins accumulation in the alveoli results
DE   in severe respiratory distress.
SY   Congenital pulmonary alveolar proteinosis 2.
SY   Desquamative interstitial pneumonitis due to surfactant protein C deficiency.
SY   Interstitial lung disease due to surfactant protein C deficiency.
SY   PAP.
DR   MIM; 610913; phenotype.
DR   MedGen; C1970470.
DR   MeSH; D011649.
//
ID   Pulmonary surfactant metabolism dysfunction 3.
AC   DI-00962
AR   SMDP3.
DE   A rare lung disorder due to impaired surfactant homeostasis. It is
DE   characterized by alveolar filling with floccular material that stains
DE   positive using the periodic acid-Schiff method and is derived from
DE   surfactant phospholipids and protein components. Excessive
DE   lipoproteins accumulation in the alveoli results in severe respiratory
DE   distress.
SY   Congenital pulmonary alveolar proteinosis 3.
SY   Interstitial lung disease due to ABCA3 deficiency.
SY   PAP.
DR   MIM; 610921; phenotype.
DR   MedGen; C1970456.
DR   MeSH; D011649.
//
ID   Pulmonary surfactant metabolism dysfunction 4.
AC   DI-00963
AR   SMDP4.
DE   A rare lung disorder due to impaired surfactant homeostasis. It is
DE   characterized by alveolar filling with floccular material that stains
DE   positive using the periodic acid-Schiff method and is derived from
DE   surfactant phospholipids and protein components. Excessive
DE   lipoproteins accumulation in the alveoli results in severe respiratory
DE   distress.
SY   Congenital pulmonary alveolar proteinosis 4.
SY   CSF2RA deficiency.
SY   PAP.
SY   PAP due to CSF2RA deficiency.
DR   MIM; 300770; phenotype.
DR   MedGen; C2677877.
DR   MeSH; D011649.
//
ID   Pulmonary surfactant metabolism dysfunction 5.
AC   DI-03322
AR   SMDP5.
DE   A rare lung disorder due to impaired surfactant homeostasis. It is
DE   characterized by alveolar filling with floccular material that stains
DE   positive using the periodic acid-Schiff method and is derived from
DE   surfactant phospholipids and protein components. Excessive
DE   lipoproteins accumulation in the alveoli results in severe respiratory
DE   distress.
SY   CSF2RB deficiency.
SY   PAP5.
SY   PAP due to CSF2RB deficiency.
SY   Pulmonary alveolar proteinosis 5.
DR   MIM; 614370; phenotype.
DR   MedGen; C3280574.
DR   MeSH; D011649.
//
ID   Pulmonary venoocclusive disease 1, autosomal dominant.
AC   DI-02233
AR   PVOD1.
DE   A disease characterized by widespread fibrous obstruction and intimal
DE   thickening of septal veins and preseptal venules, a low diffusing
DE   capacity for carbon monoxide, occult alveolar hemorrhage, and nodular
DE   ground-glass opacities, septal lines and lymph node enlargement showed
DE   by high-resolution computed tomography of the chest. It is frequently
DE   associated with pulmonary capillary dilatation and proliferation, and
DE   is a rare and devastating cause of pulmonary hypertension.
SY   Pulmonary veno-occlusive disease.
SY   PVOD.
DR   MIM; 265450; phenotype.
DR   MedGen; C0034091.
DR   MeSH; D006976.
DR   MeSH; D011668.
//
ID   Pulmonary venoocclusive disease 2, autosomal recessive.
AC   DI-04023
AR   PVOD2.
DE   A disease characterized by widespread fibrous obstruction and intimal
DE   thickening of septal veins and preseptal venules, a low diffusing
DE   capacity for carbon monoxide, occult alveolar hemorrhage, and nodular
DE   ground-glass opacities, septal lines and lymph node enlargement showed
DE   by high-resolution computed tomography of the chest. It is frequently
DE   associated with pulmonary capillary dilatation and proliferation, and
DE   is a rare and devastating cause of pulmonary hypertension.
SY   Familial pulmonary capillary hemangiomatosis.
DR   MIM; 234810; phenotype.
DR   MedGen; C0340848.
DR   MeSH; D006976.
DR   MeSH; D011668.
//
ID   Purine nucleoside phosphorylase deficiency.
AC   DI-02081
AR   PNPD.
DE   A disorder that interrupts both the catabolism of inosine into
DE   hypoxanthine and guanosine into guanine, and leads to the accumulation
DE   of guanosine, inosine, and their deoxified by-products. The main
DE   clinical presentation is recurrent infections due to severe T-cell
DE   immunodeficiency. Some patients also have neurologic impairment.
SY   Immunodeficiency due to purine nucleoside phosphorylase deficiency.
SY   Nucleoside phosphorylase deficiency.
DR   MIM; 613179; phenotype.
DR   MedGen; C0268125.
DR   MeSH; D011686.
//
ID   Pycnodysostosis.
AC   DI-00964
AR   PKND.
DE   A rare autosomal recessive bone disorder characterized by deformity of
DE   the skull, maxilla and phalanges, osteosclerosis, and fragility of
DE   bone.
DR   MIM; 265800; phenotype.
DR   MedGen; C0238402.
DR   MeSH; D058631.
//
ID   Pyle disease.
AC   DI-04785
AR   PYL.
DE   A disorder characterized by cortical-bone thinning, limb deformity,
DE   bone fragility and fractures.
SY   Metaphyseal dysplasia, Pyle type.
DR   MIM; 265900; phenotype.
DR   MedGen; C0265294.
DR   MeSH; D010009.
//
ID   Pyridoxine-5'-phosphate oxidase deficiency.
AC   DI-02235
AR   PNPOD.
DE   The main feature of neonatal epileptic encephalopathy is the onset
DE   within hours of birth of a severe seizure disorder that does not
DE   respond to anticonvulsant drugs and can be fatal. Seizures can cease
DE   with the administration of PLP, being resistant to treatment with
DE   pyridoxine,.
SY   PNPO deficiency.
SY   PNPO-related neonatal epileptic encephalopathy.
SY   Seizures, pyridoxine-resistant, PLP-sensitive.
DR   MIM; 610090; phenotype.
DR   MedGen; C1864723.
DR   MeSH; D001928.
DR   MeSH; D012640.
//
ID   Pyrin-associated autoinflammatory disease.
AC   DI-05865
AR   PAAND.
DE   An autosomal dominant autoinflammatory disorder characterized by
DE   childhood onset of recurrent episodes of fever, neutrophilic
DE   dermatosis, myalgia and arthralgia. The neutrophilic dermatosis
DE   comprises a spectrum of clinical manifestations, including severe
DE   acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic
DE   small-vessel vasculitis. Pathological examination of affected skin
DE   shows a dense, predominantly neutrophilic, vascular, perivascular, and
DE   interstitial infiltrate. PAAND has incomplete penetrance and variable
DE   expressivity.
SY   AFND.
SY   Gomm-Button disease.
SY   Neutrophilic dermatosis, acute febrile.
SY   SS.
SY   Sweet syndrome.
DR   MIM; 608068; phenotype.
DR   MedGen; C0085077.
DR   MeSH; D056660.
//
ID   Pyruvate carboxylase deficiency.
AC   DI-02237
AR   PC deficiency.
DE   Leads to lactic acidosis, intellectual disability and death. It occurs
DE   in three forms: mild or type A, severe neonatal or type B, and a very
DE   mild lacticacidemia.
DR   MIM; 266150; phenotype.
DR   MedGen; C0034341.
DR   MedGen; C2931141.
//
ID   Pyruvate dehydrogenase E1-alpha deficiency.
AC   DI-02238
AR   PDHAD.
DE   An enzymatic defect causing primary lactic acidosis in children. It is
DE   associated with a broad clinical spectrum ranging from fatal lactic
DE   acidosis in the newborn to chronic neurologic dysfunction with
DE   structural abnormalities in the central nervous system without
DE   systemic acidosis.
SY   Ataxia intermittent with abnormal pyruvate metabolism.
SY   Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency.
SY   Ataxia with lactic acidosis I.
SY   PDH deficiency.
SY   Pyruvate decarboxylase deficiency.
SY   Pyruvate dehydrogenase deficiency.
DR   MIM; 312170; phenotype.
DR   MedGen; C0034345.
DR   MedGen; C1839413.
DR   MedGen; C1839414.
DR   MedGen; C1839885.
DR   MeSH; D015325.
//
ID   Pyruvate dehydrogenase E1-beta deficiency.
AC   DI-03205
AR   PDHBD.
DE   An enzymatic defect causing primary lactic acidosis in children. It is
DE   associated with a broad clinical spectrum ranging from fatal lactic
DE   acidosis in the newborn to chronic neurologic dysfunction with
DE   structural abnormalities in the central nervous system without
DE   systemic acidosis.
SY   PDH deficiency.
SY   Pyruvate dehydrogenase deficiency.
DR   MIM; 614111; phenotype.
DR   MedGen; C1867399.
DR   MedGen; C3279841.
DR   MeSH; D015325.
//
ID   Pyruvate dehydrogenase E2 deficiency.
AC   DI-02239
AR   PDHE2 deficiency.
DE   Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary
DE   lactic acidosis and neurological dysfunction in infancy and early
DE   childhood. In this form of PDH deficiency episodic dystonia is the
DE   major neurological manifestation, with other more common features of
DE   pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being
DE   less prominent.
SY   Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex.
DR   MIM; 245348; phenotype.
DR   MedGen; C1855565.
//
ID   Pyruvate dehydrogenase E3-binding protein deficiency.
AC   DI-01872
AR   PDHXD.
DE   A metabolic disorder characterized by decreased activity of the
DE   pyruvate dehydrogenase complex without observable reduction in the
DE   activities of enzymes E1, E2, or E3. Clinical features include
DE   hypotonia and psychomotor retardation.
SY   Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex.
SY   Lacticacidemia due to PDX1 deficiency.
DR   MIM; 245349; phenotype.
DR   MedGen; C1855553.
DR   MeSH; D000140.
//
ID   Pyruvate dehydrogenase phosphatase deficiency.
AC   DI-02240
AR   PDP deficiency.
DE   Results in lactic acidosis leading to neurological dysfunction.
DR   MIM; 608782; phenotype.
DR   MedGen; C1837429.
//
ID   Pyruvate kinase deficiency of red cells.
AC   DI-00965
AR   PKRD.
DE   A frequent cause of hereditary non-spherocytic hemolytic anemia.
DE   Clinically, pyruvate kinase-deficient patients suffer from a highly
DE   variable degree of chronic hemolysis, ranging from severe neonatal
DE   jaundice and fatal anemia at birth, severe transfusion-dependent
DE   chronic hemolysis, moderate hemolysis with exacerbation during
DE   infection, to a fully compensated hemolysis without apparent anemia.
SY   Hemolytic anemia due to red cell pyruvate kinase deficiency.
SY   Hereditary non-spherocytic hemolytic anemia due to pyruvate kinase deficiency.
SY   HNSHA.
SY   PK deficiency.
SY   Pyruvate kinase deficiency of erythrocyte.
SY   Pyruvate kinase-deficient hemolytic anemia.
SY   Red cell pyruvate kinase deficiency.
DR   MIM; 266200; phenotype.
DR   MedGen; C0340968.
DR   MedGen; C1849472.
DR   MeSH; D000746.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Pyruvate kinase hyperactivity.
AC   DI-02241
AR   PKHYP.
DE   Autosomal dominant phenotype characterized by increase of red blood
DE   cell ATP.
SY   High red cell ATP syndrome.
DR   MIM; 102900; phenotype.
DR   MedGen; C1863224.
//
ID   Quebec platelet disorder.
AC   DI-03256
AR   QPD.
DE   An autosomal dominant bleeding disorder due to a gain-of-function
DE   defect in fibrinolysis. Although affected individuals do not exhibit
DE   systemic fibrinolysis, they show delayed onset bleeding after
DE   challenge, such as surgery. The hallmark of the disorder is markedly
DE   increased PLAU levels within platelets, which causes intraplatelet
DE   plasmin generation and secondary degradation of alpha-granule
DE   proteins.
SY   BDPLT5.
SY   Bleeding disorder platelet-type 5.
SY   Factor V Quebec.
DR   MIM; 601709; phenotype.
DR   MedGen; C1866423.
DR   MeSH; D006470.
//
ID   Question mark ears, isolated.
AC   DI-04053
AR   QME.
DE   An auricular abnormality characterized by a cleft between the lobule
DE   and the lower part of the helix, sometimes accompanied by a prominent
DE   or deficient upper part of the helix, shallow skin dimple on the
DE   posterior surface of the ear, or transposition of the ear
DE   lobe/antitragus.
SY   Congenital auricular cleft.
SY   Cosman deformity of the auricle.
SY   Prominent and constricted ears.
DR   MIM; 612798; phenotype.
DR   MedGen; C2748545.
DR   MeSH; D004427.
//
ID   Rabin-Pappas syndrome.
AC   DI-06563
AR   RAPAS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   severely impaired global development, intellectual disability,
DE   microcephaly, facial dysmorphism, and variable congenital anomalies
DE   affecting the skeletal, genitourinary, cardiac, and other organ
DE   systems.
DR   MIM; 620155; phenotype.
DR   MedGen; CN322640.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Rabson-Mendenhall syndrome.
AC   DI-02242
AR   RMS.
DE   Severe insulin resistance syndrome characterized by insulin-resistant
DE   diabetes mellitus with pineal hyperplasia and somatic abnormalities.
DE   Typical features include coarse, senile-appearing facies, dental and
DE   skin abnormalities, abdominal distension, and phallic enlargement.
DE   Inheritance is autosomal recessive.
SY   Mendenhall syndrome.
DR   MIM; 262190; phenotype.
DR   MedGen; C0271695.
//
ID   Radio-Tartaglia syndrome.
AC   DI-06099
AR   RATARS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia, mild motor difficulties,
DE   impaired intellectual development, speech delay, craniofacial
DE   dysmorphism, and variable behavioral abnormalities.
DR   MIM; 619312; phenotype.
DR   MedGen; CN296672.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Radiohumeral fusions with other skeletal and craniofacial anomalies.
AC   DI-03424
AR   RHFCA.
DE   A disease characterized by craniofacial malformations, occipital
DE   encephalocele, radiohumeral fusions, oligodactyly, advanced osseous
DE   maturation, and calvarial mineralization defects.
SY   Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies.
DR   MIM; 614416; phenotype.
DR   MedGen; C3280729.
DR   MeSH; D013580.
KW   KW-0989:Craniosynostosis.
//
ID   Radioulnar synostosis with amegakaryocytic thrombocytopenia 1.
AC   DI-02243
AR   RUSAT1.
DE   The syndrome consists of an unusual association of bone marrow failure
DE   and skeletal defects. Patients have the same skeletal defects, the
DE   proximal fusion of the radius and ulna, resulting in extremely limited
DE   pronation and supination of the forearm. Some patients have also
DE   symptomatic thrombocytopenia, with bruising and bleeding problems
DE   since birth, necessitating correction by bone marrow or umbilical-cord
DE   stem-cell transplantation.
SY   CTRUS.
SY   Radio-ulnar synostosis with amegakaryocytic thrombocytopenia.
SY   RUSAT.
SY   Thrombocytopenia, congenital, with radioulnar synostosis.
DR   MIM; 605432; phenotype.
DR   MedGen; C1854273.
DR   MeSH; D013580.
DR   MeSH; D013921.
//
ID   Radioulnar synostosis with amegakaryocytic thrombocytopenia 2.
AC   DI-04632
AR   RUSAT2.
DE   An autosomal dominant disease characterized by proximal fusion of the
DE   radius and ulna resulting in extremely limited pronation and
DE   supination of the forearm, and congenital thrombocytopenia that
DE   progresses to pancytopenia.
SY   Radioulnar synostosis and amegakaryocytic thrombocytopenia 2.
DR   MIM; 616738; phenotype.
DR   MedGen; CN234780.
DR   MeSH; D013580.
DR   MeSH; D013921.
//
ID   Radioulnar synostosis, non-syndromic.
AC   DI-05849
AR   RUS.
DE   An autosomal dominant disease characterized by proximal fusion of the
DE   radius and ulna resulting in extremely limited pronation and
DE   supination of the forearm. There are two disease forms. Radioulnar
DE   synostosis type 1 is characterized by a proximal fusion between the
DE   radius and ulna, and the radial head is absent. Radioulnar synostosis
DE   type 2 is characterized by a fusion just distal to the proximal radial
DE   epiphysis, and congenital dislocation of the radial head. In
DE   radioulnar synostosis type 2 there is also a restriction of extension
DE   at the elbow.
DR   MIM; 179300; phenotype.
DR   MedGen; C0158761.
DR   MeSH; D013580.
//
ID   Rafiq syndrome.
AC   DI-03241
AR   RAFQS.
DE   An autosomal recessive disorder characterized by variably impaired
DE   intellectual and motor development, a characteristic facial
DE   dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism
DE   comprises prominent eyebrows with lateral thinning, downward-slanting
DE   palpebral fissures, bulbous tip of the nose, large ears, and a thin
DE   upper lip. Behavioral problems, including overeating, verbal and
DE   physical aggression, have been reported in some cases. Serum
DE   transferrin isoelectric focusing shows a type 2 pattern.
SY   CDG2U.
SY   MRT15.
DR   MIM; 614202; phenotype.
DR   MedGen; C3280127.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Rahman syndrome.
AC   DI-05023
AR   RMNS.
DE   An autosomal dominant syndrome characterized by intellectual
DE   disability and overgrowth manifesting as increased birth length,
DE   height, weight, and/or head circumference.
DR   MIM; 617537; phenotype.
DR   MedGen; CN280277.
DR   MeSH; D006130.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Raine syndrome.
AC   DI-02244
AR   RNS.
DE   An autosomal recessive osteosclerotic bone dysplasia with neonatal
DE   lethal outcome, although some patients survive into childhood.
DE   Clinical features include generalized increase in the density of all
DE   bones and a marked increase in the ossification of the skull,
DE   craniofacial dysplasia and microcephaly.
SY   Lethal osteosclerotic bone dysplasia.
SY   Osteomalacia, sclerosing, with cerebral calcification.
DR   MIM; 259775; phenotype.
DR   MedGen; C1850106.
DR   MeSH; D010026.
//
ID   Rajab interstitial lung disease with brain calcifications 1.
AC   DI-05269
AR   RILDBC1.
DE   An autosomal recessive, lethal neurodevelopmental disorder
DE   characterized by multiple clinical manifestations including
DE   intrauterine growth restriction, failure to thrive, developmental
DE   delay, hypotonia, interstitial lung disease, and liver dysfunction.
DE   Brain imaging shows abnormal periventricular white matter, basal
DE   ganglia echogenicity, cerebral volume loss, incomplete closure of the
DE   Sylvian fissures, and normal myelination.
SY   Developmental delay, small stature, microcephaly, and brain calcifications.
SY   NEDBLLA.
SY   Neurodevelopmental disorder with brain, liver, and lung abnormalities.
SY   Rajab syndrome.
DR   MIM; 613658; phenotype.
DR   MedGen; C3150910.
DR   MeSH; D065886.
//
ID   Rajab interstitial lung disease with brain calcifications 2.
AC   DI-05916
AR   RILDBC2.
DE   An autosomal recessive disorder characterized by interstitial lung
DE   disease, growth delay, hypotonia, liver disease, and brain
DE   abnormalities including diffuse, symmetrical brain calcifications and
DE   periventricular cysts.
DR   MIM; 619013; phenotype.
DR   MedGen; CN283355.
DR   MeSH; D001927.
DR   MeSH; D002114.
DR   MeSH; D017563.
//
ID   RAPADILINO syndrome.
AC   DI-02245
AR   RAPADILINOS.
DE   Disease characterized by radial and patellar aplasia or hypoplasia.
DR   MIM; 266280; phenotype.
DR   MedGen; C1849453.
//
ID   Rapp-Hodgkin syndrome.
AC   DI-00428
AR   RHS.
DE   A form of ectodermal dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures.
DE   Characterized by the combination of anhidrotic ectodermal dysplasia,
DE   cleft lip, and cleft palate. The clinical syndrome is comprised of a
DE   characteristic facies (narrow nose and small mouth), wiry, slow-
DE   growing, and uncombable hair, sparse eyelashes and eyebrows,
DE   obstructed lacrimal puncta/epiphora, bilateral stenosis of external
DE   auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel
DE   hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS
DE   inheritance is autosomal dominant.
SY   Anhidrotic ectodermal dysplasia with cleft lip/palate.
SY   Ectodermal dysplasia, Rapp-Hodgkin type.
SY   EDRH.
SY   Rapp-Hodgkin ectodermal dysplasia.
DR   MIM; 129400; phenotype.
DR   MedGen; CN203427.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   RAS-associated autoimmune leukoproliferative disorder.
AC   DI-03381
AR   RALD.
DE   A disorder of apoptosis, characterized by chronic accumulation of non-
DE   malignant lymphocytes, defective lymphocyte apoptosis, and an
DE   increased risk for the development of hematologic malignancies.
SY   ALPS4.
SY   Autoimmune lymphoproliferative syndrome, type IV.
SY   Autoimmune lymphoproliferative syndrome 4.
DR   MIM; 614470; phenotype.
DR   MedGen; C2674723.
DR   MeSH; D056735.
//
ID   Rauch-Steindl syndrome.
AC   DI-06312
AR   RAUST.
DE   An autosomal dominant disorder characterized by poor pre- and
DE   postnatal growth, facial dysmorphism, and variable developmental delay
DE   with delayed motor and speech acquisition and impaired intellectual.
DE   Other features may include hypotonia and behavioral abnormalities.
DR   MIM; 619695; phenotype.
DR   MedGen; CN305780.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Raynaud-Claes syndrome.
AC   DI-04808
AR   MRXSRC.
DE   An X-linked syndrome characterized by borderline to severe
DE   intellectual disability and impaired language development. Additional
DE   features include behavioral problems, psychiatric disorders, seizures,
DE   progressive ataxia, brain abnormalities, and facial dysmorphisms.
SY   MRX49.
DR   MIM; 300114; phenotype.
DR   MedGen; C3887959.
DR   MedGen; CN031541.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   RECON progeroid syndrome.
AC   DI-06683
AR   RECON.
DE   An autosomal recessive syndrome characterized by short stature,
DE   progeroid facial features, a hypoplastic nose, xeroderma, skin
DE   photosensitivity, muscle wasting with reduced subcutaneous fat, and
DE   slender elongated thumbs.
DR   MIM; 620370; phenotype.
DR   MedGen; CN327050.
DR   MeSH; D019588.
//
ID   Recurrent myoglobinuria mitochondrial.
AC   DI-02775
AR   RM-MT.
DE   Recurrent myoglobinuria is characterized by recurrent attacks of
DE   rhabdomyolysis (necrosis or disintegration of skeletal muscle)
DE   associated with muscle pain and weakness, and followed by excretion of
DE   myoglobin in the urine.
DR   MIM; 550500; phenotype.
DR   MedGen; C1838877.
DR   MeSH; D009212.
//
ID   Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset.
AC   DI-02458
AR   RBMX1A.
DE   A rare myopathy clinically characterized by rapidly progressive
DE   muscular weakness, and pathologically by the presence of
DE   intracytoplasmic inclusion bodies strongly stained by menadione-linked
DE   alpha-glycerophosphate dehydrogenase in the absence of substrate,
DE   alpha-glycerophosphate. The term 'reducing body' refers to the
DE   reducing activity of the inclusions to nitroblue tetrazolium in the
DE   absence of substrate. This condition is also commonly associated with
DE   rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent
DE   in the severe form of the disease, due to respiratory failure.
SY   Myopathy, reducing body, X-linked, early-onset, severe.
DR   MIM; 300717; phenotype.
DR   MedGen; C2678027.
DR   MeSH; D009135.
//
ID   Reducing body myopathy, X-linked 1B, with late childhood or adult onset.
AC   DI-02435
AR   RBMX1B.
DE   A rare myopathy clinically characterized by rapidly progressive
DE   muscular weakness, and pathologically by the presence of
DE   intracytoplasmic inclusion bodies strongly stained by menadione-linked
DE   alpha-glycerophosphate dehydrogenase in the absence of substrate,
DE   alpha-glycerophosphate. The term 'reducing body' refers to the
DE   reducing activity of the inclusions to nitroblue tetrazolium in the
DE   absence of substrate. This condition is also commonly associated with
DE   rimmed vacuoles and cytoplasmic bodies.
DR   MIM; 300718; phenotype.
DR   MedGen; C2678015.
DR   MeSH; D009135.
//
ID   Refsum disease.
AC   DI-00966
AR   RD.
DE   A rare autosomal recessive peroxisomal disorder characterized by the
DE   accumulation of the branched-chain fatty acid, phytanic acid, in blood
DE   and tissues. Cardinal clinical features are retinitis pigmentosa,
DE   peripheral neuropathy, cerebellar ataxia, and elevated protein levels
DE   in the cerebrospinal fluid (CSF). Half of all patients exhibit
DE   generalized, mild to moderate ichthyosis resembling ichthyosis
DE   vulgaris. Less constant features are nerve deafness, anosmia, skeletal
DE   abnormalities, cataracts and cardiac impairment.
SY   Hereditary motor and sensory neuropathy IV.
SY   Heredopathia atactica polyneuritiformis.
SY   HMSN4.
SY   HMSN IV.
SY   Phytanic acid oxidase deficiency.
SY   Refsum's disease.
DR   MIM; 266500; phenotype.
DR   MedGen; C0034960.
DR   MedGen; C2749345.
DR   MeSH; D012035.
KW   KW-0209:Deafness.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0898:Cataract.
KW   KW-0958:Peroxisome biogenesis disorder.
KW   KW-0977:Ichthyosis.
//
ID   Regulator type Rh-null hemolytic anemia.
AC   DI-02251
AR   RHN.
DE   Form of chronic hemolytic anemia in which the red blood cells have a
DE   stomatocytosis and spherocytosis morphology, an increased osmotic
DE   fragility, an altered ion transport system, and abnormal membrane
DE   phospholipid organization.
SY   Rh-deficiency syndrome.
DR   MIM; 268150; phenotype.
DR   MedGen; C0272052.
DR   MedGen; C1849387.
//
ID   Renal cell carcinoma.
AC   DI-02254
AR   RCC.
DE   Renal cell carcinoma is a heterogeneous group of sporadic or
DE   hereditary carcinoma derived from cells of the proximal renal tubular
DE   epithelium. It is subclassified into clear cell renal carcinoma (non-
DE   papillary carcinoma), papillary renal cell carcinoma, chromophobe
DE   renal cell carcinoma, collecting duct carcinoma with medullary
DE   carcinoma of the kidney, and unclassified renal cell carcinoma. Clear
DE   cell renal cell carcinoma is the most common subtype.
SY   Adenocarcinoma of kidney.
SY   CCRCC.
SY   Clear cell renal carcinoma.
SY   Common renal cell carcinoma.
SY   Conventional renal cell carcinoma.
SY   CRCC.
SY   Hypernephroma.
SY   Renal cell carcinoma non-papillary.
DR   MIM; 144700; phenotype.
DR   MedGen; C0279702.
DR   MedGen; C2750825.
DR   MedGen; C3160732.
DR   MeSH; D002292.
//
ID   Renal cell carcinoma papillary.
AC   DI-01732
AR   RCCP.
DE   A subtype of renal cell carcinoma tending to show a tubulo-papillary
DE   architecture formed by numerous, irregular, finger-like projections of
DE   connective tissue. Renal cell carcinoma is a heterogeneous group of
DE   sporadic or hereditary carcinoma derived from cells of the proximal
DE   renal tubular epithelium.
SY   Chromophilic renal cell carcinoma.
SY   PRCC.
DR   MIM; 605074; phenotype.
DR   MedGen; C0007134.
DR   MedGen; C1336839.
DR   MeSH; D002292.
//
ID   Renal cell carcinoma Xp11-associated.
AC   DI-03249
AR   RCCX1.
DE   Renal cell carcinoma is a heterogeneous group of sporadic or
DE   hereditary carcinoma derived from cells of the proximal renal tubular
DE   epithelium. It is subclassified into clear cell renal carcinoma (non-
DE   papillary carcinoma), papillary renal cell carcinoma, chromophobe
DE   renal cell carcinoma, collecting duct carcinoma with medullary
DE   carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1
DE   histology shows both clear cells and papillary architecture, often
DE   with abundant psammoma bodies, although variable histologic features
DE   have been observed.
DR   MIM; 300854; phenotype.
DR   MedGen; C3275446.
DR   MeSH; D002292.
//
ID   Renal cysts and diabetes syndrome.
AC   DI-00967
AR   RCAD.
DE   An autosomal dominant disorder comprising non-diabetic renal disease
DE   resulting from abnormal renal development, and diabetes, which in some
DE   cases occurs earlier than age 25 years and is thus consistent with a
DE   diagnosis of maturity-onset diabetes of the young (MODY5). The renal
DE   disease is highly variable and includes renal cysts, glomerular tufts,
DE   aberrant nephrogenesis, primitive tubules, irregular collecting
DE   systems, oligomeganephronia, enlarged renal pelves, abnormal calyces,
DE   small kidney, single kidney, horseshoe kidney, and hyperuricemic
DE   nephropathy. Affected individuals may also have abnormalities of the
DE   genital tract.
SY   ADTKD3.
SY   Atypical familial juvenile hyperuricemic nephropathy.
SY   Atypical FJHN.
SY   CAKUT with diabetes.
SY   Congenital anomalies of the kidney and urinary tract with diabetes.
SY   Familial hypoplastic glomerulocystic kidney.
SY   Glomerulocystic kidney disease hypoplastic type.
SY   Maturity-onset diabetes of the young type 5.
SY   MODY5.
SY   Renal-diabetes MODY5 syndrome.
SY   Tubulointerstitial kidney disease, autosomal dominant, 3.
DR   MIM; 137920; phenotype.
DR   MedGen; C0431693.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Renal dysplasia, cystic.
AC   DI-03361
AR   CYSRD.
DE   An anomaly of the kidney characterized by numerous renal cysts and
DE   apparent disorder of differentiation of the renal parenchyma. Kidney
DE   of affected individuals lack the normal renal bean shape, and the
DE   collection drainage system. The cystic, dysplastic kidney contains
DE   undifferentiated mesenchyme, cartilaginous tissue, and immature
DE   collecting ducts.
DR   MIM; 601331; phenotype.
DR   MedGen; C1832471.
DR   MedGen; C3275898.
DR   MeSH; D021782.
//
ID   Renal glucosuria.
AC   DI-02255
AR   GLYS.
DE   A disorder characterized by persistent isolated glucosuria, normal
DE   fasting serum glucose concentration, decreased renal tubular
DE   resorption of glucose from the urine, and absence of any other signs
DE   of tubular dysfunction.
SY   Glucosuria, renal.
SY   GLYS1.
DR   MIM; 233100; phenotype.
DR   MedGen; C0017980.
DR   MeSH; D006030.
//
ID   Renal hypodysplasia/aplasia 1.
AC   DI-02253
AR   RHDA1.
DE   A perinatally lethal renal disease encompassing a spectrum of kidney
DE   development defects, including renal agenesis, bilateral renal
DE   aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive
DE   uropathy.
SY   Renal adysplasia.
SY   Renal agenesis.
SY   Renal aplasia.
DR   MIM; 191830; phenotype.
DR   MedGen; C1609433.
DR   MedGen; C1619700.
//
ID   Renal hypodysplasia/aplasia 2.
AC   DI-04110
AR   RHDA2.
DE   A perinatally lethal renal disease encompassing a spectrum of kidney
DE   development defects, including renal agenesis, bilateral renal
DE   aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive
DE   uropathy.
DR   MIM; 615721; phenotype.
DR   MedGen; C3810359.
DR   MedGen; CN185872.
DR   MeSH; D007674.
//
ID   Renal hypodysplasia/aplasia 3.
AC   DI-05149
AR   RHDA3.
DE   A severe, autosomal dominant disease encompassing a spectrum of kidney
DE   development defects. Clinical manifestations are highly variable and
DE   include bilateral or unilateral renal agenesis, renal aplasia,
DE   hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and
DE   vesicoureteral reflux. Bilateral renal agenesis is almost invariably
DE   fatal in utero or in the perinatal period. Unilateral renal agenesis
DE   can lead to future health issues including end-stage renal disease.
DR   MIM; 617805; phenotype.
DR   MedGen; CN703737.
DR   MeSH; D007674.
//
ID   Renal hypodysplasia/aplasia 4.
AC   DI-06433
AR   RHDA4.
DE   An autosomal recessive, severe congenital anomaly of the kidney and
DE   urinary tract characterized by bilateral renal agenesis, and severely
DE   reduced or absent amniotic fluid during pregnancy. Patients exhibit
DE   the Potter sequence, including flattened nose, ear anomalies, and
DE   receding chin. Some affected individuals have limb contractures and
DE   joint dislocations. Bilateral renal agenesis is almost invariably
DE   fatal in utero or in the perinatal period.
DR   MIM; 619887; phenotype.
DR   MedGen; CN312433.
DR   MeSH; D007674.
//
ID   Renal tubular acidosis, distal, 1.
AC   DI-01207
AR   DRTA1.
DE   An autosomal dominant disease characterized by reduced ability to
DE   acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE   nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE   of alpha-intercalated cells of the cortical collecting duct of the
DE   distal nephron, where vectorial proton transport is required for
DE   urinary acidification.
SY   Autosomal dominant RTA distal type.
SY   Renal tubular acidosis I.
SY   RTA classic type.
SY   RTA gradient type.
DR   MIM; 179800; phenotype.
DR   MedGen; C0259810.
DR   MedGen; C2931885.
DR   MeSH; D000141.
//
ID   Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss.
AC   DI-01495
AR   DRTA2.
DE   An autosomal recessive disease characterized by the association of
DE   renal distal tubular acidosis with sensorineural hearing loss. Distal
DE   renal tubular acidosis is characterized by reduced ability to acidify
DE   urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE   nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE   of alpha-intercalated cells of the cortical collecting duct of the
DE   distal nephron, where vectorial proton transport is required for
DE   urinary acidification.
SY   Autosomal recessive renal tubular acidosis with progressive nerve deafness.
SY   Distal renal tubular acidosis with deafness.
SY   Renal tubular acidosis with progressive nerve deafness.
SY   RTA with progressive nerve deafness.
DR   MIM; 267300; phenotype.
DR   MedGen; C0403554.
DR   MeSH; D000141.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
//
ID   Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss.
AC   DI-01496
AR   DRTA3.
DE   An autosomal recessive disease characterized by reduced ability to
DE   acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,
DE   nephrocalcinosis, and nephrolithiasis. It is due to functional failure
DE   of alpha-intercalated cells of the cortical collecting duct of the
DE   distal nephron, where vectorial proton transport is required for
DE   urinary acidification.
SY   Autosomal recessive distal RTA.
SY   Distal renal tubular acidosis with late-onset sensorineural hearing loss.
SY   Distal renal tubular acidosis with preserved hearing.
DR   MIM; 602722; phenotype.
DR   MedGen; C1864498.
DR   MedGen; C1864499.
DR   MeSH; D000141.
//
ID   Renal tubular acidosis, distal, 4, with hemolytic anemia.
AC   DI-01237
AR   DRTA4.
DE   An autosomal recessive disease characterized by the association of
DE   hemolytic anemia with distal renal tubular acidosis, the reduced
DE   ability to acidify urine resulting in variable hyperchloremic
DE   hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
SY   Autosomal recessive distal RTA with hemolytic anemia.
DR   MIM; 611590; phenotype.
DR   MedGen; C1969038.
DR   MeSH; D000141.
//
ID   Renal tubular acidosis, distal, with normal red cell morphology.
AC   DI-03438
AR   dRTA-NRC.
DE   A disease characterized by reduced ability to acidify urine, variable
DE   hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and
DE   nephrolithiasis. It is due to functional failure of alpha-intercalated
DE   cells of the cortical collecting duct of the distal nephron, where
DE   vectorial proton transport is required for urinary acidification.
DR   MIM; 611590; phenotype.
DR   MedGen; C1969039.
DR   MeSH; D000141.
//
ID   Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development.
AC   DI-02226
AR   pRTA-OA.
DE   An extremely rare autosomal recessive syndrome characterized by short
DE   stature, profound proximal renal tubular acidosis, intellectual
DE   disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is
DE   due to a failure of the proximal tubular cells to reabsorb filtered
DE   bicarbonate from the urine, leading to urinary bicarbonate wasting and
DE   subsequent acidemia.
SY   Autosomal recessive proximal RTA.
SY   Proximal renal tubular acidosis with ocular abnormalities.
DR   MIM; 604278; phenotype.
DR   MedGen; C1970309.
DR   MeSH; D000141.
//
ID   Renal tubular dysgenesis.
AC   DI-02257
AR   RTD.
DE   Autosomal recessive severe disorder of renal tubular development
DE   characterized by persistent fetal anuria and perinatal death, probably
DE   due to pulmonary hypoplasia from early-onset oligohydramnios (the
DE   Potter phenotype).
DR   MIM; 267430; phenotype.
DR   MedGen; C0266313.
DR   MedGen; C2678367.
//
ID   Renal-hepatic-pancreatic dysplasia 1.
AC   DI-02259
AR   RHPD1.
DE   A disease characterized by cystic malformations of the kidneys, liver,
DE   and pancreas. The pathological findings consist of multicystic
DE   dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic
DE   pancreas with dilated ducts, cysts, fibrosis and inflammatory
DE   infiltrates.
SY   RHPD.
DR   MIM; 208540; phenotype.
DR   MedGen; C2673883.
DR   MeSH; D000015.
//
ID   Renal-hepatic-pancreatic dysplasia 2.
AC   DI-03891
AR   RHPD2.
DE   A form of renal-hepatic-pancreatic dysplasia, a disease characterized
DE   by cystic malformations of the kidneys, liver, and pancreas. The
DE   pathological findings consist of multicystic dysplastic kidneys,
DE   dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated
DE   ducts, cysts, fibrosis and inflammatory infiltrates.
DR   MIM; 615415; phenotype.
DR   MedGen; C3809434.
DR   MedGen; CN180049.
DR   MeSH; D000015.
//
ID   RENI syndrome.
AC   DI-05043
AR   RENI.
DE   An autosomal recessive, steroid-resistant nephrotic syndrome that
DE   manifests in infancy or early childhood, and progresses to end-stage
DE   renal failure within a few years. Additional clinical features include
DE   ichthyosis, adrenal insufficiency, immunodeficiency, and neurological
DE   defects. In rare cases, patients present with isolated primary adrenal
DE   insufficiency. Some patients present in utero with fetal hydrops and
DE   fetal demise.
SY   Nephrotic syndrome, type 14.
SY   NPHS14.
SY   Sphingosine phosphate lyase insufficiency syndrome.
SY   SPLIS.
DR   MIM; 617575; phenotype.
DR   MedGen; CN339707.
DR   MeSH; D009404.
//
ID   Renpenning syndrome 1.
AC   DI-02260
AR   RENS1.
DE   An X-linked syndrome characterized by intellectual disability,
DE   microcephaly, short stature, and small testes. The craniofacies tends
DE   to be narrow and tall with upslanting palpebral fissures, abnormal
DE   nasal configuration, cupped ears, and short philtrum. The nose may
DE   appear long or bulbous, with overhanging columella. Less consistent
DE   manifestations include ocular colobomas, cardiac malformations, cleft
DE   palate, and anal anomalies.
SY   Golabi-Ito-Hall syndrome.
SY   MRX55.
SY   MRXS3.
SY   MRXS8.
SY   SHS.
DR   MIM; 309500; phenotype.
DR   MedGen; C0796135.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Respiratory distress syndrome in premature infants.
AC   DI-02716
AR   RDS.
DE   A lung disease affecting usually premature newborn infants. It is
DE   characterized by deficient gas exchange, diffuse atelectasis, high-
DE   permeability lung edema and fibrin-rich alveolar deposits called
DE   'hyaline membranes'.
SY   Hyaline membrane disease.
SY   RDS in prematurity.
DR   MIM; 267450; phenotype.
DR   MedGen; C1968593.
DR   MeSH; D006819.
//
ID   Respiratory infections, recurrent, and failure to thrive with or without diarrhea.
AC   DI-06600
AR   RIFTD.
DE   An autosomal recessive disorder characterized by neonatal onset of
DE   recurrent pulmonary infections, coughing, wheezy episodes,
DE   interstitial lung disease, and bronchiectasis. Episodes of vomiting
DE   and chronic diarrhea result in failure to thrive. Results of sweat
DE   chloride and pancreatic elastase tests are normal.
DR   MIM; 620233; phenotype.
DR   MedGen; CN323198.
DR   MeSH; D003967.
DR   MeSH; D012141.
//
ID   Respiratory papillomatosis, juvenile recurrent, congenital.
AC   DI-05784
AR   JRRP.
DE   An autosomal recessive disease characterized by recurrent growth of
DE   papillomas in the respiratory tract, and onset in early childhood.
DE   Papillomas are most commonly found in the larynx but may occur
DE   anywhere from the mouth to the bronchi. Children typically present
DE   within the first years of life with hoarseness or, in more severe
DE   cases, respiratory distress or stridor and airway obstruction. JRRP is
DE   associated with infection of the upper airway by human
DE   papillomaviruses of the alpha genus. The infection is thought to occur
DE   by vertical transmission at birth.
DR   MIM; 618803; phenotype.
DR   MedGen; CN263365.
DR   MeSH; D012141.
DR   MeSH; D030361.
//
ID   Restless legs syndrome 6.
AC   DI-02843
AR   RLS6.
DE   A neurologic sleep/wake disorder characterized by uncomfortable and
DE   unpleasant sensations in the legs that appear at rest, usually at
DE   night, inducing an irresistible desire to move the legs. The disorder
DE   results in nocturnal insomnia and chronic sleep deprivation. The
DE   majority of patients also have periodic limb movements in sleep, which
DE   are characterized by involuntary, highly stereotypical, regularly
DE   occurring limb movements that occur during sleep.
DR   MIM; 611185; phenotype.
DR   MedGen; C1970020.
DR   MeSH; D012148.
//
ID   Restless legs syndrome 7.
AC   DI-02589
AR   RLS7.
DE   A neurologic sleep/wake disorder characterized by uncomfortable and
DE   unpleasant sensations in the legs that appear at rest, usually at
DE   night, inducing an irresistible desire to move the legs. The disorder
DE   results in nocturnal insomnia and chronic sleep deprivation. The
DE   majority of patients also have periodic limb movements in sleep, which
DE   are characterized by involuntary, highly stereotypical, regularly
DE   occurring limb movements that occur during sleep.
DR   MIM; 612853; phenotype.
DR   MedGen; C2748506.
DR   MeSH; D012148.
//
ID   Restrictive dermopathy 1.
AC   DI-01894
AR   RSDM1.
DE   An autosomal recessive form of restrictive dermopathy, a
DE   genodermatosis mainly characterized by intrauterine growth
DE   retardation, tight and rigid skin with erosions, prominent superficial
DE   vasculature and epidermal hyperkeratosis, facial dysmorphism,
DE   sparse/absent eyelashes and eyebrows, mineralization defects of the
DE   skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint
DE   contractures and an early neonatal lethal course. Liveborn children
DE   usually die within the first week of life.
SY   Fetal hypokinesia sequence due to restrictive dermopathy.
SY   Hyperkeratosis-contracture syndrome.
SY   Lethal tight skin contracture syndrome.
SY   Restrictive dermopathy 1, lethal.
SY   Tight skin contracture syndrome, lethal.
DR   MIM; 275210; phenotype.
DR   MedGen; C0406585.
DR   MeSH; D012868.
//
ID   Restrictive dermopathy 2.
AC   DI-06366
AR   RSDM2.
DE   An autosomal dominant form of restrictive dermopathy, a genodermatosis
DE   mainly characterized by intrauterine growth retardation, tight and
DE   rigid skin with erosions, prominent superficial vasculature and
DE   epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes
DE   and eyebrows, mineralization defects of the skull, thin dysplastic
DE   clavicles, pulmonary hypoplasia, multiple joint contractures and an
DE   early neonatal lethal course. Liveborn children usually die within the
DE   first week of life.
SY   Restrictive dermopathy 2 , lethal.
DR   MIM; 619793; phenotype.
DR   MedGen; CN307038.
DR   MeSH; D012868.
//
ID   Reticular dysgenesis.
AC   DI-02261
AR   RDYS.
DE   A fatal form of severe combined immunodeficiency, characterized by
DE   absence of granulocytes, almost complete deficiency of lymphocytes in
DE   peripheral blood, hypoplasia of the thymus and secondary lymphoid
DE   organs, and lack of innate and adaptive humoral and cellular immunity,
DE   leading to fatal septicemia within days after birth. In bone marrow of
DE   individuals with reticular dysgenesis, myeloid differentiation is
DE   blocked at the promyelocytic stage, whereas erythro- and
DE   megakaryocytic maturation is generally normal. Inheritance is
DE   autosomal recessive.
SY   Aleukocytosis.
SY   Congenital aleukia.
SY   De Vaal disease.
SY   Hematopoietic hypoplasia, generalized.
SY   Severe combined immunodeficiency with leukopenia.
DR   MIM; 267500; phenotype.
DR   MedGen; C0272167.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Reticulate acropigmentation of Kitamura.
AC   DI-03962
AR   RAK.
DE   A rare cutaneous pigmentation disorder characterized by reticulate,
DE   slightly depressed, sharply demarcated brown macules without
DE   hypopigmentation, affecting the dorsa of the hands and feet and
DE   appearing in the first or second decade of life. The macules gradually
DE   darken and extend to the proximal regions of the extremities. The
DE   manifestations tend to progress until middle age, after which
DE   progression of the eruptions stops. The pigmentary augmentation is
DE   found on the flexor aspects of the wrists, neck, patella and
DE   olecranon. Other features include breaks in the epidermal ridges on
DE   the palms and fingers, palmoplantar pits, occasionally plantar
DE   keratoderma, and partial alopecia.
SY   Acropigmentatio reticularis.
SY   Kitamura reticulate acropigmentation.
SY   Reticulate pigmentation of Kitamura.
SY   RPK.
DR   MIM; 615537; phenotype.
DR   MeSH; D010859.
//
ID   Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.
AC   DI-03265
AR   RAMSVPS.
DE   An autosomal recessive condition characterized by the bilateral
DE   appearance of 'beading' along the major retinal arterial trunks, with
DE   the subsequent formation of macroaneurysms. Affected individuals also
DE   have supravalvular pulmonic stenosis, often requiring surgical
DE   correction.
DR   MIM; 614224; phenotype.
DR   MedGen; C3280205.
DR   MeSH; D000783.
DR   MeSH; D011666.
DR   MeSH; D012164.
//
ID   Retinal cone dystrophy 4.
AC   DI-02262
AR   RCD4.
DE   Characterized by minimal symptoms except for slowly progressive
DE   reduction in visual acuity.
DR   MIM; 610478; phenotype.
DR   MedGen; C1864849.
//
ID   Retinal degeneration autosomal recessive clumped pigment type.
AC   DI-03088
AR   RDCP.
DE   A retinopathy characterized by night blindness since early childhood,
DE   consistent with a severe reduction in rod function. Color vision is
DE   normal although there is a relatively enhanced function of short-
DE   wavelength-sensitive cones in the macula. Signs of retinal
DE   degeneration and clusters of clumped pigment deposits in the
DE   peripheral fundus at the level of the retinal pigment epithelium are
DE   present.
SY   Clumped pigmentary retinal degeneration.
DR   MIM; 613750; phenotype.
DR   MedGen; C1834330.
DR   MeSH; D012162.
//
ID   Retinal dystrophy and microvillus inclusion disease.
AC   DI-06172
AR   RDMVID.
DE   An autosomal recessive disease characterized by early-onset, severe
DE   retinal dystrophy associated with intractable congenital diarrhea.
DE   Intestinal biopsies show loss of microvilli, microvillus inclusions,
DE   and accumulation of subapical vesicles in villus enterocytes.
DR   MIM; 619446; phenotype.
DR   MedGen; CN300063.
DR   MeSH; D003968.
DR   MeSH; D008286.
DR   MeSH; D058499.
//
ID   Retinal dystrophy and obesity.
AC   DI-04298
AR   RDOB.
DE   A disease characterized by obesity, night blindness, decreased visual
DE   acuity, and electrophysiological features of a rod cone dystrophy.
DR   MIM; 616188; phenotype.
DR   MedGen; CN225049.
DR   MeSH; D009765.
DR   MeSH; D058499.
KW   KW-0550:Obesity.
//
ID   Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities.
AC   DI-04272
AR   RDGCA.
DE   An autosomal dominant retinal dystrophy characterized by inner retinal
DE   dysfunction in association with ganglion cell abnormalities. Clinical
DE   features include mild photophobia, progressive loss of central vision,
DE   night blindness, and hyperreflectivity of nerve and ganglion cell
DE   layers.
DR   MIM; 616079; phenotype.
DR   MedGen; CN221090.
DR   MeSH; D058499.
//
ID   Retinal dystrophy with leukodystrophy.
AC   DI-05818
AR   RDLKD.
DE   An autosomal recessive disorder characterized by progressive
DE   leukodystrophy associated with developmental delay, spastic
DE   paraparesis, ataxia, and retinal dystrophy. Patients may show facial
DE   dysmorphism. Laboratory investigations reveal an abnormal profile of
DE   very-long chain fatty acid in plasma.
DR   MIM; 618863; phenotype.
DR   MedGen; CN280859.
DR   MeSH; D020279.
DR   MeSH; D058499.
KW   KW-1026:Leukodystrophy.
//
ID   Retinal dystrophy with or without extraocular anomalies.
AC   DI-04885
AR   RDEOA.
DE   An autosomal recessive disease characterized by progressive retinal
DE   dystrophy, chorioretinal macular atrophy, reduced cone and rod
DE   responses on ERG, and decrease visual acuity. Extraocular anomalies
DE   are variably present in some patients and include pulmonary fibrosis,
DE   sensorineural hearing loss, and endocrine features such as goiter and
DE   primary ovarian insufficiency.
DR   MIM; 617175; phenotype.
DR   MedGen; CN238856.
DR   MeSH; D058499.
//
ID   Retinal dystrophy with or without macular staphyloma.
AC   DI-05024
AR   RDMS.
DE   An ocular disorder characterized by decreased vision which worsen over
DE   time, and dystrophic changes in the retina, such as retinal pigment
DE   epithelium mottling and vessel narrowing. Macular staphyloma, without
DE   high myopia, is present in some patients.
DR   MIM; 617547; phenotype.
DR   MedGen; CN270122.
DR   MeSH; D058499.
KW   KW-1186:Ciliopathy.
//
ID   Retinal dystrophy, early-onset, with or without pituitary dysfunction.
AC   DI-04439
AR   RDEOP.
DE   An autosomal dominant ocular disease characterized by pattern
DE   dystrophy of the retinal pigment epithelium, and photoreceptor
DE   degeneration. Mild developmental anomalies include optic nerve head
DE   dysplasia, microcornea, and Rathke's cleft cyst. Some patients
DE   manifest pituitary dysfunction.
DR   MIM; 610125; phenotype.
DR   MedGen; C3149814.
DR   MeSH; D058499.
//
ID   Retinal dystrophy, iris coloboma, and comedogenic acne syndrome.
AC   DI-02265
AR   RDCCAS.
DE   A disease characterized by retinal degeneration, ocular colobomas
DE   involving both the anterior and posterior segment, impaired night
DE   vision and loss of visual acuity. Additional characteristic features
DE   include developmental abnormalities and severe acne.
DR   MIM; 615147; phenotype.
DR   MedGen; C3554593.
DR   MedGen; CN168288.
DR   MeSH; D000152.
DR   MeSH; D003103.
DR   MeSH; D058499.
//
ID   Retinal dystrophy, juvenile cataracts, and short stature syndrome.
AC   DI-04303
AR   RDJCSS.
DE   A disorder characterized by retinal dystrophy resulting in progressive
DE   decrease in visual acuity and difficulties with night vision in the
DE   first decade of life, development of juvenile cataracts, facial
DE   dysmorphism, psychomotor developmental delays, learning disabilities
DE   and short stature. Ophthalmological findings include salt-and-pepper
DE   retinopathy, attenuation of the arterioles, generalized rod-cone
DE   dysfunction, mottled macula at an early age, and peripapillary sparing
DE   of the retinal pigment epithelium.
DR   MIM; 616108; phenotype.
DR   MedGen; CN221538.
DR   MeSH; D002386.
DR   MeSH; D004392.
DR   MeSH; D058499.
KW   KW-0242:Dwarfism.
KW   KW-0898:Cataract.
//
ID   Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.
AC   DI-05949
AR   ROSAH.
DE   An autosomal dominant disorder characterized by decreased vision
DE   associated with optic nerve edema, evident in childhood. Low-grade
DE   ocular inflammation is common in affected individuals. Later in
DE   childhood or the second decade of life, patients have increasing
DE   visual impairment, abnormal cone function and loss of rod function. By
DE   the third decade of life, visual acuity ranges from counting fingers
DE   to no light perception. Patients also show anhidrosis, splenomegaly,
DE   mild pancytopenia, and most experience headaches that may be migraine-
DE   like in nature.
SY   Splenomegaly, cytopenia, and vision loss.
DR   MIM; 614979; phenotype.
DR   MedGen; C3554278.
DR   MeSH; D007007.
DR   MeSH; D013163.
DR   MeSH; D058499.
//
ID   Retinitis pigmentosa.
AC   DI-00969
AR   RP.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. Retinitis pigmentosa can be inherited as an autosomal dominant,
DE   autosomal recessive or X-linked condition.
SY   Non-syndromic retinitis pigmentosa.
SY   RCD.
SY   Rod-cone dystrophy.
DR   MIM; 268000; phenotype.
DR   MedGen; C0035334.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 1.
AC   DI-00971
AR   RP1.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 180100; phenotype.
DR   MedGen; C0220701.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 10.
AC   DI-00977
AR   RP10.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 180105; phenotype.
DR   MedGen; C1867299.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 11.
AC   DI-00978
AR   RP11.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 600138; phenotype.
DR   MedGen; C1838601.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 12.
AC   DI-00979
AR   RP12.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. RP12 is an autosomal recessive, severe form often manifesting in
DE   early childhood. Patients experiment progressive visual field loss
DE   with severe visual impairment before the age of twenty. Some patients
DE   have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and
DE   hypermetropia.
SY   Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium.
SY   RP with or without PPRPE.
SY   RP with or without preserved paraarteriole retinal pigment epithelium.
DR   MIM; 600105; phenotype.
DR   MedGen; C1838647.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 13.
AC   DI-00980
AR   RP13.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 600059; phenotype.
DR   MedGen; C1838702.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 14.
AC   DI-00981
AR   RP14.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   Retinitis pigmentosa juvenile TULP1-related.
DR   MIM; 600132; phenotype.
DR   MedGen; C1838603.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 17.
AC   DI-00983
AR   RP17.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 600852; phenotype.
DR   MedGen; C1833245.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 18.
AC   DI-00984
AR   RP18.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 601414; phenotype.
DR   MedGen; C1832378.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 19.
AC   DI-00985
AR   RP19.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. RP19 is characterized by choroidal atrophy.
DR   MIM; 601718; phenotype.
DR   MedGen; C1866422.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 2.
AC   DI-00972
AR   RP2.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   X-linked retinitis pigmentosa 2.
SY   XLRP2.
SY   XLRP-2.
DR   MIM; 312600; phenotype.
DR   MedGen; C2681923.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 20.
AC   DI-00986
AR   RP20.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613794; phenotype.
DR   MedGen; C3151086.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 23.
AC   DI-04060
AR   RP23.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 300424; phenotype.
DR   MedGen; C1845542.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 25.
AC   DI-00987
AR   RP25.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 602772; phenotype.
DR   MedGen; C1864446.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 26.
AC   DI-00988
AR   RP26.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 608380; phenotype.
DR   MedGen; C1842127.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 27.
AC   DI-00989
AR   RP27.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613750; phenotype.
DR   MedGen; C1834329.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 28.
AC   DI-02911
AR   RP28.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 606068; phenotype.
DR   MedGen; C1853734.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 3.
AC   DI-00973
AR   RP3.
DE   An X-linked retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. In RP3, affected males have a severe phenotype, and carrier
DE   females show a wide spectrum of clinical features ranging from
DE   completely asymptomatic to severe retinitis pigmentosa. Heterozygous
DE   women can manifest a form of choroidoretinal degeneration which is
DE   distinguished from other types by the absence of visual defects in the
DE   presence of a brilliant, scintillating, golden-hued, patchy appearance
DE   most striking around the macula, called a tapetal-like retinal reflex.
SY   Choroidoretinal degeneration with retinal reflex in heterozygous women.
SY   Retinitis pigmentosa 15.
SY   Retinitis pigmentosa type 15.
SY   RP15.
SY   X-linked cone-rod degeneration.
SY   X-linked retinitis pigmentosa 3.
SY   XLRP3.
SY   XLRP-3.
DR   MIM; 300029; phenotype.
DR   MedGen; C1845667.
DR   MedGen; C1848295.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 30.
AC   DI-00990
AR   RP30.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 607921; phenotype.
DR   MedGen; C1842816.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 31.
AC   DI-00991
AR   RP31.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 609923; phenotype.
DR   MedGen; C1835923.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 32.
AC   DI-05880
AR   RP32.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP32
DE   inheritance is autosomal recessive.
DR   MIM; 609913; phenotype.
DR   MedGen; C1835927.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 33.
AC   DI-02672
AR   RP33.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 610359; phenotype.
DR   MedGen; C1835895.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 35.
AC   DI-00992
AR   RP35.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 610282; phenotype.
DR   MedGen; C1853214.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 36.
AC   DI-02263
AR   RP36.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 610599; phenotype.
DR   MedGen; C1864621.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 37.
AC   DI-00993
AR   RP37.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 611131; phenotype.
DR   MedGen; C1970163.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 38.
AC   DI-03030
AR   RP38.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613862; phenotype.
DR   MedGen; C3151228.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 39.
AC   DI-00994
AR   RP39.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613809; phenotype.
DR   MedGen; C3151138.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 4.
AC   DI-00974
AR   RP4.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613731; phenotype.
DR   MedGen; C3151001.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 40.
AC   DI-03031
AR   RP40.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613801; phenotype.
DR   MedGen; C3151107.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 41.
AC   DI-00995
AR   RP41.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   Retinal degeneration autosomal recessive prominin-related.
DR   MIM; 612095; phenotype.
DR   MedGen; C2677516.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 42.
AC   DI-02473
AR   RP42.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 612943; phenotype.
DR   MedGen; C2751986.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 43.
AC   DI-03032
AR   RP43.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613810; phenotype.
DR   MedGen; C3151139.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 44.
AC   DI-03033
AR   RP44.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613769; phenotype.
DR   MedGen; C3151068.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 45.
AC   DI-02264
AR   RP45.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613767; phenotype.
DR   MedGen; C3151066.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 46.
AC   DI-00996
AR   RP46.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   Retinitis pigmentosa autosomal recessive IDH3B-related.
DR   MIM; 612572; phenotype.
DR   MedGen; C2675496.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 47.
AC   DI-03034
AR   RP47.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613758; phenotype.
DR   MedGen; C3151061.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 48.
AC   DI-03035
AR   RP48.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613827; phenotype.
DR   MedGen; C3151190.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 49.
AC   DI-03002
AR   RP49.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613756; phenotype.
DR   MedGen; C3151059.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 50.
AC   DI-01386
AR   RP50.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   Retinitis pigmentosa concentric.
DR   MIM; 613194; phenotype.
DR   MedGen; C2750788.
DR   MedGen; C2750789.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 51.
AC   DI-02707
AR   RP51.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613464; phenotype.
DR   MedGen; C3150715.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 53.
AC   DI-02918
AR   RP53.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. RP53 inheritance is autosomal dominant or autosomal recessive.
DR   MIM; 612712; phenotype.
DR   MedGen; C3150208.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 54.
AC   DI-02708
AR   RP54.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613428; phenotype.
DR   MedGen; C3150691.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 55.
AC   DI-02896
AR   RP55.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613575; phenotype.
DR   MedGen; C3150808.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 56.
AC   DI-02907
AR   RP56.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613581; phenotype.
DR   MedGen; C3150819.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 57.
AC   DI-02908
AR   RP57.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613582; phenotype.
DR   MedGen; C3150821.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 58.
AC   DI-02909
AR   RP58.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613617; phenotype.
DR   MedGen; C3150879.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 59.
AC   DI-03036
AR   RP59.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613861; phenotype.
DR   MedGen; C3151227.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 60.
AC   DI-03116
AR   RP60.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 613983; phenotype.
DR   MedGen; C3151434.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 61.
AC   DI-03234
AR   RP61.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 614180; phenotype.
DR   MedGen; C3280041.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 62.
AC   DI-03235
AR   RP62.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 614181; phenotype.
DR   MedGen; C3280042.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 64.
AC   DI-03356
AR   RP64.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 614500; phenotype.
DR   MedGen; C3281046.
DR   MedGen; CN121949.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 65.
AC   DI-06653
AR   RP65.
DE   An autosomal recessive form of retinitis pigmentosa, a retinal
DE   dystrophy belonging to the group of pigmentary retinopathies.
DE   Retinitis pigmentosa is characterized by retinal pigment deposits
DE   visible on fundus examination and primary loss of rod photoreceptor
DE   cells followed by secondary loss of cone photoreceptors. Patients
DE   typically have night vision blindness and loss of midperipheral visual
DE   field. As their condition progresses, they lose their far peripheral
DE   visual field and eventually central vision as well. RP65 is an adult-
DE   onset form, with night blindness developing in the second to fourth
DE   decades of life.
DR   MIM; 613660; phenotype.
DR   MedGen; C3552852.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 66.
AC   DI-03727
AR   RP66.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 615233; phenotype.
DR   MedGen; C3715216.
DR   MedGen; CN169677.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 67.
AC   DI-03990
AR   RP67.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 615565; phenotype.
DR   MedGen; C3809954.
DR   MedGen; CN182503.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 68.
AC   DI-04064
AR   RP68.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 615725; phenotype.
DR   MedGen; C3810380.
DR   MedGen; CN185699.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 69.
AC   DI-04068
AR   RP69.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 615780; phenotype.
DR   MedGen; CN187047.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 7.
AC   DI-00975
AR   RP7.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
SY   Retinitis pigmentosa 7 digenic.
DR   MIM; 608133; phenotype.
DR   MedGen; C1842475.
DR   MedGen; C2675552.
DR   MedGen; C2675553.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 70.
AC   DI-04177
AR   RP70.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 615922; phenotype.
DR   MedGen; CN207510.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 71.
AC   DI-04435
AR   RP71.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 616394; phenotype.
DR   MedGen; CN230762.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 72.
AC   DI-04485
AR   RP72.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 616469; phenotype.
DR   MedGen; CN231688.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 73.
AC   DI-04519
AR   RP73.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 616544; phenotype.
DR   MedGen; CN232556.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 74.
AC   DI-04520
AR   RP74.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 616562; phenotype.
DR   MedGen; CN232915.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 75.
AC   DI-04756
AR   RP75.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP75 inheritance is autosomal
DE   recessive.
DR   MIM; 617023; phenotype.
DR   MedGen; CN237174.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 76.
AC   DI-04824
AR   RP76.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP76 inheritance is autosomal
DE   recessive.
DR   MIM; 617123; phenotype.
DR   MedGen; CN238501.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 77.
AC   DI-04926
AR   RP77.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP77 inheritance is autosomal
DE   recessive.
DR   MIM; 617304; phenotype.
DR   MedGen; CN239959.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 78.
AC   DI-04985
AR   RP78.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP78 inheritance is autosomal
DE   recessive.
DR   MIM; 617433; phenotype.
DR   MedGen; CN241844.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 79.
AC   DI-04983
AR   RP79.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP79 inheritance is autosomal
DE   dominant.
DR   MIM; 617460; phenotype.
DR   MedGen; CN242289.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 80.
AC   DI-05130
AR   RP80.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well. RP80 inheritance is autosomal recessive.
DR   MIM; 617781; phenotype.
DR   MedGen; CN638473.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 81.
AC   DI-05187
AR   RP81.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP81 inheritance is autosomal
DE   recessive.
DR   MIM; 617871; phenotype.
DR   MedGen; CN802781.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 82 with or without situs inversus.
AC   DI-03887
AR   RP82.
DE   An autosomal recessive disorder characterized by variable association
DE   of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. Situs inversus is a congenital
DE   abnormality in which organs in the thorax and the abdomen are opposite
DE   to their normal positions due to lateral transposition.
DR   MIM; 615434; phenotype.
DR   MedGen; C3809503.
DR   MedGen; CN180162.
DR   MeSH; D012174.
DR   MeSH; D012857.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 83.
AC   DI-05372
AR   RP83.
DE   An autosomal dominant form of retinitis pigmentosa, a retinal
DE   dystrophy belonging to the group of pigmentary retinopathies.
DE   Retinitis pigmentosa is characterized by retinal pigment deposits
DE   visible on fundus examination and primary loss of rod photoreceptor
DE   cells followed by secondary loss of cone photoreceptors. Patients
DE   typically have night vision blindness and loss of midperipheral visual
DE   field. As their condition progresses, they lose their far peripheral
DE   visual field and eventually central vision as well.
DR   MIM; 618173; phenotype.
DR   MedGen; CN257758.
DR   MeSH; D012174.
//
ID   Retinitis pigmentosa 84.
AC   DI-05397
AR   RP84.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP84 is an autosomal recessive,
DE   early onset form characterized by night blindness by age 4 and
DE   complete blindness by age 8. Funduscopy shows severely attenuated
DE   retinal vessels, severe macular atrophy, and prominent and deep
DE   macular colobomas lacking neuroretinal tissue.
DR   MIM; 618220; phenotype.
DR   MedGen; CN257494.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 85.
AC   DI-05496
AR   RP85.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP85 is an autosomal recessive form
DE   manifesting as early-onset progressive difficulty to adapt in dim
DE   light and gradually decreasing visual acuity in both eyes.
DR   MIM; 618345; phenotype.
DR   MedGen; CN258234.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 86.
AC   DI-05674
AR   RP86.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. As their
DE   condition progresses, they lose their far peripheral visual field and
DE   eventually central vision as well. RP86 is an autosomal recessive
DE   form.
DR   MIM; 618613; phenotype.
DR   MedGen; CN262376.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 87 with choroidal involvement.
AC   DI-05716
AR   RP87.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP87 is an
DE   autosomal dominant form characterized by a slowly progressive visual
DE   disturbance accompanied by extensive choroid/retinal atrophy that
DE   mimics certain aspects of choroideremia. Disease severity and age of
DE   onset are variable, and some carriers are unaffected.
DR   MIM; 618697; phenotype.
DR   MedGen; CN276908.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 88.
AC   DI-05776
AR   RP88.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP88 is an
DE   autosomal recessive form.
DR   MIM; 618826; phenotype.
DR   MedGen; CN263396.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 89.
AC   DI-05879
AR   RP89.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP89 is an
DE   autosomal dominant form associated with features of ciliopathy,
DE   including postaxial polydactyly, and renal and hepatic disease.
DR   MIM; 618955; phenotype.
DR   MedGen; CN283270.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis pigmentosa 9.
AC   DI-00976
AR   RP9.
DE   A retinal dystrophy belonging to the group of pigmentary
DE   retinopathies. Retinitis pigmentosa is characterized by retinal
DE   pigment deposits visible on fundus examination and primary loss of rod
DE   photoreceptor cells followed by secondary loss of cone photoreceptors.
DE   Patients typically have night vision blindness and loss of
DE   midperipheral visual field. As their condition progresses, they lose
DE   their far peripheral visual field and eventually central vision as
DE   well.
DR   MIM; 180104; phenotype.
DR   MedGen; C1867300.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 90.
AC   DI-05910
AR   RP90.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP90 is an
DE   autosomal recessive form.
DR   MIM; 619007; phenotype.
DR   MedGen; CN283346.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 91.
AC   DI-06234
AR   RP91.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP91 is an
DE   autosomal dominant form with bone-spicule pigmentation, attenuation of
DE   retinal vessels, and optic disk pallor on funduscopy. Patients may
DE   also experience early macular involvement, with photophobia and
DE   reduced visual acuity, and some show a bull's eye pattern of macular
DE   atrophy.
SY   BCAMD.
SY   Macular dystrophy, benign concentric annular.
SY   Macular dystrophy, concentric annular.
SY   MCDCA.
DR   MIM; 153870; phenotype.
DR   MedGen; C1828210.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 92.
AC   DI-06270
AR   RP92.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP92 is an
DE   autosomal recessive, mild form with onset of night blindness and
DE   vision loss in the third to sixth decades of life.
DR   MIM; 619614; phenotype.
DR   MedGen; CN301253.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 93.
AC   DI-06401
AR   RP93.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP93 is an
DE   autosomal recessive, mild to moderate form, with onset in the second
DE   or third decade of life.
DR   MIM; 619845; phenotype.
DR   MedGen; CN311569.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 94, variable age at onset, autosomal recessive.
AC   DI-06495
AR   RP94.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field.
DR   MIM; 604232; phenotype.
DR   MedGen; C1858677.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 95.
AC   DI-06515
AR   RP95.
DE   A form of retinitis pigmentosa, a retinal dystrophy belonging to the
DE   group of pigmentary retinopathies. Retinitis pigmentosa is
DE   characterized by retinal pigment deposits visible on fundus
DE   examination and primary loss of rod photoreceptor cells followed by
DE   secondary loss of cone photoreceptors. Patients typically have night
DE   vision blindness and loss of midperipheral visual field. RP95 is an
DE   autosomal recessive form characterized by pale optic disks,
DE   attenuation of retinal vessels, and atrophy of the retinal pigment
DE   epithelium with bone-spicule pigmentation.
DR   MIM; 620102; phenotype.
DR   MedGen; CN322361.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 96.
AC   DI-06581
AR   RP96.
DE   An autosomal dominant form of retinitis pigmentosa, a retinal
DE   dystrophy belonging to the group of pigmentary retinopathies.
DE   Retinitis pigmentosa is characterized by retinal pigment deposits
DE   visible on fundus examination and primary loss of rod photoreceptor
DE   cells followed by secondary loss of cone photoreceptors. Patients
DE   typically have night vision blindness and loss of midperipheral visual
DE   field.
DR   MIM; 620228; phenotype.
DR   MedGen; CN323194.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa 97.
AC   DI-06704
AR   RP97.
DE   An autosomal dominant form of retinitis pigmentosa, a retinal
DE   dystrophy belonging to the group of pigmentary retinopathies.
DE   Retinitis pigmentosa is characterized by retinal pigment deposits
DE   visible on fundus examination and primary loss of rod photoreceptor
DE   cells followed by secondary loss of cone photoreceptors. Patients
DE   typically have night vision blindness and loss of midperipheral visual
DE   field. RP97 is characterized by onset of night blindness and visual
DE   field defects in the first decade of life.
DR   MIM; 620422; phenotype.
DR   MedGen; CN372204.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa and erythrocytic microcytosis.
AC   DI-04725
AR   RPEM.
DE   An autosomal recessive disease characterized by retinitis pigmentosa,
DE   red blood cell microcytosis and anisocytosis with mild anemia.
DR   MIM; 616959; phenotype.
DR   MedGen; CN236716.
DR   MeSH; D006402.
DR   MeSH; D012174.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Retinitis pigmentosa with or without skeletal anomalies.
AC   DI-05006
AR   RPSKA.
DE   An autosomal recessive disease characterized by retinal degeneration,
DE   brachydactyly, short stature, craniofacial dysmorphism, and neurologic
DE   defects. Retinal defects are consistent with retinitis pigmentosa in
DE   most patients. Neurologic manifestations include mild-to-moderate
DE   intellectual disability and psychomotor retardation.
SY   Metaphyseal chondrodysplasia with retinitis pigmentosa.
DR   MIM; 250410; phenotype.
DR   MedGen; C1855188.
DR   MeSH; D010009.
DR   MeSH; D012174.
KW   KW-0242:Dwarfism.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0991:Intellectual disability.
//
ID   Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness.
AC   DI-00997
AR   RPSRDF.
DE   A disease characterized by the association of retinitis pigmentosa
DE   with recurrent upper and lower airway infections. Some patients also
DE   develop progressive hearing loss.
SY   Retinitis pigmentosa and sinorespiratory infections with or without deafness.
SY   RPDSI.
SY   X-linked retinitis pigmentosa with deafness and sinorespiratory infections.
DR   MIM; 300455; phenotype.
DR   MedGen; C2749137.
DR   MeSH; D002925.
KW   KW-1186:Ciliopathy.
//
ID   Retinitis punctata albescens.
AC   DI-01639
AR   RPA.
DE   A form of fleck retina disease characterized by aggregation of white
DE   flecks posteriorly in the retina, causing night blindness and delayed
DE   dark adaptation. It differs from fundus albipunctatus in being
DE   progressive and evolving to generalized atrophy of the retina.
DR   MIM; 136880; phenotype.
DR   MedGen; C1405854.
DR   MeSH; D012164.
//
ID   Retinoschisis juvenile X-linked 1.
AC   DI-02450
AR   XLRS1.
DE   A vitreo-retinal dystrophy characterized by macular pathology and by
DE   splitting of the superficial layer of the retina. Macular changes are
DE   present in almost all cases. In the fundi, radially oriented
DE   intraretinal foveomacular cysts are seen in a spoke-wheel
DE   configuration, with the absence of foveal reflex in most cases. In
DE   addition, approximately half of cases have bilateral peripheral
DE   retinoschisis in the inferotemporal part of the retina. Aside from the
DE   typical fundus appearance, strabismus, nystagmus, axial hyperopia,
DE   defective color vision and foveal ectopy can be present. The most
DE   important complications are vitreous hemorrhage, retinal detachment,
DE   and neovascular glaucoma.
SY   RS1.
DR   MIM; 312700; phenotype.
DR   MedGen; C0271091.
DR   MedGen; C3714753.
DR   MeSH; D041441.
//
ID   Rett syndrome.
AC   DI-00999
AR   RTT.
DE   An X-linked dominant neurodevelopmental disorder, and one of the most
DE   common causes of intellectual disability in females. Patients appear
DE   to develop normally until 6 to 18 months of age, then gradually lose
DE   speech and purposeful hand movements, and develop microcephaly,
DE   seizures, autism, ataxia, intellectual disability and stereotypic hand
DE   movements. After initial regression, the condition stabilizes and
DE   patients usually survive into adulthood.
SY   Autism-dementia-ataxia-loss of purposeful hand use.
SY   Rett disorder.
SY   Rett syndrome preserved speech variant.
SY   Rett syndrome Zappella variant.
SY   RTS.
DR   MIM; 312750; phenotype.
DR   MedGen; C0035372.
DR   MedGen; C1839332.
DR   MedGen; C2677682.
DR   MedGen; C2748910.
DR   MeSH; D015518.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Rett syndrome congenital variant.
AC   DI-02790
AR   RTTCV.
DE   A severe neurodevelopmental disorder with features of classic Rett
DE   syndrome but earlier onset in the first months of life. Clinical
DE   features include progressive microcephaly, hypotonia, irresponsiveness
DE   and irritability in the neonatal period, intellectual disability,
DE   psychomotor regression and stereotypical movements.
DR   MIM; 613454; phenotype.
DR   MedGen; C3150705.
DR   MeSH; D015518.
KW   KW-0991:Intellectual disability.
//
ID   Reynolds syndrome.
AC   DI-02850
AR   REYNS.
DE   A syndrome specifically associating limited cutaneous systemic
DE   sclerosis and primary biliary cirrhosis. It is characterized by liver
DE   disease, telangiectasia, abrupt onset of digital paleness or cyanosis
DE   in response to cold exposure or stress (Raynaud phenomenon), and
DE   variable features of scleroderma. The liver disease is characterized
DE   by pruritis, jaundice, hepatomegaly, increased serum alkaline
DE   phosphatase and positive serum mitochondrial autoantibodies, all
DE   consistent with primary biliary cirrhosis.
SY   Primary biliary cirrhosis scleroderma Raynaud disease and telangiectasia.
DR   MIM; 613471; phenotype.
DR   MedGen; C0748397.
DR   MeSH; D008105.
DR   MeSH; D045745.
//
ID   Rh-null, amorph type.
AC   DI-05246
AR   RHNA.
DE   An autosomal recessive condition characterized by red blood cells that
DE   lack all Rh antigens, have increased osmotic fragility, diminished
DE   lifespan, and show changes in morphology resulting in stomatocytosis.
DE   Rh-null individuals have mild to moderate hemolytic anemia. They are
DE   at risk of having adverse reactions in response to transfusion or
DE   pregnancy, because they may produce antibodies against several of the
DE   Rh antigens.
SY   Rh-null disease, amorph type.
SY   Rh-null syndrome, amorph type.
DR   MIM; 617970; phenotype.
DR   MedGen; CN244925.
DR   MeSH; D004899.
DR   MeSH; D012204.
//
ID   Rhabdoid tumor predisposition syndrome 1.
AC   DI-02266
AR   RTPS1.
DE   A familial cancer syndrome predisposing to renal or extrarenal
DE   malignant rhabdoid tumors and to a variety of tumors of the central
DE   nervous system, including choroid plexus carcinoma, medulloblastoma,
DE   and central primitive neuroectodermal tumors. Rhabdoid tumors are the
DE   most aggressive and lethal malignancies occurring in early childhood.
SY   Atypical teratoid tumor.
SY   Malignant rhabdoid tumor somatic.
SY   MRT.
SY   RDT.
SY   Rhabdoid tumor.
DR   MIM; 609322; phenotype.
DR   MedGen; C0206743.
DR   MedGen; C1266184.
DR   MedGen; C1836326.
DR   MedGen; C1836327.
DR   MedGen; C2750405.
DR   MeSH; D018335.
//
ID   Rhabdoid tumor predisposition syndrome 2.
AC   DI-02895
AR   RTPS2.
DE   A familial cancer syndrome predisposing to renal or extrarenal
DE   malignant rhabdoid tumors and to a variety of tumors of the central
DE   nervous system, including choroid plexus carcinoma, medulloblastoma,
DE   and central primitive neuroectodermal tumors. Rhabdoid tumors are the
DE   most aggressive and lethal malignancies occurring in early childhood.
DR   MIM; 613325; phenotype.
DR   MedGen; C2750074.
DR   MeSH; D018335.
//
ID   Rhabdomyolysis 1.
AC   DI-06601
AR   RHABDO1.
DE   An autosomal recessive disorder characterized by severe and recurrent
DE   rhabdomyolysis, usually with onset in the teenage years. Some of the
DE   episodes may be triggered by exercise or heat; others occur
DE   spontaneously. Rhabdomyolysis is the rapid breakdown of damaged or
DE   injured skeletal myofibres and may require intensive care management.
DE   Muscle breakdown results in release of myofibrillar content into the
DE   extracellular space and circulation, resulting in hyperCKemia
DE   (hyperCK) and myoglobinuria. RHABDO1 patients may have a history of
DE   myalgia and muscle cramps that precede the initial rhabdomyolysis
DE   episodes.
DR   MIM; 620235; phenotype.
DR   MedGen; CN323202.
DR   MeSH; D012206.
//
ID   Rhabdomyosarcoma 2.
AC   DI-02699
AR   RMS2.
DE   A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE   muscle derived from primitive mesenchymal cells and exhibiting
DE   differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE   of the most frequently occurring soft tissue sarcomas and the most
DE   common in children. It occurs in four forms: alveolar, pleomorphic,
DE   embryonal and botryoidal rhabdomyosarcomas.
SY   Rhabdomyosarcoma alveolar.
SY   RMSA.
DR   MIM; 268220; phenotype.
DR   MedGen; C0206655.
DR   MeSH; D018232.
//
ID   Rhabdomyosarcoma, embryonal, 1.
AC   DI-02267
AR   RMSE1.
DE   A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE   muscle derived from primitive mesenchymal cells and exhibiting
DE   differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE   of the most frequently occurring soft tissue sarcomas and the most
DE   common in children. It occurs in four forms: alveolar, pleomorphic,
DE   embryonal and botryoidal rhabdomyosarcomas.
SY   Rhabdomyosarcoma 1.
SY   RMS1.
DR   MIM; 268210; phenotype.
DR   MedGen; C1849385.
DR   MeSH; D018233.
//
ID   Rhabdomyosarcoma, embryonal, 2.
AC   DI-03929
AR   RMSE2.
DE   A form of rhabdomyosarcoma, a highly malignant tumor of striated
DE   muscle derived from primitive mesenchymal cells and exhibiting
DE   differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one
DE   of the most frequently occurring soft tissue sarcomas and the most
DE   common in children. It occurs in four forms: alveolar, pleomorphic,
DE   embryonal and botryoidal rhabdomyosarcomas.
DR   MIM; 180295; phenotype.
DR   MedGen; C1867234.
DR   MeSH; D018233.
//
ID   Rhegmatogenous retinal detachment autosomal dominant.
AC   DI-01000
AR   DRRD.
DE   A eye disease that most frequently results from a break or tear in the
DE   retina that allows fluid from the vitreous humor to enter the
DE   potential space beneath the retina. It is often associated with
DE   pathologic myopia and in most cases leads to visual impairment or
DE   blindness if untreated.
DR   MIM; 609508; phenotype.
DR   MedGen; C1836081.
DR   MeSH; D012163.
//
ID   Rheumatoid arthritis.
AC   DI-02692
AR   RA.
DE   An inflammatory disease with autoimmune features and a complex genetic
DE   component. It primarily affects the joints and is characterized by
DE   inflammatory changes in the synovial membranes and articular
DE   structures, widespread fibrinoid degeneration of the collagen fibers
DE   in mesenchymal tissues, and by atrophy and rarefaction of bony
DE   structures.
DR   MIM; 180300; phenotype.
DR   MedGen; C0003873.
DR   MeSH; D001172.
//
ID   Rheumatoid arthritis systemic juvenile.
AC   DI-02819
AR   RASJ.
DE   An inflammatory articular disorder with systemic onset beginning
DE   before the age of 16. It represents a subgroup of juvenile arthritis
DE   associated with severe extraarticular features and occasionally fatal
DE   complications. During active phases of the disorder, patients display
DE   a typical daily spiking fever, an evanescent macular rash,
DE   lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis.
SY   Juvenile-onset Still disease.
DR   MIM; 604302; phenotype.
DR   MedGen; C1858558.
DR   MeSH; D001171.
//
ID   Rhizomelic chondrodysplasia punctata 1.
AC   DI-01001
AR   RCDP1.
DE   A peroxisome biogenesis disorder. It is characterized by severely
DE   disturbed endochondral bone formation, rhizomelic shortening of femur
DE   and humerus, vertebral disorders, dwarfism, cataract, cutaneous
DE   lesions, facial dysmorphism, and severe intellectual disability with
DE   spasticity.
SY   CDPR.
SY   Chondrodysplasia punctata, rhizomelic form.
SY   Chondrodystrophia calcificans punctata.
SY   PBD9.
SY   Peroxisome biogenesis disorder 9.
SY   Rhizomelic chondrodysplasia punctata, type 1.
DR   MIM; 215100; phenotype.
DR   MedGen; C1859133.
DR   MeSH; D018902.
KW   KW-0685:Rhizomelic chondrodysplasia punctata.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Rhizomelic chondrodysplasia punctata 2.
AC   DI-01002
AR   RCDP2.
DE   A form of rhizomelic chondrodysplasia punctata, a disease
DE   characterized by severely disturbed endochondral bone formation,
DE   rhizomelic shortening of femur and humerus, vertebral disorders,
DE   dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE   intellectual disability with spasticity.
SY   Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency.
SY   DHAPAT deficiency.
SY   Dihydroxyacetonephosphate acyltransferase deficiency.
SY   Glyceronephosphate O-acyltransferase deficiency.
SY   GNPAT deficiency.
SY   Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency.
SY   Rhizomelic chondrodysplasia punctata, type 2.
DR   MIM; 222765; phenotype.
DR   MedGen; C1857242.
DR   MeSH; D018902.
KW   KW-0685:Rhizomelic chondrodysplasia punctata.
//
ID   Rhizomelic chondrodysplasia punctata 3.
AC   DI-01003
AR   RCDP3.
DE   A form of rhizomelic chondrodysplasia punctata, a disease
DE   characterized by severely disturbed endochondral bone formation,
DE   rhizomelic shortening of femur and humerus, vertebral disorders,
DE   dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE   intellectual disability with spasticity.
SY   AGPS deficiency.
SY   Alkyldihydroxyacetonephosphate synthase deficiency.
SY   Alkylglycerone-phosphate synthase deficiency.
SY   Rhizomelic chondrodysplasia punctata, type 3.
DR   MIM; 600121; phenotype.
DR   MedGen; C1838612.
DR   MeSH; D018902.
KW   KW-0685:Rhizomelic chondrodysplasia punctata.
//
ID   Rhizomelic chondrodysplasia punctata 5.
AC   DI-04602
AR   RCDP5.
DE   A form of rhizomelic chondrodysplasia punctata, a disease
DE   characterized by severely disturbed endochondral bone formation,
DE   rhizomelic shortening of femur and humerus, vertebral disorders,
DE   dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe
DE   intellectual disability with spasticity.
SY   Rhizomelic chondrodysplasia punctata, type 5.
DR   MIM; 616716; phenotype.
DR   MedGen; CN234653.
DR   MeSH; D018902.
KW   KW-0685:Rhizomelic chondrodysplasia punctata.
KW   KW-0958:Peroxisome biogenesis disorder.
//
ID   Rhizomelic dysplasia, Ain-Naz type.
AC   DI-06238
AR   RHZDAN.
DE   An autosomal recessive skeletal dysplasia characterized by short
DE   stature, marked rhizomelic shortening of the limbs, platyspondyly, hip
DE   dysplasia, and large hands and feet relative to height.
DR   MIM; 619598; phenotype.
DR   MedGen; CN301098.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Rhizomelic limb shortening with dysmorphic features.
AC   DI-05792
AR   RLSDF.
DE   An autosomal recessive skeletal dysplasia characterized by rhizomelic
DE   shortening of limbs as well as variable dysmorphic features, including
DE   macrocephaly, short neck, micrognathia, mild proptosis, downslanting
DE   palpebral fissures, depressed or broad nasal bridge and long philtrum.
DR   MIM; 618821; phenotype.
DR   MedGen; CN263374.
DR   MeSH; D010009.
//
ID   Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly.
AC   DI-05279
AR   SKPHA.
DE   A disease characterized by abnormal nuclear shape and chromatin
DE   organization in blood granulocytes, short stature, and mild skeletal
DE   anomalies. Initial skeletal features may improve with age.
SY   Pelger-Huet anomaly with mild skeletal anomalies.
SY   PHASK.
SY   Regressive spondylometaphyseal dysplasia.
DR   MIM; 618019; phenotype.
DR   MedGen; CN248525.
DR   MeSH; D010009.
DR   MeSH; D010381.
KW   KW-0242:Dwarfism.
//
ID   RHYNS syndrome.
AC   DI-05440
AR   RHYNS.
DE   An autosomal recessive syndrome characterized by gaze palsy, retinitis
DE   pigmentosa, sensorineural hearing loss, hypopituitarism,
DE   nephronophthisis, and skeletal dysplasia.
DR   MIM; 602152; phenotype.
DR   MedGen; C1865794.
DR   MeSH; D000072661.
DR   MeSH; D007018.
KW   KW-0209:Deafness.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0983:Nephronophthisis.
KW   KW-1186:Ciliopathy.
//
ID   Riboflavin deficiency.
AC   DI-03674
AR   RBFVD.
DE   A disorder caused by a primary defect in riboflavin metabolism, or by
DE   dietary riboflavin deficiency. Riboflavin deficiency during pregnancy
DE   results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and
DE   elevated plasma acylcarnitine levels in the newborn. Treatment with
DE   oral riboflavin results in complete resolution of the clinical and
DE   biochemical findings.
SY   Riboflavin transporter deficiency, type 1.
SY   RTD1.
DR   MIM; 615026; phenotype.
DR   MedGen; C0035528.
DR   MeSH; D012257.
//
ID   Ribose 5-phosphate isomerase deficiency.
AC   DI-02268
AR   RPIAD.
DE   An autosomal recessive inborn error of polyols metabolism
DE   characterized by highly elevated level of ribitol and arabitol in
DE   brain and body fluids. Clinical features include leukoencephalopathy,
DE   psychomotor retardation from early life, neurologic regression, and a
DE   mild sensorimotor neuropathy.
DR   MIM; 608611; phenotype.
DR   MedGen; C1291609.
DR   MeSH; D002239.
KW   KW-0622:Neuropathy.
//
ID   Richieri-Costa-Pereira syndrome.
AC   DI-04063
AR   RCPS.
DE   A syndrome characterized by a unique pattern of anomalies consisting
DE   of microstomia, micrognathia, abnormal fusion of mandible, cleft
DE   palate/Robin sequence, absence of central lower incisors, minor ears
DE   anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic
DE   halluces, and clubfeet. Learning disability is also a common finding.
SY   Richieri-Costa and Pereira syndrome.
SY   Robin sequence with cleft mandible and limb anomalies.
DR   MIM; 268305; phenotype.
DR   MedGen; C1849348.
DR   MeSH; D003025.
DR   MeSH; D006228.
DR   MeSH; D010855.
//
ID   Rickets vitamin D-dependent 1A.
AC   DI-02414
AR   VDDR1A.
DE   A disorder caused by a selective deficiency of the active form of
DE   vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone
DE   mineralization and clinical features of rickets.
SY   1-alpha 25-hydroxyvitamin D3 deficiency selective.
SY   1-alpha-hydroxylase deficiency.
SY   25-hydroxycholecalciferol-1-hydroxylase deficiency.
SY   PDDR.
SY   PDDR1A.
SY   PDDR IA.
SY   Pseudovitamin D deficiency rickets.
SY   Pseudovitamin D-deficiency rickets type IA.
SY   VDD1.
SY   Vitamin D dependency type 1.
DR   MIM; 264700; phenotype.
DR   MedGen; C0268689.
DR   MeSH; D012279.
//
ID   Rickets vitamin D-dependent 1B.
AC   DI-00008
AR   VDDR1B.
DE   An autosomal recessive disorder caused by a selective deficiency of
DE   the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting
DE   in defective bone mineralization and clinical features of rickets. The
DE   patients sera have low calcium concentrations, low phosphate
DE   concentrations, elevated alkaline phosphatase activity and low levels
DE   of 25-hydroxyvitamin D.
SY   25-hydroxyvitamimn D3 deficiency selective.
SY   25-hydroxyvitamin D(3) deficiency.
SY   Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency.
SY   Selective 25-hydroxyvitamin D(3) deficiency.
DR   MIM; 600081; phenotype.
DR   MedGen; C1838657.
DR   MeSH; D012279.
//
ID   Rickets vitamin D-dependent 2A.
AC   DI-02398
AR   VDDR2A.
DE   A disorder of vitamin D metabolism resulting in severe rickets,
DE   hypocalcemia and secondary hyperparathyroidism. Most patients have
DE   total alopecia in addition to rickets.
SY   Generalized resistance to 1,25-dihydroxyvitamin D.
SY   HVDRR.
SY   Hypocalcemic vitamin D-resistant rickets.
SY   PDDR IIA.
SY   Pseudovitamin D-deficiency type IIA.
SY   Rickets-alopecia syndrome.
SY   Rickets hereditary vitamin D-resistant.
SY   Type IIA rickets.
SY   Vitamin D-dependent rickets type 2A with or without alopecia.
SY   Vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol.
DR   MIM; 277440; phenotype.
DR   MedGen; C0268690.
DR   MedGen; C0342646.
DR   MedGen; C0342647.
DR   MeSH; D012279.
//
ID   Riddle syndrome.
AC   DI-02269
AR   RIDL.
DE   An autosomal recessive disorder characterized by increased
DE   radiosensitivity, immunodeficiency, mild motor control and learning
DE   difficulties, facial dysmorphism, and short stature.
SY   Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties.
DR   MIM; 611943; phenotype.
DR   MedGen; C2677792.
DR   MeSH; D000081207.
DR   MeSH; D007859.
DR   MeSH; D019465.
//
ID   Right atrial isomerism.
AC   DI-03896
AR   RAI.
DE   A severe complex congenital heart defect resulting from embryonic
DE   disruption of proper left-right axis determination. RAI is usually
DE   characterized by complete atrioventricular septal defect with a common
DE   atrium and univentricular AV connection, total anomalous pulmonary
DE   drainage, and transposition or malposition of the great arteries.
DE   Affected individuals present at birth with severe cardiac failure.
DE   Other associated abnormalities include bilateral trilobed lungs,
DE   midline liver, and asplenia, as well as situs inversus affecting other
DE   organs.
SY   Asplenia with cardiovascular anomalies.
SY   Heterotaxy, visceroatrial, autosomal recessive.
SY   Ivemark syndrome.
SY   Polyasplenia.
SY   VAH, autosomal recessive.
DR   MIM; 208530; phenotype.
DR   MedGen; C0175707.
DR   MedGen; C0265357.
DR   MedGen; C1876171.
DR   MedGen; C1876172.
DR   MedGen; C1876173.
DR   MeSH; D059446.
//
ID   Rigidity and multifocal seizure syndrome, lethal neonatal.
AC   DI-03404
AR   RMFSL.
DE   A lethal, neonatal, neurologic disorder characterized by episodic
DE   jerking that is apparent in utero, lack of psychomotor development,
DE   axial and limb rigidity, frequent multifocal seizures, and
DE   dysautonomia. At birth, affected individuals have small heads,
DE   overlapping cranial sutures, small or absent fontanels, and depressed
DE   frontal bones. Infants show poorly responsive focal jerks of the
DE   tongue, face and arms in a nearly continuous sequence throughout life.
DR   MIM; 614498; phenotype.
DR   MedGen; C3281029.
DR   MeSH; D009127.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
//
ID   Ring dermoid of cornea.
AC   DI-02729
AR   RDC.
DE   An ocular disorder characterized by bilateral annular limbal dermoids
DE   (growths with a skin-like structure) with corneal and conjunctival
DE   extension.
DR   MIM; 180550; phenotype.
DR   MedGen; C1867155.
DR   MeSH; D003884.
//
ID   Rippling muscle disease 2.
AC   DI-02270
AR   RMD2.
DE   A disorder characterized by mechanically triggered contractions of
DE   skeletal muscle. Mechanical stimulation leads to electrically silent
DE   muscle contractions that spread to neighboring fibers and cause
DE   visible ripples to move over the muscle. RMD2 inheritance is autosomal
DE   dominant or autosomal recessive.
SY   LGMD1C.
SY   Limb-girdle muscular dystrophy 1C.
SY   Muscular dystrophy, limb-girdle, type 1C.
DR   MIM; 606072; phenotype.
DR   MedGen; C1832560.
DR   MedGen; C1853698.
DR   MeSH; D009135.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Ritscher-Schinzel syndrome 1.
AC   DI-04011
AR   RTSC1.
DE   A developmental malformation syndrome characterized by craniofacial
DE   abnormalities, congenital heart defects, and cerebellar brain
DE   malformations. Facial features include prominent occiput, prominent
DE   forehead, low-set ears, downslanting palpebral fissures, depressed
DE   nasal bridge, and micrognathia. Cardiac defects can include septal
DE   defects and aortic stenosis, among others, and brain imaging shows
DE   Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior
DE   fossa cysts, and ventricular dilatation. Affected individuals have
DE   severe developmental delay.
SY   3C syndrome.
SY   Craniocerebellocardiac dysplasia.
SY   Dandy-Walker-like malformation with atrioventricular septal defect.
DR   MIM; 220210; phenotype.
DR   MedGen; C0796137.
DR   MeSH; D003616.
DR   MeSH; D006344.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Ritscher-Schinzel syndrome 2.
AC   DI-04573
AR   RTSC2.
DE   A form of Ritscher-Schinzel syndrome, a developmental malformation
DE   syndrome characterized by cerebellar brain malformations, congenital
DE   heart defects, and craniofacial abnormalities. RTSC2 is an X-linked
DE   recessive form characterized by intellectual disability associated
DE   with posterior fossa defects, cardiac malformations, and minor
DE   abnormalities of the face and distal extremities.
DR   MIM; 300963; phenotype.
DR   MedGen; CN233320.
DR   MeSH; D003616.
DR   MeSH; D006344.
DR   MeSH; D019465.
KW   KW-0991:Intellectual disability.
//
ID   Ritscher-Schinzel syndrome 3.
AC   DI-05996
AR   RTSC3.
DE   A form of Ritscher-Schinzel syndrome, a developmental malformation
DE   syndrome characterized by cerebellar brain malformations, congenital
DE   heart defects, and craniofacial abnormalities. RTSC3 is an autosomal
DE   recessive form. Affected individuals show cranio-cerebello-cardiac
DE   anomalies, coloboma, microphthalmia, chondrodysplasia punctata,
DE   complicated skeletal malformations, periventricular nodular
DE   heterotopia and proteinuria.
DR   MIM; 619135; phenotype.
DR   MedGen; CN293598.
DR   MeSH; D003616.
DR   MeSH; D006344.
DR   MeSH; D019465.
//
ID   Ritscher-Schinzel syndrome 4.
AC   DI-06167
AR   RTSC4.
DE   An autosomal dominant form of Ritscher-Schinzel syndrome, a
DE   developmental malformation syndrome characterized by cerebellar brain
DE   anomalies associated with global developmental delay and impaired
DE   intellectual development, congenital heart defects, and craniofacial
DE   abnormalities.
DR   MIM; 619435; phenotype.
DR   MedGen; CN300065.
DR   MeSH; D003616.
DR   MeSH; D006344.
DR   MeSH; D019465.
//
ID   Roberts-SC phocomelia syndrome.
AC   DI-02272
AR   RBS.
DE   An autosomal recessive disorder characterized by pre- and postnatal
DE   growth retardation, intellectual disability, microcephaly, bilateral
DE   cleft lip and cleft palate, and mesomelic symmetric limb reduction.
DE   Severely affected infants may be stillborn or die shortly after birth.
DE   Patient chromosomes have a lack of cohesion involving heterochromatic
DE   C-banding regions around centromeres and the heterochromatin regions
DE   on the 1, 9, 16, and Y chromosomes. These findings are referred to as
DE   premature centromere separation (PCS) and heterochromatin repulsion
DE   (HR), and they are important for the diagnosis of the syndrome.
SY   Long bone deficiencies associated with cleft lip-palate.
SY   Roberts syndrome.
SY   SC phocomelia syndrome.
SY   SC pseudothalidomide syndrome.
DR   MIM; 268300; phenotype.
DR   MedGen; C0392475.
DR   MeSH; D004480.
DR   MeSH; D008607.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Robinow syndrome, autosomal dominant 1.
AC   DI-03227
AR   DRS1.
DE   A disease characterized by short-limb dwarfism, costovertebral
DE   segmentation defects and abnormalities of the head, face and external
DE   genitalia. The clinical signs are generally milder in dominant cases.
SY   Acral dysostosis with facial and genital abnormalities.
SY   Fetal face syndrome.
SY   Robinow dwarfism.
DR   MIM; 180700; phenotype.
DR   MedGen; C0265205.
DR   MeSH; D004392.
DR   MeSH; D014564.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Robinow syndrome, autosomal dominant 2.
AC   DI-04392
AR   DRS2.
DE   A rare skeletal dysplasia syndrome characterized by dysmorphic
DE   features resembling a fetal face, mesomelic limb shortening,
DE   hypoplastic external genitalia in males, costovertebral segmentation
DE   defects, and renal anomalies.
DR   MIM; 616331; phenotype.
DR   MedGen; CN229715.
DR   MeSH; D004392.
DR   MeSH; D014564.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Robinow syndrome, autosomal dominant 3.
AC   DI-04701
AR   DRS3.
DE   A form of Robinow syndrome, a rare skeletal dysplasia syndrome
DE   characterized by dysmorphic features resembling a fetal face,
DE   mesomelic limb shortening, genital hypoplasia, renal anomalies, and
DE   costovertebral segmentation defects.
DR   MIM; 616894; phenotype.
DR   MedGen; CN235904.
DR   MeSH; D004392.
DR   MeSH; D014564.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Robinow syndrome, autosomal recessive 1.
AC   DI-02247
AR   RRS1.
DE   A recessive form of Robinow syndrome, a disease characterized by
DE   short-limb dwarfism, costovertebral segmentation defects and
DE   abnormalities of the head, face and external genitalia. The clinical
DE   signs are generally far more severe in recessive cases, particularly
DE   skeletal abnormalities. All patients with the recessive form suffer
DE   from vertebral segmentation abnormalities, resulting in scoliosis and
DE   chest deformities. Rib fusions are considered to be characteristic of
DE   the autosomal recessive form. Patients can also present brachydactyly,
DE   with extensive aplasia/hypoplasia of the phalanges and
DE   metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and
DE   oligodactyly of the feet.
SY   Costovertebral segmentation defect with mesomelia.
SY   COVESDEM syndrome.
SY   Robinow syndrome autosomal recessive with aplasia/hypoplasia of phalanges and metacarpals/metatarsals.
SY   Robinow syndrome autosomal recessive with brachy-syn-polydactyly.
DR   MIM; 268310; phenotype.
DR   MedGen; C1849334.
DR   MedGen; C3151609.
DR   MedGen; C3151610.
DR   MeSH; D004392.
DR   MeSH; D014564.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Robinow syndrome, autosomal recessive 2.
AC   DI-05633
AR   RRS2.
DE   A recessive form of Robinow syndrome, a disease characterized by
DE   short-limb dwarfism, costovertebral segmentation defects and
DE   abnormalities of the head, face and external genitalia. The clinical
DE   signs are generally far more severe in recessive cases, particularly
DE   skeletal abnormalities. All patients with the recessive form suffer
DE   from vertebral segmentation abnormalities, resulting in scoliosis and
DE   chest deformities. Rib fusions are considered to be characteristic of
DE   the autosomal recessive form. Patients can also present brachydactyly,
DE   with extensive aplasia/hypoplasia of the phalanges and
DE   metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and
DE   oligodactyly of the feet.
DR   MIM; 618529; phenotype.
DR   MedGen; CN262179.
DR   MeSH; D004392.
DR   MeSH; D014564.
DR   MeSH; D017880.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Robinow-Sorauf syndrome.
AC   DI-01004
AR   RSS.
DE   An autosomal dominant syndrome characterized by craniosynostosis,
DE   asymmetry of orbits, flat face, hypertelorism, a thin, long, and
DE   pointed nose, shallow orbits, strabismus, and broad great toes with a
DE   duplication of the distal phalanx. RSS is clinically similar to
DE   Saethre-Chotzen syndrome, with the most characteristic additional
DE   feature in Robinow-Sorauf syndrome being a bifid or partially
DE   duplicated hallux.
SY   Acrocephalosyndactyly Robinow-Sorauf type.
SY   Craniosynostosis-bifid hallux syndrome.
DR   MIM; 180750; phenotype.
DR   MedGen; C1867146.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Rod-cone dystrophy Newfoundland.
AC   DI-01005
AR   NFRCD.
DE   A rod-cone dystrophy reminiscent of retinitis punctata albescens but
DE   with a substantially lower age at onset and more-rapid and distinctive
DE   progression. Rod-cone dystrophies results from initial loss of rod
DE   photoreceptors, later followed by cone photoreceptors loss.
DR   MIM; 607476; phenotype.
DR   MedGen; C1843815.
DR   MeSH; D012174.
//
ID   Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction.
AC   DI-06374
AR   RCDFRD.
DE   An autosomal recessive disease characterized by visual impairment due
DE   to rod-cone dystrophy, sensorineural hearing loss, and Fanconi-type
DE   renal dysfunction resulting in rickets-like skeletal changes. Death
DE   may occur in childhood or young adulthood due to renal failure.
DE   Disease onset is before age 5 years.
DR   MIM; 268315; phenotype.
DR   MedGen; C1849333.
DR   MeSH; D006319.
DR   MeSH; D015499.
DR   MeSH; D058499.
KW   KW-0209:Deafness.
//
ID   Roifman-Chitayat syndrome.
AC   DI-06090
AR   ROCHIS.
DE   An autosomal recessive digenic disorder characterized by global
DE   developmental delay, variable neurologic features such as seizures and
DE   ataxia, optic atrophy, dysmorphic facial features, distal skeletal
DE   anomalies, and recurrent invasive infections due to combined
DE   immunodeficiency.
SY   Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay.
DR   MIM; 613328; phenotype.
DR   MedGen; C2750068.
DR   MeSH; D001847.
DR   MeSH; D007153.
DR   MeSH; D009422.
//
ID   Rokitansky-Kuster-Hauser syndrome.
AC   DI-02273
AR   RKH syndrome.
DE   Characterized by utero-vaginal atresia in otherwise phenotypically
DE   normal female with a normal 46,XX karyotype. Anomalies of the genital
DE   tract range from upper vaginal atresia to total Muellerian agenesis
DE   with urinary tract abnormalities. It has an incidence of approximately
DE   1 in 5'000 newborn girls.
SY   Mayer-Rokitansky-Kuster-Hauser syndrome.
SY   MRKH anomaly.
SY   MRKH syndrome.
DR   MIM; 277000; phenotype.
DR   MedGen; C1698581.
//
ID   Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked.
AC   DI-02456
AR   RESDX.
DE   A condition characterized by the association of rolandic seizures with
DE   oral and speech dyspraxia, and intellectual disability. Rolandic
DE   seizures occur during a period of significant brain maturation. During
DE   this time, dysfunction of neural network activities such as focal
DE   discharges may be associated with specific developmental disabilities
DE   resulting in specific cognitive impairments of language, visuo-spatial
DE   abilities or attention.
DR   MIM; 300643; phenotype.
DR   MedGen; C1845070.
DR   MeSH; D001072.
DR   MeSH; D008607.
DR   MeSH; D019305.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Rothmund-Thomson syndrome 1.
AC   DI-05679
AR   RTS1.
DE   An autosomal recessive disorder characterized by sparse hair,
DE   bilateral juvenile cataracts, and poikiloderma, a genodermatosis
DE   presenting with mottled pigmentation, telangiectasia and epidermal
DE   atrophy. Additional features are short stature, dystrophic and thin
DE   nails, and genital, skeletal and dental abnormalities. RTS1 is not
DE   associated with an increased risk of cancer.
SY   Poikiloderma atrophicans and cataract.
SY   Rothmund-Thomson syndrome, type 1.
DR   MIM; 618625; phenotype.
DR   MedGen; C5231433.
DR   MeSH; D011038.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1063:Hypotrichosis.
//
ID   Rothmund-Thomson syndrome 2.
AC   DI-02274
AR   RTS2.
DE   An autosomal recessive disorder characterized by dermatological
DE   features such as skin atrophy, pigmentation abnormalities, and
DE   telangiectasia. It is frequently accompanied by juvenile cataract,
DE   saddle nose, congenital bone defects, disturbances of hair growth,
DE   hypogonadism, and an increased risk of osteosarcoma in childhood and
DE   skin cancer later in life.
DR   MIM; 268400; phenotype.
DR   MedGen; C5203410.
DR   MeSH; D011038.
//
ID   Roussy-Levy syndrome.
AC   DI-02275
AR   ROULS.
DE   Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease
DE   type 1 in that it presents with foot deformity, weakness and atrophy
DE   of distal limb muscles, especially the peronei, and absent tendon
DE   reflexes. The phenotype differs, however, in that it includes static
DE   tremor of the upper limbs and gait ataxia.
SY   Roussy-Levy hereditary areflexic dystasia.
DR   MIM; 180800; phenotype.
DR   MedGen; C0205713.
//
ID   Rubinstein-Taybi syndrome 1.
AC   DI-02730
AR   RSTS1.
DE   A disorder characterized by craniofacial abnormalities, postnatal
DE   growth deficiency, broad thumbs, broad big toes, intellectual
DE   disability and a propensity for development of malignancies.
SY   Broad thumb-hallux syndrome.
SY   RSTS.
SY   Rubinstein syndrome.
DR   MIM; 180849; phenotype.
DR   MedGen; C0035934.
DR   MeSH; D012415.
//
ID   Rubinstein-Taybi syndrome 2.
AC   DI-02976
AR   RSTS2.
DE   A disorder characterized by craniofacial abnormalities, postnatal
DE   growth deficiency, broad thumbs, broad big toes, intellectual
DE   disability and a propensity for development of malignancies. Some
DE   individuals with RSTS2 have less severe mental impairment, more severe
DE   microcephaly, and a greater degree of changes in facial bone structure
DE   than RSTS1 patients.
DR   MIM; 613684; phenotype.
DR   MedGen; C3150941.
DR   MeSH; D012415.
//
ID   Ruijs-Aalfs syndrome.
AC   DI-04313
AR   RJALS.
DE   A syndrome characterized by genomic instability, progeroid features,
DE   and susceptibility toward early onset hepatocellular carcinoma.
DR   MIM; 616200; phenotype.
DR   MedGen; CN225196.
DR   MeSH; D002277.
DR   MeSH; D049914.
//
ID   Sacral agenesis with vertebral anomalies.
AC   DI-04072
AR   SAVA.
DE   A disorder characterized by abnormalities of the spine, including
DE   sacral agenesis, abnormal ossification of all vertebral bodies, and a
DE   persistent notochordal canal during development.
DR   MIM; 615709; phenotype.
DR   MedGen; C3810343.
DR   MedGen; CN186032.
DR   MeSH; D013122.
//
ID   Sacral defect with anterior meningocele.
AC   DI-02277
AR   SDAM.
DE   Form of caudal dysgenesis. It is present at birth and becomes
DE   symptomatic later in life, usually because of obstructive labor in
DE   females, chronic constipation, or meningitis. Inheritance is autosomal
DE   dominant.
DR   MIM; 600145; phenotype.
DR   MedGen; C0037205.
DR   MedGen; C0300948.
DR   MedGen; C0344490.
DR   MedGen; C1838568.
DR   MedGen; C1838569.
//
ID   Saethre-Chotzen syndrome.
AC   DI-01006
AR   SCS.
DE   A craniosynostosis syndrome characterized by coronal synostosis,
DE   brachycephaly, low frontal hairline, facial asymmetry, hypertelorism,
DE   broad halluces, and clinodactyly.
SY   Acrocephalosyndactyly type 3.
SY   ACS3.
SY   ACS III.
DR   MIM; 101400; phenotype.
DR   MedGen; C0175699.
DR   MedGen; C1863370.
DR   MedGen; C1863371.
DR   MeSH; D000168.
KW   KW-0989:Craniosynostosis.
//
ID   Salla disease.
AC   DI-02278
AR   SD.
DE   Sialic acid storage disease (SASD). SASDs are autosomal recessive
DE   neurodegenerative disorders characterized by hypotonia, cerebellar
DE   ataxia and intellectual disability. They are caused by a defect in the
DE   metabolism of sialic acid which results in increased urinary excretion
DE   of unconjugated sialic acid, specifically N-acetylneuraminic acid.
DE   Enlarged lysosomes are seen on electron microscopic studies. Clinical
DE   symptoms of SD present usually at age less than 1 year and progression
DE   is slow.
SY   Finnish type sialuria.
DR   MIM; 604369; phenotype.
DR   MedGen; C1096903.
//
ID   Salt and pepper developmental regression syndrome.
AC   DI-00096
AR   SPDRS.
DE   A rare autosomal recessive disorder characterized by infantile onset
DE   of severe, recurrent and refractory seizures, failure to thrive,
DE   psychomotor delay, developmental stagnation, and cortical blindness.
DE   Deafness is observed in some patients. Affected individuals have
DE   patches of skin hypo- or hyperpigmentation on the trunk, face, and
DE   extremities.
SY   AIES.
SY   Amish infantile epilepsy syndrome.
SY   Epilepsy syndrome infantile-onset symptomatic.
SY   GM3 synthase deficiency.
DR   MIM; 609056; phenotype.
DR   MedGen; C1836824.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Sandestig-Stefanova syndrome.
AC   DI-05785
AR   SANDSTEF.
DE   An autosomal recessive syndrome characterized by pre- and postnatal
DE   microcephaly, trigonocephaly, congenital bilateral cataract,
DE   microphthalmia, cleft lip and palate or high-arched palate,
DE   camptodactyly, rocker-bottom feet, heart anomalies, specific brain
DE   changes such as loss of periventricular white matter, thin corpus
DE   callosum, and delayed myelinization.
DR   MIM; 618804; phenotype.
DR   MedGen; CN263352.
DR   MeSH; D000015.
KW   KW-0898:Cataract.
KW   KW-1013:Microphthalmia.
//
ID   Sarcoidosis 1.
AC   DI-02731
AR   SS1.
DE   An idiopathic, systemic, inflammatory disease characterized by the
DE   formation of immune granulomas in involved organs. Granulomas
DE   predominantly invade the lungs and the lymphatic system, but also
DE   skin, liver, spleen, eyes and other organs may be involved.
SY   Besnier-Boeck-Schaumann disease.
SY   Boeck sarcoid.
SY   Sarcoidosis.
DR   MIM; 181000; phenotype.
DR   MedGen; C2697310.
DR   MedGen; CN034668.
DR   MeSH; D012507.
//
ID   Sarcoidosis 2.
AC   DI-02732
AR   SS2.
DE   An idiopathic, systemic, inflammatory disease characterized by the
DE   formation of immune granulomas in involved organs. Granulomas
DE   predominantly invade the lungs and the lymphatic system, but also
DE   skin, liver, spleen, eyes and other organs may be involved.
SY   Besnier-Boeck-Schaumann disease.
SY   Boeck sarcoid.
SY   Sarcoidosis.
DR   MIM; 612387; phenotype.
DR   MedGen; C2676468.
DR   MeSH; D012507.
//
ID   Sarcosinemia.
AC   DI-02279
AR   SARCOS.
DE   A metabolic disorder characterized by an increased concentration of
DE   sarcosine in plasma and an increased excretion of sarcosine in urine.
DE   Sarcosinemia is most probably a benign condition without significant
DE   clinical problems. Some reports have associated sarcosinemia with
DE   intellectual disability and neurologic problems.
SY   Hypersarcosinemia.
SY   Sarcosine dehydrogenase complex deficiency.
SY   SARD deficiency.
SY   SARDHD.
SY   SARDH deficiency.
DR   MIM; 268900; phenotype.
DR   MedGen; C0268563.
DR   MeSH; D000592.
//
ID   Saul-Wilson syndrome.
AC   DI-05354
AR   SWILS.
DE   A rare skeletal dysplasia with characteristic dysmorphic and
DE   radiographic findings, as well as early developmental delay, primarily
DE   involving speech, with eventual normal cognition. Clinical findings
DE   include marked short stature, prominent forehead with an enlarged
DE   anterior fontanel, prominent eyes with cataracts, narrow nasal bridge
DE   with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and
DE   short distal phalanges of fingers. Radiographic changes include
DE   platyspondyly, irregular end plates of vertebral bodies, and
DE   hypoplasia of the odontoid process with cervical instability in the
DE   spine, coxa valga, overtubulation, metaphyseal flaring and
DE   megaepiphyses in the long bones, while the hands and feet exhibit
DE   short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of
DE   phalanges, and accessory ossification centers of metacarpals and
DE   metatarsals.
SY   Microcephalic osteodysplastic dysplasia.
DR   MIM; 618150; phenotype.
DR   MedGen; CN257733.
DR   MeSH; D004392.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Scalp-ear-nipple syndrome.
AC   DI-03827
AR   SENS.
DE   A disease characterized by aplasia cutis congenita of the scalp,
DE   breast anomalies that range from hypothelia or athelia to amastia, and
DE   minor anomalies of the external ears. Less frequent clinical
DE   characteristics include nail dystrophy, dental anomalies, cutaneous
DE   syndactyly of the digits, and renal malformations. Penetrance appears
DE   to be high, although there is substantial variable expressivity within
DE   families.
SY   Finlay-Marks syndrome.
SY   SEN syndrome.
DR   MIM; 181270; phenotype.
DR   MedGen; C1867020.
DR   MeSH; D000015.
//
ID   Scapuloperoneal myopathy, X-linked dominant.
AC   DI-02442
AR   SPM.
DE   A disease characterized by progressive muscle weakness and wasting,
DE   upper and lower limbs weakness, foot drop, scapular winging, and
DE   myopathic changes on muscle biopsy. Most affected individuals become
DE   wheelchair-bound.
SY   Scapuloperoneal myopathy FHL1-related.
DR   MIM; 300695; phenotype.
DR   MedGen; C2678061.
DR   MeSH; D020389.
//
ID   Scapuloperoneal spinal muscular atrophy.
AC   DI-02689
AR   SPSMA.
DE   A clinically variable neuromuscular disorder characterized by
DE   neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital
DE   absence of muscles, progressive scapuloperoneal atrophy and
DE   progressive distal weakness and amyotrophy.
SY   Amyotrophy neurogenic scapuloperoneal New England type.
DR   MIM; 181405; phenotype.
DR   MedGen; C0751335.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Schaaf-Yang syndrome.
AC   DI-03984
AR   SHFYNG.
DE   A disease characterized by clinical features of Prader-Willi syndrome,
DE   including neonatal hypotonia with poor suck, feeding problems in
DE   infancy, obesity, developmental delay, short stature, and
DE   hypogonadism. Additionally, patients manifest autism spectrum
DE   disorder. Some patients have dysmorphic facial features.
SY   Chitayat-Hall syndrome.
SY   Prader-Willi-like syndrome.
SY   PWLS.
DR   MIM; 615547; phenotype.
DR   MedGen; C3809877.
DR   MeSH; D000015.
KW   KW-0550:Obesity.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Schimke immuno-osseous dysplasia.
AC   DI-02282
AR   SIOD.
DE   An autosomal recessive pleiotropic disorder characterized by
DE   spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency.
DE   Arteriosclerosis may also occur in some case.
SY   Immunoosseous dysplasia, Schimke type.
SY   Schimke immunoosseous dysplasia.
DR   MIM; 242900; phenotype.
DR   MedGen; C0877024.
DR   MeSH; D007153.
DR   MeSH; D007674.
DR   MeSH; D010009.
//
ID   Schimmelpenning-Feuerstein-Mims syndrome.
AC   DI-03512
AR   SFM.
DE   A disease characterized by sebaceous nevi, often on the face,
DE   associated with variable ipsilateral abnormalities of the central
DE   nervous system, ocular anomalies, and skeletal defects. Many oral
DE   manifestations have been reported, not only including hypoplastic and
DE   malformed teeth, and mucosal papillomatosis, but also ankyloglossia,
DE   hemihyperplastic tongue, intraoral nevus, giant cell granuloma,
DE   ameloblastoma, bone cysts, follicular cysts, oligodontia, and
DE   odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these
DE   can continue as linear intraoral lesions, as in mucosal
DE   papillomatosis.
SY   Epidermal nevus syndrome.
SY   Jadassohn nevus phakomatosis.
SY   JNP.
SY   Linear sebaceous nevus syndrome.
SY   Nevus sebaceus of Jadassohn.
SY   Organoid nevus phakomatosis.
SY   Schimmelpenning syndrome.
SY   SFM syndrome.
SY   Solomon syndrome.
SY   SS.
DR   MIM; 163200; phenotype.
DR   MedGen; C0265318.
DR   MeSH; D054000.
//
ID   Schindler disease.
AC   DI-02283
AR   SCHIND.
DE   Form of NAGA deficiency characterized by early-onset neuroaxonal
DE   dystrophy and neurological signs (convulsion during fever, epilepsy,
DE   psychomotor retardation and hypotonia). NAGA deficiency is typically
DE   classified in three main phenotypes: NAGA deficiency type I (Schindler
DE   disease or Schindler disease type I) with severe manifestations; NAGA
DE   deficiency type II (Kanzazi disease or Schindler disease type II)
DE   which is mild; NAGA deficiency type III (Schindler disease type III)
DE   characterized by mild-to-moderate neurologic manifestations. NAGA
DE   deficiency results in the increased urinary excretion of glycopeptides
DE   and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties.
DE   Inheritance is autosomal recessive.
DR   MIM; 609241; phenotype.
DR   MedGen; C1836544.
DR   MedGen; C1836545.
DR   MedGen; C1836546.
DR   MedGen; C1836547.
//
ID   Schinzel-Giedion midface retraction syndrome.
AC   DI-02836
AR   SGMFS.
DE   A disorder characterized by severe intellectual disability,
DE   distinctive facial features, and multiple congenital malformations
DE   including skeletal abnormalities, genitourinary and renal
DE   malformations, cardiac defects, as well as a higher-than-normal
DE   prevalence of tumors, notably neuroepithelial neoplasia.
DR   MIM; 269150; phenotype.
DR   MedGen; C0265227.
DR   MedGen; C1849294.
DR   MeSH; D000015.
DR   MeSH; D008607.
//
ID   Schizencephaly.
AC   DI-02284
AR   SCHZC.
DE   Extremely rare human congenital disorder characterized by a full-
DE   thickness cleft within the cerebral hemispheres. These clefts are
DE   lined with gray matter and most commonly involve the parasylvian
DE   regions. Large portions of the cerebral hemispheres may be absent and
DE   replaced by cerebro-spinal fluid.
DR   MIM; 269160; phenotype.
DR   MedGen; C0266484.
//
ID   Schizophrenia.
AC   DI-03626
AR   SCZD.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia with or without an affective disorder.
DR   MIM; 181500; phenotype.
DR   MedGen; C0036337.
DR   MedGen; C0036341.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 15.
AC   DI-03101
AR   SCZD15.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia 15 with or without an affective disorder.
SY   Schizophrenia susceptibility locus chromosome 22q13-related.
DR   MIM; 613950; phenotype.
DR   MedGen; C3151380.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 17.
AC   DI-03303
AR   SCZD17.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia susceptibility locus chromosome 2p16-related.
DR   MIM; 614332; phenotype.
DR   MedGen; C3280524.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 18.
AC   DI-03726
AR   SCZD18.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia 18 with or without an affective disorder.
DR   MIM; 615232; phenotype.
DR   MedGen; C3808913.
DR   MedGen; CN169674.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 19.
AC   DI-05073
AR   SCZD19.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia 19 with or without an affective disorder.
DR   MIM; 617629; phenotype.
DR   MedGen; CN404275.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 2.
AC   DI-02511
AR   SCZD2.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia susceptibility locus chromosome 11q-related.
DR   MIM; 603342; phenotype.
DR   MedGen; C1864010.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 4.
AC   DI-02512
AR   SCZD4.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia susceptibility locus chromosome 22-related.
DR   MIM; 600850; phenotype.
DR   MedGen; C1833247.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schizophrenia 9.
AC   DI-02510
AR   SCZD9.
DE   A complex, multifactorial psychotic disorder or group of disorders
DE   characterized by disturbances in the form and content of thought (e.g.
DE   delusions, hallucinations), in mood (e.g. inappropriate affect), in
DE   sense of self and relationship to the external world (e.g. loss of ego
DE   boundaries, withdrawal), and in behavior (e.g bizarre or apparently
DE   purposeless behavior). Although it affects emotions, it is
DE   distinguished from mood disorders in which such disturbances are
DE   primary. Similarly, there may be mild impairment of cognitive
DE   function, and it is distinguished from the dementias in which
DE   disturbed cognitive function is considered primary. Some patients
DE   manifest schizophrenic as well as bipolar disorder symptoms and are
DE   often given the diagnosis of schizoaffective disorder.
SY   Schizophrenia susceptibility locus chromosome 1q-related.
DR   MIM; 604906; phenotype.
DR   MedGen; C1858050.
DR   MeSH; D012559.
KW   KW-1211:Schizophrenia.
//
ID   Schmid type metaphyseal chondrodysplasia.
AC   DI-02285
AR   SMCD.
DE   Dominantly inherited disorder of the osseous skeleton. The cardinal
DE   features of the phenotype are mild short stature, coxa vara and a
DE   waddling gait. Radiography usually shows sclerosis of the ribs,
DE   flaring of the metaphyses, and a wide irregular growth plate,
DE   especially of the knees. A variant form of SMCD is spondylometaphyseal
DE   dysplasia Japanese type. It is characterized by spinal involvement
DE   comprising mild platyspondyly, vertebral body abnormalities, and end-
DE   plate irregularity.
DR   MIM; 156500; phenotype.
DR   MedGen; C0265289.
//
ID   Schneckenbecken dysplasia.
AC   DI-02286
AR   SHNKND.
DE   A rare, lethal autosomal recessive skeletal dysplasia characterized by
DE   snail-like configuration of the hypoplastic iliac bone, short-limbed
DE   dwarfism, short ribs, and flattened, hypoplastic vertebral bodies.
DE   SHNKND is lethal in the neonatal period.
SY   Chondrodysplasia, lethal neonatal, with snail-like pelvis.
DR   MIM; 269250; phenotype.
DR   MedGen; C0432194.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Schopf-Schulz-Passarge syndrome.
AC   DI-02494
AR   SSPS.
DE   A rare ectodermal dysplasia, characterized chiefly by cysts of the
DE   eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis
DE   and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the
DE   hallmark of this condition, although they usually appear in adulthood.
DE   The concomitant presence of eccrine syringofibroadenoma in most
DE   patients and of other adnexal skin tumors in some affected subjects
DE   indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis
DE   with skin appendage neoplasms.
SY   Eccrine tumors with ectodermal dysplasia.
SY   Keratosis palmoplantaris with cystic eyelids, hypodontia and hypotrichosis.
DR   MIM; 224750; phenotype.
DR   MedGen; C1857069.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1007:Palmoplantar keratoderma.
KW   KW-1063:Hypotrichosis.
//
ID   Schuurs-Hoeijmakers syndrome.
AC   DI-03667
AR   SHMS.
DE   An autosomal dominant intellectual developmental disorder
DE   characterized by intellectual disability in combination with distinct
DE   craniofacial features and genital abnormalities.
SY   Intellectual developmental disorder, autosomal dominant 17.
SY   MRD17.
DR   MIM; 615009; phenotype.
DR   MedGen; C3554343.
DR   MedGen; CN164257.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Schwannomatosis 1.
AC   DI-02287
AR   SWN1.
DE   An autosomal dominant tumor predisposition syndrome characterized by
DE   the development of multiple benign nerve sheath tumors called
DE   schwannomas on cranial, spinal, and peripheral nerves, without
DE   involvement of the vestibular nerve. Affected individuals may also
DE   have multiple meningiomas.
SY   Congenital cutaneous neurilemmomatosis.
SY   SWNTS1.
DR   MIM; 162091; phenotype.
DR   MedGen; C1335929.
DR   MeSH; D009442.
//
ID   Schwannomatosis 2.
AC   DI-04051
AR   SWN2.
DE   A form of schwannomatosis, a tumor predisposition syndrome
DE   characterized by the development of multiple benign nerve sheath
DE   tumors called schwannomas on cranial, spinal, and peripheral nerves,
DE   without involvement of the vestibular nerve. SWN2 affected individuals
DE   have multiple schwannomas in various areas of the body. SWN2
DE   transmission pattern is consistent with autosomal dominant inheritance
DE   and incomplete penetrance.
SY   SWNTS2.
DR   MIM; 615670; phenotype.
DR   MedGen; C3810283.
DR   MedGen; CN185295.
DR   MeSH; D009442.
//
ID   Schwannomatosis, vestibular.
AC   DI-02045
AR   SWNV.
DE   An autosomal dominant neoplasia syndrome characterized by the
DE   development of multiple benign nerve sheath tumors called schwannomas,
DE   particularly affecting the vestibular nerve. Affected individuals
DE   usually present with bilateral vestibular schwannomas but can have
DE   schwannomas on other cranial, spinal, and peripheral/cutaneous nerves.
DE   Meningiomas are common, whereas 20 to 35% of affected individuals
DE   develop intramedullary spinal cord tumors called ependymomas. The
DE   condition is also characterized by several ophthalmic features such as
DE   lenticular opacities, retinal hamartoma, epiretinal membranes.
SY   Acoustic neurinoma, bilateral.
SY   Acoustic schwannomas, bilateral.
SY   ANC.
SY   BANF.
SY   Bilateral acoustic neurofibromatosis.
SY   Central neurofibromatosis.
SY   Neurofibromatosis 2.
SY   NF2.
SY   Schwannomatosis 3.
SY   SWN3.
DR   MIM; 101000; phenotype.
DR   MedGen; C0027832.
DR   MeSH; D016518.
//
ID   Schwartz-Jampel syndrome.
AC   DI-02288
AR   SJS1.
DE   Rare autosomal recessive disorder characterized by permanent myotonia
DE   (prolonged failure of muscle relaxation) and skeletal dysplasia,
DE   resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses
DE   and irregular epiphyses.
DR   MIM; 255800; phenotype.
DR   MedGen; C0036391.
//
ID   Sclerosing cholangitis, neonatal.
AC   DI-04970
AR   NSC.
DE   An autosomal recessive form of liver disease with onset in infancy.
DE   Affected infants have jaundice, cholestasis, acholic stools, and
DE   progressive liver dysfunction resulting in fibrosis and cirrhosis.
DE   Cholangiography shows patent biliary ducts, but there are bile duct
DE   irregularities.
DR   MIM; 617394; phenotype.
DR   MedGen; CN241830.
DR   MeSH; D015209.
//
ID   Sclerosteosis 1.
AC   DI-01007
AR   SOST1.
DE   An autosomal recessive sclerosing bone dysplasia characterized by a
DE   generalized hyperostosis and sclerosis leading to a markedly thickened
DE   skull, with mandible, ribs, clavicles and all long bones also being
DE   affected. Due to narrowing of the foramina of the cranial nerves,
DE   facial nerve palsy, hearing loss and atrophy of the optic nerves can
DE   occur. Sclerosteosis is clinically and radiologically very similar to
DE   van Buchem disease, mainly differentiated by hand malformations and a
DE   large stature in sclerosteosis patients.
SY   Cortical hyperostosis with syndactyly.
SY   Sclerosteosis.
SY   SOST.
DR   MIM; 269500; phenotype.
DR   MedGen; C0265301.
DR   MeSH; D015576.
//
ID   Sclerosteosis 2.
AC   DI-03282
AR   SOST2.
DE   A sclerosing bone dysplasia characterized by a generalized
DE   hyperostosis and sclerosis leading to a markedly thickened skull, with
DE   mandible, ribs, clavicles and all long bones also being affected. Due
DE   to narrowing of the foramina of the cranial nerves, facial nerve
DE   palsy, hearing loss and atrophy of the optic nerves can occur.
DE   Sclerosteosis is clinically and radiologically very similar to van
DE   Buchem disease, mainly differentiated by hand malformations and a
DE   large stature in sclerosteosis patients.
DR   MIM; 614305; phenotype.
DR   MedGen; C3280402.
DR   MeSH; D015576.
//
ID   Scott syndrome.
AC   DI-03017
AR   SCTS.
DE   A mild bleeding disorder due to impaired surface exposure of
DE   procoagulant phosphatidylserine (PS) on platelets and other blood
DE   cells, following activation with Ca(2+)-elevating agents.
SY   BDPLT7.
SY   Bleeding abnormality due to deficiency of platelet binding of factor X.
SY   Bleeding disorder platelet-type 7.
SY   Prothrombin consumption deficiency.
SY   Prothrombin consumption inhibitor familial.
SY   Prothrombin conversion defect familial.
DR   MIM; 262890; phenotype.
DR   MedGen; C0796149.
DR   MeSH; D006470.
//
ID   Sd(a) polyagglutination syndrome.
AC   DI-06283
AR   SDPS.
DE   A condition characterized by red blood cells agglutination upon
DE   exposure to almost all human sera, but not to autologous serum or the
DE   sera of newborns. The condition becomes apparent during blood typing
DE   and cross-matching in the laboratory. SDPS depends on the strength of
DE   expression of the Sd(a) antigen on red blood cells. Most people have
DE   weak anti-Sd(a) antibodies in their serum, which is usually of no
DE   clinical importance, but can result in red cell agglutination if they
DE   are transfused with cells showing strong Sd(a) expression.
DR   MIM; 615018; phenotype.
DR   MedGen; CN305190.
//
ID   Sea-blue histiocyte disease.
AC   DI-02290
AR   SBHD.
DE   Characterized by splenomegaly, mild thrombocytopenia and, in the bone
DE   marrow, numerous histiocytes containing cytoplasmic granules which
DE   stain bright blue with the usual hematologic stains. The syndrome is
DE   the consequence of an inherited metabolic defect analogous to Gaucher
DE   disease and other sphingolipidoses.
SY   Sea-blue histiocytosis.
DR   MIM; 269600; phenotype.
DR   MedGen; C0036489.
//
ID   Seborrhea-like dermatitis with psoriasiform elements.
AC   DI-02292
AR   SLDP.
DE   Characterized by a chronic fine diffuse scaly erythematous rash on the
DE   face, particularly on the chin, nasolabial folds and eyebrows, around
DE   earlobes and over the scalp. The rash exacerbate in the winter, with
DE   emotional stress and after strenuous physical activity. Hyperkeratosis
DE   of skin over the elbows, knees, palms, soles and metacarpophalangeal
DE   joints is evident. There is no arthralgia, arthritis or neurological
DE   disorders.
DR   MIM; 610227; phenotype.
DR   MedGen; C1853258.
//
ID   Seckel syndrome 1.
AC   DI-01008
AR   SCKL1.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
SY   Bird-headed dwarfism.
SY   Microcephalic primordial dwarfism I.
SY   Nanocephalic dwarfism.
SY   Seckel-type dwarfism.
DR   MIM; 210600; phenotype.
DR   MedGen; C0265202.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 10.
AC   DI-04892
AR   SCKL10.
DE   A form of Seckel syndrome, a rare autosomal recessive disorder
DE   characterized by proportionate dwarfism of prenatal onset associated
DE   with low birth weight, growth retardation, severe microcephaly with a
DE   bird-headed like appearance, and intellectual disability.
DR   MIM; 617253; phenotype.
DR   MedGen; CN239567.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 2.
AC   DI-03353
AR   SCKL2.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
SY   Bird-headed dwarfism 2.
SY   Microcephalic primordial dwarfism 2.
SY   Seckel-type dwarfism 2.
DR   MIM; 606744; phenotype.
DR   MedGen; C1847572.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 4.
AC   DI-02948
AR   SCKL4.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
DR   MIM; 613676; phenotype.
DR   MedGen; CN074082.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 5.
AC   DI-03060
AR   SCKL5.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
DR   MIM; 613823; phenotype.
DR   MedGen; C3151187.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 6.
AC   DI-03484
AR   SCKL6.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
DR   MIM; 614728; phenotype.
DR   MedGen; C3553582.
DR   MedGen; CN130471.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 7.
AC   DI-03545
AR   SCKL7.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
DR   MIM; 614851; phenotype.
DR   MedGen; C3553870.
DR   MedGen; CN158704.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 8.
AC   DI-04089
AR   SCKL8.
DE   A rare autosomal recessive disorder characterized by proportionate
DE   dwarfism of prenatal onset associated with low birth weight, growth
DE   retardation, severe microcephaly with a bird-headed like appearance,
DE   and intellectual disability.
DR   MIM; 615807; phenotype.
DR   MedGen; CN188187.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Seckel syndrome 9.
AC   DI-04640
AR   SCKL9.
DE   A form of Seckel syndrome, a rare autosomal recessive disorder
DE   characterized by proportionate dwarfism of prenatal onset associated
DE   with low birth weight, growth retardation, severe microcephaly with a
DE   bird-headed like appearance, and intellectual disability.
DR   MIM; 616777; phenotype.
DR   MedGen; CN235015.
DR   MeSH; D004392.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Sedoheptulokinase deficiency.
AC   DI-04872
AR   SHPKD.
DE   An autosomal recessive metabolic disease characterized by increased
DE   urinary erythritol and sedoheptulose. Neonatal cholestasis,
DE   hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple
DE   contractures and dysmorphisms have been reported in SHPKD patients,
DE   but the relationship of these features to the SHPKD is unclear.
DR   MIM; 617213; phenotype.
DR   MedGen; CN239115.
DR   MeSH; D008661.
//
ID   Segawa syndrome autosomal recessive.
AC   DI-00410
AR   ARSEGS.
DE   A form of DOPA-responsive dystonia presenting in infancy or early
DE   childhood. Dystonia is defined by the presence of sustained
DE   involuntary muscle contractions, often leading to abnormal postures.
DE   Some cases present with parkinsonian symptoms in infancy. Unlike all
DE   other forms of dystonia, it is an eminently treatable condition, due
DE   to a favorable response to L-DOPA.
SY   Autosomal recessive DOPA-responsive dystonia.
SY   Autosomal recessive infantile parkinsonism.
SY   Dystonia, DOPA-responsive, autosomal recessive.
SY   THD.
SY   Tyrosine hydroxylase deficiency.
DR   MIM; 605407; phenotype.
DR   MedGen; C1854299.
DR   MeSH; D020734.
KW   KW-0908:Parkinsonism.
KW   KW-1023:Dystonia.
//
ID   Seizures, benign familial infantile, 2.
AC   DI-03373
AR   BFIS2.
DE   A form of benign familial infantile epilepsy, a neurologic disorder
DE   characterized by afebrile seizures occurring in clusters during the
DE   first year of life, without neurologic sequelae. BFIS2 inheritance is
DE   autosomal dominant.
SY   Benign familial infantile convulsions 2.
SY   BFIC2.
DR   MIM; 605751; phenotype.
DR   MedGen; C1853995.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, benign familial infantile, 3.
AC   DI-00181
AR   BFIS3.
DE   A form of benign familial infantile epilepsy, a neurologic disorder
DE   characterized by afebrile seizures occurring in clusters during the
DE   first year of life, without neurologic sequelae. BFIS3 inheritance is
DE   autosomal dominant.
SY   Benign familial infantile convulsions 3.
SY   Benign familial neonatal-infantile epilepsy.
SY   Benign familial neonatal-infantile seizures.
SY   BFIC3.
SY   BFNIS.
DR   MIM; 607745; phenotype.
DR   MedGen; C1843140.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, benign familial infantile, 5.
AC   DI-04807
AR   BFIS5.
DE   A form of benign familial infantile epilepsy, a neurologic disorder
DE   characterized by afebrile seizures occurring in clusters during the
DE   first year of life, without neurologic sequelae. BFIS5 inheritance is
DE   autosomal dominant.
SY   Benign familial infantile convulsions 5.
DR   MIM; 617080; phenotype.
DR   MedGen; CN238089.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, benign familial infantile, 6.
AC   DI-05284
AR   BFIS6.
DE   A form of benign familial infantile epilepsy, a neurologic disorder
DE   characterized by afebrile seizures occurring in clusters during the
DE   first year of life, without neurologic sequelae. BFIS6 inheritance is
DE   autosomal dominant.
SY   BFIC6.
SY   Convulsions, benign familial infantile, 6.
DR   MIM; 610353; phenotype.
DR   MedGen; CN244555.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, benign familial neonatal 1.
AC   DI-00182
AR   BFNS1.
DE   A disorder characterized by clusters of seizures occurring in the
DE   first days of life. Most patients have spontaneous remission by 12
DE   months of age and show normal psychomotor development. Some rare cases
DE   manifest an atypical severe phenotype associated with epileptic
DE   encephalopathy and psychomotor retardation. The disorder is
DE   distinguished from benign familial infantile seizures by an earlier
DE   age at onset. In some patients, neonatal convulsions are followed
DE   later in life by myokymia, a benign condition characterized by
DE   spontaneous involuntary contractions of skeletal muscles fiber groups
DE   that can be observed as vermiform movement of the overlying skin.
DE   Electromyography typically shows continuous motor unit activity with
DE   spontaneous oligo- and multiplet-discharges of high intraburst
DE   frequency (myokymic discharges). Some patients may have isolated
DE   myokymia.
SY   Benign familial neonatal convulsions 1.
SY   Benign neonatal epilepsy 1.
SY   Benign neonatal epilepsy 1 and/or myokymia.
SY   Benign neonatal epilepsy 1 with myokymia.
SY   Benign neonatal epilepsy atypical severe.
SY   BFNC/myokymia syndrome.
SY   BFNC1.
SY   Convulsions benign familial neonatal 1 with myokymia.
SY   EBN1.
SY   Myokymia isolated.
SY   Myokymia with neonatal epilepsy.
DR   MIM; 121200; phenotype.
DR   MedGen; C1852587.
DR   MedGen; C2751195.
DR   MedGen; C3149074.
DR   MedGen; C3149075.
DR   MeSH; D020385.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, benign familial neonatal 2.
AC   DI-00183
AR   BFNS2.
DE   A disorder characterized by clusters of seizures occurring in the
DE   first days of life. Most patients have spontaneous remission by 12
DE   months of age and show normal psychomotor development. The disorder is
DE   distinguished from benign familial infantile seizures by an earlier
DE   age at onset.
SY   Benign familial neonatal convulsions type 2.
SY   Benign neonatal epilepsy 2.
SY   BFNC2.
SY   EBN2.
DR   MIM; 121201; phenotype.
DR   MedGen; C1852581.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
ID   Seizures, cortical blindness, and microcephaly syndrome.
AC   DI-04572
AR   SCBMS.
DE   A severe autosomal recessive neurodevelopmental disorder characterized
DE   by microcephaly, early-onset seizures, severely delayed psychomotor
DE   development, short stature, and cortical blindness.
DR   MIM; 616632; phenotype.
DR   MedGen; CN233219.
DR   MeSH; D008831.
DR   MeSH; D012640.
DR   MeSH; D019575.
KW   KW-0887:Epilepsy.
//
ID   Seizures, early-onset, with neurodegeneration and brain calcification.
AC   DI-05833
AR   SENEBAC.
DE   An autosomal recessive neurodegenerative disorder clinically
DE   characterized by refractory seizures apparent in the first year of
DE   life, mild early developmental delay, and developmental regression
DE   after seizure onset. Other features include hypotonia, hyperreflexia,
DE   peripheral spasticity, poor eye contact, absent speech, poor head
DE   control, and inability to walk. Brain imaging shows reduced white
DE   matter volume with delayed myelination, and punctate calcifications.
DR   MIM; 618875; phenotype.
DR   MedGen; CN280930.
DR   MeSH; D004827.
DR   MeSH; D019636.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Seizures, scoliosis, and macrocephaly/microcephaly syndrome.
AC   DI-04595
AR   SSMS.
DE   An autosomal recessive syndrome characterized by seizures,
DE   intellectual disability, hypotonia, scoliosis, macrocephaly,
DE   hypertelorism and renal dysfunction.
SY   Seizures-scoliosis-macrocephaly syndrome.
DR   MIM; 616682; phenotype.
DR   MedGen; CN234668.
DR   MeSH; D000015.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance.
AC   DI-02543
AR   SESAMES.
DE   A complex disorder characterized by generalized seizures with onset in
DE   infancy, delayed psychomotor development, ataxia, sensorineural
DE   hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
SY   EAST syndrome.
SY   Epilepsy ataxia sensorineural deafness and tubulopathy.
SY   SESAME syndrome.
DR   MIM; 612780; phenotype.
DR   MedGen; C2748572.
DR   MeSH; D006319.
DR   MeSH; D008607.
DR   MeSH; D012640.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Selective pituitary thyroid hormone resistance.
AC   DI-02294
AR   PRTH.
DE   Variant form of thyroid hormone resistance and is characterized by
DE   clinical hyperthyroidism, with elevated free thyroid hormones, but
DE   inappropriately normal serum TSH. Unlike GRTH, where the syndrome
DE   usually segregates with a dominant allele, the mode of inheritance in
DE   PRTH has not been established.
SY   Familial hyperthyroidism due to inappropriate thyrotropin secretion.
DR   MIM; 145650; phenotype.
DR   MedGen; C1840364.
//
ID   Senior-Loken syndrome 1.
AC   DI-01009
AR   SLSN1.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
SY   Juvenile nephronophthisis with Leber amaurosis.
SY   Renal dysplasia and retinal aplasia.
DR   MIM; 266900; phenotype.
DR   MedGen; C0403553.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 4.
AC   DI-01010
AR   SLSN4.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 606996; phenotype.
DR   MedGen; C1846979.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 5.
AC   DI-01011
AR   SLSN5.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 609254; phenotype.
DR   MedGen; C1836517.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 6.
AC   DI-01012
AR   SLSN6.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 610189; phenotype.
DR   MedGen; C1857779.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 7.
AC   DI-02941
AR   SLSN7.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 613615; phenotype.
DR   MedGen; C3150877.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 8.
AC   DI-04390
AR   SLSN8.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 616307; phenotype.
DR   MedGen; CN229500.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Senior-Loken syndrome 9.
AC   DI-04575
AR   SLSN9.
DE   A renal-retinal disorder characterized by progressive wasting of the
DE   filtering unit of the kidney (nephronophthisis), with or without
DE   medullary cystic renal disease, and progressive eye disease. Typically
DE   this disorder becomes apparent during the first year of life.
DR   MIM; 616629; phenotype.
DR   MedGen; CN229792.
DR   MeSH; D052177.
DR   MeSH; D057130.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0980:Senior-Loken syndrome.
KW   KW-0983:Nephronophthisis.
//
ID   Sensory ataxic neuropathy dysarthria and ophthalmoparesis.
AC   DI-01014
AR   SANDO.
DE   A systemic disorder resulting from mitochondrial dysfunction
DE   associated with mitochondrial depletion in skeletal muscle and
DE   peripheral nerve tissue. The clinical triad of symptoms consists of
DE   sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However,
DE   the phenotype varies widely, even within the same family, and can also
DE   include myopathy, seizures, and hearing loss.
SY   MIRAS.
SY   Mitochondrial recessive ataxia syndrome.
SY   Mitochondrial spinocerebellar ataxia-epilepsy syndrome.
SY   MSCAE.
SY   SCAE.
SY   Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive.
SY   Spinocerebellar ataxia with epilepsy.
DR   MIM; 607459; phenotype.
DR   MedGen; C1843851.
DR   MedGen; C1843852.
DR   MeSH; D015417.
KW   KW-0622:Neuropathy.
KW   KW-1274:Primary mitochondrial disease.
//
ID   Septooptic dysplasia.
AC   DI-02296
AR   SOD.
DE   A clinically heterogeneous disorder defined by any combination of
DE   optic nerve hypoplasia, pituitary gland hypoplasia with
DE   panhypopopituitarism, and midline abnormalities of the brain,
DE   including absence of the corpus callosum and septum pellucidum.
SY   de Morsier syndrome.
SY   Septo-optic dysplasia with growth hormone deficiency.
DR   MIM; 182230; phenotype.
DR   MedGen; C0338503.
DR   MeSH; D025962.
//
ID   Sessile serrated polyposis cancer syndrome.
AC   DI-04838
AR   SSPCS.
DE   A rare disease characterized by multiple and/or large serrated polyps
DE   developing in the colon, and an increased personal and familial risk
DE   of colorectal cancer. A patient is diagnosed with SSPCS if at least
DE   one of the following criteria is met: the presence of at least five
DE   sessile serrated polyps proximal to the sigmoid colon, two of which
DE   are greater than 10 mm in diameter; the presence of any number of
DE   serrated polyps occurring proximal to the sigmoid colon in an
DE   individual who has a first-degree relative with serrated polyposis;
DE   the presence of more than 20 serrated polyps of any size distributed
DE   throughout the colon. Sessile serrated polyps are also known as
DE   sessile serrated adenomas (SSA) and are estimated to be responsible
DE   for 20 to 35% of all colon cancers. Individuals with SSPCS may have a
DE   strong personal or family history of extracolonic cancers.
DR   MIM; 617108; phenotype.
DR   MedGen; CN238478.
DR   MeSH; D003110.
//
ID   Severe combined immunodeficiency Athabaskan type.
AC   DI-01015
AR   SCIDA.
DE   A variety of SCID with sensitivity to ionizing radiation. A founder
DE   mutation has been detected in Athabascan-speaking native Americans,
DE   being inherited as an autosomal recessive trait. Affected individuals
DE   exhibit clinical symptoms and defects in DNA repair comparable to
DE   those seen in RS-SCID.
DR   MIM; 602450; phenotype.
DR   MedGen; C1865371.
DR   MedGen; C1865372.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency.
AC   DI-01016
AR   ADASCID.
DE   An autosomal recessive disorder accounting for about 50% of non-X-
DE   linked SCIDs. SCID refers to a genetically and clinically
DE   heterogeneous group of rare congenital disorders characterized by
DE   impairment of both humoral and cell-mediated immunity, leukopenia, and
DE   low or absent antibody levels. Patients with SCID present in infancy
DE   with recurrent, persistent infections by opportunistic organisms. The
DE   common characteristic of all types of SCID is absence of T-cell-
DE   mediated cellular immunity due to a defect in T-cell development. ADA
DE   deficiency has been diagnosed in chronically ill teenagers and adults
DE   (late or adult onset). Population and newborn screening programs have
DE   also identified several healthy individuals with normal immunity who
DE   have partial ADA deficiency.
SY   ADA deficiency.
SY   Adenosine deaminase deficiency.
SY   SCID due to ADA deficiency.
SY   Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell negative due to adenosine deaminase deficiency.
SY   Severe combined immunodeficiency autosomal recessive T-cell-negative/B cell-negative/NK cell-negative due to adenosine deaminase deficiency.
SY   Severe combined immunodeficiency due to ADA deficiency.
DR   MIM; 102700; phenotype.
DR   MedGen; C1863236.
DR   MedGen; C1863237.
DR   MedGen; C1863238.
DR   MedGen; C1863239.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive.
AC   DI-01019
AR   T(-)B(-)NK(+) SCID.
DE   A form of severe combined immunodeficiency (SCID), a genetically and
DE   clinically heterogeneous group of rare congenital disorders
DE   characterized by impairment of both humoral and cell-mediated
DE   immunity, leukopenia, and low or absent antibody levels. Patients
DE   present in infancy recurrent, persistent infections by opportunistic
DE   organisms. The common characteristic of all types of SCID is absence
DE   of T-cell-mediated cellular immunity due to a defect in T-cell
DE   development.
SY   SCID T cell-negative B cell-negative NK cell-positive.
SY   Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-negative/NK cell-positive.
SY   Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell negative/NK-cell positive.
DR   MIM; 601457; phenotype.
DR   MedGen; C1832322.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation.
AC   DI-01020
AR   RSSCID.
DE   A form of severe combined immunodeficiency, a genetically and
DE   clinically heterogeneous group of rare congenital disorders
DE   characterized by impairment of both humoral and cell-mediated
DE   immunity, leukopenia, and low or absent antibody levels. Patients
DE   present in infancy with recurrent, persistent infections by
DE   opportunistic organisms. The common characteristic of all types of
DE   SCID is absence of T-cell-mediated cellular immunity due to a defect
DE   in T-cell development. Individuals affected by RS-SCID show defects in
DE   the DNA repair machinery necessary for coding joint formation and the
DE   completion of V(D)J recombination. A subset of cells from such
DE   patients show increased radiosensitivity.
SY   Athabascan SCID.
SY   SCIDA.
SY   Severe combined immunodeficiency with sensitivity to ionizing radiation.
DR   MIM; 602450; phenotype.
DR   MedGen; C1865370.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative.
AC   DI-01017
AR   T(-)B(+)NK(-) SCID.
DE   A form of severe combined immunodeficiency (SCID), a genetically and
DE   clinically heterogeneous group of rare congenital disorders
DE   characterized by impairment of both humoral and cell-mediated
DE   immunity, leukopenia, and low or absent antibody levels. Patients
DE   present in infancy recurrent, persistent infections by opportunistic
DE   organisms. The common characteristic of all types of SCID is absence
DE   of T-cell-mediated cellular immunity due to a defect in T-cell
DE   development.
SY   Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-negative.
SY   Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell negative.
DR   MIM; 600802; phenotype.
DR   MedGen; C1833275.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Severe combined immunodeficiency due to NHEJ1 deficiency.
AC   DI-02297
AR   NHEJ1-SCID.
DE   SCID refers to a genetically and clinically heterogeneous group of
DE   rare congenital disorders characterized by impairment of both humoral
DE   and cell-mediated immunity, leukopenia and low or absent antibody
DE   levels. Patients with SCID present in infancy with recurrent,
DE   persistent infections by opportunistic organisms. The common
DE   characteristic of all types of SCID is absence of T-cell-mediated
DE   cellular immunity due to a defect in T-cell development. NHEJ1-SCID is
DE   characterized by a profound T- and B-lymphocytopenia associated with
DE   increased cellular sensitivity to ionizing radiation, microcephaly and
DE   growth retardation. Some patients may manifest SCID with sensitivity
DE   to ionizing radiation without microcephaly and mild growth
DE   retardation, probably due to hypomorphic NHEJ1 mutations.
SY   Autosomal recessive T-cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation.
SY   NHEJ1 syndrome.
DR   MIM; 611291; phenotype.
DR   MedGen; C1969799.
DR   MedGen; C1969800.
//
ID   Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative.
AC   DI-01022
AR   XSCID.
DE   A form of severe combined immunodeficiency (SCID), a genetically and
DE   clinically heterogeneous group of rare congenital disorders
DE   characterized by impairment of both humoral and cell-mediated
DE   immunity, leukopenia, and low or absent antibody levels. Patients
DE   present in infancy recurrent, persistent infections by opportunistic
DE   organisms. The common characteristic of all types of SCID is absence
DE   of T-cell-mediated cellular immunity due to a defect in T-cell
DE   development.
SY   Agammaglobulinemia Swiss type.
SY   IMD4.
SY   Immunodeficiency 4.
SY   SCIDX.
SY   SCIDX1.
SY   SCID X-linked.
SY   Severe combined immunodeficiency X-linked T cell-negative/B cell-positive/NK cell-negative.
SY   Severe combined immunodeficiency X-linked T-cell negative/B-cell positive/NK-cell negative.
DR   MIM; 300400; phenotype.
DR   MedGen; C1279481.
DR   MedGen; C2931540.
DR   MeSH; D016511.
KW   KW-0705:SCID.
//
ID   Shaheen syndrome.
AC   DI-03822
AR   SHNS.
DE   An autosomal recessive syndrome characterized by severe intellectual
DE   disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis
DE   of the palms and soles. Some may develop mild microcephaly.
DR   MIM; 615328; phenotype.
DR   MedGen; C3809160.
DR   MedGen; CN178079.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Shashi-Pena syndrome.
AC   DI-04877
AR   SHAPNS.
DE   An autosomal dominant syndrome characterized by delayed psychomotor
DE   development, intellectual disability of variable severity,
DE   macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a
DE   glabellar nevus flammeus, neonatal feeding difficulties, and
DE   hypotonia. Some patients may also have atrial septal defect, episodic
DE   hypoglycemia, changes in bone mineral density, and/or seizures.
DR   MIM; 617190; phenotype.
DR   MedGen; CN239057.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Short QT syndrome 1.
AC   DI-01024
AR   SQT1.
DE   A form of short QT syndrome, a heart disorder characterized by
DE   idiopathic persistently and uniformly short QT interval on ECG in the
DE   absence of structural heart disease in affected individuals. It can
DE   cause syncope and sudden death.
DR   MIM; 609620; phenotype.
DR   MedGen; C1865020.
DR   MeSH; D001145.
KW   KW-0940:Short QT syndrome.
//
ID   Short QT syndrome 2.
AC   DI-01025
AR   SQT2.
DE   An autosomal dominant form of short QT syndrome, a heart disorder
DE   characterized by idiopathic persistently and uniformly short QT
DE   interval on ECG in the absence of structural heart disease in affected
DE   individuals. It can cause syncope and sudden death.
DR   MIM; 609621; phenotype.
DR   MedGen; C1865019.
DR   MeSH; D001145.
KW   KW-0940:Short QT syndrome.
//
ID   Short QT syndrome 3.
AC   DI-01026
AR   SQT3.
DE   A form of short QT syndrome, a heart disorder characterized by
DE   idiopathic persistently and uniformly short QT interval on ECG in the
DE   absence of structural heart disease in affected individuals. It can
DE   cause syncope and sudden death. SQT3 has a unique ECG phenotype
DE   characterized by asymmetrical T waves.
DR   MIM; 609622; phenotype.
DR   MedGen; C1865018.
DR   MeSH; D001145.
KW   KW-0940:Short QT syndrome.
//
ID   Short QT syndrome 7.
AC   DI-06598
AR   SQT7.
DE   An autosomal dominant form of short QT syndrome, a heart disorder
DE   characterized by idiopathic persistently and uniformly short QT
DE   interval on ECG in the absence of structural heart disease in affected
DE   individuals. It can cause syncope and sudden death.
DR   MIM; 620231; phenotype.
DR   MedGen; CN323197.
DR   MeSH; D001145.
KW   KW-0940:Short QT syndrome.
//
ID   Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
AC   DI-02814
AR   SSOAOD.
DE   An autosomal dominant disease characterized by short stature, advanced
DE   bone maturation, early-onset osteoarthritis, and mild dysmorphic
DE   features consisting of midface hypoplasia, brachydactyly, broad great
DE   toes, and lumbar lordosis. Other features include intervertebral disk
DE   disease and osteochondritis dissecans. Osteochondritis dissecans is
DE   defined as a separation of cartilage and subchondral bone from the
DE   surrounding tissue.
SY   Osteochondritis dissecans, short stature, and early-onset osteoarthritis.
DR   MIM; 165800; phenotype.
DR   MedGen; C0029421.
DR   MedGen; C3665488.
DR   MeSH; D010008.
KW   KW-0242:Dwarfism.
//
ID   Short stature and microcephaly with genital anomalies.
AC   DI-05717
AR   SSMGA.
DE   An autosomal recessive disease characterized by growth failure
DE   resulting in severe short stature, severe microcephaly, and delayed
DE   and dissociated bone age. Additional features include global
DE   psychomotor developmental delay, pubertal delay and genital anomalies.
DR   MIM; 618702; phenotype.
DR   MedGen; CN263059.
DR   MeSH; D004392.
DR   MeSH; D008831.
DR   MeSH; D014564.
KW   KW-0242:Dwarfism.
//
ID   Short stature with microcephaly and distinctive facies.
AC   DI-04112
AR   SSMCF.
DE   An autosomal recessive disease characterized by dwarfism,
DE   microcephaly, and distinctive facial dysmorphism involving frontal
DE   bossing, high forehead, sparse hair and eyebrows, telecanthus, mild
DE   proptosis, anteverted nares, and flat nasal bridge.
DR   MIM; 615789; phenotype.
DR   MedGen; CN187049.
DR   MeSH; D004392.
DR   MeSH; D008831.
DR   MeSH; D019066.
KW   KW-0242:Dwarfism.
//
ID   Short stature with non-specific skeletal abnormalities.
AC   DI-04508
AR   SNSK.
DE   A condition characterized by short stature, defined as a height less
DE   than 2 SD below normal, and no endocrine abnormalities.
DR   MIM; 616255; phenotype.
DR   MedGen; CN232354.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
AC   DI-05512
AR   SSASKS.
DE   An autosomal recessive disorder characterized by disproportionate
DE   short stature, defective tooth enamel formation, and skeletal
DE   dysplasia with severe scoliosis in some patients. Variable features
DE   include facial dysmorphism, hearing impairment, and mildly impaired
DE   intellectual development.
DR   MIM; 618363; phenotype.
DR   MedGen; CN258254.
DR   MeSH; D000567.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities.
AC   DI-04071
AR   SAMS.
DE   An autosomal recessive developmental disorder with features of a first
DE   and second branchial arch syndrome, and with unique rhizomelic
DE   skeletal anomalies. Craniofacial abnormalities can lead to conductive
DE   hearing loss, respiratory insufficiency, and feeding difficulties.
DE   Skeletal features include bilateral humeral hypoplasia, humeroscapular
DE   synostosis, pelvic abnormalities, and proximal defects of the femora.
DE   Affected individuals may also have some features of a neurocristopathy
DE   or abnormal mesoderm development, such as urogenital anomalies, that
DE   are distinct from other branchial arch syndromes.
DR   MIM; 602471; phenotype.
DR   MedGen; C1865361.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Short stature, brachydactyly, impaired intellectual developmental, and seizures.
AC   DI-04865
AR   SBIDDS.
DE   An autosomal recessive disease characterized by developmental delay,
DE   learning disabilities, mild intellectual disability, delayed speech,
DE   and skeletal abnormalities. Skeletal features include short stature,
DE   brachydactyly, and short metacarpals and metatarsals.
SY   Short stature, brachydactyly, intellectual developmental disability, and seizures.
DR   MIM; 617157; phenotype.
DR   MedGen; CN238697.
DR   MeSH; D001847.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Short stature, Dauber-Argente type.
AC   DI-06211
AR   SSDA.
DE   An autosomal recessive disorder characterized by progressive postnatal
DE   growth failure, moderate microcephaly, thin long bones, mildly
DE   decreased bone density, and elevated serum levels of total IGF1,
DE   IGFBP3 and IGFBP5. Levels of circulating free IGF1 are reduced.
DR   MIM; 619489; phenotype.
DR   MedGen; CN300348.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Short stature, developmental delay, and congenital heart defects.
AC   DI-04769
AR   SDDHD.
DE   An autosomal recessive syndrome characterized by short stature,
DE   developmental delay, intellectual disability and congenital heart
DE   defects including ventricular septal defect, atrial septal defect and
DE   patent foramen ovale. Cataract and uveitis are observed in some
DE   patients.
SY   TKT deficiency.
SY   Transketolase deficiency.
DR   MIM; 617044; phenotype.
DR   MedGen; CN237416.
DR   MeSH; D004392.
DR   MeSH; D006330.
DR   MeSH; D065886.
KW   KW-0242:Dwarfism.
//
ID   Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1.
AC   DI-05196
AR   SSFSC1.
DE   An autosomal dominant disorder characterized by short stature, facial
DE   dysmorphism, skeletal anomalies, and variable cardiac defects.
DE   Distinctive facial features include midface retrusion, short upturned
DE   nose, long philtrum, high-arched or cleft palate, and variable degrees
DE   of micrognathia and dental crowding. Skeletal anomalies include
DE   patterning defects of the axial skeleton, characterized by 11 pairs of
DE   ribs and brachydactyly of the fifth ray. Congenital heart defects are
DE   variably observed and appear to involve primarily the cardiac outflow
DE   tract.
DR   MIM; 617877; phenotype.
DR   MedGen; CN807949.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2.
AC   DI-06048
AR   SSFSC2.
DE   An autosomal recessive disorder characterized by reduced growth,
DE   skeletal abnormalities, a distinctive craniofacial appearance, and
DE   dental anomalies. Cardiac anomalies have been reported in some
DE   patients.
DR   MIM; 619184; phenotype.
DR   MedGen; CN295282.
DR   MeSH; D001848.
DR   MeSH; D014076.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
AC   DI-05141
AR   SHRF.
DE   An autosomal recessive disorder characterized by childhood myopia,
DE   early onset retinitis pigmentosa, progressive sensorineural hearing
DE   loss, hypothyroidism, short stature, brachydactyly, recognisable
DE   facial gestalt, premature ageing and mild intellectual disability.
DR   MIM; 617763; phenotype.
DR   MedGen; CN603946.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0682:Retinitis pigmentosa.
//
ID   Short stature, idiopathic, X-linked.
AC   DI-01807
AR   ISS.
DE   A condition defined by a standing height more than 2 standard
DE   deviations below the mean (or below the 2.5 percentile) for sex and
DE   chronological age, compared with a well-nourished, genetically
DE   relevant population, in the absence of specific causative disorders.
DR   MIM; 300582; phenotype.
DR   MedGen; C1845118.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies.
AC   DI-06249
AR   SIMHA.
DE   An autosomal recessive syndrome characterized by short stature,
DE   impaired intellectual development, microcephaly, hypotonia, and ocular
DE   anomalies.
SY   SIMHA syndrome.
DR   MIM; 619557; phenotype.
DR   MedGen; CN300601.
DR   MeSH; D001848.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Short stature, microcephaly, and endocrine dysfunction.
AC   DI-04525
AR   SSMED.
DE   A disease characterized by short stature and microcephaly apparent at
DE   birth, progressive postnatal growth failure, and endocrine
DE   dysfunction. In affected adults endocrine features include
DE   hypergonadotropic hypogonadism, multinodular goiter, and diabetes
DE   mellitus. Variable features observed in some patients are progressive
DE   ataxia, and lymphopenia or borderline leukopenia.
DR   MIM; 616541; phenotype.
DR   MedGen; CN232399.
DR   MeSH; D003920.
DR   MeSH; D004392.
DR   MeSH; D006044.
DR   MeSH; D007006.
DR   MeSH; D008831.
KW   KW-0242:Dwarfism.
//
ID   Short stature, oligodontia, dysmorphic facies, and motor delay.
AC   DI-06060
AR   SOFM.
DE   An autosomal recessive disorder with phenotypic variability. The main
DE   clinical features include endosteal hyperostosis, short stature,
DE   oligodontia, mild facial dysmorphisms, and delayed motor development.
DE   Some patients show progeroid features.
DR   MIM; 619234; phenotype.
DR   MedGen; CN295849.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
//
ID   Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.
AC   DI-03517
AR   SOFT.
DE   A syndrome characterized by severely short long bones, peculiar facies
DE   associated with paucity of hair, and nail anomalies. Growth
DE   retardation is evident on prenatal ultrasound as early as the second
DE   trimester of pregnancy, and affected individuals reach a final stature
DE   consistent with a height age of 6 years to 8 years. Relative
DE   macrocephaly is present during early childhood but head circumference
DE   is markedly low by adulthood. Psychomotor development is normal.
DE   Facial dysmorphism includes a long, triangular face with prominent
DE   nose and small ears, and affected individuals have an unusual high-
DE   pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal
DE   phalanges and fingernails are present in association with postpubertal
DE   sparse and short hair. Typical skeletal findings include short and
DE   thick long bones with mild irregular metaphyseal changes, short
DE   femoral necks, and hypoplastic pelvis and sacrum. All long bones of
DE   the hand are short, with major delay of carpal ossification and cone-
DE   shaped epiphyses. Vertebral body ossification is also delayed.
SY   SOFT syndrome.
DR   MIM; 614813; phenotype.
DR   MedGen; C3542022.
DR   MedGen; CN143712.
DR   MeSH; D004392.
DR   MeSH; D007039.
DR   MeSH; D009260.
KW   KW-0242:Dwarfism.
KW   KW-1063:Hypotrichosis.
KW   KW-1186:Ciliopathy.
//
ID   Short stature, optic nerve atrophy, and Pelger-Huet anomaly.
AC   DI-03531
AR   SOPH.
DE   An autosomal recessive syndrome characterized by severe postnatal
DE   growth retardation, facial dysmorphism with senile face, small hands
DE   and feet, normal intelligence, abnormal nuclear shape in neutrophil
DE   granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of
DE   visual acuity and color vision.
SY   SOPH syndrome.
DR   MIM; 614800; phenotype.
DR   MedGen; C3541319.
DR   MeSH; D004392.
DR   MeSH; D009896.
DR   MeSH; D010381.
KW   KW-0242:Dwarfism.
//
ID   Short stature-micrognathia syndrome.
AC   DI-04856
AR   SSMG.
DE   An autosomal dominant disorder characterized by facial dysmorphism,
DE   severe micrognathia, microcephaly, rhizomelic short stature, and mild
DE   developmental delay.
SY   Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.
SY   SRMMD.
DR   MIM; 617164; phenotype.
DR   MedGen; CN238794.
DR   MeSH; D002658.
DR   MeSH; D004392.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
ID   SHORT syndrome.
AC   DI-03868
AR   SHORTS.
DE   A rare, multisystem disease characterized by short stature, anomalies
DE   of the anterior chamber of the eye, characteristic facial features
DE   such as triangular facies, lack of facial fat, and hypoplastic nasal
DE   alae with overhanging columella, partial lipodystrophy, hernias,
DE   hyperextensibility, and delayed dentition. The clinical phenotype can
DE   include insulin resistance, nephrocalcinosis, and hearing deficits.
DE   Developmental milestones and cognition are normal.
SY   Partial lipodystrophy with Rieger anomaly and short stature.
SY   Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay.
DR   MIM; 269880; phenotype.
DR   MedGen; C0878684.
DR   MeSH; D004392.
DR   MeSH; D005124.
DR   MeSH; D008060.
KW   KW-0242:Dwarfism.
//
ID   Short-rib thoracic dysplasia 10 with or without polydactyly.
AC   DI-04035
AR   SRTD10.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 615630; phenotype.
DR   MedGen; C3810175.
DR   MedGen; CN184534.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 11 with or without polydactyly.
AC   DI-04036
AR   SRTD11.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 615633; phenotype.
DR   MedGen; C3810200.
DR   MedGen; CN184535.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 13 with or without polydactyly.
AC   DI-04389
AR   SRTD13.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 616300; phenotype.
DR   MedGen; CN229499.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 14 with polydactyly.
AC   DI-04524
AR   SRTD14.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 616546; phenotype.
DR   MedGen; CN232557.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 15 with polydactyly.
AC   DI-04792
AR   SRTD15.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617088; phenotype.
DR   MedGen; CN238092.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 16 with or without polydactyly.
AC   DI-04794
AR   SRTD16.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617102; phenotype.
DR   MedGen; CN238098.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 17 with or without polydactyly.
AC   DI-04957
AR   SRTD17.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617405; phenotype.
DR   MedGen; CN241837.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 18 with polydactyly.
AC   DI-05191
AR   SRTD18.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617866; phenotype.
DR   MedGen; CN795020.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 19 with or without polydactyly.
AC   DI-05204
AR   SRTD19.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617895; phenotype.
DR   MedGen; CN842245.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 2 with or without polydactyly.
AC   DI-01192
AR   SRTD2.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Asphyxiating thoracic dystrophy 2.
SY   ATD2.
SY   JATD.
SY   Jeune asphyxiating thoracic dystrophy.
SY   Jeune syndrome 2.
DR   MIM; 611263; phenotype.
DR   MedGen; C1970005.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 20 with polydactyly.
AC   DI-05203
AR   SRTD20.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 617925; phenotype.
DR   MedGen; CN902090.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 21 without polydactyly.
AC   DI-06195
AR   SRTD21.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 619479; phenotype.
DR   MedGen; CN301129.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 3 with or without polydactyly.
AC   DI-02583
AR   SRTD3.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Asphyxiating thoracic dystrophy 3.
SY   ATD3.
SY   JATD.
SY   Jeune asphyxiating thoracic dystrophy.
SY   Jeune syndrome 3.
SY   Majewski syndrome.
SY   Polydactyly with neonatal chondrodystrophy type I.
SY   Polydactyly with neonatal chondrodystrophy type III.
SY   Saldino-Noonan syndrome.
SY   Short rib-polydactyly syndrome type I.
SY   Short rib-polydactyly syndrome type IIB.
SY   Short rib-polydactyly syndrome type III.
SY   SRPS1.
SY   SRPS2B.
SY   SRPS3.
SY   SRPS type IIB.
SY   SRPS type III.
SY   Verma-Naumoff syndrome.
DR   MIM; 613091; phenotype.
DR   MedGen; C2751311.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 4 with or without polydactyly.
AC   DI-03067
AR   SRTD4.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Asphyxiating thoracic dystrophy 4.
SY   ATD4.
SY   JATD.
SY   Jeune asphyxiating thoracic dystrophy.
SY   Jeune syndrome 4.
DR   MIM; 613819; phenotype.
DR   MedGen; C3151185.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 5 with or without polydactyly.
AC   DI-03325
AR   SRTD5.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Asphyxiating thoracic dystrophy 5.
SY   ATD5.
SY   JATD.
SY   Jeune asphyxiating thoracic dystrophy.
SY   Jeune syndrome 5.
DR   MIM; 614376; phenotype.
DR   MedGen; C3280598.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 6 with or without polydactyly.
AC   DI-03018
AR   SRTD6.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Majewski syndrome.
SY   Polydactyly with neonatal chondrodystrophy type II.
SY   Short rib-polydactyly syndrome 2A.
SY   Short rib-polydactyly syndrome type II.
SY   Short rib-polydactyly syndrome type IIA.
SY   SRPS2A.
SY   SRPS type II.
DR   MIM; 263520; phenotype.
DR   MedGen; C0024507.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 7 with or without polydactyly.
AC   DI-03182
AR   SRTD7.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are
DE   acromesomelic hypomineralization, campomelia, polysyndactyly,
DE   laterality defects, and cystic kidneys.
SY   Short rib-polydactyly syndrome type V.
SY   SRPS5.
SY   SRPS type V.
DR   MIM; 614091; phenotype.
DR   MedGen; C3279792.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 7/20 with polydactyly, digenic.
AC   DI-05258
AR   SRTD7/20.
DE   A digenic form of short-rib thoracic dysplasia caused by double
DE   heterozygosity for a mutation in the WDR35 gene and a mutation in the
DE   INTU gene. Short-rib thoracic dysplasia is part of a group of
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
DR   MIM; 614091; phenotype.
DR   MedGen; C3279792.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 8 with or without polydactyly.
AC   DI-03926
AR   SRTD8.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome.
SY   Short rib-polydactyly syndrome type VI.
SY   SRPS6.
SY   SRPS type VI.
DR   MIM; 615503; phenotype.
DR   MedGen; C3809691.
DR   MedGen; CN180645.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short-rib thoracic dysplasia 9 with or without polydactyly.
AC   DI-03475
AR   SRTD9.
DE   A form of short-rib thoracic dysplasia, a group of autosomal recessive
DE   ciliopathies that are characterized by a constricted thoracic cage,
DE   short ribs, shortened tubular bones, and a 'trident' appearance of the
DE   acetabular roof. Polydactyly is variably present. Non-skeletal
DE   involvement can include cleft lip/palate as well as anomalies of major
DE   organs such as the brain, eye, heart, kidneys, liver, pancreas,
DE   intestines, and genitalia. Some forms of the disease are lethal in the
DE   neonatal period due to respiratory insufficiency secondary to a
DE   severely restricted thoracic cage, whereas others are compatible with
DE   life. Disease spectrum encompasses Ellis-van Creveld syndrome,
DE   asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino
DE   syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized
DE   by phalangeal cone-shaped epiphyses, chronic renal disease, nearly
DE   constant retinal dystrophy, and mild radiographic abnormality of the
DE   proximal femur. Occasional features include short stature, cerebellar
DE   ataxia, and hepatic fibrosis.
SY   Conorenal syndrome.
SY   Mainzer-Saldino disease.
SY   Mainzer-Saldino syndrome.
SY   MSS.
SY   MZSDS.
SY   Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia.
DR   MIM; 266920; phenotype.
DR   MedGen; C1849437.
DR   MeSH; D002524.
DR   MeSH; D012174.
DR   MeSH; D012779.
KW   KW-1186:Ciliopathy.
//
ID   Short/branched-chain acyl-CoA dehydrogenase deficiency.
AC   DI-02302
AR   SBCADD.
DE   Autosomal recessive disorder and consists of a defect in catabolism of
DE   L-isoleucine which is characterized by an increase of 2-
DE   methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine.
DE   Affected individuals have seizures and psychomotor delay as the main
DE   clinical features.
SY   2-methylbutyryl-CoA dehydrogenase deficiency.
SY   2-methylbutyryl glycinuria.
DR   MIM; 610006; phenotype.
DR   MedGen; C1864912.
//
ID   Shprintzen-Goldberg craniosynostosis syndrome.
AC   DI-01027
AR   SGS.
DE   A very rare syndrome characterized by a marfanoid habitus,
DE   craniosynostosis, characteristic dysmorphic facial features, skeletal
DE   and cardiovascular abnormalities, intellectual disability,
DE   developmental delay and learning disabilities.
SY   Craniosynostosis with arachnodactyly and abdominal hernias.
SY   Marfanoid craniosynostosis syndrome.
SY   Marfanoid disorder with craniosynostosis type I.
DR   MIM; 182212; phenotype.
DR   MedGen; C1321551.
DR   MeSH; D003398.
DR   MeSH; D008382.
DR   MeSH; D054119.
KW   KW-0989:Craniosynostosis.
//
ID   Shukla-Vernon syndrome.
AC   DI-05604
AR   SHUVER.
DE   An X-linked neurodevelopmental disorder manifesting in affected males
DE   with intellectual and learning disability, motor and language delay,
DE   autism spectrum disorder, attention deficit and hyperactivity
DE   disorder, and dysmorphic features. Some patients may have seizures
DE   and/or cerebellar atrophy on brain imaging. Carrier females may have
DE   mild disease manifestations.
DR   MIM; 301029; phenotype.
DR   MedGen; CN261159.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Shwachman-Diamond syndrome 1.
AC   DI-02303
AR   SDS1.
DE   A form of Shwachman-Diamond syndrome, a disorder characterized by
DE   hematopoietic abnormalities, exocrine pancreatic dysfunction, and
DE   skeletal dysplasia. Intermittent or chronic neutropenia is the most
DE   common hematological manifestation, followed by anemia and
DE   thrombocytopenia. Some patients progress to bone marrow failure,
DE   myelodysplastic syndrome and malignant transformation, with acute
DE   myelogenous leukemia being the most common. Exocrine pancreatic
DE   dysfunction is generally the first presenting symptom in infancy.
DE   Short stature and metaphyseal dysplasia are the most frequent skeletal
DE   manifestations. SDS1 inheritance is autosomal recessive.
DR   MIM; 260400; phenotype.
DR   MedGen; C0272170.
DR   MeSH; D001848.
DR   MeSH; D006402.
DR   MeSH; D010188.
//
ID   Shwachman-Diamond syndrome 2.
AC   DI-05230
AR   SDS2.
DE   A form of Shwachman-Diamond syndrome, a disorder characterized by
DE   hematopoietic abnormalities, exocrine pancreatic dysfunction, and
DE   skeletal dysplasia. Intermittent or chronic neutropenia is the most
DE   common hematological manifestation, followed by anemia and
DE   thrombocytopenia. Some patients progress to bone marrow failure,
DE   myelodysplastic syndrome and malignant transformation, with acute
DE   myelogenous leukemia being the most common. Exocrine pancreatic
DE   dysfunction is generally the first presenting symptom in infancy.
DE   Short stature and metaphyseal dysplasia are the most frequent skeletal
DE   manifestations. SDS2 inheritance is autosomal recessive.
DR   MIM; 617941; phenotype.
DR   MedGen; CN244554.
DR   MeSH; D001848.
DR   MeSH; D006402.
DR   MeSH; D010188.
//
ID   Sialidosis.
AC   DI-02304
AR   SIALIDOSIS.
DE   Lysosomal storage disease occurring as two types with various
DE   manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome
DE   or normosomatic type) is late-onset and it is characterized by the
DE   formation of cherry red macular spots in childhood, progressive
DE   debilitating myoclonus, insiduous visual loss and rarely ataxia. The
DE   diagnosis can be confirmed by the screening of the urine for
DE   sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic
DE   type) occurs as several variants of increasing severity with earlier
DE   age of onset. It is characterized by the presence of abnormal somatic
DE   features including coarse facies and dysostosis multiplex, vertebral
DE   deformities, intellectual disability, cherry-red spot/myoclonus,
DE   sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone
DE   marrow cells and conjunctival epithelial cells.
DR   MIM; 256550; phenotype.
DR   MedGen; C0023806.
DR   MedGen; C0268226.
DR   MedGen; C0268228.
DR   MedGen; C1850510.
//
ID   Sialuria.
AC   DI-02305
AR   SIALURIA.
DE   In sialuria, free sialic acid accumulates in the cytoplasm and gram
DE   quantities of neuraminic acid are secreted in the urine. The metabolic
DE   defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase
DE   by CMP-Neu5Ac, resulting in constitutive overproduction of free
DE   Neu5Ac. Clinical features include variable degrees of developmental
DE   delay, coarse facial features and hepatomegaly. Sialuria inheritance
DE   is autosomal dominant.
SY   Sialuria French type.
DR   MIM; 269921; phenotype.
DR   MedGen; C0342853.
DR   MedGen; C2931471.
//
ID   Sick sinus syndrome 1.
AC   DI-01028
AR   SSS1.
DE   The term 'sick sinus syndrome' encompasses a variety of conditions
DE   caused by sinus node dysfunction. The most common clinical
DE   manifestations are syncope, presyncope, dizziness, and fatigue.
DE   Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE   and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE   with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE   common in this disorder. SSS occurs most often in the elderly
DE   associated with underlying heart disease or previous cardiac surgery,
DE   but can also occur in the fetus, infant, or child without heart
DE   disease or other contributing factors. SSS1 onset is in utero,
DE   infancy, or early childhood.
SY   Autosomal recessive sick sinus syndrome 1.
SY   Congenital absence of sinus rhythm.
SY   Familial sinus bradycardia syndrome.
SY   Familial sinus node disease autosomal recessive.
SY   Sick sinus syndrome, congenital.
SY   Sinus bradycardia syndrome, familial.
SY   Sinus node disease, familial, autosomal recessive.
DR   MIM; 608567; phenotype.
DR   MedGen; C1837845.
DR   MeSH; D012804.
//
ID   Sick sinus syndrome 2.
AC   DI-01029
AR   SSS2.
DE   The term 'sick sinus syndrome' encompasses a variety of conditions
DE   caused by sinus node dysfunction. The most common clinical
DE   manifestations are syncope, presyncope, dizziness, and fatigue.
DE   Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE   and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE   with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE   common in this disorder. SSS occurs most often in the elderly
DE   associated with underlying heart disease or previous cardiac surgery,
DE   but can also occur in the fetus, infant, or child without heart
DE   disease or other contributing factors. SSS2 onset is in utero or at
DE   birth.
SY   Atrial fibrillation with bradyarrhythmia.
SY   Autosomal dominant sick sinus syndrome 2.
SY   Familial sinus bradycardia syndrome autosomal dominant.
SY   Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation.
SY   Sinus bradycardia syndrome, familial, autosomal dominant.
SY   Sinus node disease, familial, autosomal dominant.
SY   SSS autosomal dominant.
DR   MIM; 163800; phenotype.
DR   MedGen; C1834144.
DR   MeSH; D001281.
DR   MeSH; D012804.
//
ID   Sick sinus syndrome 3.
AC   DI-03155
AR   SSS3.
DE   The term 'sick sinus syndrome' encompasses a variety of conditions
DE   caused by sinus node dysfunction. The most common clinical
DE   manifestations are syncope, presyncope, dizziness, and fatigue.
DE   Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE   and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE   with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE   common in this disorder. SSS occurs most often in the elderly
DE   associated with underlying heart disease or previous cardiac surgery,
DE   but can also occur in the fetus, infant, or child without heart
DE   disease or other contributing factors.
DR   MIM; 614090; phenotype.
DR   MedGen; C3279791.
DR   MeSH; D012804.
//
ID   Sick sinus syndrome 4.
AC   DI-06153
AR   SSS4.
DE   The term 'sick sinus syndrome' encompasses a variety of conditions
DE   caused by sinus node dysfunction. The most common clinical
DE   manifestations are syncope, presyncope, dizziness, and fatigue.
DE   Electrocardiogram typically shows sinus bradycardia, sinus arrest,
DE   and/or sinoatrial block. Episodes of atrial tachycardias coexisting
DE   with sinus bradycardia ('tachycardia-bradycardia syndrome') are also
DE   common in this disorder. SSS occurs most often in the elderly
DE   associated with underlying heart disease or previous cardiac surgery,
DE   but can also occur in the fetus, infant, or child without heart
DE   disease or other contributing factors. SSS4 is characterized by early
DE   and progressive sinus node and atrioventricular conduction
DE   dysfunction. Some affected individuals are asymptomatic. SSS4
DE   inheritance is autosomal dominant.
DR   MIM; 619464; phenotype.
DR   MedGen; CN300240.
DR   MeSH; D012804.
//
ID   Sickle cell disease.
AC   DI-02306
AR   SKCA.
DE   Characterized by abnormally shaped red cells resulting in chronic
DE   anemia and periodic episodes of pain, serious infections and damage to
DE   vital organs. Normal red blood cells are round and flexible and flow
DE   easily through blood vessels, but in sickle cell anemia, the abnormal
DE   hemoglobin (called Hb S) causes red blood cells to become stiff. They
DE   are C-shaped and resembles a sickle. These stiffer red blood cells can
DE   led to microvascular occlusion thus cutting off the blood supply to
DE   nearby tissues.
SY   Sickle cell anemia.
DR   MIM; 603903; phenotype.
DR   MedGen; C0002895.
//
ID   Siddiqi syndrome.
AC   DI-05681
AR   SIDDIS.
DE   An autosomal recessive disorder characterized by early-onset
DE   progressive sensorineural hearing impairment, global developmental
DE   delay, regression of motor skills, dystonia, and low body mass index.
DE   Some patients have an ichthosis-like appearance of the skin and signs
DE   of sensory neuropathy.
DR   MIM; 618635; phenotype.
DR   MedGen; CN262532.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-1023:Dystonia.
//
ID   Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.
AC   DI-04261
AR   SIFD.
DE   An autosomal recessive disease characterized by severe sideroblastic
DE   anemia with onset in the neonatal period or infancy, recurrent
DE   periodic fevers without an infectious etiology, B-cell lymphopenia and
DE   hypogammaglobulinemia. Affected individuals show delayed psychomotor
DE   development with variable neurodegeneration. Additional variable
DE   features include sensorineural hearing loss, retinitis pigmentosa,
DE   nephrocalcinosis, and cardiomyopathy.
DR   MIM; 616084; phenotype.
DR   MedGen; CN221134.
DR   MeSH; D000756.
DR   MeSH; D002658.
DR   MeSH; D007153.
DR   MeSH; D056660.
//
ID   Sifrim-Hitz-Weiss syndrome.
AC   DI-04857
AR   SIHIWES.
DE   An autosomal dominant syndrome characterized by intellectual
DE   disability, variable congenital defects affecting cardiac, skeletal,
DE   and urogenital systems. Short stature, macrocephaly, hearing
DE   impairment, and facial dysmorphism are present in some patients.
DR   MIM; 617159; phenotype.
DR   MedGen; CN238765.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Silver-Russell syndrome 1.
AC   DI-02493
AR   SRS1.
DE   A form of Silver-Russell syndrome, a clinically heterogeneous
DE   condition characterized by severe intrauterine growth retardation,
DE   poor postnatal growth, craniofacial features such as a triangular
DE   shaped face and a broad forehead, body asymmetry, and a variety of
DE   minor malformations. The phenotypic expression changes during
DE   childhood and adolescence, with the facial features and asymmetry
DE   usually becoming more subtle with age. SRS1 is caused by epigenetic
DE   changes of DNA hypomethylation at the telomeric imprinting control
DE   region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes.
SY   RSS.
SY   Russell-Silver syndrome.
SY   Silver-Russell dwarfism.
SY   Silver-Russell syndrome.
SY   SRS.
DR   MIM; 180860; phenotype.
DR   MedGen; C0175693.
DR   MeSH; D056730.
KW   KW-0242:Dwarfism.
//
ID   Silver-Russell syndrome 3.
AC   DI-04494
AR   SRS3.
DE   A form of Silver-Russell syndrome, a clinically heterogeneous
DE   condition characterized by severe intrauterine growth retardation,
DE   poor postnatal growth, craniofacial features such as a triangular
DE   shaped face and a broad forehead, body asymmetry, and a variety of
DE   minor malformations. The phenotypic expression changes during
DE   childhood and adolescence, with the facial features and asymmetry
DE   usually becoming more subtle with age. SRS3 inheritance is autosomal
DE   dominant.
SY   GRDF.
SY   Growth restriction, severe, with distinctive facies.
DR   MIM; 616489; phenotype.
DR   MedGen; CN231729.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Silver-Russell syndrome 4.
AC   DI-05850
AR   SRS4.
DE   A form of Silver-Russell syndrome, a clinically heterogeneous
DE   condition characterized by severe intrauterine growth retardation,
DE   poor postnatal growth, craniofacial features such as a triangular
DE   shaped face and a broad forehead, body asymmetry, and a variety of
DE   minor malformations. The phenotypic expression changes during
DE   childhood and adolescence, with the facial features and asymmetry
DE   usually becoming more subtle with age. SRS4 inheritance is autosomal
DE   dominant.
DR   MIM; 618907; phenotype.
DR   MedGen; CN282529.
DR   MeSH; D056730.
KW   KW-0242:Dwarfism.
//
ID   Silver-Russell syndrome 5.
AC   DI-05851
AR   SRS5.
DE   A form of Silver-Russell syndrome, a clinically heterogeneous
DE   condition characterized by severe intrauterine growth retardation,
DE   poor postnatal growth, craniofacial features such as a triangular
DE   shaped face and a broad forehead, body asymmetry, and a variety of
DE   minor malformations. The phenotypic expression changes during
DE   childhood and adolescence, with the facial features and asymmetry
DE   usually becoming more subtle with age. SRS5 inheritance is autosomal
DE   dominant.
DR   MIM; 618908; phenotype.
DR   MedGen; CN282530.
DR   MeSH; D056730.
KW   KW-0242:Dwarfism.
//
ID   Simpson-Golabi-Behmel syndrome 1.
AC   DI-02307
AR   SGBS1.
DE   A condition characterized by pre- and postnatal overgrowth
DE   (gigantism), facial dysmorphism and a variety of inconstant visceral
DE   and skeletal malformations. Characteristic dysmorphic features include
DE   macrocephaly with coarse, distinctive facies with a large protruding
DE   jaw, broad nasal bridge and cleft palate. Cardiac defects are
DE   frequent.
SY   Bulldog syndrome.
SY   DGSX.
SY   Dysplasia gigantism syndrome X-linked.
SY   Golabi-Rosen syndrome.
SY   SDYS.
SY   Simpson dysmorphia syndrome.
DR   MIM; 312870; phenotype.
DR   MedGen; C0796154.
DR   MeSH; D001848.
//
ID   Simpson-Golabi-Behmel syndrome 2.
AC   DI-02750
AR   SGBS2.
DE   A severe variant of Simpson-Golabi-Behmel syndrome, a condition
DE   characterized by pre- and postnatal overgrowth (gigantism), facial
DE   dysmorphism and a variety of inconstant visceral and skeletal
DE   malformations.
DR   MIM; 300209; phenotype.
DR   MedGen; C1846175.
DR   MeSH; D001848.
KW   KW-1186:Ciliopathy.
//
ID   Singleton-Merten syndrome 1.
AC   DI-04386
AR   SGMRT1.
DE   An autosomal dominant disorder with variable expression. Core features
DE   are marked aortic calcification, dental anomalies, osteopenia, acro-
DE   osteolysis, and to a lesser extent glaucoma, psoriasis, muscle
DE   weakness, and joint laxity. Dental anomalies include delayed eruption
DE   and immature root formation of anterior permanent teeth, early loss of
DE   permanent teeth due to short roots, acute root resorption, high
DE   caries, and aggressive alveolar bone loss. Additional clinical
DE   manifestations include particular facial characteristics and abnormal
DE   joint and muscle ligaments.
DR   MIM; 182250; phenotype.
DR   MedGen; C0432254.
DR   MeSH; D001018.
DR   MeSH; D010024.
DR   MeSH; D014071.
DR   MeSH; D030981.
//
ID   Singleton-Merten syndrome 2.
AC   DI-04387
AR   SGMRT2.
DE   A form of Singleton-Merten syndrome, an autosomal dominant disorder
DE   characterized by marked aortic calcification, dental anomalies,
DE   osteopenia, acro-osteolysis, and to a lesser extent glaucoma,
DE   psoriasis, muscle weakness, and joint laxity. Additional clinical
DE   manifestations include particular facial characteristics and abnormal
DE   joint and muscle ligaments. SGMRT2 is an atypical form characterized
DE   by variable expression of glaucoma, aortic calcification, and skeletal
DE   abnormalities, without dental anomalies.
DR   MIM; 616298; phenotype.
DR   MedGen; CN229494.
DR   MeSH; D001018.
DR   MeSH; D010024.
DR   MeSH; D030981.
//
ID   Sinoatrial node dysfunction and deafness.
AC   DI-03562
AR   SANDD.
DE   A disease characterized by congenital severe to profound deafness
DE   without vestibular dysfunction, associated with episodic syncope due
DE   to intermittent pronounced bradycardia.
DR   MIM; 614896; phenotype.
DR   MedGen; C3554018.
DR   MedGen; CN159224.
DR   MeSH; D001146.
KW   KW-0209:Deafness.
//
ID   Sitosterolemia 1.
AC   DI-02308
AR   STSL1.
DE   A form of sitosterolemia, an autosomal recessive metabolic disorder
DE   characterized by unregulated intestinal absorption of cholesterol,
DE   phytosterols and shellfish sterols, and decreased biliary excretion of
DE   dietary sterols into bile. Patients have hypercholesterolemia, very
DE   high levels of plant sterols in the plasma, and frequently develop
DE   tendon and tuberous xanthomas, accelerated atherosclerosis and
DE   premature coronary artery disease.
SY   Phytosterolemia.
SY   Shellfish sterolemia.
DR   MIM; 210250; phenotype.
DR   MedGen; C0342907.
DR   MeSH; D008052.
//
ID   Sitosterolemia 2.
AC   DI-05695
AR   STSL2.
DE   A form of sitosterolemia, an autosomal recessive metabolic disorder
DE   characterized by unregulated intestinal absorption of cholesterol,
DE   phytosterols and shellfish sterols, and decreased biliary excretion of
DE   dietary sterols into bile. Patients have hypercholesterolemia, very
DE   high levels of plant sterols in the plasma, and frequently develop
DE   tendon and tuberous xanthomas, accelerated atherosclerosis and
DE   premature coronary artery disease.
DR   MIM; 618666; phenotype.
DR   MedGen; CN262848.
DR   MeSH; D008052.
//
ID   Sjoegren-Larsson syndrome.
AC   DI-01031
AR   SLS.
DE   An autosomal recessive neurocutaneous disorder characterized by a
DE   combination of severe intellectual disability, spastic di- or
DE   tetraplegia and congenital ichthyosis. Ichthyosis is usually evident
DE   at birth with varying degrees of erythema and scaling, neurologic
DE   symptoms appear in the first or second year of life. Most patients
DE   have an IQ of less than 60. Additional clinical features include
DE   glistening white spots on the retina, seizures, short stature and
DE   speech defects.
DR   MIM; 270200; phenotype.
DR   MedGen; C0037231.
DR   MeSH; D016111.
KW   KW-0977:Ichthyosis.
KW   KW-0991:Intellectual disability.
//
ID   Skeletal defects, genital hypoplasia, and impaired intellectual development.
AC   DI-02310
AR   SGYMR.
DE   A disorder characterized by intellectual disability, craniofacial
DE   dysmorphism, microcephaly and short stature. Additional features
DE   include absence of the thumbs, hypoplasia of the radii and ulnae,
DE   additional vertebrae and ribs, retarded bone age and genital
DE   hypoplasia.
DR   MIM; 612447; phenotype.
DR   MedGen; C2676231.
DR   MeSH; D008607.
DR   MeSH; D009139.
KW   KW-0991:Intellectual disability.
//
ID   Skeletal dysplasia, mild, with joint laxity and advanced bone age.
AC   DI-05830
AR   SDJLABA.
DE   An autosomal recessive disorder characterized by skeletal dysplasia,
DE   short stature, short long bones, advanced bone age, joint laxity, and
DE   facial dysmorphism.
DR   MIM; 618870; phenotype.
DR   MedGen; CN280879.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Skin creases, congenital symmetric circumferential, 1.
AC   DI-04628
AR   CSCSC1.
DE   An autosomal dominant disease characterized by multiple, symmetric,
DE   circumferential rings of folded skin, affecting primarily the limbs.
DE   Affected individuals also exhibit intellectual disability, cleft
DE   palate, and dysmorphic features.
SY   Circumferential skin creases, Kunze type.
SY   Circumferential skin creases Kunze type.
SY   CSC-KT.
SY   Michelin tire baby syndrome.
SY   Multiple benign ring-shaped skin creases of limbs.
SY   Skin creases, multiple benign ring-shaped, of limbs.
DR   MIM; 156610; phenotype.
DR   MedGen; C0473586.
DR   MeSH; D003483.
DR   MeSH; D006222.
DR   MeSH; D012868.
//
ID   Skin creases, congenital symmetric circumferential, 2.
AC   DI-04629
AR   CSCSC2.
DE   An autosomal dominant disease characterized by multiple, symmetric,
DE   circumferential rings of folded skin, affecting primarily the limbs.
DE   Affected individuals also exhibit intellectual disability, cleft
DE   palate, and dysmorphic features.
DR   MIM; 616734; phenotype.
DR   MedGen; CN234753.
DR   MeSH; D003483.
DR   MeSH; D006222.
DR   MeSH; D012868.
//
ID   Skin fragility-woolly hair syndrome.
AC   DI-01032
AR   SFWHS.
DE   An autosomal recessive genodermatosis characterized by skin fragility
DE   with blistering, focal and diffuse palmoplantar keratoderma,
DE   hyperkeratotic plaques on the trunk and limbs, and woolly hair with
DE   varying degrees of alopecia.
DR   MIM; 607655; phenotype.
DR   MedGen; C1843292.
DR   MeSH; D006201.
DR   MeSH; D012873.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Skraban-Deardorff syndrome.
AC   DI-05071
AR   SKDEAS.
DE   An autosomal dominant syndrome characterized by psychomotor
DE   developmental delay, intellectual disability with delayed speech,
DE   febrile and non-febrile seizures, abnormal gait, and facial
DE   dysmorphism. Facial features include a prominent maxilla and upper lip
DE   that readily reveal the upper gingiva, widely spaced teeth, and a
DE   broad nasal tip.
SY   Intellectual disability with seizures, abnormal gait, and distinctive facial features.
DR   MIM; 617616; phenotype.
DR   MedGen; CN399088.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Slowed nerve conduction velocity.
AC   DI-02311
AR   SNCV.
DE   Affected individuals present a reduction in nerve conduction
DE   velocities without any clinical signs of peripheral or central nervous
DE   system dysfunction. SNCV inheritance is autosomal dominant.
DR   MIM; 608236; phenotype.
DR   MedGen; C1842357.
//
ID   Smith-Kingsmore syndrome.
AC   DI-04576
AR   SKS.
DE   An autosomal dominant syndrome characterized by intellectual
DE   disability, macrocephaly, seizures, umbilical hernia, and facial
DE   dysmorphic features.
SY   Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
SY   MINDS syndrome.
DR   MIM; 616638; phenotype.
DR   MedGen; CN233222.
DR   MeSH; D006554.
DR   MeSH; D008607.
DR   MeSH; D012640.
DR   MeSH; D019465.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Smith-Lemli-Opitz syndrome.
AC   DI-01033
AR   SLOS.
DE   An autosomal recessive frequent inborn disorder of sterol metabolism
DE   with characteristic congenital malformations and intellectual
DE   disability. Children with SLOS have elevated serum 7-
DE   dehydrocholesterol (7-DHC) levels and low serum cholesterol levels.
DE   SLOS occurs in relatively high frequency: approximately 1 in 20,000 to
DE   30,000 births in populations of northern and central European
DE   background. Historically, a clinical distinction often was made
DE   between classic ('type I') SLOS and the more severely affected ('type
DE   II') patients. There is, in reality, a clinical and biochemical
DE   continuum from mild to severe SLOS.
SY   RSH syndrome.
SY   Rutledge lethal multiple congenital anomaly syndrome.
SY   SLO syndrome.
DR   MIM; 270400; phenotype.
DR   MedGen; C0175694.
DR   MedGen; C0282644.
DR   MeSH; D019082.
//
ID   Smith-Magenis syndrome.
AC   DI-02313
AR   SMS.
DE   Characterized by intellectual disability associated with development
DE   and growth delays. Affected persons have characteristic behavioral
DE   abnormalities, including self-injurious behaviors and sleep
DE   disturbance, and distinct craniofacial and skeletal anomalies.
DR   MIM; 182290; phenotype.
DR   MedGen; C0795864.
DR   MedGen; C1866927.
//
ID   Smith-McCort dysplasia 1.
AC   DI-01034
AR   SMC1.
DE   A rare autosomal recessive osteochondrodysplasia with skeletal
DE   features identical to those of Dyggve-Melchior-Clausen syndrome, but
DE   with normal intelligence and no microcephaly. It is characterized by
DE   short limbs and trunk with barrel-shaped chest. The radiographic
DE   phenotype includes platyspondyly, generalized abnormalities of the
DE   epiphyses and metaphyses, and a distinctive lacy appearance of the
DE   iliac crest.
SY   SMC.
SY   Smith-McCort dysplasia.
DR   MIM; 607326; phenotype.
DR   MedGen; C1846431.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Smith-McCort dysplasia 2.
AC   DI-03716
AR   SMC2.
DE   A rare autosomal recessive osteochondrodysplasia with skeletal
DE   features identical to those of Dyggve-Melchior-Clausen syndrome, but
DE   with normal intelligence and no microcephaly. It is characterized by
DE   short limbs and trunk with barrel-shaped chest. The radiographic
DE   phenotype includes platyspondyly, generalized abnormalities of the
DE   epiphyses and metaphyses, and a distinctive lacy appearance of the
DE   iliac crest.
DR   MIM; 615222; phenotype.
DR   MedGen; C3714896.
DR   MedGen; CN169378.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Sneddon syndrome.
AC   DI-04206
AR   SNDNS.
DE   An autosomal recessive, systemic non-inflammatory thrombotic
DE   vasculopathy characterized by the association of livedo racemosa, and
DE   in some cases livedo reticularis, with cerebrovascular disease. Livedo
DE   racemosa is a persistent net-like violaceous-cyanotic, mottled
DE   discoloration of the skin affecting the legs, the arms, the buttocks
DE   and the trunk; livedo reticularis is limited to the extremities and is
DE   visible only in the cold. Cerebrovascular features include recurrent
DE   transient ischemic attacks, infarcts, and rarely spinal strokes or
DE   intracranial or subarachnoid hemorrhages. Headache and vertigo may
DE   precede the onset of livedo racemosa and cerebrovascular
DE   manifestations by several years. Rare neurologic symptoms include
DE   seizures, chorea, or myelopathies.
SY   Livedo reticularis and cerebrovascular accidents.
DR   MIM; 182410; phenotype.
DR   MedGen; C0282492.
DR   MeSH; D018860.
//
ID   Snijders Blok-Campeau syndrome.
AC   DI-05430
AR   SNIBCPS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   intellectual disability with a wide range of severity, developmental
DE   delay, and impaired speech and language skills. Speech-related
DE   problems include dysarthria, speech apraxia, oromotor problems, and
DE   stuttering. Additional clinical features are macrocephaly,
DE   characteristic facial features such as prominent forehead and
DE   hypertelorism, hypotonia, and joint laxity.
SY   IDDMSF.
SY   Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies.
DR   MIM; 618205; phenotype.
DR   MedGen; CN257491.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Snijders Blok-Fisher syndrome.
AC   DI-05670
AR   SNIBFIS.
DE   An autosomal dominant neurodevelopmental disorder characterized by
DE   global developmental delay, hypotonia, intellectual disability,
DE   autistic features, impairments in speech and language skills, and
DE   dysmorphic features including abnormal, cupped, or prominent ears and
DE   ocular anomalies.
DR   MIM; 618604; phenotype.
DR   MedGen; CN262354.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Snowflake vitreoretinal degeneration.
AC   DI-02314
AR   SVD.
DE   Developmental and progressive hereditary eye disorder that affects
DE   multiple tissues within the eye. Diagnostic features of SVD include
DE   fibrillar degeneration of the vitreous humor, early-onset cataract,
DE   minute crystalline deposits in the neurosensory retina, and retinal
DE   detachment.
DR   MIM; 193230; phenotype.
DR   MedGen; C1860405.
//
ID   Sodium-dependent multivitamin transporter deficiency.
AC   DI-05892
AR   SMVTD.
DE   An autosomal recessive multisystemic metabolic disorder characterized
DE   by early infantile onset, progressive neurodegeneration, global
DE   developmental delay, and developmental regression with loss of early
DE   motor and cognitive milestones. Additional variable features include
DE   seizures, ataxia, spasticity, peripheral neuropathy, immune defects,
DE   and osteopenia. Treatment with biotin, pantothenic acid, and lipoate
DE   may result in clinical improvement.
SY   NERIB.
SY   Neurodegeneration, infantile-onset, biotin-responsive.
SY   SMVT deficiency.
DR   MIM; 618973; phenotype.
DR   MedGen; CN283310.
DR   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Solitary median maxillary central incisor.
AC   DI-02316
AR   SMMCI.
DE   Rare dental anomaly characterized by the congenital absence of one
DE   maxillary central incisor.
DR   MIM; 147250; phenotype.
DR   MedGen; C1840235.
//
ID   Sorsby fundus dystrophy.
AC   DI-02317
AR   SFD.
DE   Rare autosomal dominant macular disorder with an age of onset in the
DE   fourth decade. It is characterized by loss of central vision from
DE   subretinal neovascularization and atrophy of the ocular tissues.
DE   Generally, macular disciform degeneration develops in the patients eye
DE   within 6 months to 6 years.
SY   Fundus dystrophy, pseudoinflammatory, of Sorsby.
SY   Macular dystrophy, hemorrhagic.
DR   MIM; 136900; phenotype.
DR   MedGen; C1850938.
DR   MeSH; D008268.
//
ID   Sotos syndrome.
AC   DI-02318
AR   SOTOS.
DE   An autosomal dominant, childhood overgrowth syndrome characterized by
DE   pre- and postnatal overgrowth, developmental delay, intellectual
DE   disability, advanced bone age, and abnormal craniofacial morphology
DE   including macrodolichocephaly with frontal bossing, frontoparietal
DE   sparseness of hair, apparent hypertelorism, downslanting palpebral
DE   fissures, and facial flushing. Common oral findings include: premature
DE   eruption of teeth; high, arched palate; pointed chin and, more rarely,
DE   prognathism.
SY   Cerebral gigantism.
SY   Chromosome 5q35 deletion syndrome.
SY   SOTOS1.
SY   Sotos syndrome 1.
DR   MIM; 117550; phenotype.
DR   MedGen; C0175695.
DR   MeSH; D058495.
//
ID   Spastic ataxia 1, autosomal dominant.
AC   DI-04137
AR   SPAX1.
DE   An autosomal dominant form of spastic ataxia, a progressive
DE   neurodegenerative disorder characterized by lower-limb spasticity and
DE   generalized ataxia with dysarthria, impaired ocular movements, and
DE   gait disturbance.
DR   MIM; 108600; phenotype.
DR   MedGen; C1970107.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia 2, autosomal recessive.
AC   DI-04016
AR   SPAX2.
DE   A neurologic disorder characterized by cerebellar ataxia, dysarthria,
DE   and variable spasticity of the lower limbs. Cognition is not affected.
DR   MIM; 611302; phenotype.
DR   MedGen; C1969796.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia 3, autosomal recessive.
AC   DI-04017
AR   SPAX3.
DE   A neurologic disorder characterized by cerebellar ataxia, ataxic gait,
DE   spasticity, and hyperreflexia. Other variable features include
DE   dysarthria, dysmetria, mild cognitive impairment, urinary urgency and
DE   dystonic positioning.
DR   MIM; 611390; phenotype.
DR   MedGen; C1969645.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia 4, autosomal recessive.
AC   DI-02952
AR   SPAX4.
DE   A slowly progressive neurodegenerative disease characterized by
DE   cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.
DR   MIM; 613672; phenotype.
DR   MedGen; C3150925.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia 5, autosomal recessive.
AC   DI-03374
AR   SPAX5.
DE   A neurodegenerative disorder characterized by early onset spasticity,
DE   peripheral neuropathy, ptosis, oculomotor apraxia, dystonia,
DE   cerebellar atrophy, and progressive myoclonic epilepsy.
DR   MIM; 614487; phenotype.
DR   MedGen; C3280977.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.
AC   DI-05033
AR   SPAX8.
DE   An autosomal recessive neurodegenerative disorder characterized by
DE   early-onset hypotonia which progresses to a pyramidal syndrome with
DE   ataxia, spasticity, hyperreflexia, weakness and loss of ambulation.
DE   Brain imaging shows cerebellar atrophy and hypomyelinating
DE   leukodystrophy.
DR   MIM; 617560; phenotype.
DR   MedGen; CN303160.
DR   MeSH; D020279.
KW   KW-0523:Neurodegeneration.
KW   KW-1026:Leukodystrophy.
//
ID   Spastic ataxia 9, autosomal recessive.
AC   DI-05572
AR   SPAX9.
DE   An autosomal recessive disorder characterized by onset of spastic
DE   ataxia in the first years of life. Clinical features include motor
DE   neuropathy, cerebellar atrophy, spastic paraparesis, intellectual
DE   disability, slow ocular saccades, axial hypotonia, distal muscle
DE   weakness and atrophy, and pyramidal symptoms, including hyperreflexia
DE   and extensor plantar responses.
DR   MIM; 618438; phenotype.
DR   MedGen; CN258762.
DR   MeSH; D002524.
DR   MeSH; D015419.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic ataxia Charlevoix-Saguenay type.
AC   DI-01259
AR   SACS.
DE   A neurodegenerative disease characterized by early-onset cerebellar
DE   ataxia, spasticity, retinal hypermyelination, pyramidal signs, and
DE   both axonal and demyelinating neuropathy with loss of sensory nerve
DE   conduction and reduced motor conduction velocities. Other features
DE   include dysarthria, distal muscle wasting, nystagmus, defect in
DE   conjugate pursuit ocular movements, retinal striation (from prominent
DE   retinal nerves) obscuring the retinal blood vessels in places, and the
DE   frequent presence of mitral valve prolapse.
SY   ARSACS.
SY   Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
SY   Spastic ataxia 6, autosomal recessive.
SY   SPAX6.
DR   MIM; 270550; phenotype.
DR   MedGen; C1849140.
DR   MeSH; D002524.
KW   KW-0523:Neurodegeneration.
//
ID   Spastic paraplegia 1, X-linked.
AC   DI-01051
AR   SPG1.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
SY   Spastic paraplegia 1.
DR   MIM; 303350; phenotype.
DR   MedGen; C0795953.
DR   MeSH; D010264.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 10, autosomal dominant.
AC   DI-02319
AR   SPG10.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 604187; phenotype.
DR   MedGen; C1858712.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 11, autosomal recessive.
AC   DI-01045
AR   SPG11.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
SY   ARHSP-TCC.
SY   Autosomal recessive spastic paraplegia with thinning of corpus callosum.
SY   HSP-TCC.
SY   Spastic paraplegia autosomal recessive complicated with thin corpus callosum.
SY   Spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum.
DR   MIM; 604360; phenotype.
DR   MedGen; C1858479.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 12, autosomal dominant.
AC   DI-03410
AR   SPG12.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 604805; phenotype.
DR   MedGen; C1858106.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 13, autosomal dominant.
AC   DI-01039
AR   SPG13.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 605280; phenotype.
DR   MedGen; C1854467.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 15, autosomal recessive.
AC   DI-01046
AR   SPG15.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG15 is a complex
DE   form associated with additional neurological symptoms such as
DE   cognitive deterioration or intellectual disability, axonal neuropathy,
DE   mild cerebellar signs, and, less frequently, a central hearing
DE   deficit, decreased visual acuity, or retinal degeneration.
SY   Kjellin syndrome.
SY   Spastic paraplegia and retinal degeneration.
DR   MIM; 270700; phenotype.
DR   MedGen; C1849128.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 17, autosomal dominant.
AC   DI-01050
AR   SPG17.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG17 is
DE   characterized by prominent amyotrophy of the hand muscles, the
DE   presence of mild to severe pyramidal tract signs and spastic
DE   paraplegia. SPG17 is a motor neuron disease overlapping with distal
DE   spinal muscular atrophy type 5.
SY   Silver spastic paraplegia syndrome.
SY   Silver syndrome.
SY   Spastic paraplegia with amyotrophy of hands and feet.
DR   MIM; 270685; phenotype.
DR   MedGen; C2931276.
DR   MeSH; D010264.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 18A, autosomal dominant.
AC   DI-06770
AR   SPG18A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG18A is a pure
DE   form. Age at onset of symptoms varies considerably from childhood to
DE   adulthood.
DR   MIM; 620512; phenotype.
DR   MedGen; CN375606.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 18B, autosomal recessive.
AC   DI-03411
AR   SPG18B.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG18B is a severe
DE   form with onset in early childhood. Most affected individuals have
DE   severe psychomotor retardation. Some may develop significant joint
DE   contractures.
SY   IDMDC.
SY   Intellectual disability motor dysfunction and joint contractures.
DR   MIM; 611225; phenotype.
DR   MedGen; C2749936.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 2, X-linked.
AC   DI-01052
AR   SPG2.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG2 is characterized
DE   by spastic gait and hyperreflexia. In some patients, complicating
DE   features include nystagmus, dysarthria, sensory disturbance,
DE   intellectual disability, optic atrophy.
SY   Spastic paraplegia 2.
SY   SPPX2.
DR   MIM; 312920; phenotype.
DR   MedGen; C1839264.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 20, autosomal recessive.
AC   DI-01047
AR   SPG20.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG20 is
DE   characterized by dysarthria, distal amyotrophy, mild developmental
DE   delay and short stature.
SY   Spastic paraparesis childhood-onset with distal muscle wasting.
SY   Spastic paraplegia autosomal recessive Troyer type.
SY   Troyer syndrome.
SY   TRS.
DR   MIM; 275900; phenotype.
DR   MedGen; C0393559.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 21, autosomal recessive.
AC   DI-01048
AR   SPG21.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG21 is associated
DE   with dementia and other central nervous system abnormalities. Subtle
DE   childhood abnormalities may be present, but the main features develop
DE   in early adulthood. The disease is slowly progressive, and cerebellar
DE   and extrapyramidal signs are also found in patients with advanced
DE   disease. Patients have a thin corpus callosum and white-matter
DE   abnormalities.
SY   MASTS.
SY   Mast syndrome.
DR   MIM; 248900; phenotype.
DR   MedGen; C1855346.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 23, autosomal recessive.
AC   DI-04976
AR   SPG23.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG23 is an autosomal
DE   recessive form characterized by childhood-onset of gait difficulties
DE   and pigmentary abnormalities, including premature graying of the hair
DE   and vitiligo-like or hyperpigmented skin lesions.
SY   Lison syndrome.
SY   Spastic paraparesis, vitiligo, premature graying, characteristic facies.
SY   Spastic paraplegia with pigmentary abnormalities.
DR   MIM; 270750; phenotype.
DR   MedGen; C0796019.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 26, autosomal recessive.
AC   DI-03866
AR   SPG26.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG26 is a
DE   complicated form characterized by onset in the first 2 decades of life
DE   of gait abnormalities due to lower limb spasticity and muscle
DE   weakness. Some patients have upper limb involvement. Additional
DE   features include intellectual disability, peripheral neuropathy,
DE   dysarthria, cerebellar signs, extrapyramidal signs, and cortical
DE   atrophy. The disorder is slowly progressive.
DR   MIM; 609195; phenotype.
DR   MedGen; C1836632.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 28, autosomal recessive.
AC   DI-03678
AR   SPG28.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. Some SPG28 patients
DE   also have distal sensory impairment.
DR   MIM; 609340; phenotype.
DR   MedGen; C1836295.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 3, autosomal dominant.
AC   DI-01035
AR   SPG3.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
SY   Familial spastic paraplegia autosomal dominant 1.
SY   FSP1.
SY   SPG3A.
SY   Strumpell disease.
SY   Strumpell-Lorrain syndrome.
DR   MIM; 182600; phenotype.
DR   MedGen; C2931355.
DR   MedGen; CN074283.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 30.
AC   DI-03243
AR   SPG30.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. Some SPG30 patients
DE   have a pure form of the disorder, limited to spastic paraplegia,
DE   whereas others may have a complicated form that includes additional
DE   features such as cognitive dysfunction, learning disabilities,
DE   peripheral sensorimotor neuropathy, urinary sphincter problems, and/or
DE   cerebellar atrophy. SPG30 is characterized by onset in the first or
DE   second decades of unsteady spastic gait and hyperreflexia of the lower
DE   limbs. Inheritance can be autosomal dominant or autosomal recessive.
DR   MIM; 610357; phenotype.
DR   MedGen; C1835896.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 31, autosomal dominant.
AC   DI-01040
AR   SPG31.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 610250; phenotype.
DR   MedGen; C1853247.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 33, autosomal dominant.
AC   DI-01041
AR   SPG33.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 610244; phenotype.
DR   MedGen; C1853251.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration.
AC   DI-02936
AR   SPG35.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG35 is a
DE   complicated form characterized by childhood onset of gait
DE   difficulties. It has a rapid progression and many patients become
DE   wheelchair-bound as young adults. Patients manifest cognitive decline
DE   associated with leukodystrophy. Other variable neurologic features,
DE   such as dystonia, optic atrophy, and seizures may also occur.
SY   FAHN.
SY   Fatty acid hydroxylase-associated neurodegeneration.
SY   Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia.
SY   Spastic paraplegia 35, autosomal recessive.
DR   MIM; 612319; phenotype.
DR   MedGen; C2676236.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
KW   KW-1026:Leukodystrophy.
//
ID   Spastic paraplegia 39, autosomal recessive.
AC   DI-01049
AR   SPG39.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG39 is associated
DE   with a motor axonopathy affecting upper and lower limbs and resulting
DE   in progressive wasting of distal upper and lower extremity muscles.
SY   NTEMND.
SY   NTE-related motor neuron disorder.
DR   MIM; 612020; phenotype.
DR   MedGen; C2677586.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 4, autosomal dominant.
AC   DI-01036
AR   SPG4.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
SY   Familial spastic paraplegia autosomal dominant 2.
SY   FSP2.
DR   MIM; 182601; phenotype.
DR   MedGen; C1866855.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 42, autosomal dominant.
AC   DI-01042
AR   SPG42.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 612539; phenotype.
DR   MedGen; C2675528.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 43, autosomal recessive.
AC   DI-03971
AR   SPG43.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SP43 is characterized
DE   by childhood onset of progressive spasticity affecting the lower and
DE   upper limbs.
DR   MIM; 615043; phenotype.
DR   MedGen; CN164738.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 44, autosomal recessive.
AC   DI-02587
AR   SPG44.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 613206; phenotype.
DR   MedGen; C2750784.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 45, autosomal recessive.
AC   DI-04024
AR   SPG45.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. Some SPG45 patients
DE   manifest intellectual disability, contractures and learning
DE   disability.
DR   MIM; 613162; phenotype.
DR   MedGen; C2680447.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 46, autosomal recessive.
AC   DI-03745
AR   SPG46.
DE   A neurodegenerative disorder characterized by onset in childhood of
DE   slowly progressive spastic paraplegia and cerebellar signs. Some
DE   patients have cognitive impairment, cataracts, and cerebral,
DE   cerebellar, and corpus callosum atrophy on brain imaging.
DR   MIM; 614409; phenotype.
DR   MedGen; C2828721.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 47, autosomal recessive.
AC   DI-03145
AR   SPG47.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. SPG47 is characterized by neonatal hypotonia that
DE   progresses to hypertonia and spasticity, and severe intellectual
DE   disability with poor or absent speech development.
SY   Cerebral palsy, spastic quadriplegic 5.
SY   CPSQ5.
DR   MIM; 614066; phenotype.
DR   MedGen; C3279738.
DR   MeSH; D002547.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 48, autosomal recessive.
AC   DI-02933
AR   SPG48.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 613647; phenotype.
DR   MedGen; C3150901.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 50, autosomal recessive.
AC   DI-02560
AR   SPG50.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG50 affected
DE   individuals present postnatally with early infantile hypotonia,
DE   delayed psychomotor development, strabismus, lack of independent
DE   walking and severe intellectual disability. They develop progressive
DE   spasticity of all limbs with generalized hypertonia, hyperreflexia,
DE   and extensor plantar responses by the end of the first year of life.
DE   Speech is absent or limited. Pseudobulbar signs, such as drooling,
DE   stereotypic laughter, and exaggerated jaw jerk, are part of the
DE   clinical picture.
DR   MIM; 612936; phenotype.
DR   MedGen; C2752008.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 51, autosomal recessive.
AC   DI-03061
AR   SPG51.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. SPG51 is a non-progressive disorder of movement
DE   and/or posture resulting from defects in the developing central
DE   nervous system. Affected individuals manifest motor and posture
DE   impairments often associated with epilepsy and disturbances of
DE   cognition, behavior, sensation, and communication.
SY   Cerebral palsy, spastic quadriplegic 4.
SY   CPSQ4.
DR   MIM; 613744; phenotype.
DR   MedGen; C3151056.
DR   MeSH; D002547.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 52, autosomal recessive.
AC   DI-03146
AR   SPG52.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. SPG52 is characterized by neonatal hypotonia that
DE   progresses to hypertonia and spasticity, and severe intellectual
DE   disability with poor or absent speech development. Some patients may
DE   have seizures.
SY   Cerebral palsy, spastic quadriplegic 6.
SY   CPSQ6.
DR   MIM; 614067; phenotype.
DR   MedGen; C3279743.
DR   MeSH; D002547.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 53, autosomal recessive.
AC   DI-03607
AR   SPG53.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. Complicated forms are recognized by
DE   additional variable features including spastic quadriparesis,
DE   seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE   or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE   well as by extra neurological manifestations. SPG53 is characterized
DE   by pronounced early onset spastic paraparesis of upper and lower
DE   limbs, mild intellectual disability, kyphosis, pectus carinatum and
DE   hypertrichosis.
DR   MIM; 614898; phenotype.
DR   MedGen; C3539494.
DR   MedGen; CN160291.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 54, autosomal recessive.
AC   DI-03677
AR   SPG54.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. Complicated forms are recognized by
DE   additional variable features including spastic quadriparesis,
DE   seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE   or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE   well as by extra neurological manifestations. SPG54 patients have
DE   delayed psychomotor development, intellectual disability, and early-
DE   onset spasticity of the lower limbs. Brain MRI shows a thin corpus
DE   callosum and periventricular white matter lesions.
DR   MIM; 615033; phenotype.
DR   MedGen; C3539495.
DR   MedGen; CN164592.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 55, autosomal recessive.
AC   DI-03679
AR   SPG55.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. Complicated forms are recognized by
DE   additional variable features including spastic quadriparesis,
DE   seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE   or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE   well as by extra neurological manifestations.
DR   MIM; 615035; phenotype.
DR   MedGen; C3539506.
DR   MedGen; CN164593.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum.
AC   DI-03680
AR   SPG56.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. Complicated forms are recognized by
DE   additional variable features including spastic quadriparesis,
DE   seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE   or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE   well as by extra neurological manifestations. In SPG56, upper limbs
DE   are often also affected. Some SPG56 patients may have a subclinical
DE   axonal neuropathy; others also have pseudoxanthoma elasticum.
DR   MIM; 615030; phenotype.
DR   MedGen; C3539507.
DR   MedGen; CN164728.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 57, autosomal recessive.
AC   DI-04029
AR   SPG57.
DE   A complicated form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. Complicated forms are recognized by
DE   additional variable features including spastic quadriparesis,
DE   seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral
DE   or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as
DE   well as by extra neurological manifestations.
DR   MIM; 615658; phenotype.
DR   MedGen; C3714897.
DR   MedGen; CN184732.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 5A, autosomal recessive.
AC   DI-01043
AR   SPG5A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 270800; phenotype.
DR   MedGen; C1849115.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 6, autosomal dominant.
AC   DI-01037
AR   SPG6.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
SY   Familial spastic paraplegia autosomal dominant 3.
SY   FSP3.
DR   MIM; 600363; phenotype.
DR   MedGen; C1838192.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 61, autosomal recessive.
AC   DI-04045
AR   SPG61.
DE   A complicated form of spastic paraplegia with polysensory and motor
DE   neuropathy. Spastic paraplegia is a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 615685; phenotype.
DR   MedGen; C3810294.
DR   MedGen; CN184980.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 62, autosomal recessive.
AC   DI-04732
AR   SPG62.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 615681; phenotype.
DR   MedGen; CN236705.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 63, autosomal recessive.
AC   DI-04057
AR   SPG63.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 615686; phenotype.
DR   MedGen; C3810295.
DR   MedGen; CN184981.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 64, autosomal recessive.
AC   DI-04056
AR   SPG64.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 615683; phenotype.
DR   MedGen; C3810289.
DR   MedGen; CN184979.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 7, autosomal recessive.
AC   DI-01044
AR   SPG7.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG7 is a complex
DE   form. Additional clinical features are cerebellar syndrome,
DE   supranuclear palsy, and cognitive impairment, particularly disturbance
DE   of attention and executive functions.
DR   MIM; 607259; phenotype.
DR   MedGen; C1846564.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 70, autosomal recessive.
AC   DI-06655
AR   SPG70.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG70 features may
DE   also include global developmental delay with variably impaired
DE   intellectual development, speech delay, feeding difficulties, and
DE   dysmorphic facial features. SPG70 is characterized by onset of
DE   symptoms in infancy.
DR   MIM; 620323; phenotype.
DR   MedGen; CN327016.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 72A, autosomal dominant.
AC   DI-04028
AR   SPG72A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG72A is a pure form
DE   of spastic paraplegia with onset of difficulty walking and stiff legs
DE   associated with hyperreflexia and extensor plantar responses in early
DE   childhood. Some patients may have pes cavus or sphincter disturbances.
DE   Cognition, speech, and ocular function are normal.
DR   MIM; 615625; phenotype.
DR   MedGen; C3810161.
DR   MedGen; CN184360.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 72B, autosomal recessive.
AC   DI-06768
AR   SPG72B.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG72B is a pure form
DE   of spastic paraplegia with onset of difficulty walking and stiff legs
DE   associated with hyperreflexia and extensor plantar responses in early
DE   childhood. Cognition, speech, and ocular function are normal.
DR   MIM; 620606; phenotype.
DR   MedGen; CN375817.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 73, autosomal dominant.
AC   DI-04364
AR   SPG73.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 616282; phenotype.
DR   MedGen; CN228796.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 74, autosomal recessive.
AC   DI-04475
AR   SPG74.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG74 is
DE   characterized by a combination of spastic paraplegia, optic atrophy,
DE   and peripheral neuropathy with childhood-onset and slow progression
DE   into late adulthood.
DR   MIM; 616451; phenotype.
DR   MedGen; CN231443.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 75, autosomal recessive.
AC   DI-04593
AR   SPG75.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG75 is
DE   characterized by onset in early childhood and is associated with mild
DE   to moderate cognitive impairment.
DR   MIM; 616680; phenotype.
DR   MedGen; CN233361.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 76, autosomal recessive.
AC   DI-04733
AR   SPG76.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 616907; phenotype.
DR   MedGen; CN236413.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 77, autosomal recessive.
AC   DI-04770
AR   SPG77.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 617046; phenotype.
DR   MedGen; CN237808.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 78, autosomal recessive.
AC   DI-04938
AR   SPG78.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 617225; phenotype.
DR   MedGen; CN239936.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 79A, autosomal dominant, with ataxia.
AC   DI-06574
AR   SPG79A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG79A is a slowly
DE   progressive form characterized by late-onset spastic ataxia,
DE   neuropathy, and often optic atrophy.
DR   MIM; 620221; phenotype.
DR   MedGen; CN323172.
DR   MeSH; D015418.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 79B, autosomal recessive.
AC   DI-03925
AR   SPG79B.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG79B is
DE   characterized by childhood onset blindness, cerebellar ataxia,
DE   nystagmus, dorsal column dysfunction, and spasticity with upper motor
DE   neuron dysfunction.
SY   NDGOA.
SY   Neurodegeneration with optic atrophy, childhood-onset.
DR   MIM; 615491; phenotype.
DR   MedGen; C3809665.
DR   MeSH; D015418.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 8, autosomal dominant.
AC   DI-01038
AR   SPG8.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 603563; phenotype.
DR   MedGen; C1863704.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 80, autosomal dominant.
AC   DI-05554
AR   SPG80.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body.
DR   MIM; 618418; phenotype.
DR   MedGen; CN258384.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 81, autosomal recessive.
AC   DI-05755
AR   SPG81.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG81 is a
DE   complicated form characterized by white matter abnormalities,
DE   hypomyelination with progressive white matter loss, delayed motor
DE   development, progressive spasticity, and impaired intellectual
DE   development and speech delay. Additional features may include bifid
DE   uvula, microcephaly, seizures, and variable ocular anomalies.
DR   MIM; 618768; phenotype.
DR   MedGen; CN263276.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 82, autosomal recessive.
AC   DI-05756
AR   SPG82.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG82 is a
DE   complicated form characterized by global developmental delay with
DE   regression, spastic para- or tetraparesis, epilepsy and progressive
DE   cerebral and cerebellar atrophy.
DR   MIM; 618770; phenotype.
DR   MedGen; CN263277.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 83, autosomal recessive.
AC   DI-05923
AR   SPG83.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG83 is
DE   characterized by juvenile onset of progressive lower limb spasticity
DE   resulting in gait instability.
DR   MIM; 619027; phenotype.
DR   MedGen; CN283414.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 84, autosomal recessive.
AC   DI-06273
AR   SPG84.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG84 is
DE   characterized by onset of slowly progressive walking difficulties due
DE   to lower limb weakness, stiffness, and spasticity in the first 2
DE   decades of life.
DR   MIM; 619621; phenotype.
DR   MedGen; CN304704.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 85, autosomal recessive.
AC   DI-06303
AR   SPG85.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG85 is an autosomal
DE   recessive form characterized by onset of motor symptoms in the first
DE   few years of life. Patients may have upper limb involvement and
DE   demonstrate axonal polyneuropathy. Additional features include optic
DE   atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence.
DE   Brain imaging may show cerebellar atrophy.
DR   MIM; 619686; phenotype.
DR   MedGen; CN305737.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 86, autosomal recessive.
AC   DI-06330
AR   SPG86.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG86 is an autosomal
DE   recessive form associated with impaired intellectual development, poor
DE   or absent speech, and behavioral abnormalities. Brain imaging shows
DE   thin corpus callosum and white matter abnormalities. Rare patients may
DE   have seizures.
DR   MIM; 619735; phenotype.
DR   MedGen; CN306413.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 87, autosomal recessive.
AC   DI-06459
AR   SPG87.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG87 is
DE   characterized by onset of lower limb spasticity in infancy or early
DE   childhood, and lack of upper limbs and bulbar regions involvement.
DE   Affected individuals have mildly delayed walking, spastic gait, and
DE   hyperreflexia. Some patients may also have mild intellectual
DE   disability or speech problems.
DR   MIM; 619966; phenotype.
DR   MedGen; CN315824.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 88, autosomal dominant.
AC   DI-06543
AR   SPG88.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG88 is
DE   characterized by onset of symptoms in the first year of life. Most
DE   SPG88 patients have a pure form of the disorder, although rarely
DE   patients may manifest additional features, including peripheral
DE   neuropathy, speech delay, attention deficit hyperactivity disorder,
DE   and non-specific brain imaging abnormalities.
DR   MIM; 620106; phenotype.
DR   MedGen; CN322373.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 89, autosomal recessive.
AC   DI-06689
AR   SPG89.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or weakness and stiffness
DE   may spread to other parts of the body. SPG89 affected individuals show
DE   delayed motor development, abnormal spastic gait, and hyperreflexia of
DE   the lower limbs. Some patients may have mildly impaired intellectual
DE   development or learning difficulties. SPG89 disease onset is in the
DE   first years of life.
DR   MIM; 620379; phenotype.
DR   MedGen; CN371829.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 90A, autosomal dominant.
AC   DI-06702
AR   SPG90A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or weakness and stiffness
DE   may spread to other parts of the body. SPG90A affected individuals
DE   have motor impairment and progressive lower extremity spasticity as
DE   well as neurologic findings, cognitive impairment, and hearing loss.
DR   MIM; 620416; phenotype.
DR   MedGen; CN372196.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 90B, autosomal recessive.
AC   DI-06703
AR   SPG90B.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or weakness and stiffness
DE   may spread to other parts of the body. SPG90B is an autosomal
DE   recessive form characterized by motor impairment and progressive lower
DE   extremity spasticity as well as neurologic findings, cognitive
DE   impairment, and hearing loss.
DR   MIM; 620417; phenotype.
DR   MedGen; CN372197.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 9A, autosomal dominant.
AC   DI-04556
AR   SPG9A.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG9A patients have
DE   gait difficulties, motor neuropathy, and dysarthria. Additional
DE   variable features include cerebellar signs, cataract, pes cavus, and
DE   urinary urgency.
SY   Cataracts with motor neuronopathy, short stature, and skeletal abnormalities.
SY   Spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux.
DR   MIM; 601162; phenotype.
DR   MedGen; C1832669.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia 9B, autosomal recessive.
AC   DI-04557
AR   SPG9B.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPG9B is a complex
DE   form characterized by delayed psychomotor development, intellectual
DE   disability, and severe motor impairment. Dysmorphic facial features,
DE   tremor, and urinary incontinence are variably observed in SPG9B
DE   patients.
DR   MIM; 616586; phenotype.
DR   MedGen; CN233140.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia and psychomotor retardation with or without seizures.
AC   DI-04637
AR   SPPRS.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPPRS is an autosomal
DE   recessive neurodevelopmental disorder manifesting in infancy. Affected
DE   individuals show hypotonia and psychomotor retardation. Most develop
DE   seizures.
DR   MIM; 616756; phenotype.
DR   MedGen; CN235103.
DR   MeSH; D015419.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic paraplegia, intellectual disability, nystagmus, and obesity.
AC   DI-04932
AR   SINO.
DE   An autosomal dominant syndrome characterized by rapid growth in
DE   infancy, obesity, global developmental delay, intellectual disability,
DE   spastic paraplegia, ocular defects, and dysmorphic facial features.
DR   MIM; 617296; phenotype.
DR   MedGen; CN239947.
DR   MeSH; D000015.
KW   KW-0550:Obesity.
KW   KW-0890:Hereditary spastic paraplegia.
KW   KW-0991:Intellectual disability.
//
ID   Spastic paraplegia, optic atrophy, and neuropathy.
AC   DI-04659
AR   SPOAN.
DE   A form of spastic paraplegia, a neurodegenerative disorder
DE   characterized by a slow, gradual, progressive weakness and spasticity
DE   of the lower limbs. Rate of progression and the severity of symptoms
DE   are quite variable. Initial symptoms may include difficulty with
DE   balance, weakness and stiffness in the legs, muscle spasms, and
DE   dragging the toes when walking. In some forms of the disorder, bladder
DE   symptoms (such as incontinence) may appear, or the weakness and
DE   stiffness may spread to other parts of the body. SPOAN is
DE   characterized by spastic paraplegia with progressive joint
DE   contractures and spine deformities, loss of independent ambulation by
DE   age 10 years, sub-normal vision secondary to congenital optic atrophy,
DE   and neuropathy. Inheritance is autosomal recessive.
DR   MIM; 609541; phenotype.
DR   MedGen; C1836010.
DR   MeSH; D015419.
KW   KW-0622:Neuropathy.
KW   KW-0890:Hereditary spastic paraplegia.
//
ID   Spastic tetraplegia and axial hypotonia, progressive.
AC   DI-05666
AR   STAHP.
DE   An autosomal recessive, neurologic disorder characterized by loss of
DE   motor abilities in the first year of life, after which severe,
DE   progressive spastic tetraparesis develops. Affected individuals have
DE   severe axial hypotonia, hyperekplexia, hypertonia, and myokymia,
DE   reflecting upper motor neuron involvement. Cognitive development may
DE   be affected.
SY   SOD1 deficiency, autosomal recessive.
DR   MIM; 618598; phenotype.
DR   MedGen; CN262331.
DR   MeSH; D011782.
//
ID   Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.
AC   DI-04580
AR   SPATCCM.
DE   A neurodevelopmental disorder characterized by thin corpus callosum,
DE   severe progressive microcephaly, severe intellectual disability,
DE   seizures, spasticity, and global developmental delay. Most patients
DE   are unable to achieve independent walking or speech.
DR   MIM; 616657; phenotype.
DR   MedGen; CN233337.
DR   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D011782.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Spasticity, childhood-onset, with hyperglycinemia.
AC   DI-04680
AR   SPAHGC.
DE   An autosomal recessive disorder characterized by childhood-onset of
DE   spasticity, spinal lesions, leukodystrophy, optic atrophy in some
DE   patients, non-ketotic hyperglycinemia, and defective enzymatic glycine
DE   cleavage. Glycine levels in the cerebrospinal fluid are mildly
DE   increased in some but not all patients. The increase is less
DE   pronounced than in patients with classic non-ketotic hyperglycinemia.
DR   MIM; 616859; phenotype.
DR   MedGen; CN235584.
DR   MeSH; D020158.
//
ID   Specific granule deficiency 1.
AC   DI-04999
AR   SGD1.
DE   An immunologic disorder characterized by recurrent pyogenic
DE   infections, defective neutrophil chemotaxis and bactericidal activity,
DE   and lack of neutrophil secondary granule proteins. Neutrophils of
DE   affected individuals lack lactoferrin and show abnormal nuclear
DE   segmentation, bilobed nuclei, low alkaline phosphatase, and increased
DE   number of neutrophil mitochondria and ribosomes. SGD1 inheritance can
DE   be autosomal dominant or recessive.
DR   MIM; 245480; phenotype.
DR   MedGen; C0398593.
DR   MeSH; D007960.
//
ID   Specific granule deficiency 2.
AC   DI-05000
AR   SGD2.
DE   A form of specific granule deficiency, an autosomal recessive disorder
DE   characterized by recurrent pyogenic infections, defective neutrophil
DE   chemotaxis and bactericidal activity, and lack of neutrophil secondary
DE   granule proteins. SGD2 is due to defective neutrophil development.
DE   Bone marrow findings include hypercellularity, abnormal
DE   megakaryocytes, and features of progressive myelofibrosis with blasts.
DE   Some patients may have additional findings, including delayed
DE   development, mild dysmorphic features, and distal skeletal anomalies.
DR   MIM; 617475; phenotype.
DR   MedGen; CN244006.
DR   MeSH; D007960.
//
ID   Specific language impairment 5.
AC   DI-03910
AR   SLI5.
DE   A disorder characterized by a delay in early speech acquisition. It is
DE   usually associated with cerebral white matter abnormalities on brain
DE   MRI. Some individuals may show disorders in communication, consistent
DE   with autism spectrum disorder, or global developmental delay, although
DE   others ultimately show normal cognitive function. Penetrance is
DE   incomplete and expressivity is variable.
DR   MIM; 615432; phenotype.
DR   MedGen; C3809483.
DR   MedGen; CN180183.
DR   MeSH; D007805.
KW   KW-1268:Autism spectrum disorder.
//
ID   Speech-language disorder 1.
AC   DI-02320
AR   SPCH1.
DE   A disorder characterized by severe orofacial dyspraxia resulting in
DE   largely incomprehensible speech. Affected individuals have severe
DE   impairment in the selection and sequencing of fine orofacial movements
DE   which are necessary for articulation, and deficits in several facets
DE   of grammatical skills and language processing, such as the ability to
DE   break up words into their constituent phonemes.
SY   Autosomal dominant speech and language disorder with orofacial dyspraxia.
SY   CAS.
SY   Childhood apraxia of speech.
SY   Developmental verbal dyspraxia.
SY   DVD.
DR   MIM; 602081; phenotype.
DR   MedGen; C0750927.
DR   MedGen; CN032592.
DR   MeSH; D001072.
DR   MeSH; D013064.
//
ID   Spermatogenic failure 1.
AC   DI-05773
AR   SPGF1.
DE   An infertility disorder characterized by azoospermia due to
DE   spermatogenic arrest during meiosis. Meiotic arrest is characterized
DE   by germ cells that enter meiosis and undergo the first chromosomal
DE   reduction from 4n to 2n, but that are then unable to proceed further.
DE   This results in tubules containing spermatocytes as the latest
DE   developmental stage of germ cells. Meiotically arrested spermatocytes
DE   accumulate in the tubules and degenerate. Both autosomal recessive and
DE   autosomal dominant inheritance have been reported.
SY   Oligochiasmic infertility.
SY   Oligosynaptic infertility.
DR   MIM; 258150; phenotype.
DR   MedGen; C0403810.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 10.
AC   DI-03528
AR   SPGF10.
DE   An infertility disorder caused by spermatogenesis defects. It results
DE   in decreased sperm motility, concentration, and multiple sperm
DE   structural defects. The most prominent feature is a defective sperm
DE   annulus, a ring structure that demarcates the midpiece and the
DE   principal piece of the sperm tail.
SY   Spermatogenic failure with defective sperm annulus.
DR   MIM; 614822; phenotype.
DR   MedGen; C3553793.
DR   MedGen; CN143723.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 11.
AC   DI-03655
AR   SPGF11.
DE   An infertility disorder caused by spermatogenesis defects. It results
DE   in decreased sperm motility, concentration, and multiple sperm
DE   structural defects. Oligozoospermia is usually observed in SPGF11
DE   patients. In addition to oligozoospermia, teratozoospermia and
DE   moderate asthenozoospermia is observed in some cases.
DR   MIM; 615081; phenotype.
DR   MedGen; C3554453.
DR   MedGen; CN165619.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 12.
AC   DI-03877
AR   SPGF12.
DE   An infertility disorder caused by spermatogenesis defects. It results
DE   in decreased sperm motility, concentration, and multiple sperm
DE   structural defects. Non-obstructive azoospermia, oligozoospermia and
DE   oligo-astheno-teratozoospermia are features observed in SPGF12
DE   patients.
DR   MIM; 615413; phenotype.
DR   MedGen; C3809427.
DR   MedGen; CN180042.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 13.
AC   DI-04119
AR   SPGF13.
DE   A disorder resulting in the absence (azoospermia) or reduction
DE   (oligozoospermia) of sperm in the semen, leading to male infertility.
DR   MIM; 615841; phenotype.
DR   MedGen; CN188726.
DR   MeSH; D009845.
DR   MeSH; D053713.
//
ID   Spermatogenic failure 14.
AC   DI-04124
AR   SPGF14.
DE   A disorder resulting in the absence (azoospermia) or reduction
DE   (oligozoospermia) of sperm in the semen, leading to male infertility.
DR   MIM; 615842; phenotype.
DR   MedGen; CN188727.
DR   MeSH; D009845.
DR   MeSH; D053713.
//
ID   Spermatogenic failure 16.
AC   DI-04878
AR   SPGF16.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by abnormally shaped spermatozoa in the semen of
DE   affected individuals. Most spermatozoa are made up of headless tails,
DE   while a small proportion has an abnormal head-tail junction. A few
DE   spermatozoa are made up of tailless heads.
SY   Acephalic spermatozoa syndrome.
DR   MIM; 617187; phenotype.
DR   MedGen; CN239047.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 17.
AC   DI-04868
AR   SPGF17.
DE   An autosomal recessive infertility disorder due to failure of oocyte
DE   activation and fertilization by sperm that otherwise exhibits normal
DE   morphology.
SY   Male infertility due to oocyte activation failure.
DR   MIM; 617214; phenotype.
DR   MedGen; CN239094.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 18.
AC   DI-05027
AR   SPGF18.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by abnormally shaped spermatozoa in the semen of
DE   affected individuals. SPGF18 patients present with primary infertility
DE   and multiple morphological abnormalities of sperm flagella that result
DE   in impaired sperm mobility. Abnormalities include absent, short,
DE   coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal
DE   recessive.
DR   MIM; 617576; phenotype.
DR   MedGen; CN337166.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 19.
AC   DI-05026
AR   SPGF19.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by abnormally shaped spermatozoa in the semen of
DE   affected individuals. SPGF19 patients have spermatozoa with absent,
DE   short, coiled, bent, and/or irregular-caliber flagella, which impair
DE   sperm motility.
DR   MIM; 617592; phenotype.
DR   MedGen; CN349872.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 2.
AC   DI-06451
AR   SPGF2.
DE   An autosomal recessive disorder characterized by male infertility due
DE   to non-obstructive azoospermia. Testicular histopathology reveals no
DE   round spermatids or spermatozoa in the seminiferous tubules of SPGF2
DE   patients, consistent with meiotic arrest.
DR   MIM; 108420; phenotype.
DR   MedGen; C1862459.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 20.
AC   DI-05028
AR   SPGF20.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by abnormally shaped spermatozoa in the semen of
DE   affected individuals. SPGF20 patients have spermatozoa with absent,
DE   short, coiled, bent, and/or irregular-caliber flagella, which impair
DE   sperm motility.
DR   MIM; 617593; phenotype.
DR   MedGen; CN349873.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 21.
AC   DI-05077
AR   SPGF21.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by acephalic spermatozoa in the semen of affected
DE   individuals. SPGF21 inheritance is autosomal recessive.
DR   MIM; 617644; phenotype.
DR   MedGen; CN424852.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 22.
AC   DI-05083
AR   SPGF22.
DE   An infertility disorder caused by spermatogenesis defects that result
DE   in non-obstructive azoospermia.
DR   MIM; 617706; phenotype.
DR   MedGen; CN502747.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 23.
AC   DI-05085
AR   SPGF23.
DE   An infertility disorder caused by spermatogenesis defects that result
DE   in non-obstructive azoospermia.
DR   MIM; 617707; phenotype.
DR   MedGen; CN502748.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 24.
AC   DI-05256
AR   SPGF24.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in multiple morphologic abnormalities of the
DE   flagella, including absent, short, coiled, bent, and irregular-caliber
DE   flagella. Malformations of the sperm head have also been observed. In
DE   addition, patients exhibit very low sperm concentrations and total
DE   sperm counts per ejaculate.
DR   MIM; 617959; phenotype.
DR   MedGen; CN244570.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 25.
AC   DI-05242
AR   SPGF25.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in severe oligozoospermia or azoospermia.
DR   MIM; 617960; phenotype.
DR   MedGen; CN244572.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 26.
AC   DI-05243
AR   SPGF26.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in acephalic spermatozoa.
DR   MIM; 617961; phenotype.
DR   MedGen; CN244573.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 27.
AC   DI-05244
AR   SPGF27.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in multiple morphologic abnormalities of the sperm
DE   flagella, including short, irregular, coiled, or absent flagella.
DR   MIM; 617965; phenotype.
DR   MedGen; CN244916.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 28.
AC   DI-05308
AR   SPGF28.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in oligoasthenospermia or non-obstructive
DE   azoospermia.
DR   MIM; 618086; phenotype.
DR   MedGen; CN252694.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 29.
AC   DI-05313
AR   SPGF29.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in non-obstructive azoospermia or oligozoospermia.
DE   When produced, spermatozoa are immotile and have abnormal morphology,
DE   primarily defects of the acrosome and head-neck junction.
DR   MIM; 618091; phenotype.
DR   MedGen; CN252705.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 3.
AC   DI-03796
AR   SPGF3.
DE   A disorder characterized by primary infertility, sperm morphologic
DE   abnormalities, and moderate to severe asthenozoospermia, condition in
DE   which the percentage of progressively motile sperm is abnormally low.
DR   MIM; 606766; phenotype.
DR   MedGen; C1847540.
DR   MeSH; D053627.
//
ID   Spermatogenic failure 30.
AC   DI-05324
AR   SPGF30.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in non-obstructive azoospermia or
DE   cryptozoospermia.
DR   MIM; 618110; phenotype.
DR   MedGen; CN253819.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 31.
AC   DI-05314
AR   SPGF31.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in oligozoospermia with a high proportion of
DE   acephalic sperm.
DR   MIM; 618112; phenotype.
DR   MedGen; CN253820.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 32.
AC   DI-05325
AR   SPGF32.
DE   An autosomal dominant infertility disorder caused by spermatogenesis
DE   defects that result in non-obstructive azoospermia.
DR   MIM; 618115; phenotype.
DR   MedGen; CN253828.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 33.
AC   DI-05350
AR   SPGF33.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in multiple abnormalities of sperm flagellum,
DE   including short, bent, curled, thick, or absent flagella.
DR   MIM; 618152; phenotype.
DR   MedGen; CN257742.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 34.
AC   DI-05351
AR   SPGF34.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in multiple abnormalities of sperm flagellum,
DE   including irregular-caliber, short, coiled, or absent flagella.
DR   MIM; 618153; phenotype.
DR   MedGen; CN257743.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 35.
AC   DI-05484
AR   SPGF35.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects that result in multiple abnormalities of sperm flagellum and
DE   severely impaired spermatozoa motility.
DR   MIM; 618341; phenotype.
DR   MedGen; CN258225.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 36.
AC   DI-05555
AR   SPGF36.
DE   An autosomal dominant infertility disorder due to teratozoospermia,
DE   with spermatozoa showing anomalies of the head, acrosome, and nucleus.
DR   MIM; 618420; phenotype.
DR   MedGen; CN258375.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 37.
AC   DI-05556
AR   SPGF37.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE   abnormalities, primarily consisting of short or absent flagella, and
DE   neck defects at the head-tail junction.
DR   MIM; 618429; phenotype.
DR   MedGen; CN258386.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 38.
AC   DI-05557
AR   SPGF38.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE   abnormalities including short, absent, coiled, bent, or irregular-
DE   caliber flagella.
DR   MIM; 618433; phenotype.
DR   MedGen; CN258390.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 39.
AC   DI-05668
AR   SPGF39.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE   anomalies including short, absent, irregularly shaped and coiled
DE   flagella, and abnormalities of the head and midpiece.
DR   MIM; 618643; phenotype.
DR   MedGen; CN263107.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 4.
AC   DI-02748
AR   SPGF4.
DE   An infertility disorder characterized by azoospermia, a condition of
DE   having no sperm present in the ejaculate. Testicular histology shows
DE   arrest of spermatogenesis at the pachytene stage of primary
DE   spermatocytes.
SY   Azoospermia due to perturbations of meiosis.
SY   Azoospermia with maturation arrest.
SY   Spermatogenesis arrest.
DR   MIM; 270960; phenotype.
DR   MedGen; C0232981.
DR   MedGen; C3279437.
DR   MeSH; D053713.
//
ID   Spermatogenic failure 40.
AC   DI-05693
AR   SPGF40.
DE   An autosomal recessive infertility disorder characterized by severely
DE   reduced or absent sperm motility, due to multiple morphologic
DE   anomalies such as absent, short, bent, coiled and irregular-caliber
DE   tails. Patient spermatozoa may also show morphologic defects of the
DE   sperm head.
DR   MIM; 618664; phenotype.
DR   MedGen; CN262872.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 41.
AC   DI-05694
AR   SPGF41.
DE   An autosomal recessive infertility disorder characterized by
DE   oligozoospermia, severe asthenozoospermia and flagellar abnormalities
DE   such as short, absent, coiled, and irregular-caliber flagella. Some
DE   sperm show tapered heads and acrosomal abnormalities.
DR   MIM; 618670; phenotype.
DR   MedGen; CN262873.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 42.
AC   DI-05739
AR   SPGF42.
DE   An autosomal recessive infertility disorder characterized by almost
DE   immotile spermatozoa due to multiple morphologic abnormalities of the
DE   flagella, including short, absent, coiled, and bent flagella. Some
DE   spermatozoa also show abnormalities of the head, acrosome, midpiece,
DE   or endpiece.
DR   MIM; 618745; phenotype.
DR   MedGen; CN263203.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 43.
AC   DI-05740
AR   SPGF43.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenospermia due to multiple morphologic abnormalities of sperm
DE   flagella, including short, absent, coiled, and bent flagella.
DR   MIM; 618751; phenotype.
DR   MedGen; CN263214.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 44.
AC   DI-05927
AR   SPGF44.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects and characterized by the presence of acephalic spermatozoa in
DE   the semen of affected individuals.
DR   MIM; 619044; phenotype.
DR   MedGen; CN293344.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 45.
AC   DI-05965
AR   SPGF45.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects resulting in severe teratozoospermia. SPGF45 is characterized
DE   by multiple morphologic abnormalities of spermatozoa flagella. Some
DE   spermatozoa also show abnormalities of the head.
DR   MIM; 619094; phenotype.
DR   MedGen; CN293455.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 46.
AC   DI-05966
AR   SPGF46.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects resulting in asthenoteratozoospermia. SPGF46 is characterized
DE   by multiple morphologic abnormalities of sperm flagella with
DE   disorganization of axonemal and periaxonemal structures. Flagella are
DE   absent, short, coiled, angulated, and/or of irregular caliber.
DR   MIM; 619095; phenotype.
DR   MedGen; CN293456.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 47.
AC   DI-05967
AR   SPGF47.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects resulting in asthenoteratozoospermia. SPGF47 is characterized
DE   by reduced sperm concentrations and immotile spermatozoa, with short
DE   or absent flagella as well as centriolar abnormalities.
DR   MIM; 619102; phenotype.
DR   MedGen; CN293511.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 48.
AC   DI-05968
AR   SPGF48.
DE   An autosomal recessive infertility disorder caused by spermatogenesis
DE   defects resulting in non-obstructive azoospermia.
DR   MIM; 619108; phenotype.
DR   MedGen; CN293534.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 49.
AC   DI-05976
AR   SPGF49.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenoteratozoospermia and multiple morphologic abnormalities of the
DE   sperm flagella, primarily coiled and short flagella, with markedly
DE   reduced or absent motility.
DR   MIM; 619144; phenotype.
DR   MedGen; CN293615.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 5.
AC   DI-01927
AR   SPGF5.
DE   An infertility disorder caused by spermatogenesis defects. Semen from
DE   affected men show close to 100% morphologically abnormal
DE   multiflagellar spermatozoa with low motility, oversized irregular
DE   heads, and abnormal midpiece and acrosome.
SY   Infertility associated with multi-tailed spermatozoa and excessive DNA.
SY   Male infertility with large-headed multiflagellar polyploid spermatozoa.
DR   MIM; 243060; phenotype.
DR   MedGen; C0403812.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 50.
AC   DI-05977
AR   SPGF50.
DE   An autosomal recessive infertility disorder characterized by
DE   azoospermia due to meiotic arrest at the zygotene stage of prophase I.
DR   MIM; 619145; phenotype.
DR   MedGen; CN293616.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 51.
AC   DI-06022
AR   SPGF51.
DE   An autosomal recessive infertility disorder characterized by
DE   asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic
DE   abnormalities, including absent, short, bent, coiled and irregular-
DE   caliber flagella. Abnormalities of the sperm head, base, and acrosome
DE   have also been observed.
DR   MIM; 619177; phenotype.
DR   MedGen; CN295265.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 52.
AC   DI-06021
AR   SPGF52.
DE   An autosomal recessive infertility disorder characterized by
DE   azoospermia due to meiotic arrest at the spermatocyte stage.
DR   MIM; 619202; phenotype.
DR   MedGen; CN295301.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 53.
AC   DI-06072
AR   SPGF53.
DE   An autosomal recessive infertility disorder characterized by impaired
DE   oocyte fertilization due to oocyte activation failure, in association
DE   with structural anomalies in sperm heads.
DR   MIM; 619258; phenotype.
DR   MedGen; CN296166.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 54.
AC   DI-06144
AR   SPGF54.
DE   An autosomal recessive male infertility disorder characterized by
DE   oligoteratoasthenozoospermia.Semen analysis shows markedly reduced
DE   sperm counts and severely reduced or absent sperm motility.
DR   MIM; 619379; phenotype.
DR   MedGen; CN297469.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 55.
AC   DI-06145
AR   SPGF55.
DE   An autosomal recessive male infertility disorder characterized by
DE   asthenozoospermia.Semen analysis shows severely reduced sperm
DE   motility.
DR   MIM; 619380; phenotype.
DR   MedGen; CN297470.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 56.
AC   DI-06189
AR   SPGF56.
DE   An autosomal recessive male infertility disorder characterized by
DE   severely reduced sperm motility, due to multiple morphologic
DE   abnormalities of the flagella.
DR   MIM; 619515; phenotype.
DR   MedGen; CN300395.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 57.
AC   DI-06188
AR   SPGF57.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia, due to error-prone meiosis and spermatogenic
DE   arrest at the late pachytene stage.
DR   MIM; 619528; phenotype.
DR   MedGen; CN300452.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 58.
AC   DI-06203
AR   SPGF58.
DE   An autosomal recessive male infertility disorder characterized by
DE   absent or severely reduced sperm motility, due to multiple
DE   morphological abnormalities of the sperm flagellum.
DR   MIM; 619585; phenotype.
DR   MedGen; CN301082.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 59.
AC   DI-06204
AR   SPGF59.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia, due to sperm maturation arrest.
DR   MIM; 619645; phenotype.
DR   MedGen; CN305050.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 6.
AC   DI-01666
AR   SPGF6.
DE   An infertility disorder caused by spermatogenesis defects. The most
DE   prominent feature is the malformation of the acrosome, which can be
DE   totally absent in most severe cases. Additional features are an
DE   abnormal nuclear shape and abnormal arrangement of the mitochondria of
DE   the spermatozoon.
SY   Acrosome malformation of spermatozoa.
SY   Globozoospermia.
SY   Round-headed spermatozoa.
DR   MIM; 102530; phenotype.
DR   MedGen; C0403825.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 60.
AC   DI-06205
AR   SPGF60.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia, due to sperm maturation arrest before the
DE   pachytene stage.
DR   MIM; 619646; phenotype.
DR   MedGen; CN305321.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 61.
AC   DI-06206
AR   SPGF61.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia, due to complete meiotic arrest at the primary
DE   spermatocyte stage.
DR   MIM; 619672; phenotype.
DR   MedGen; CN305322.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 62.
AC   DI-06207
AR   SPGF62.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia, due to complete metaphase arrest at the
DE   spermatocyte stage.
DR   MIM; 619673; phenotype.
DR   MedGen; CN305323.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 63.
AC   DI-06208
AR   SPGF63.
DE   An autosomal recessive male infertility disorder characterized by
DE   severe oligozoospermia and reduced progressive sperm motility.
DR   MIM; 619689; phenotype.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 64.
AC   DI-06306
AR   SPGF64.
DE   An autosomal recessive male infertility disorder characterized by
DE   oligoasthenoteratozoospermia or non-obstructive azoospermia. Some
DE   patients have absent sperm due to meiotic arrest at the diplotene
DE   stage. Others show low sperm counts and reduced progressive motility.
DR   MIM; 619696; phenotype.
DR   MedGen; CN305740.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 65.
AC   DI-06307
AR   SPGF65.
DE   An autosomal recessive male infertility disorder characterized by
DE   asthenoteratozoospermia. Progressive sperm motility is severely
DE   reduced or absent due to multiple morphologic abnormalities of the
DE   flagella.
DR   MIM; 619712; phenotype.
DR   MedGen; CN306027.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 66.
AC   DI-06369
AR   SPGF66.
DE   An autosomal recessive male infertility disorder characterized by
DE   globozoospermia. Affected individuals have a normal sperm count, but
DE   spermatozoa are round-headed and lack the acrosome. In addition to
DE   pure globozoospermia, some patients have a mixture of acrosomeless
DE   spermatozoa and spermatozoa with small or detached acrosomes, which is
DE   defined as acrosomal hypoplasia.
DR   MIM; 619799; phenotype.
DR   MedGen; CN307060.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 67.
AC   DI-06370
AR   SPGF67.
DE   An autosomal recessive male infertility disorder characterized by
DE   globozoospermia. Affected individuals have a normal sperm count, but
DE   spermatozoa are round-headed and lack the acrosome. In addition to
DE   pure globozoospermia, some patients have a mixture of acrosomeless
DE   spermatozoa and spermatozoa with small or detached acrosomes, which is
DE   defined as acrosomal hypoplasia.
DR   MIM; 619803; phenotype.
DR   MedGen; CN307171.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 68.
AC   DI-06371
AR   SPGF68.
DE   An autosomal recessive male infertility disorder characterized by
DE   globozoospermia. Affected individuals have a normal sperm count, but
DE   spermatozoa are round-headed and lack the acrosome. In addition to
DE   pure globozoospermia, some patients have a mixture of acrosomeless
DE   spermatozoa and spermatozoa with small or detached acrosomes, which is
DE   defined as acrosomal hypoplasia.
DR   MIM; 619805; phenotype.
DR   MedGen; CN307172.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 69.
AC   DI-06390
AR   SPGF69.
DE   An autosomal recessive male infertility disorder characterized by low
DE   sperm concentrations, globozoospermia, and absence of sperm acrosome.
DR   MIM; 619826; phenotype.
DR   MedGen; CN307965.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 7.
AC   DI-02565
AR   SPGF7.
DE   An infertility disorder characterized by non-motile sperm or sperm
DE   motility below the normal threshold, low sperm count, increased
DE   abnormally structured spermatozoa, and reduced semen volume.
SY   Male infertility non-syndromic autosomal recessive.
SY   MIAR.
DR   MIM; 612997; phenotype.
DR   MedGen; C2751811.
DR   MeSH; D053627.
//
ID   Spermatogenic failure 70.
AC   DI-06391
AR   SPGF70.
DE   An autosomal recessive male infertility disorder characterized by
DE   azoospermia, sperm immotility or necrozoospermia. Hypospermatogenesis
DE   and meiotic arrest have also been observed.
DR   MIM; 619828; phenotype.
DR   MedGen; CN307996.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 71.
AC   DI-06392
AR   SPGF71.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia.
DR   MIM; 619831; phenotype.
DR   MedGen; CN308000.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 72.
AC   DI-06415
AR   SPGF72.
DE   An autosomal recessive male infertility disorder characterized by
DE   asthenoteratospermia and multiple morphologic abnormalities of the
DE   flagella, including coiled, short, angulated, absent, and irregular-
DE   caliber flagella, resulting in absent sperm motility.
DR   MIM; 619867; phenotype.
DR   MedGen; CN312023.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 73.
AC   DI-06416
AR   SPGF73.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia due to meiotic arrest.
DR   MIM; 619878; phenotype.
DR   MedGen; CN312036.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 74.
AC   DI-06417
AR   SPGF74.
DE   An autosomal recessive male infertility disorder characterized by non-
DE   obstructive azoospermia due to complete meiotic arrest at the
DE   spermatocyte zygotene or pachytene stage. Some men exhibit reduced
DE   testicular volume and/or reduced testosterone level.
DR   MIM; 619937; phenotype.
DR   MedGen; CN315601.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 75.
AC   DI-06452
AR   SPGF75.
DE   An autosomal recessive disorder characterized by male infertility due
DE   to non-obstructive azoospermia resulting from maturation arrest at the
DE   spermatocyte stage.
DR   MIM; 619949; phenotype.
DR   MedGen; CN315673.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 76.
AC   DI-06529
AR   SPGF76.
DE   An autosomal recessive male infertility disorder characterized by
DE   oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the
DE   semen of affected individuals. Sperm flagella have multiple
DE   morphological abnormalities, including short, absent, and irregular
DE   caliber flagella.
DR   MIM; 620084; phenotype.
DR   MedGen; CN322310.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 77.
AC   DI-06530
AR   SPGF77.
DE   An autosomal recessive male infertility disorder characterized by
DE   oligozoospermia or azoospermia, and abnormally shaped spermatozoa in
DE   the semen of affected individuals. Sperm abnormalities include double
DE   and triple tails, with amorphous or fragmented and enlarged heads, as
DE   well as pinhead sperm. Testicular tissue shows arrest at the round
DE   spermatid stage.
DR   MIM; 620103; phenotype.
DR   MedGen; CN322363.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 78.
AC   DI-06569
AR   SPGF78.
DE   An autosomal recessive, male infertility disorder characterized by a
DE   high proportion of sperm head anomalies, primarily tapered and
DE   microcephalic heads, and an abnormal acrosome structure.
DR   MIM; 620170; phenotype.
DR   MedGen; CN322644.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 79.
AC   DI-06579
AR   SPGF79.
DE   An autosomal recessive, male infertility disorder characterized by
DE   asthenoteratozoospermia with acrosome hypoplasia, disruption of the
DE   mitochondrial sheath, and reduced progressive sperm motility. The
DE   disorder is due to an abnormal acrosome reaction and impaired membrane
DE   potential after capacitation.
DR   MIM; 620196; phenotype.
DR   MedGen; CN322769.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 8.
AC   DI-03124
AR   SPGF8.
DE   An infertility disorder characterized by spermatogenesis failure and
DE   severe oligozoospermia.
DR   MIM; 613957; phenotype.
DR   MedGen; C3151406.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 80.
AC   DI-06580
AR   SPGF80.
DE   An autosomal recessive, male infertility disorder characterized by
DE   reduced or absent progressive sperm motility due to multiple
DE   morphologic abnormalities of the flagella, including short, coiled,
DE   absent, and irregular-caliber flagella.
DR   MIM; 620222; phenotype.
DR   MedGen; CN323007.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 81.
AC   DI-06619
AR   SPGF81.
DE   A male infertility disorder due to oligoasthenoteratozoospermia and
DE   characterized by reduced progressive sperm motility. Patient
DE   spermatozoa exhibit acrosomal hypoplasia and detachment of the
DE   acrosome from the sperm head.
DR   MIM; 620277; phenotype.
DR   MedGen; CN323666.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 82.
AC   DI-06667
AR   SPGF82.
DE   An autosomal recessive male infertility disorder characterized by
DE   asthenoteratozoospermia and multiple morphologic abnormalities of the
DE   sperm flagella.
DR   MIM; 620353; phenotype.
DR   MedGen; CN327030.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 83.
AC   DI-06668
AR   SPGF83.
DE   An autosomal recessive male infertility disorder characterized by
DE   asthenoteratozoospermia. Patient sperm exhibit an asymmetric fibrous
DE   sheath of the flagella.
DR   MIM; 620354; phenotype.
DR   MedGen; CN327031.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 84.
AC   DI-06699
AR   SPGF84.
DE   An autosomal recessive male infertility disorder characterized by
DE   multiple morphologic abnormalities of the sperm flagella, resulting in
DE   severely reduced motility. Some patients also have a reduced sperm
DE   count.
DR   MIM; 620409; phenotype.
DR   MedGen; CN371965.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 85.
AC   DI-06752
AR   SPGF85.
DE   An autosomal recessive male infertility disorder characterized by
DE   globozoospermia and reduced progressive sperm motility.
DR   MIM; 620490; phenotype.
DR   MedGen; CN372716.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 86.
AC   DI-06755
AR   SPGF86.
DE   An autosomal recessive male infertility disorder characterized by
DE   acrosomal defects of the spermatozoa, resulting in oocyte activation
DE   deficiency and fertilization failure.
DR   MIM; 620499; phenotype.
DR   MedGen; CN372737.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 87.
AC   DI-06756
AR   SPGF87.
DE   An autosomal recessive male infertility disorder characterized by
DE   inability of mutant sperm to penetrate the zona pellucida, resulting
DE   in fertilization failure.
DR   MIM; 620500; phenotype.
DR   MedGen; CN372738.
DR   MeSH; D007248.
//
ID   Spermatogenic failure 9.
AC   DI-03123
AR   SPGF9.
DE   An infertility disorder caused by spermatogenesis defects. The most
DE   prominent feature is the malformation of the acrosome, which can be
DE   totally absent in most severe cases. Additional features are an
DE   abnormal nuclear shape and abnormal arrangement of the mitochondria of
DE   the spermatozoon.
SY   Globozoospermia complete.
SY   Globozoospermia total.
DR   MIM; 613958; phenotype.
DR   MedGen; C3151407.
DR   MeSH; D007248.
//
ID   Spermatogenic failure Y-linked 2.
AC   DI-02062
AR   SPGFY2.
DE   A disorder resulting in the absence (azoospermia) or reduction
DE   (oligozoospermia) of sperm in the semen, leading to male infertility.
SY   Azoospermia non-obstructive Y-linked.
SY   Non-obstructive azoospermia and infertility.
SY   Oligospermia non-obstructive Y-linked.
SY   Oligozoospermia non-obstructive Y-linked.
SY   Spermatogenic arrest Y-linked.
SY   Spermatogenic failure nonobstructive Y-linked.
DR   MIM; 415000; phenotype.
DR   MedGen; C1839071.
DR   MeSH; D009845.
DR   MeSH; D053713.
//
ID   Spermatogenic failure, 15.
AC   DI-04721
AR   SPGF15.
DE   An infertility disorder caused by spermatogenesis defects and
DE   characterized by non-obstructive azoospermia due to complete meiotic
DE   maturation arrest. SPGF15 inheritance is autosomal recessive.
DR   MIM; 616950; phenotype.
DR   MedGen; CN236703.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 2.
AC   DI-04467
AR   SPGFX2.
DE   An infertility disorder caused by spermatogenesis defects. It is
DE   characterized by mixed testicular atrophy and azoospermia with meiotic
DE   arrest.
SY   Male infertility from defect in meiosis.
DR   MIM; 309120; phenotype.
DR   MedGen; C1839841.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 3.
AC   DI-06023
AR   SPGFX3.
DE   An infertility disorder characterized by asthenoteratozoospermia.
DE   Spermatozoa exhibit multiple morphologic abnormalities, including
DE   absent, short, coiled, and irregular-caliber flagella.
DR   MIM; 301059; phenotype.
DR   MedGen; CN295284.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 4.
AC   DI-06380
AR   SPGFX4.
DE   A male infertility disorder characterized by non-obstructive
DE   azoospermia or oligoasthenoteratozoospermia. Some patients present
DE   spermatogenic maturation arrest with an almost complete absence of
DE   early and late primary spermatocytes.
DR   MIM; 301077; phenotype.
DR   MedGen; CN308093.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 5.
AC   DI-06617
AR   SPGFX5.
DE   A male infertility disorder characterized by reduced progressive sperm
DE   motility and multiple morphologic sperm abnormalities, resulting in
DE   asthenoteratozoospermia.
DR   MIM; 301099; phenotype.
DR   MedGen; CN323713.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 6.
AC   DI-06618
AR   SPGFX6.
DE   A male infertility disorder due to asthenoteratozoospermia and
DE   characterized by reduced progressive sperm motility and morphologic
DE   sperm abnormalities, such as thin heads and short or coiled flagella.
DR   MIM; 301101; phenotype.
DR   MedGen; CN323714.
DR   MeSH; D007248.
//
ID   Spermatogenic failure, X-linked, 7.
AC   DI-06634
AR   SPGFX7.
DE   A male infertility disorder characterized by a significant reduction
DE   in sperm count and motility, and aberrant sperm morphology with
DE   abnormalities of the head and flagella. Patient sperm show
DE   insufficient individualization, excessive residual cytoplasm, and
DE   defects in acrosome development.
DR   MIM; 301106; phenotype.
DR   MedGen; CN327027.
DR   MeSH; D007248.
//
ID   Spherocytosis 1.
AC   DI-02321
AR   SPH1.
DE   A form of spherocytosis, a hematologic disorder leading to chronic
DE   hemolytic anemia and characterized by numerous abnormally shaped
DE   erythrocytes which are generally spheroidal. SPH1 is characterized by
DE   severe hemolytic anemia. Inheritance can be autosomal dominant or
DE   autosomal recessive. Patients with homozygous mutations have a more
DE   severe disorder.
SY   Hereditary spherocytosis type 1.
SY   HS1.
DR   MIM; 182900; phenotype.
DR   MedGen; C2674218.
DR   MedGen; CN068423.
DR   MeSH; D013103.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Spherocytosis 2.
AC   DI-02322
AR   SPH2.
DE   An autosomal dominant form of hereditary spherocytosis, a group of
DE   hematologic disorders characterized by numerous abnormally shaped
DE   erythrocytes which are generally spheroidal. Clinical manifestations
DE   include chronic hemolytic anemia, jaundice, and splenomegaly, with
DE   variable severity.
SY   Hereditary spherocytosis type 2.
SY   HS2.
SY   Spherocytosis, hereditary, 2.
SY   Spherocytosis, type 2, autosomal dominant.
DR   MIM; 616649; phenotype.
DR   MedGen; CN069761.
DR   MeSH; D013103.
//
ID   Spherocytosis 3.
AC   DI-02323
AR   SPH3.
DE   Spherocytosis is a hematologic disorder leading to chronic hemolytic
DE   anemia and characterized by numerous abnormally shaped erythrocytes
DE   which are generally spheroidal. SPH3 is characterized by severe
DE   hemolytic anemia. Inheritance is autosomal recessive.
SY   Hereditary spherocytosis type 3.
SY   HS3.
DR   MIM; 270970; phenotype.
DR   MedGen; C2678338.
//
ID   Spherocytosis 4.
AC   DI-02324
AR   SPH4.
DE   An autosomal dominant form of spherocytosis, a group of hematologic
DE   disorders characterized by the presence of numerous abnormally shaped
DE   erythrocytes which are generally spheroidal. Affected individuals have
DE   anemia, jaundice, and splenomegaly. Clinical severity is variable.
DE   Some individuals are asymptomatic, whereas others have severe
DE   hemolytic anemia requiring erythrocyte transfusion.
SY   HS4.
SY   Spherocytosis, hereditary, 4.
SY   Spherocytosis, type 4.
DR   MIM; 612653; phenotype.
DR   MedGen; C2675212.
DR   MeSH; D013103.
//
ID   Spherocytosis 5.
AC   DI-02325
AR   SPH5.
DE   Spherocytosis is a hematologic disorder leading to chronic hemolytic
DE   anemia and characterized by numerous abnormally shaped erythrocytes
DE   which are generally spheroidal. Absence of band 4.2 associated with
DE   spur or target erythrocytes has also been reported.
SY   Hereditary spherocytosis type 5.
SY   HS5.
DR   MIM; 612690; phenotype.
DR   MedGen; C2675192.
//
ID   Spinal and bulbar muscular atrophy X-linked 1.
AC   DI-01053
AR   SMAX1.
DE   An X-linked recessive form of spinal muscular atrophy. Spinal muscular
DE   atrophy refers to a group of neuromuscular disorders characterized by
DE   degeneration of the anterior horn cells of the spinal cord, leading to
DE   symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age
DE   at onset is usually in the third to fifth decade of life, but earlier
DE   involvement has been reported. It is characterized by slowly
DE   progressive limb and bulbar muscle weakness with fasciculations,
DE   muscle atrophy, and gynecomastia. The disorder is clinically similar
DE   to classic forms of autosomal spinal muscular atrophy.
SY   Bulbospinal muscular atrophy X-linked.
SY   Bulbospinal neuronopathy X-linked recessive.
SY   KD.
SY   Kennedy disease.
SY   Kennedy spinal and bulbar muscular atrophy.
SY   SBMA.
SY   Spinal and bulbar muscular atrophy.
SY   XBSN.
DR   MIM; 313200; phenotype.
DR   MedGen; C1839259.
DR   MedGen; C2931395.
DR   MeSH; D014897.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy 1.
AC   DI-01055
AR   SMA1.
DE   A form of spinal muscular atrophy, a group of neuromuscular disorder
DE   characterized by degeneration of the anterior horn cells of the spinal
DE   cord, leading to symmetrical muscle weakness and atrophy. Autosomal
DE   recessive forms are classified according to the age of onset, the
DE   maximum muscular activity achieved, and survivorship. The severity of
DE   the disease is mainly determined by the copy number of SMN2, a copy
DE   gene which predominantly produces exon 7-skipped transcripts and only
DE   low amount of full-length transcripts that encode for a protein
DE   identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy
DE   with an intragenic mutation. SMA1 is a severe form, with onset before
DE   6 months of age. SMA1 patients never achieve the ability to sit.
SY   Infantile muscular atrophy.
SY   Proximal hereditary motor neuropathy type I.
SY   SMA I.
SY   SMA infantile acute form.
SY   Spinal muscular atrophy type I.
SY   Werdnig-Hoffman disease.
DR   MIM; 253300; phenotype.
DR   MedGen; C0043116.
DR   MeSH; D014897.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy 2.
AC   DI-01056
AR   SMA2.
DE   An autosomal recessive form of spinal muscular atrophy, a
DE   neuromuscular disorder characterized by degeneration of the anterior
DE   horn cells of the spinal cord, leading to symmetrical muscle weakness
DE   and atrophy. It has intermediate severity, with onset between 6 and 18
DE   months. Patients do not reach the motor milestone of standing, and
DE   survive into adulthood.
SY   SMA II.
SY   Spinal muscular atrophy infantile chronic form.
SY   Spinal muscular atrophy intermediate type.
SY   Spinal muscular atrophy type II.
DR   MIM; 253550; phenotype.
DR   MedGen; C0393538.
DR   MedGen; C2931358.
DR   MeSH; D014897.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy 3.
AC   DI-01057
AR   SMA3.
DE   An autosomal recessive form of spinal muscular atrophy, a
DE   neuromuscular disorder characterized by degeneration of the anterior
DE   horn cells of the spinal cord, leading to symmetrical muscle weakness
DE   and atrophy. Onset is after 18 months. Patients develop ability to
DE   stand and walk and survive into adulthood.
SY   Kugelberg-Welander syndrome.
SY   KWS.
SY   SMA III.
SY   Spinal muscular atrophy mild childhood and adolescent form.
SY   Spinal muscular atrophy type III.
SY   Wohlfart-Kugelberg-Welander disease.
DR   MIM; 253400; phenotype.
DR   MedGen; C0152109.
DR   MeSH; D014897.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy 4.
AC   DI-01058
AR   SMA4.
DE   An autosomal recessive form of spinal muscular atrophy, a
DE   neuromuscular disorder characterized by degeneration of the anterior
DE   horn cells of the spinal cord, leading to symmetrical muscle weakness
DE   and atrophy. Onset is in adulthood, disease progression is slow, and
DE   patients can stand and walk.
SY   SMA IV.
SY   Spinal muscular atrophy adult form.
SY   Spinal muscular atrophy proximal adult autosomal recessive.
SY   Spinal muscular atrophy type IV.
DR   MIM; 271150; phenotype.
DR   MedGen; C1838230.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy with congenital bone fractures 1.
AC   DI-04681
AR   SMABF1.
DE   An autosomal recessive neuromuscular disorder characterized by
DE   prenatal-onset spinal muscular atrophy, multiple congenital
DE   contractures consistent with arthrogryposis multiplex congenita,
DE   respiratory distress, and congenital bone fractures.
SY   Spinal muscular atrophy, type I, with congenital bone fractures.
DR   MIM; 616866; phenotype.
DR   MedGen; CN235620.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy with congenital bone fractures 2.
AC   DI-04682
AR   SMABF2.
DE   An autosomal recessive neuromuscular disorder characterized by
DE   prenatal-onset spinal muscular atrophy, multiple congenital
DE   contractures consistent with arthrogryposis multiplex congenita,
DE   respiratory distress, and congenital bone fractures.
DR   MIM; 616867; phenotype.
DR   MedGen; CN235621.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy with progressive myoclonic epilepsy.
AC   DI-03504
AR   SMAPME.
DE   An autosomal recessive neuromuscular disorder characterized by
DE   childhood onset of motor deficits and progressive myoclonic seizures,
DE   after normal developmental milestones. Proximal muscle weakness and
DE   generalized muscular atrophy are due to degeneration of spinal motor
DE   neurons. Myoclonic epilepsy is generally resistant to conventional
DE   therapy. The disease course is progressive and leads to respiratory
DE   muscle involvement and severe handicap or early death from respiratory
DE   insufficiency.
SY   Hereditary myoclonus with progressive distal muscular atrophy.
DR   MIM; 159950; phenotype.
DR   MedGen; C1834569.
DR   MeSH; D014897.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0887:Epilepsy.
//
ID   Spinal muscular atrophy X-linked 2.
AC   DI-01059
AR   SMAX2.
DE   A lethal infantile form of spinal muscular atrophy, a neuromuscular
DE   disorder characterized by degeneration of the anterior horn cells of
DE   the spinal cord, leading to symmetrical muscle weakness and atrophy.
DE   Clinical features include hypotonia, areflexia, and multiple
DE   congenital contractures.
SY   AMC distal X-linked.
SY   AMCX1.
SY   Arthrogryposis multiplex congenita distal X-linked.
SY   Arthrogryposis X-linked type I.
SY   Spinal muscular atrophy infantile X-linked.
SY   Spinal muscular atrophy X-linked lethal infantile.
SY   XLSMA.
DR   MIM; 301830; phenotype.
DR   MedGen; C1844934.
DR   MeSH; D001176.
DR   MeSH; D014897.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, infantile, James type.
AC   DI-05926
AR   SMAJI.
DE   An autosomal dominant form of spinal muscular atrophy, a group of
DE   neuromuscular disorders characterized by degeneration of the anterior
DE   horn cells of the spinal cord, leading to symmetrical muscle weakness
DE   and atrophy. SMAJI is a severe disease characterized by hypotonia
DE   manifesting in the first weeks or months of life, delayed motor
DE   development, motor regression, and muscle weakness and atrophy
DE   primarily affecting distal muscles. Additional variable features
DE   include feeding difficulties, poor overall growth, foot deformities,
DE   kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and
DE   respiratory insufficiency.
DR   MIM; 619042; phenotype.
DR   MedGen; CN293370.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, Jokela type.
AC   DI-04345
AR   SMAJ.
DE   An autosomal dominant, slowly progressive, lower motor neuron disease.
DE   SMAJ is characterized by adult-onset of muscle cramps and
DE   fasciculations affecting the proximal and distal muscles of the upper
DE   and lower limbs. The disorder results in weakness and mild muscle
DE   atrophy later in life.
DR   MIM; 615048; phenotype.
DR   MedGen; C3554398.
DR   MedGen; CN165244.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant.
AC   DI-03433
AR   SMALED1.
DE   A form of spinal muscular atrophy, a neuromuscular disorder
DE   characterized by degeneration of the anterior horn cells of the spinal
DE   cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is
DE   characterized by muscle weakness predominantly affecting the proximal
DE   lower extremities.
SY   Autosomal dominant childhood proximal spinal muscular atrophy.
SY   Autosomal dominant juvenile proximal spinal muscular atrophy.
SY   Autosomal dominant Kugelberg-Welander syndrome.
SY   SMA-LED.
DR   MIM; 158600; phenotype.
DR   MedGen; C1834690.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant.
AC   DI-03814
AR   SMALED2A.
DE   An autosomal dominant form of spinal muscular atrophy characterized by
DE   early-childhood onset of muscle weakness and atrophy predominantly
DE   affecting the proximal and distal muscles of the lower extremity,
DE   although some patients may show upper extremity involvement. The
DE   disorder results in delayed walking, waddling gait, difficulty
DE   walking, and loss of distal reflexes. Some patients may have foot
DE   deformities or hyperlordosis, and some show mild upper motor signs,
DE   such as spasticity. Sensation, bulbar function, and cognitive function
DE   are preserved. The disorder shows very slow progression throughout
DE   life.
DR   MIM; 615290; phenotype.
DR   MedGen; C3809049.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant.
AC   DI-05467
AR   SMALED2B.
DE   An autosomal dominant neuromuscular disorder characterized by
DE   decreased fetal movements, fractures in utero, severe congenital joint
DE   contractures, arthrogryposis multiplex congenita, severe hypotonia,
DE   muscle atrophy, and respiratory insufficiency and failure due to
DE   muscle weakness. Some patients may have dysmorphic facial features
DE   and/or abnormalities on brain imaging. Death in early childhood may
DE   occur.
SY   Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.
DR   MIM; 618291; phenotype.
DR   MedGen; CN258164.
DR   MeSH; D001176.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinal muscular atrophy, proximal, adult, autosomal dominant.
AC   DI-01054
AR   SMAPAD.
DE   A form of spinal muscular atrophy, a neuromuscular disorder
DE   characterized by degeneration of the anterior horn cells of the spinal
DE   cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is
DE   characterized by proximal muscle weakness that begins in the lower
DE   limbs and then progresses to upper limbs, onset in late adulthood
DE   (after third decade) and a benign course. Most of the patients remain
DE   ambulatory 10 to 40 years after clinical onset.
SY   Finkel late-adult type SMA.
DR   MIM; 182980; phenotype.
DR   MedGen; C1854058.
DR   MedGen; C1866777.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia 1.
AC   DI-01066
AR   SCA1.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to cerebellum degeneration with variable
DE   involvement of the brainstem and spinal cord. SCA1 belongs to the
DE   autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE   characterized by cerebellar ataxia in combination with additional
DE   clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE   extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is
DE   caused by expansion of a CAG repeat in the coding region of ATXN1.
DE   Longer expansions result in earlier onset and more severe clinical
DE   manifestations of the disease.
SY   Cerebelloparenchymal disorder I.
SY   CPD1.
SY   Menzel type OPCA.
SY   Olivopontocerebellar atrophy I.
SY   Olivopontocerebellar atrophy IV.
SY   OPCA1.
SY   OPCA4.
SY   OPCA I.
SY   OPCA IV.
SY   Schut-Haymaker type OPCA.
DR   MIM; 164400; phenotype.
DR   MedGen; C0752120.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 10.
AC   DI-01073
AR   SCA10.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA10 is an autosomal
DE   dominant cerebellar ataxia (ADCA).
DR   MIM; 603516; phenotype.
DR   MedGen; C1963674.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 11.
AC   DI-01074
AR   SCA11.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA11 is an autosomal
DE   dominant cerebellar ataxia (ADCA). It is a relatively benign, late-
DE   onset, slowly progressive neurologic disorder.
DR   MIM; 604432; phenotype.
DR   MedGen; C1858351.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 12.
AC   DI-01075
AR   SCA12.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA12 is an autosomal
DE   dominant cerebellar ataxia (ADCA).
DR   MIM; 604326; phenotype.
DR   MedGen; C1858501.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 13.
AC   DI-01076
AR   SCA13.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA13 is an autosomal
DE   dominant cerebellar ataxia (ADCA) characterized by slow progression
DE   and variable age at onset, ranging from childhood to late adulthood.
DE   Intellectual disability can be present in some patients.
DR   MIM; 605259; phenotype.
DR   MedGen; C1854488.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 14.
AC   DI-01077
AR   SCA14.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA14 is an autosomal
DE   dominant cerebellar ataxia (ADCA).
DR   MIM; 605361; phenotype.
DR   MedGen; C1854369.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 15.
AC   DI-01078
AR   SCA15.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA15 is an autosomal
DE   dominant cerebellar ataxia (ADCA). It is very slow progressing form
DE   with a wide range of onset, ranging from childhood to adult. Most
DE   patients remain ambulatory.
SY   SCA16.
SY   Spinocerebellar ataxia type 16.
DR   MIM; 606658; phenotype.
DR   MedGen; C1847725.
DR   MedGen; C2676005.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 17.
AC   DI-01079
AR   SCA17.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA17 is an autosomal
DE   dominant cerebellar ataxia (ADCA) characterized by widespread cerebral
DE   and cerebellar atrophy, dementia and extrapyramidal signs. The
DE   molecular defect in SCA17 is the expansion of a CAG repeat in the
DE   coding region of TBP. Longer expansions result in earlier onset and
DE   more severe clinical manifestations of the disease.
SY   HDL4.
SY   Huntington disease-like 4.
DR   MIM; 607136; phenotype.
DR   MedGen; C1846707.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 19.
AC   DI-03932
AR   SCA19.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA19 is a relatively
DE   mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal
DE   tract involvement, tremor and peripheral neuropathy, and mild atrophy
DE   of the cerebellar hemispheres and vermis.
SY   SCA22.
SY   Spinocerebellar ataxia 22.
DR   MIM; 607346; phenotype.
DR   MedGen; C1846367.
DR   MedGen; C2746067.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 2.
AC   DI-01067
AR   SCA2.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to cerebellum degeneration with variable
DE   involvement of the brainstem and spinal cord. SCA2 belongs to the
DE   autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE   characterized by cerebellar ataxia in combination with additional
DE   clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE   extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is
DE   characterized by hyporeflexia, myoclonus and action tremor and
DE   dopamine-responsive parkinsonism. In some patients, SCA2 presents as
DE   pure familial parkinsonism without cerebellar signs.
SY   Cerebellar degeneration with slow eye movements.
SY   Olivopontocerebellar atrophy Holguin type.
SY   Olivopontocerebellar atrophy II.
SY   OPCA2.
SY   OPCA II.
SY   SDSEM.
SY   Spinocerebellar ataxia Cuban type.
SY   Spinocerebellar atrophy II.
SY   Spinocerebellar degeneration with slow eye movements.
SY   Wadia-Swami syndrome.
DR   MIM; 183090; phenotype.
DR   MedGen; C0752121.
DR   MedGen; C2931904.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 20.
AC   DI-03078
AR   SCA20.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA20 is an autosomal
DE   dominant, adult-onset form characterized by dysarthria due to
DE   spasmodic dysphonia followed by slowly progressive ataxia.
SY   Chromosome 11q12 duplication syndrome 260-KB.
SY   Spinocerebellar ataxia with dysphonia.
SY   Spinocerebellar ataxia with spasmodic cough.
DR   MIM; 608687; phenotype.
DR   MedGen; C1837541.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 21.
AC   DI-04256
AR   SCA21.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA21 is characterized
DE   by onset in the first decades of life of slowly progressive relatively
DE   mild cerebellar ataxia associated with slight extrapyramidal features
DE   predominant in older patients and cognitive impairment predominant in
DE   younger patients.
DR   MIM; 607454; phenotype.
DR   MedGen; C1843891.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia 23.
AC   DI-02949
AR   SCA23.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA23 is an adult-onset
DE   autosomal dominant form characterized by slowly progressive gait and
DE   limb ataxia, with variable additional features, including peripheral
DE   neuropathy and dysarthria.
DR   MIM; 610245; phenotype.
DR   MedGen; C1853250.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 25.
AC   DI-06450
AR   SCA25.
DE   An autosomal dominant form of spinocerebellar ataxia, a clinically and
DE   genetically heterogeneous group of cerebellar disorders. Patients show
DE   progressive incoordination of gait and often poor coordination of
DE   hands, speech and eye movements, due to degeneration of the cerebellum
DE   with variable involvement of the brainstem and spinal cord. SCA25 is
DE   characterized by the onset of lower limb ataxia and gait difficulties
DE   in the first few decades of life, although later onset has been
DE   reported. There is incomplete penetrance and variable expressivity,
DE   even within families.
DR   MIM; 608703; phenotype.
DR   MedGen; C1837518.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 26.
AC   DI-03933
AR   SCA26.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord.
DR   MIM; 609306; phenotype.
DR   MedGen; C1836395.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 27A.
AC   DI-01080
AR   SCA27A.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA27A is an autosomal
DE   dominant, slowly progressive form characterized by gait disturbances,
DE   ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked
DE   nystagmus, and learning disabilities. There is significant
DE   variability, and patients show various combinations of neurologic
DE   features.
SY   Cerebellar ataxia, autosomal dominant, FGF14-related.
SY   NYS4.
SY   Nystagmus 4, congenital, autosomal dominant.
SY   SCA27.
SY   Spinocerebellar ataxia 27.
SY   Vestibulocerebellar disorder with predominant ocular signs.
DR   MIM; 193003; phenotype.
DR   MedGen; C1836383.
DR   MedGen; C1860433.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 27B, late-onset.
AC   DI-06556
AR   SCA27B.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA27B is an autosomal
DE   dominant, slowly progressive form characterized by the onset of gait
DE   and appendicular ataxia in adulthood.
DR   MIM; 620174; phenotype.
DR   MedGen; CN322670.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 28.
AC   DI-02675
AR   SCA28.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA28 is an autosomal
DE   dominant cerebellar ataxia (ADCA) with a slow progressive course and
DE   no evidence of sensory involvement or cognitive impairment.
DR   MIM; 610246; phenotype.
DR   MedGen; C1853249.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 29.
AC   DI-03660
AR   SCA29.
DE   An autosomal dominant, congenital spinocerebellar ataxia characterized
DE   by early motor delay, hypotonia and mild cognitive delay. Affected
DE   individuals develop a very slowly progressive or non-progressive gait
DE   and limb ataxia associated with cerebellar atrophy on brain imaging.
DE   Additional variable features include nystagmus, dysarthria, and
DE   tremor.
SY   ACV.
SY   Aplasia of cerebellar vermis.
SY   Autosomal dominant congenital nonprogressive cerebellar ataxia.
SY   Cerebellar vermis aplasia.
SY   CNPCA.
DR   MIM; 117360; phenotype.
DR   MedGen; C1861732.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 3.
AC   DI-01068
AR   SCA3.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to cerebellum degeneration with variable
DE   involvement of the brainstem and spinal cord. SCA3 belongs to the
DE   autosomal dominant cerebellar ataxias type I (ADCA I) which are
DE   characterized by cerebellar ataxia in combination with additional
DE   clinical features like optic atrophy, ophthalmoplegia, bulbar and
DE   extrapyramidal signs, peripheral neuropathy and dementia. The
DE   molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding
DE   region. Longer expansions result in earlier onset and more severe
DE   clinical manifestations of the disease.
SY   Azorean neurologic disease.
SY   Machado-Joseph disease.
SY   MJD.
SY   Nigrospinodentatal degeneration.
SY   Spinocerebellar atrophy.
DR   MIM; 109150; phenotype.
DR   MedGen; C0024408.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 31.
AC   DI-01060
AR   SCA31.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA31 belongs to the
DE   autosomal dominant cerebellar ataxias type III (ADCA III) which are
DE   characterized by pure cerebellar ataxia without additional signs.
SY   Pure spinocerebellar ataxia Japanese type.
SY   SCA4 pure Japanese type.
SY   Spinocerebellar ataxia 16q22-linked.
DR   MIM; 117210; phenotype.
DR   MedGen; C1861736.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 34.
AC   DI-04188
AR   SCA34.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA34 is an autosomal
DE   dominant form characterized by the association of progressive
DE   cerebellar ataxia with erythrokeratodermia variabilis.
SY   Erythrokeratodermia with ataxia.
DR   MIM; 133190; phenotype.
DR   MedGen; C1851481.
DR   MeSH; D020754.
DR   MeSH; D056266.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 35.
AC   DI-03054
AR   SCA35.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA35 patients commonly
DE   show upper limb involvement and torticollis. There is no cognitive
DE   impairment.
DR   MIM; 613908; phenotype.
DR   MedGen; CN077707.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 36.
AC   DI-03245
AR   SCA36.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA36 is characterized
DE   by complicated clinical features, with ataxia as the first symptom,
DE   followed by characteristic late-onset involvement of the motor neuron
DE   system. Ataxic symptoms, such as gait and truncal instability, ataxic
DE   dysarthria, and uncoordinated limbs, start in late forties to fifties.
DE   Characteristically, affected individuals exhibit tongue atrophy with
DE   fasciculation. Progression of motor neuron involvement is typically
DE   limited to the tongue and main proximal skeletal muscles in both upper
DE   and lower extremities.
DR   MIM; 614153; phenotype.
DR   MedGen; C3472711.
DR   MedGen; CN078798.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 37.
AC   DI-05050
AR   SCA37.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA37 is an autosomal
DE   dominant form characterized by adult-onset of slowly progressive gait
DE   instability, frequent falls, and dysarthria associated with cerebellar
DE   atrophy on brain imaging.
DR   MIM; 615945; phenotype.
DR   MedGen; C3889636.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 38.
AC   DI-04196
AR   SCA38.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA38 is an autosomal
DE   dominant form characterized by adult-onset of slowly progressive gait
DE   ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
DR   MIM; 615957; phenotype.
DR   MedGen; CN218416.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 40.
AC   DI-04242
AR   SCA40.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA40 is an autosomal
DE   dominant, slowly progressive form. Brain MRI shows pontocerebellar
DE   atrophy along with a global reduction in brain volume.
DR   MIM; 616053; phenotype.
DR   MedGen; CN219009.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 41.
AC   DI-04448
AR   SCA41.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord.
DR   MIM; 616410; phenotype.
DR   MedGen; CN231150.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 42.
AC   DI-04644
AR   SCA42.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA42 is a slowly
DE   progressive, autosomal dominant form with variable severity.
DR   MIM; 616795; phenotype.
DR   MedGen; CN235171.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.
AC   DI-05309
AR   SCA42ND.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA42ND is an early-
DE   onset, severe form associated with motor and cognitive impairment,
DE   cerebellar atrophy as well as variable features such as facial
DE   dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND
DE   inheritance is autosomal dominant.
DR   MIM; 618087; phenotype.
DR   MedGen; CN252698.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 43.
AC   DI-04796
AR   SCA43.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA43 is a slowly
DE   progressive, autosomal dominant form.
DR   MIM; 617018; phenotype.
DR   MedGen; CN238088.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 44.
AC   DI-05091
AR   SCA44.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA44 is a slowly
DE   progressive, autosomal dominant form.
DR   MIM; 617691; phenotype.
DR   MedGen; CN492437.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 45.
AC   DI-05143
AR   SCA45.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA45 is a slowly
DE   progressive, autosomal dominant form with onset in adulthood.
DR   MIM; 617769; phenotype.
DR   MedGen; CN623017.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 46.
AC   DI-05144
AR   SCA46.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA46 is a slowly
DE   progressive, autosomal dominant form with onset in adulthood.
SY   Spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy.
DR   MIM; 617770; phenotype.
DR   MedGen; CN623018.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 47.
AC   DI-05237
AR   SCA47.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA47 is an autosomal
DE   dominant disease with a highly variable phenotype and incomplete
DE   penetrance. Clinical features include developmental disability,
DE   ataxia, and seizures.
DR   MIM; 617931; phenotype.
DR   MedGen; CN244564.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 48.
AC   DI-05368
AR   SCA48.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA48 is an autosomal
DE   dominant neurodegenerative disease characterized by onset in mid-
DE   adulthood of progressive cognitive decline and gait ataxia, and
DE   vermian and hemispheric cerebellar atrophy.
DR   MIM; 618093; phenotype.
DR   MedGen; CN257775.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 49.
AC   DI-06383
AR   SCA49.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA49 is an autosomal
DE   dominant, slowly progressive form characterized by ataxia, nystagmus,
DE   dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and
DE   distinctive cerebral demyelination. Affected individuals present with
DE   horizontal and vertical gaze-evoked nystagmus and hyperreflexia as
DE   initial clinical signs. Age of disease onset ranges from the second to
DE   seventh decades, even within the same family.
DR   MIM; 619806; phenotype.
DR   MedGen; CN307998.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 5.
AC   DI-01069
AR   SCA5.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA5 is an autosomal
DE   dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder
DE   with variable age at onset, ranging between 10 and 50 years.
DR   MIM; 600224; phenotype.
DR   MedGen; C0752123.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 50.
AC   DI-06566
AR   SCA50.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA50 is an autosomal
DE   dominant form characterized by cerebellar ataxia, oculomotor apraxia
DE   and other eye movement abnormalities, and cerebellar atrophy on brain
DE   imaging.
DR   MIM; 620158; phenotype.
DR   MedGen; CN322654.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 6.
AC   DI-01070
AR   SCA6.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA6 is an autosomal
DE   dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG
DE   repeat in the coding region of CACNA1A. There seems to be a
DE   correlation between the repeat number and earlier onset of the
DE   disorder.
DR   MIM; 183086; phenotype.
DR   MedGen; C0752124.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 7.
AC   DI-01071
AR   SCA7.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA7 belongs to the
DE   autosomal dominant cerebellar ataxias type II (ADCA II) which are
DE   characterized by cerebellar ataxia with retinal degeneration and
DE   pigmentary macular dystrophy.
SY   Olivopontocerebellar atrophy III.
SY   Olivopontocerebellar atrophy with retinal degeneration.
SY   OPCA3.
SY   OPCA III.
DR   MIM; 164500; phenotype.
DR   MedGen; C0752125.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia 8.
AC   DI-01072
AR   SCA8.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCA8 is an autosomal
DE   dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG
DE   repeat in ATXN8, which is translated into a nearly pure polyglutamine
DE   protein which forms 1C2-positive inclusions in Purkinje cells and
DE   other neurons.
DR   MIM; 608768; phenotype.
DR   MedGen; C1837454.
DR   MeSH; D020754.
KW   KW-0950:Spinocerebellar ataxia.
//
ID   Spinocerebellar ataxia with epilepsy.
AC   DI-04684
AR   SCAE.
DE   An autosomal recessive syndrome characterized by headaches and/or
DE   seizures manifesting in childhood or adolescence, cerebellar and
DE   sensory ataxia, dysarthria, and myoclonus manifesting in early
DE   adulthood. Neuropathological findings include spinocerebellar
DE   degeneration associated with cortical neuronal degeneration in
DE   advanced cases.
SY   Epilepsy, progressive myoclonic 5.
SY   EPM5.
SY   Progressive myoclonic epilepsy with sensory ataxic neuropathy.
DR   MIM; 607459; phenotype.
DR   MedGen; C3151194.
DR   MeSH; D013132.
DR   MeSH; D020191.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
KW   KW-0887:Epilepsy.
//
ID   Spinocerebellar ataxia, autosomal recessive 4.
AC   DI-05339
AR   SCAR4.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia
DE   of the lower limbs resulting in difficulty walking. The age at onset
DE   is highly variable, ranging from early childhood to adulthood.
SY   SCA24.
SY   SCASI.
SY   Spinocerebellar ataxia 24.
SY   Spinocerebellar ataxia with saccadic intrusions.
DR   MIM; 607317; phenotype.
DR   MedGen; C1846492.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 10.
AC   DI-02959
AR   SCAR10.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR10 is characterized
DE   by onset in the teenage or young adult years of gait and limb ataxia,
DE   dysarthria, and nystagmus associated with marked cerebellar atrophy on
DE   brain imaging.
DR   MIM; 613728; phenotype.
DR   MedGen; C3150998.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 11.
AC   DI-03244
AR   SCAR11.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR11 is associated
DE   with psychomotor retardation.
DR   MIM; 614229; phenotype.
DR   MedGen; C3280226.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 12.
AC   DI-04025
AR   SCAR12.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR12 is additionally
DE   characterized by onset of generalized seizures in infancy, and delayed
DE   psychomotor development with intellectual disability. Some patients
DE   may also show spasticity.
DR   MIM; 614322; phenotype.
DR   MedGen; C3280452.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 13.
AC   DI-03542
AR   SCAR13.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR13 is characterized
DE   by delayed psychomotor development beginning in infancy. Affected
DE   individuals show mild to profound intellectual disability with poor or
DE   absent speech as well as gait and stance ataxia and hyperreflexia.
DR   MIM; 614831; phenotype.
DR   MedGen; C3553816.
DR   MedGen; CN143954.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 14.
AC   DI-03864
AR   SCAR14.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR14 is characterized
DE   by delayed psychomotor development, severe early onset gait ataxia,
DE   eye movement abnormalities, cerebellar atrophy on brain imaging, and
DE   intellectual disability.
SY   SPARCA1.
SY   Spectrin-associated autosomal recessive cerebellar ataxia 1.
DR   MIM; 615386; phenotype.
DR   MedGen; C3809327.
DR   MedGen; CN179771.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 15.
AC   DI-04054
AR   SCAR15.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR15 patients manifest
DE   cerebellar ataxia in early childhood and delayed motor development
DE   with delayed walking. Additional features include dysarthria, upper
DE   limb involvement, abnormal eye movements, and hyporeflexia.
SY   Salih ataxia.
DR   MIM; 615705; phenotype.
DR   MedGen; C3810326.
DR   MedGen; CN185374.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 16.
AC   DI-04081
AR   SCAR16.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR16 is characterized
DE   by truncal and limb ataxia resulting in gait instability.
DE   Additionally, patients may show dysarthria, nystagmus, spasticity of
DE   the lower limbs, and mild peripheral sensory neuropathy.
DR   MIM; 615768; phenotype.
DR   MedGen; CN186321.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 17.
AC   DI-04290
AR   SCAR17.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR17 features include
DE   non-progressive congenital cerebellar ataxia, mildly delayed walking
DE   with an unsteady gait and frequent falls, dysarthria, dysmetria,
DE   hypotonia in the extremities, truncal ataxia, increased reflexes in
DE   the lower extremities, and intellectual disability.
DR   MIM; 616127; phenotype.
DR   MedGen; CN225909.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 18.
AC   DI-04317
AR   SCAR18.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR18 features include
DE   progressive cerebellar atrophy, delayed psychomotor development,
DE   severely impaired gait, ocular movement abnormalities, and
DE   intellectual disability.
DR   MIM; 616204; phenotype.
DR   MedGen; CN225382.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 2.
AC   DI-04657
AR   SCAR2.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR2 is characterized by onset of impaired motor development and
DE   ataxic gait in early childhood. Additional features often include loss
DE   of fine motor skills, dysarthria, nystagmus, cerebellar signs, and
DE   delayed cognitive development with intellectual disability.
SY   Cerebellar hypoplasia, non-progressive Norman type.
SY   Cerebelloparenchymal disorder III.
SY   CPD3.
SY   CPD III.
DR   MIM; 213200; phenotype.
DR   MedGen; C1859298.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 20.
AC   DI-04379
AR   SCAR20.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened
DE   facial features, severely delayed psychomotor development with poor or
DE   absent speech, and intellectual disability.
DR   MIM; 616354; phenotype.
DR   MedGen; CN230320.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 21.
AC   DI-04603
AR   SCAR21.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR21 is characterized by cerebellar atrophy and ataxia with onset in
DE   early childhood. Patients also manifest recurrent episodes of liver
DE   failure, hepatic fibrosis and a peripheral neuropathy.
SY   CALFAN.
SY   Cholestasis, low GGT, acute liver failure, and neurodegeneration syndrome.
SY   Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy.
DR   MIM; 616719; phenotype.
DR   MedGen; CN234681.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 22.
AC   DI-04713
AR   SCAR22.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR22 patients manifest variable severity of intellectual disability
DE   associated with adult-onset cerebellar ataxia.
DR   MIM; 616948; phenotype.
DR   MedGen; CN236706.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 23.
AC   DI-04714
AR   SCAR23.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR23 patients manifest epilepsy, intellectual disability, and gait
DE   ataxia.
DR   MIM; 616949; phenotype.
DR   MedGen; CN236707.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 24.
AC   DI-04847
AR   SCAR24.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR24 patients manifest gait instability and speech difficulties with
DE   onset in childhood. Clinical features include gait and limb ataxia,
DE   dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain
DE   imaging.
DR   MIM; 617133; phenotype.
DR   MedGen; CN238684.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0991:Intellectual disability.
//
ID   Spinocerebellar ataxia, autosomal recessive, 25.
AC   DI-05044
AR   SCAR25.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR25 patients manifest delayed psychomotor development with delayed
DE   walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar
DE   hypoplasia is seen on brain imaging.
DR   MIM; 617584; phenotype.
DR   MedGen; CN349871.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 26.
AC   DI-05068
AR   SCAR26.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR26 is a progressive disease characterized by gait and limb ataxia,
DE   loss of independent ambulation, oculomotor apraxia, and peripheral
DE   neuropathy with distal muscle weakness and areflexia.
DR   MIM; 617633; phenotype.
DR   MedGen; CN417133.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 27.
AC   DI-05515
AR   SCAR27.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR27 is a progressive disease characterized by gait difficulties,
DE   eye movement abnormalities, dysarthria, and difficulty writing. Some
DE   patients may lose independent ambulation. Additional features include
DE   spasticity of the lower limbs and cognitive impairment.
DR   MIM; 618369; phenotype.
DR   MedGen; CN258266.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 28.
AC   DI-05783
AR   SCAR28.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR28 patients manifest mild motor developmental delay, gait ataxia,
DE   and dysarthria. Some patients show mildly impaired intellectual
DE   development. Disease onset is in early childhood.
DR   MIM; 618800; phenotype.
DR   MedGen; CN263364.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 29.
AC   DI-06157
AR   SCAR29.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR29 is a progressive disease characterized by delayed motor
DE   development in early infancy followed by difficulty walking due to an
DE   ataxic gait or inability to walk, hypotonia, and variably impaired
DE   intellectual development.
SY   Barakat-Van Ham-Kaya syndrome.
SY   BAVAHAKA.
SY   NEDHCA.
SY   Neurodevelopmental disorder with hypotonia and cerebellar ataxia.
DR   MIM; 619389; phenotype.
DR   MedGen; CN299631.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 30.
AC   DI-06158
AR   SCAR30.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR30 is a progressive disease characterized by childhood-onset
DE   global developmental delay with variably impaired intellectual
DE   development, motor dysfunction, and cerebellar ataxia. Affected
DE   individuals may also have psychiatric abnormalities.
DR   MIM; 619405; phenotype.
DR   MedGen; CN299630.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 31.
AC   DI-06159
AR   SCAR31.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR30 is characterized by global developmental delay, hypotonia,
DE   variably impaired intellectual and language development, ataxic gait,
DE   tremor, and dysarthria. Most affected individuals have optic atrophy.
DE   Additional features may include retinitis pigmentosa, sensorineural
DE   deafness, dysmorphic facial features, and possibly endocrine
DE   dysfunction.
DR   MIM; 619422; phenotype.
DR   MedGen; CN299706.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 32.
AC   DI-06413
AR   SCAR32.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAR32 is characterized by the onset of gait ataxia in the second or
DE   third decades of life. Other classic features include upper limb
DE   ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may
DE   have hyper- or hypokinetic movement abnormalities. Brain imaging shows
DE   cerebellar atrophy. Atrophy can extend to the brainstem and medullary
DE   olives.
DR   MIM; 619862; phenotype.
DR   MedGen; CN312030.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 7.
AC   DI-03994
AR   SCAR7.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR7 patients show
DE   difficulty walking and writing, dysarthria, limb ataxia, and
DE   cerebellar atrophy.
DR   MIM; 609270; phenotype.
DR   MedGen; C1836474.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, 8.
AC   DI-01062
AR   SCAR8.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAR8 is an autosomal
DE   recessive form.
SY   ARCA1.
SY   Ataxia recessive of Beauce.
SY   Autosomal recessive cerebellar ataxia type 1.
DR   MIM; 610743; phenotype.
DR   MedGen; C1853116.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.
AC   DI-01064
AR   SCAN1.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAN1 is an autosomal
DE   recessive cerebellar ataxia (ARCA) associated with peripheral axonal
DE   motor and sensory neuropathy, distal muscular atrophy, pes cavus and
DE   steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected
DE   individuals have normal intelligence.
DR   MIM; 607250; phenotype.
DR   MedGen; C1846574.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2.
AC   DI-01061
AR   SCAN2.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAN2 is an autosomal
DE   recessive form associated with peripheral neuropathy and elevated
DE   serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine
DE   kinase levels. Some SCAN2 patients manifest oculomotor apraxia.
SY   AOA2.
SY   Ataxia-ocular apraxia 2.
SY   Ataxia-oculomotor apraxia 2.
SY   SCAR1.
SY   Spinocerebellar ataxia, autosomal recessive, 1.
DR   MIM; 606002; phenotype.
DR   MedGen; C1853761.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
ID   Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
AC   DI-05534
AR   SCAN3.
DE   A form of spinocerebellar ataxia, a clinically and genetically
DE   heterogeneous group of cerebellar disorders due to degeneration of the
DE   cerebellum with variable involvement of the brainstem and spinal cord.
DE   SCAN3 is an autosomal recessive disorder characterized by onset in the
DE   first decade of slowly progressive distal muscle weakness and atrophy
DE   and distal sensory impairment due to an axonal peripheral neuropathy.
DE   Affected individuals have gait disturbances and sometimes manual
DE   dexterity difficulties, as well as cerebellar ataxia associated with
DE   cerebellar atrophy on brain imaging.
DR   MIM; 618387; phenotype.
DR   MedGen; CN258287.
DR   MeSH; D002524.
DR   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
KW   KW-0622:Neuropathy.
//
ID   Spinocerebellar ataxia, X-linked 1.
AC   DI-03640
AR   SCAX1.
DE   Spinocerebellar ataxia is a clinically and genetically heterogeneous
DE   group of cerebellar disorders. Patients show progressive
DE   incoordination of gait and often poor coordination of hands, speech
DE   and eye movements, due to degeneration of the cerebellum with variable
DE   involvement of the brainstem and spinal cord. SCAX1 is characterized
DE   by hypotonia at birth, delayed motor development, gait ataxia,
DE   difficulty standing, dysarthria, and slow eye movements. Brain MRI
DE   shows cerebellar ataxia.
SY   Olivopontocerebellar atrophy X-linked.
SY   OPCAX.
SY   OPCA X-linked.
DR   MIM; 302500; phenotype.
DR   MedGen; C0796205.
DR   MeSH; D009849.
KW   KW-0523:Neurodegeneration.
//
ID   Spitz nevus.
AC   DI-04452
AR   SPITZN.
DE   A benign melanocytic neoplasm composed of epithelioid or spindle cell
DE   melanocytes. Spitz nevi usually present as solitary skin tumors but
DE   can occur in multiple patterns, having agminated, dermatomal, and
DE   disseminated forms.
SY   Nevus, spindle cell and epithelioid.
SY   Nevus, Spitz.
SY   Spindle cell and epithelioid nevus.
DR   MIM; 137550; phenotype.
DR   MedGen; C0206739.
DR   MeSH; D018332.
//
ID   Split-foot malformation with mesoaxial polydactyly.
AC   DI-04698
AR   SFMMP.
DE   An autosomal recessive disorder characterized by a split-foot defect,
DE   mesoaxial polydactyly, nail abnormalities of the hands, and
DE   sensorineural hearing loss.
DR   MIM; 616890; phenotype.
DR   MedGen; CN235903.
DR   MeSH; D005532.
DR   MeSH; D017689.
//
ID   Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive.
AC   DI-03391
AR   SHFM1D.
DE   A disease characterized by the association of split-hand/foot
DE   malformation with deafness. Split-hand/foot malformation is a limb
DE   malformation involving the central rays of the autopod and presenting
DE   with syndactyly, median clefts of the hands and feet, and aplasia
DE   and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some
DE   patients have been found to have intellectual disability, ectodermal
DE   and craniofacial findings, and orofacial clefting.
SY   Congenital deafness and split hands and feet.
DR   MIM; 220600; phenotype.
DR   MedGen; C1857344.
DR   MeSH; D003638.
DR   MeSH; D017880.
KW   KW-0209:Deafness.
//
ID   Split-hand/foot malformation 3.
AC   DI-02327
AR   SHFM3.
DE   A limb malformation involving the central rays of the autopod and
DE   presenting with syndactyly, median clefts of the hands and feet, and
DE   aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE   metatarsals. Some patients have been found to have intellectual
DE   disability, ectodermal and craniofacial findings, and orofacial
DE   clefting.
SY   Chromosome 10q24 duplication syndrome.
SY   Limb deficiencies, distal, with micrognathia.
SY   SHSF3.
DR   MIM; 246560; phenotype.
DR   MedGen; C1838652..
DR   MedGen; C1855500.
DR   MeSH; D017880.
//
ID   Split-hand/foot malformation 4.
AC   DI-02328
AR   SHFM4.
DE   A limb malformation involving the central rays of the autopod and
DE   presenting with syndactyly, median clefts of the hands and feet, and
DE   aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE   metatarsals. Some patients have been found to have intellectual
DE   disability, ectodermal and craniofacial findings, and orofacial
DE   clefting.
DR   MIM; 605289; phenotype.
DR   MedGen; C1854442.
DR   MeSH; D017880.
//
ID   Split-hand/foot malformation 6.
AC   DI-02495
AR   SHFM6.
DE   A limb malformation involving the central rays of the autopod and
DE   presenting with syndactyly, median clefts of the hands and feet, and
DE   aplasia and/or hypoplasia of the phalanges, metacarpals, and
DE   metatarsals. Some patients have been found to have intellectual
DE   disability, ectodermal and craniofacial findings, and orofacial
DE   clefting.
SY   Ectrodactyly autosomal recessive.
DR   MIM; 225300; phenotype.
DR   MedGen; C2749665.
DR   MeSH; D017880.
//
ID   Split-hand/foot malformation with long bone deficiency 3.
AC   DI-03954
AR   SHFLD3.
DE   A disease characterized by the association of split-hand/foot
DE   malformation with long bone deficiency involving the tibia and fibula.
DE   Split-hand/foot malformation is a limb malformation involving the
DE   central rays of the autopod. Phenotypic expression is extremely
DE   variable between and within families, and even between limbs of a
DE   single patient, ranging from syndactyly and oligodactyly to the most
DE   severe monodactyly with only a single phalanx. Limb features include
DE   median clefts of the hands and feet, and aplasia and/or hypoplasia of
DE   the phalanges, metacarpals, and metatarsals.
SY   Chromosome 17p13.3, telomeric, duplication syndrome.
DR   MIM; 612576; phenotype.
DR   MedGen; C2675492.
DR   MeSH; D017880.
//
ID   Spondylo-megaepiphyseal-metaphyseal dysplasia.
AC   DI-02858
AR   SMMD.
DE   A skeletal dysplasia characterized by disproportionate short stature
DE   with a short and stiff neck and trunk, relatively long limbs that may
DE   show flexion contractures of the distal joints, delayed and impaired
DE   ossification of the vertebral bodies, the presence of large epiphyseal
DE   ossification centers and wide growth plates in the long tubular bones,
DE   and numerous pseudoepiphyses of the short tubular bones in hands and
DE   feet.
DR   MIM; 613330; phenotype.
DR   MedGen; C2750066.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Spondyloarthropathy 1.
AC   DI-02696
AR   SPDA1.
DE   A chronic rheumatic disease with multifactorial inheritance. It
DE   includes a spectrum of related disorders comprising ankylosing
DE   spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g.
DE   Reiter syndrome), arthritis associated with inflammatory bowel disease
DE   and undifferentiated spondyloarthropathy. These disorders may occur
DE   simultaneously or sequentially in the same patient, probably
DE   representing various phenotypic expressions of the same disease.
DE   Ankylosing spondylitis is the form of rheumatoid arthritis affecting
DE   the spine and is considered the prototype of seronegative
DE   spondyloarthropathies. It produces pain and stiffness as a result of
DE   inflammation of the sacroiliac, intervertebral, and costovertebral
DE   joints.
SY   Ankylosing spondylarthritis.
SY   Ankylosing spondylitis.
SY   Bechterew Syndrome.
SY   Marie-Strumpell spondylitis.
SY   Psoriatic arthritis.
SY   Reactive arthritis.
SY   Reiter syndrome.
SY   Rheumatoid spondylitis.
SY   Spondylarthritis ankylopoietica.
SY   Spondylitis ankylosans.
DR   MIM; 106300; phenotype.
DR   MedGen; C0949691.
DR   MedGen; C1862852.
DR   MeSH; D012058.
DR   MeSH; D013167.
DR   MeSH; D015535.
DR   MeSH; D016918.
//
ID   Spondylocarpotarsal synostosis syndrome.
AC   DI-02329
AR   SCT.
DE   Disorder characterized by short stature and vertebral, carpal and
DE   tarsal fusions.
SY   Congenital scoliosis with unilateral unsegmented bar.
SY   Congenital synspondylism.
SY   SCT.
SY   Spondylocarpotarsal syndrome.
SY   Vertebral fusion with carpal coalition.
DR   MIM; 272460; phenotype.
DR   MedGen; C1848934.
//
ID   Spondylocostal dysostosis 1, autosomal recessive.
AC   DI-01081
AR   SCDO1.
DE   A condition of variable severity associated with vertebral and rib
DE   segmentation defects. The main skeletal malformations include fusion
DE   of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE   malformations. Deformity of the chest and spine (severe scoliosis,
DE   kyphoscoliosis and lordosis) is a natural consequence of the
DE   malformation and leads to a dwarf-like appearance. As the thorax is
DE   small, infants frequently have respiratory insufficiency and repeated
DE   respiratory infections resulting in life-threatening complications in
DE   the first year of life.
SY   Costovertebral dysplasia.
SY   Jarcho-Levin syndrome.
SY   Spondylothoracic dysostosis.
SY   Spondylothoracic dysplasia.
DR   MIM; 277300; phenotype.
DR   MedGen; C0265343.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondylocostal dysostosis 2, autosomal recessive.
AC   DI-01082
AR   SCDO2.
DE   A condition of variable severity associated with vertebral and rib
DE   segmentation defects. The main skeletal malformations include fusion
DE   of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE   malformations. Deformity of the chest and spine (severe scoliosis,
DE   kyphoscoliosis and lordosis) is a natural consequence of the
DE   malformation and leads to a dwarf-like appearance. As the thorax is
DE   small, infants frequently have respiratory insufficiency and repeated
DE   respiratory infections resulting in life-threatening complications in
DE   the first year of life.
DR   MIM; 608681; phenotype.
DR   MedGen; C1837549.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondylocostal dysostosis 3, autosomal recessive.
AC   DI-01083
AR   SCDO3.
DE   A condition of variable severity associated with vertebral and rib
DE   segmentation defects. The main skeletal malformations include fusion
DE   of vertebrae, hemivertebrae, fusion of certain ribs, and other rib
DE   malformations. Deformity of the chest and spine (severe scoliosis,
DE   kyphoscoliosis and lordosis) is a natural consequence of the
DE   malformation and leads to a dwarf-like appearance. As the thorax is
DE   small, infants frequently have respiratory insufficiency and repeated
DE   respiratory infections resulting in life-threatening complications in
DE   the first year of life.
DR   MIM; 609813; phenotype.
DR   MedGen; C1853296.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondylocostal dysostosis 4, autosomal recessive.
AC   DI-02536
AR   SCDO4.
DE   A rare condition of variable severity characterized by vertebral and
DE   costal anomalies. The main feature include dwarfism, vertebral fusion,
DE   hemivertebrae, posterior rib fusion, reduced rib number, and other rib
DE   malformations.
DR   MIM; 613686; phenotype.
DR   MedGen; C3150942.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondylocostal dysostosis 5.
AC   DI-04021
AR   SCDO5.
DE   A rare condition of variable severity characterized by vertebral and
DE   costal anomalies. The main feature include dwarfism, vertebral fusion,
DE   hemivertebrae, posterior rib fusion, reduced rib number, and other rib
DE   malformations. SCDO5 inheritance can be autosomal dominant or
DE   recessive.
SY   Costovertebral segmentation anomalies.
SY   Scoliosis, congenital, with or without rib anomalies.
SY   Spondylocostal dysplasia.
SY   Spondylothoracic dysostosis.
SY   TACS.
DR   MIM; 122600; phenotype.
DR   MedGen; C4083048.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondylocostal dysostosis 6, autosomal recessive.
AC   DI-04516
AR   SCDO6.
DE   A form of spondylocostal dysostosis, a condition of variable severity
DE   associated with vertebral and rib segmentation defects. The main
DE   skeletal malformations include fusion of vertebrae, hemivertebrae,
DE   fusion of certain ribs, and other rib malformations. Deformity of the
DE   chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a
DE   natural consequence of the malformation and leads to a dwarf-like
DE   appearance. As the thorax is small, infants frequently have
DE   respiratory insufficiency and repeated respiratory infections
DE   resulting in life-threatening complications in the first year of life.
DR   MIM; 616566; phenotype.
DR   MedGen; CN232941.
DR   MeSH; D004413.
KW   KW-0242:Dwarfism.
//
ID   Spondyloenchondrodysplasia with immune dysregulation.
AC   DI-03197
AR   SPENCDI.
DE   A disease characterized by vertebral and metaphyseal dysplasia,
DE   spasticity with cerebral calcifications, and strong predisposition to
DE   autoimmune diseases. The skeletal dysplasia is characterized by
DE   radiolucent and irregular spondylar and metaphyseal lesions that
DE   represent islands of chondroid tissue within bone.
SY   Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia.
SY   Roifman immunoskeletal syndrome.
SY   SPENCD.
DR   MIM; 607944; phenotype.
DR   MedGen; C1842763.
DR   MeSH; D001327.
DR   MeSH; D010009.
//
ID   Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures.
AC   DI-03845
AR   SEMDJL1.
DE   A bone disease characterized by vertebral abnormalities and
DE   ligamentous laxity that result in spinal misalignment and progressive
DE   severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise
DE   resulting in early death. Additional skeletal features include elbow
DE   deformities with radial head dislocation, dislocated hips, clubfeet,
DE   and tapered fingers with spatulate distal phalanges. Many affected
DE   children have an oval face, flat midface, prominent eyes with blue
DE   sclerae, and a long philtrum. Palatal abnormalities and congenital
DE   heart disease are also observed.
SY   SEMDJL-Beighton type.
SY   Spondyloepimetaphyseal dysplasia with joint laxity Beighton type.
DR   MIM; 271640; phenotype.
DR   MedGen; C0432243.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia with joint laxity, 2.
AC   DI-03363
AR   SEMDJL2.
DE   A bone disease characterized by short stature, distinctive midface
DE   retrusion, progressive knee malalignment (genu valgum and/or varum),
DE   generalized ligamentous laxity, and mild spinal deformity.
DE   Intellectual development is not impaired. Radiographic characteristics
DE   include significantly retarded epiphyseal ossification that evolves
DE   into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal
DE   irregularities and vertical striations, constricted femoral neck,
DE   slender metacarpals and metatarsals, and mild thoracolumbar kyphosis
DE   or scoliosis with normal or mild platyspondyly. The most distinctive
DE   features for differential diagnosis of SEMDJL2 are the slender
DE   metacarpals and phalanges and the progressive degeneration of carpal
DE   bones; however, these 2 features are evident only in older children
DE   and young adults. The soft consistency of cartilage in the airways
DE   leads to laryngotracheomalacia with proneness to respiratory
DE   obstruction and inspiratory stridor in infancy and childhood.
SY   Lepto-SEMDJL.
SY   Spondyloepimetaphyseal dysplasia with joint laxity Hall type.
SY   Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type.
SY   Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type.
DR   MIM; 603546; phenotype.
DR   MedGen; C1863732.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia with joint laxity, 3.
AC   DI-05541
AR   SEMDJL3.
DE   An autosomal recessive bone disease characterized by multiple joint
DE   dislocations at birth, severe joint laxity, scoliosis, gracile
DE   metacarpals and metatarsals, delayed bone age and poorly ossified
DE   carpal and tarsal bones.
DR   MIM; 618395; phenotype.
DR   MedGen; CN258292.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, aggrecan type.
AC   DI-02539
AR   SEMDAG.
DE   A bone disease characterized by severe short stature, macrocephaly,
DE   severe midface hypoplasia, short neck, barrel chest and brachydactyly.
DE   The radiological findings comprise long bones with generalized
DE   irregular epiphyses with widened metaphyses, especially at the knees,
DE   platyspondyly, and multiple cervical-vertebral clefts.
SY   SEMD aggrecan type.
DR   MIM; 612813; phenotype.
DR   MedGen; C2748544.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type.
AC   DI-02330
AR   SEMDBCD.
DE   An autosomal recessive bone disease characterized by disproportionate
DE   early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and
DE   normal hands. Skeletal abnormalities include short, wide and stocky
DE   long bones with severe epiphyseal and metaphyseal changes, hypoplastic
DE   iliac bones and flat, ovoid vertebral bodies.
SY   Matrilin-3 related SEMD.
SY   SEMD, matrilin-3 type.
SY   Spondyloepimetaphyseal dysplasia bowed-legs type.
SY   Spondyloepimetaphyseal dysplasia matrilin-3 type.
SY   Spondylo-epi-metaphyseal dysplasia matrilin 3 type.
SY   Spondylometaepiphyseal dysplasia matrilin-3 type.
DR   MIM; 608728; phenotype.
DR   MedGen; C1837481.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Di Rocco type.
AC   DI-05247
AR   SEMDDR.
DE   A skeletal disorder characterized by short stature, joint pain, genu
DE   vara and spondyloepimetaphyseal dysplasia involving the hips, knees,
DE   ankles, wrists and hands. Patients also exhibit variable degrees of
DE   metaphysis and spine involvement. SEMDDR transmission pattern is
DE   consistent with autosomal dominant inheritance.
DR   MIM; 617974; phenotype.
DR   MedGen; CN244923.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.
AC   DI-04587
AR   SEMDFA.
DE   An autosomal recessive skeletal disorder characterized by
DE   spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism,
DE   short fourth metatarsals, and intellectual disability.
DR   MIM; 616723; phenotype.
DR   MedGen; CN234661.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Spondyloepimetaphyseal dysplasia, Genevieve type.
AC   DI-04730
AR   SEMDG.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay with infantile onset, intellectual disability, skeletal
DE   dysplasia, and short stature. Skeletal findings include flat vertebral
DE   bodies with irregular vertebral plates, irregular and flared
DE   metaphyses with vertical striations, small and irregular epiphyses,
DE   premature carpal ossification and small carpal bones.
SY   NANS deficiency.
SY   SEMD Genevieve type.
DR   MIM; 610442; phenotype.
DR   MedGen; C1864872.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Spondyloepimetaphyseal dysplasia, Isidor-Toutain type.
AC   DI-05729
AR   SEMDIST.
DE   An autosomal dominant bone disease characterized by early postnatal
DE   growth deficiency, severe short stature, genu varum, platyspondyly and
DE   severe epiphyseal and metaphyseal changes in the lower limbs.
DR   MIM; 618728; phenotype.
DR   MedGen; CN263114.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Krakow type.
AC   DI-05362
AR   SEMDK.
DE   An autosomal recessive skeletal disorder characterized by severe
DE   spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with
DE   significant anterior bowing of all limbs, severe immunodeficiency, and
DE   developmental delay.
SY   Immunoosseous dysplasia, Krakow type.
DR   MIM; 618162; phenotype.
DR   MedGen; CN257750.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Missouri type.
AC   DI-02332
AR   SEMDM.
DE   A bone disease characterized by moderate to severe metaphyseal
DE   changes, mild epiphyseal involvement, rhizomelic shortening of the
DE   lower limbs with bowing of the femora and/or tibiae, coxa vara, genu
DE   varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes
DE   improve with age.
SY   SEMD-MO.
SY   Spondyloepimetaphyseal dysplasia type 2.
SY   Spondyloepimetaphyseal dysplasia type Missouri.
SY   Spondylometaepiphyseal dysplasia type Missouri.
DR   MIM; 602111; phenotype.
DR   MedGen; C1865832.
DR   MeSH; D001848.
//
ID   Spondyloepimetaphyseal dysplasia, Shohat type.
AC   DI-05181
AR   SEMDSH.
DE   An autosomal recessive skeletal dysplasia that affects cartilage
DE   development. It is characterized by vertebral, epiphyseal, and
DE   metaphyseal abnormalities, including scoliosis with vertebral
DE   compression fractures, flattened vertebral bodies, and
DE   hypomineralization of long bones. Affected individuals may exhibit a
DE   small trunk, short neck, small limbs, joint laxity, bowlegs, and/or
DE   abdominal distension with hepatosplenomegaly.
SY   SEMD, Shohat type.
DR   MIM; 602557; phenotype.
DR   MedGen; C1865185.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, short limb-hand type.
AC   DI-02538
AR   SEMD-SL.
DE   A bone disease characterized by short-limbed dwarfism, a narrow chest
DE   with pectus excavatum, brachydactyly in the hands and feet, a
DE   characteristic craniofacial appearance and premature calcifications.
DE   The radiological findings are distinctive and comprise short long
DE   bones throughout the skeleton with striking epiphyses that are
DE   stippled, flattened and fragmented and flared, irregular metaphyses.
DE   Platyspondyly in the spine with wide intervertebral spaces is observed
DE   and some vertebral bodies are pear-shaped with central humps, anterior
DE   protrusions and posterior scalloping.
SY   SMED short limb-abnormal calcification type.
SY   SMED short limb-hand type.
SY   SMED-SL.
SY   SMED-SL/AC.
SY   SMED type II.
SY   Spondylometaepiphyseal dysplasia short limb-abnormal calcification type.
SY   Spondylometaepiphyseal dysplasia short limb-hand type.
DR   MIM; 271665; phenotype.
DR   MedGen; C1849011.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, sponastrime type.
AC   DI-05624
AR   SEMDSP.
DE   An autosomal recessive bone disease characterized by spine
DE   abnormalities, mid-face hypoplasia with a depressed nasal bridge, and
DE   striation of the metaphyses. Additional features include
DE   disproportionate short stature with exaggerated lumbar lordosis,
DE   scoliosis, coxa vara, limited elbow extension, small dysplastic
DE   epiphyses, childhood cataracts, short dental roots, and
DE   hypogammaglobulinemia. Disease severity and clinical manifestations
DE   are variable. Some patients have intellectual disability.
SY   Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation.
SY   Sponastrime dysplasia.
SY   Spondylar and nasal alterations with striated metaphyses.
DR   MIM; 271510; phenotype.
DR   MedGen; C1300260.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, Strudwick type.
AC   DI-02343
AR   SEMDSTWK.
DE   A bone disease characterized by disproportionate short stature from
DE   birth, with a very short trunk and shortened limbs, and skeletal
DE   abnormalities including lordosis, scoliosis, flattened vertebrae,
DE   pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or
DE   metaphyses. A distinctive radiographic feature is irregular sclerotic
DE   changes, described as dappled in the metaphyses of the long bones.
SY   Dappled metaphysis syndrome.
SY   SEMD, Strudwick type.
SY   SEMDC.
SY   SMD.
SY   SMED, Strudwick type.
SY   SMED type 1.
SY   SMED type I.
SY   Spondyloepiphyseal dysplasia congenita with dappled metaphyses.
SY   Spondylometaepiphyseal dysplasia congenita, Strudwick type.
SY   Spondylometaphyseal dysplasia.
SY   Strudwick syndrome.
DR   MIM; 184250; phenotype.
DR   MedGen; C0700635.
DR   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, X-linked.
AC   DI-04786
AR   SEMDX.
DE   An X-linked recessive bone disease characterized by severe short-trunk
DE   dwarfism, brachydactyly, metaphyseal flaring of lower extremities,
DE   short and broad long bone diaphyses, moderate platyspondyly, normal
DE   facies, and normal intelligence.
SY   SEMD, X-linked.
DR   MIM; 300106; phenotype.
DR   MedGen; C1848097.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy.
AC   DI-05710
AR   SEMDHL.
DE   An X-linked recessive developmental disorder characterized by slowly
DE   progressive skeletal and neurologic abnormalities, including short
DE   stature, large and deformed joints, significant motor impairment,
DE   visual defects, and sometimes cognitive deficits. Affected individuals
DE   typically have normal early development in the first year or so of
DE   life, followed by development regression and the development of
DE   symptoms. Brain imaging shows white matter abnormalities consistent
DE   with hypomyelinating leukodystrophy.
DR   MIM; 300232; phenotype.
DR   MedGen; C1846148.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepiphyseal dysplasia congenital type.
AC   DI-02333
AR   SEDC.
DE   Disorder characterized by disproportionate short stature and
DE   pleiotropic involvement of the skeletal and ocular systems.
DR   MIM; 183900; phenotype.
DR   MedGen; C0038015.
DR   MedGen; C2745959.
//
ID   Spondyloepiphyseal dysplasia Maroteaux type.
AC   DI-02969
AR   SEDM.
DE   A clinically variable spondyloepiphyseal dysplasia with manifestations
DE   limited to the musculoskeletal system. Clinical features include short
DE   stature, brachydactyly, platyspondyly, short and stubby hands and
DE   feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia.
DE   Intelligence is normal.
SY   Pseudo-Morquio syndrome type 2.
SY   SED Maroteaux type.
DR   MIM; 184095; phenotype.
DR   MedGen; C3159322.
DR   MeSH; D010009.
//
ID   Spondyloepiphyseal dysplasia tarda.
AC   DI-02335
AR   SEDT.
DE   X-linked recessive disorder of endochondral bone formation.
DR   MIM; 313400; phenotype.
DR   MedGen; C0220776.
DR   MedGen; C3541456.
//
ID   Spondyloepiphyseal dysplasia type Kimberley.
AC   DI-02336
AR   SEDK.
DE   Spondyloepiphyseal dysplasias are a heterogeneous group of congenital
DE   chondrodysplasias that specifically affect epiphyses and vertebrae.
DE   The autosomal dominant SEDK is associated with premature degenerative
DE   arthropathy.
DR   MIM; 608361; phenotype.
DR   MedGen; C1842149.
//
ID   Spondyloepiphyseal dysplasia with congenital joint dislocations.
AC   DI-01753
AR   SEDCJD.
DE   A bone dysplasia clinically characterized by dislocation of the knees
DE   and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation
DE   and limited extension, short stature, and progressive kyphosis
DE   developing in late childhood. The disorder is usually evident at
DE   birth, with short stature and multiple joint dislocations or
DE   subluxations that dominate the neonatal clinical and radiographic
DE   picture. During childhood, the dislocations improve, both
DE   spontaneously and with surgical treatment, and features of
DE   spondyloepiphyseal dysplasia become apparent, leading to arthritis of
DE   the hips and spine with intervertebral disk degeneration, rigid
DE   kyphoscoliosis, and trunk shortening by late childhood.
SY   HSD.
SY   Humerospinal dysostosis.
SY   SED Omani type.
SY   Spondyloepiphyseal dysplasia Omani type.
DR   MIM; 143095; phenotype.
DR   MedGen; C1837657.
DR   MedGen; C1840471.
DR   MeSH; D010009.
//
ID   Spondyloepiphyseal dysplasia, Kondo-Fu type.
AC   DI-05540
AR   SEDKF.
DE   A disorder characterized by severely retarded growth,
DE   spondyloepiphyseal dysplasia, reduced bone mineral density, and
DE   markedly elevated plasma levels of various lysosomal enzymes.
DE   Additional features include pectus carinatum, kyphosis, a waddling
DE   gait, brachydactyly and dysmorphic facial features. SEDKF transmission
DE   pattern is consistent with autosomal recessive inheritance.
SY   SED with elevated blood lysosomal enzymes.
DR   MIM; 618392; phenotype.
DR   MedGen; CN258288.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis.
AC   DI-06074
AR   SHILCA.
DE   An autosomal recessive disorder characterized by early-onset retinal
DE   degeneration, sensorineural hearing loss, short stature due to
DE   spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain
DE   imaging shows abnormalities including delayed myelination,
DE   leukoencephalopathy, and cerebellar hypoplasia.
SY   Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis.
DR   MIM; 619260; phenotype.
DR   MedGen; CN296249.
DR   MeSH; D002493.
DR   MeSH; D006319.
DR   MeSH; D010009.
DR   MeSH; D057130.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0901:Leber congenital amaurosis.
KW   KW-0991:Intellectual disability.
//
ID   Spondyloepiphyseal dysplasia, Stanescu type.
AC   DI-04552
AR   SEDSTN.
DE   An autosomal dominant spondyloepiphyseal dysplasia characterized by
DE   glycoproteins accumulation in chondrocytes. Clinical features include
DE   progressive joint contractures, premature degenerative joint disease
DE   particularly in the knee, hip and finger joints, and osseous
DE   distention of the metaphyseal ends of the phalanges causing swolling
DE   of interphalangeal joints of the hands. Radiological features include
DE   generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening
DE   with metaphyseal splaying of the long bones, and enlarged phalangeal
DE   epimetaphyses of the hands.
SY   SED, Stanescu type.
DR   MIM; 616583; phenotype.
DR   MedGen; CN233075.
DR   MeSH; D010009.
//
ID   Spondylometaphyseal dysplasia Kozlowski type.
AC   DI-02480
AR   SMDK.
DE   A form of spondylometaphyseal dysplasia, a group of short stature
DE   disorders distinguished by abnormalities in the vertebrae and the
DE   metaphyses of the tubular bones. It is characterized by postnatal
DE   dwarfism, significant scoliosis and mild metaphyseal abnormalities in
DE   the pelvis. The vertebrae exhibit platyspondyly and overfaced
DE   pedicles.
SY   SMD Kozlowski type.
DR   MIM; 184252; phenotype.
DR   MedGen; C0265280.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia with cone-rod dystrophy.
AC   DI-04061
AR   SMDCRD.
DE   A disorder characterized by postnatal growth deficiency resulting in
DE   profound short stature, rhizomelia with bowing of the lower
DE   extremities, platyspondyly with anterior vertebral protrusions,
DE   progressive metaphyseal irregularity and cupping with shortened
DE   tubular bones, and early-onset progressive visual impairment
DE   associated with a pigmentary maculopathy and electroretinographic
DE   evidence of cone-rod dysfunction.
DR   MIM; 608940; phenotype.
DR   MedGen; C1837073.
DR   MeSH; D010009.
DR   MeSH; D012174.
KW   KW-0182:Cone-rod dystrophy.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia with corneal dystrophy.
AC   DI-05885
AR   SMDCD.
DE   An autosomal recessive disorder characterized by postnatal growth
DE   deficiency, profound limb shortening with proximal and distal segments
DE   involvement, narrow chest, radiological abnormalities involving the
DE   spine, pelvis and metaphyses, corneal clouding, and intellectual
DE   disability.
DR   MIM; 618961; phenotype.
DR   MedGen; CN283284.
DR   MeSH; D003317.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia, axial.
AC   DI-05025
AR   SMDAX.
DE   A form of spondylometaphyseal dysplasia, a group of short stature
DE   disorders distinguished by abnormalities in the vertebrae and the
DE   metaphyses of the tubular bones. SMDAX is characterized by metaphyseal
DE   changes of truncal-juxtatruncal bones, including the proximal femora.
DE   Main clinical features are postnatal growth failure, rhizomelic short
DE   stature in early childhood evolving into short trunk in late
DE   childhood, and thoracic hypoplasia that may cause mild to moderate
DE   respiratory problems in the neonatal period and later susceptibility
DE   to airway infection. Impaired visual acuity comes to medical attention
DE   in early life and function rapidly deteriorates. Retinal changes are
DE   diagnosed as retinitis pigmentosa or pigmentary retinal degeneration
DE   on fundoscopic examination and cone-rod dystrophy on
DE   electroretinogram. The radiological hallmarks include short ribs with
DE   flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac
DE   crests, and metaphyseal irregularities essentially confined to the
DE   proximal femora.
DR   MIM; 602271; phenotype.
DR   MedGen; C1865695.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia, corner fracture type.
AC   DI-05167
AR   SMDCF.
DE   An autosomal dominant form of spondylometaphyseal dysplasia, a group
DE   of short stature disorders distinguished by abnormalities in the
DE   vertebrae and the metaphyses of the tubular bones. SMDCF is
DE   characterized by flake-like, triangular, or curvilinear ossification
DE   centers at the edges of irregular metaphyses that simulate fractures.
DE   These corner fractures involve the distal tibia, the ulnar aspect of
DE   the distal radius, the proximal humerus, and the proximal femur. They
DE   represent irregular ossification at the growth plates and secondary
DE   ossification centers.
SY   Spondylometaphyseal dysplasia, Sutcliffe type.
SY   Sutcliffe type of spondylometaphyseal dysplasia.
DR   MIM; 184255; phenotype.
DR   MedGen; C0432221.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type.
AC   DI-04374
AR   SMDMDM.
DE   An autosomal recessive disease characterized by pre- and postnatal
DE   short stature, developmental delay, dysmorphic facial appearance,
DE   narrow chest, prominent abdomen, platyspondyly, and short limbs.
SY   Chondrodysplasia, Megarbane-Dagher-Melike type.
DR   MIM; 613320; phenotype.
DR   MedGen; C2750075.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia, Pagnamenta type.
AC   DI-06277
AR   SMDP.
DE   A form of spondylometaphyseal dysplasia, a group of short stature
DE   disorders distinguished by abnormalities in the vertebrae and the
DE   metaphyses of the tubular bones. SMDP is an autosomal recessive form
DE   characterized by short stature and mild platyspondyly with no
DE   disproportion between the limbs. Mild metaphyseal changes are present.
DR   MIM; 619638; phenotype.
DR   MedGen; CN304775.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondylometaphyseal dysplasia, Sedaghatian type.
AC   DI-04167
AR   SMDS.
DE   A form of spondylometaphyseal dysplasia, a group of short stature
DE   disorders distinguished by abnormalities in the vertebrae and the
DE   metaphyses of the tubular bones. SMDS is a neonatal lethal form
DE   characterized by severe metaphyseal chondrodysplasia with mild limb
DE   shortening, platyspondyly, cardiac conduction defects, and central
DE   nervous system abnormalities.
SY   Congenital lethal metaphyseal chondrodysplasia.
SY   Sedaghatian chondrodysplasia.
DR   MIM; 250220; phenotype.
DR   MedGen; C1855229.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Spondyloocular syndrome.
AC   DI-04546
AR   SOS.
DE   A syndrome characterized by cataract, loss of vision due to retinal
DE   detachment, facial dysmorphism, facial hypotonia, normal height with
DE   disproportional short trunk, osteoporosis, immobile spine with
DE   thoracic kyphosis and reduced lumbal lordosis.
DR   MIM; 605822; phenotype.
DR   MedGen; C1853925.
DR   MeSH; D002386.
DR   MeSH; D010009.
DR   MeSH; D015785.
DR   MeSH; D019465.
//
ID   Spondyloperipheral dysplasia.
AC   DI-02337
AR   SPD.
DE   SPD patients manifest short stature, midface hypoplasia, sensorineural
DE   hearing loss, spondyloepiphyseal dysplasia, platyspondyly and
DE   brachydactyly.
DR   MIM; 271700; phenotype.
DR   MedGen; C0796173.
//
ID   Spongiform encephalopathy with neuropsychiatric features.
AC   DI-02210
AR   SENF.
DE   Autosomal dominant presenile dementia with a rapidly progressive and
DE   protracted clinical course. The dementia was characterized clinically
DE   by frontotemporal features, including early personality changes. Some
DE   patients had memory loss, several showed aggressiveness, hyperorality
DE   and verbal stereotypy, others had parkinsonian symptoms.
DR   MIM; 606688; phenotype.
DR   MedGen; C1847650.
//
ID   Squalene synthase deficiency.
AC   DI-05357
AR   SQSD.
DE   An autosomal recessive disorder characterized by profound
DE   developmental delay, brain abnormalities, 2/3 syndactyly of the toes,
DE   facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine
DE   organic acids.
SY   Neurodevelopmental disorder with low cholesterol and abnormal urine organic acids.
DR   MIM; 618156; phenotype.
DR   MedGen; CN257746.
DR   MeSH; D008661.
//
ID   Squamous cell carcinoma of the head and neck.
AC   DI-01696
AR   HNSCC.
DE   A non-melanoma skin cancer affecting the head and neck. The hallmark
DE   of cutaneous SCC is malignant transformation of normal epidermal
DE   keratinocytes.
DR   MIM; 275355; phenotype.
DR   MedGen; C1168401.
DR   MeSH; D002294.
//
ID   Stankiewicz-Isidor syndrome.
AC   DI-05014
AR   STISS.
DE   A neurodevelopmental disorder characterized by delayed psychomotor
DE   development, intellectual disability, behavioral disorders, mild
DE   dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness,
DE   and variable congenital malformations of the cardiac and/or urogenital
DE   systems.
DR   MIM; 617516; phenotype.
DR   MedGen; CN249119.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Stapes ankylosis with broad thumb and toes.
AC   DI-02339
AR   SABTS.
DE   An autosomal dominant disorder characterized by hyperopia, a
DE   hemicylindrical nose, broad thumbs, great toes, and other minor
DE   skeletal anomalies but lacked carpal and tarsal fusion and
DE   symphalangism.
SY   Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly.
SY   Stapes ankylosis syndrome without symphalangism.
SY   Teunissen-Cremers syndrome.
DR   MIM; 184460; phenotype.
DR   MedGen; C1866656.
DR   MeSH; D009140.
//
ID   Stargardt disease 1.
AC   DI-01084
AR   STGD1.
DE   A common hereditary macular degeneration. It is characterized by
DE   decreased central vision, atrophy of the macula and underlying retinal
DE   pigment epithelium, and frequent presence of prominent flecks in the
DE   posterior pole of the retina.
SY   Juvenile macular degeneration.
SY   Macular dystrophy with flecks type 1.
SY   Stargardt's disease.
DR   MIM; 248200; phenotype.
DR   MedGen; C1855465.
DR   MedGen; C1858080.
DR   MeSH; D003317.
KW   KW-0751:Stargardt disease.
//
ID   Stargardt disease 3.
AC   DI-01085
AR   STGD3.
DE   A common hereditary macular degeneration. It is characterized by
DE   decreased central vision, atrophy of the macula and underlying retinal
DE   pigment epithelium, and frequent presence of prominent flecks in the
DE   posterior pole of the retina.
SY   Macular dystrophy autosomal dominant chromosome 6-linked.
SY   Macular dystrophy with flecks type 3.
SY   Stargardt-like macular dystrophy.
DR   MIM; 600110; phenotype.
DR   MedGen; C1838644.
DR   MeSH; D003317.
KW   KW-0751:Stargardt disease.
//
ID   Stargardt disease 4.
AC   DI-01086
AR   STGD4.
DE   A common hereditary macular degeneration. It is characterized by
DE   decreased central vision, atrophy of the macula and underlying retinal
DE   pigment epithelium, and frequent presence of prominent flecks in the
DE   posterior pole of the retina.
DR   MIM; 603786; phenotype.
DR   MedGen; C1863534.
DR   MeSH; D003317.
KW   KW-0751:Stargardt disease.
//
ID   Steatocystoma multiplex.
AC   DI-02341
AR   SM.
DE   Disease characterized by round or oval cystic tumors widely
DE   distributed on the back, anterior trunk, arms, scrotum, and thighs.
DR   MIM; 184500; phenotype.
DR   MedGen; C0259771.
//
ID   Steel syndrome.
AC   DI-04187
AR   STLS.
DE   A syndrome characterized by dislocated hips and radial heads, fusion
DE   of carpal bones, short stature, scoliosis, and cervical spine
DE   anomalies. Facial features include prominent forehead, long oval-
DE   shaped face, hypertelorism and broad nasal bridge.
SY   Dislocated hips and radial heads, carpal coalition, scoliosis, and short stature.
DR   MIM; 615155; phenotype.
DR   MedGen; C3554594.
DR   MedGen; CN168955.
DR   MeSH; D004392.
DR   MeSH; D006228.
DR   MeSH; D006617.
DR   MeSH; D012600.
KW   KW-0242:Dwarfism.
//
ID   Stevens-Johnson syndrome.
AC   DI-02879
AR   SJS.
DE   A rare blistering mucocutaneous disease that share clinical and
DE   histopathologic features with toxic epidermal necrolysis. Both
DE   disorders are characterized by high fever, malaise, and a rapidly
DE   developing blistering exanthema of macules and target-like lesions
DE   accompanied by mucosal involvement. Stevens-Johnson syndrome is a
DE   milder disease characterized by destruction and detachment of the skin
DE   epithelium and mucous membranes involving less than 10% of the body
DE   surface area. Ocular symptoms include ulcerative conjunctivitis,
DE   keratitis, iritis, uveitis and sometimes blindness. It can be caused
DE   by a severe adverse reaction to particular types of medication,
DE   although Mycoplasma infections may induce some cases.
SY   Dermatostomatitis Stevens Johnson type.
SY   TEN.
SY   Toxic epidermal necrolysis.
DR   MIM; 608579; phenotype.
DR   MedGen; C1837818.
DR   MedGen; C1840548.
DR   MedGen; C2608081.
DR   MedGen; C3277286.
DR   MeSH; D013262.
//
ID   Stickler syndrome 1.
AC   DI-01090
AR   STL1.
DE   An autosomal dominant form of Stickler syndrome, an inherited disorder
DE   that associates ocular signs with more or less complete forms of
DE   Pierre Robin sequence, bone disorders and sensorineural deafness.
DE   Ocular disorders may include juvenile cataract, myopia, strabismus,
DE   vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE   chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE   of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE   small lower jaw (micrognathia). Bones are affected by slight
DE   platyspondylisis and large, often defective epiphyses. Juvenile joint
DE   laxity is followed by early signs of arthrosis. The degree of hearing
DE   loss varies among affected individuals and may become more severe over
DE   time. Syndrome expressivity is variable.
SY   AOM.
SY   Arthro-ophthalmopathy hereditary progressive.
SY   Stickler syndrome membranous vitreous type.
SY   Stickler syndrome type I.
SY   Stickler syndrome vitreous type 1.
DR   MIM; 108300; phenotype.
DR   MedGen; C0265253.
DR   MedGen; CN032634.
DR   MeSH; D003240.
DR   MeSH; D005128.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Stickler syndrome 1 non-syndromic ocular.
AC   DI-01091
AR   STL1O.
DE   An autosomal dominant form of Stickler syndrome characterized by the
DE   ocular signs typically seen in Stickler syndrome type 1 such as
DE   cataract, myopia, retinal detachment. Systemic features of premature
DE   osteoarthritis, cleft palate, hearing impairment, and craniofacial
DE   abnormalities are either absent or very mild.
SY   Stickler syndrome atypical.
SY   Stickler syndrome predominantly ocular.
SY   Wagner syndrome 2.
DR   MIM; 609508; phenotype.
DR   MedGen; C1836080.
DR   MeSH; D003240.
DR   MeSH; D012163.
KW   KW-0757:Stickler syndrome.
//
ID   Stickler syndrome 2.
AC   DI-01092
AR   STL2.
DE   An autosomal dominant form of Stickler syndrome, an inherited disorder
DE   that associates ocular signs with more or less complete forms of
DE   Pierre Robin sequence, bone disorders and sensorineural deafness.
DE   Ocular disorders may include juvenile cataract, myopia, strabismus,
DE   vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE   chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE   of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE   small lower jaw (micrognathia). Bones are affected by slight
DE   platyspondylisis and large, often defective epiphyses. Juvenile joint
DE   laxity is followed by early signs of arthrosis. The degree of hearing
DE   loss varies among affected individuals and may become more severe over
DE   time. Syndrome expressivity is variable.
SY   Stickler syndrome beaded vitreous type.
SY   Stickler syndrome type II.
SY   Stickler syndrome vitreous type 2.
DR   MIM; 604841; phenotype.
DR   MedGen; C1858084.
DR   MeSH; D003240.
DR   MeSH; D005128.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Stickler syndrome 4.
AC   DI-01089
AR   STL4.
DE   An autosomal recessive form of Stickler syndrome, an inherited
DE   disorder that associates ocular signs with more or less complete forms
DE   of Pierre Robin sequence, bone disorders and sensorineural deafness.
DE   Ocular disorders may include juvenile cataract, myopia, strabismus,
DE   vitreoretinal or chorioretinal degeneration, retinal detachment, and
DE   chronic uveitis. Pierre Robin sequence includes an opening in the roof
DE   of the mouth (a cleft palate), a large tongue (macroglossia), and a
DE   small lower jaw (micrognathia). Bones are affected by slight
DE   platyspondylisis and large, often defective epiphyses. Juvenile joint
DE   laxity is followed by early signs of arthrosis. The degree of hearing
DE   loss varies among affected individuals and may become more severe over
DE   time. Syndrome expressivity is variable.
DR   MIM; 614134; phenotype.
DR   MedGen; C1852831.
DR   MedGen; C3279941.
DR   MeSH; D003240.
DR   MeSH; D005128.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Stickler syndrome 5.
AC   DI-03280
AR   STL5.
DE   An autosomal recessive form of Stickler syndrome, an inherited
DE   disorder that associates ocular signs with more or less complete forms
DE   of Pierre Robin sequence, bone disorders and sensorineural deafness.
DE   STL5 is characterized by high myopia, vitreoretinal degeneration,
DE   retinal detachment, mild to moderate sensorineural hearing loss, short
DE   stature in childhood, and absence of cleft palate and Pierre Robin
DE   sequence.
DR   MIM; 614284; phenotype.
DR   MedGen; C3280342.
DR   MedGen; CN116437.
DR   MeSH; D003240.
DR   MeSH; D005128.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Stickler syndrome 6.
AC   DI-06492
AR   STL6.
DE   A form of Stickler syndrome, an inherited disorder that associates
DE   ocular signs with more or less complete forms of Pierre Robin
DE   sequence, bone disorders and sensorineural deafness. Ocular disorders
DE   may include juvenile cataract, myopia, strabismus, vitreoretinal or
DE   chorioretinal degeneration, retinal detachment, and chronic uveitis.
DE   Pierre Robin sequence includes an opening in the roof of the mouth (a
DE   cleft palate), a large tongue (macroglossia), and a small lower jaw
DE   (micrognathia). Bones are affected by slight platyspondyly and large,
DE   often defective epiphyses. Juvenile joint laxity is followed by early
DE   signs of arthrosis. The degree of hearing loss varies among affected
DE   individuals and may become more severe over time. STL6 is an autosomal
DE   recessive form characterized by early-onset progressive hearing loss
DE   and progressive myopia, with variable manifestation of facial
DE   dysmorphism and skeletal anomalies.
SY   Stickler syndrome, type VI.
DR   MIM; 620022; phenotype.
DR   MedGen; CN315969.
DR   MeSH; D003240.
DR   MeSH; D005128.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0757:Stickler syndrome.
//
ID   Stiff skin syndrome.
AC   DI-02823
AR   SSKS.
DE   A syndrome characterized by hard, thick skin, usually over the entire
DE   body, which limits joint mobility and causes flexion contractures.
DE   Other occasional findings include lipodystrophy and muscle weakness.
DR   MIM; 184900; phenotype.
DR   MedGen; C1861456.
DR   MeSH; D012873.
//
ID   STING-associated vasculopathy, infantile-onset.
AC   DI-04179
AR   SAVI.
DE   An autoinflammatory disease characterized by early-onset systemic
DE   inflammation and cutaneous vasculopathy, resulting in severe skin
DE   lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks
DE   and ears progress to acral necrosis in most of the patients. Some
DE   patients have severe interstitial lung disease.
SY   Autoinflammatory-vasculopathy syndrome.
DR   MIM; 615934; phenotype.
DR   MedGen; CN207620.
DR   MeSH; D017445.
DR   MeSH; D056660.
//
ID   Stomatin-deficient cryohydrocytosis with neurologic defects.
AC   DI-04611
AR   SDCHCN.
DE   A rare form of stomatocytosis characterized by episodic hemolytic
DE   anemia, cold-induced red cells cation leak, erratic hyperkalemia,
DE   neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures,
DE   intellectual disability, and movement disorder.
SY   GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis.
DR   MIM; 608885; phenotype.
DR   MedGen; C1837206.
DR   MeSH; D000745.
KW   KW-0360:Hereditary hemolytic anemia.
KW   KW-0887:Epilepsy.
KW   KW-0898:Cataract.
KW   KW-0991:Intellectual disability.
//
ID   Stormorken syndrome.
AC   DI-04155
AR   STRMK.
DE   A rare autosomal dominant disease characterized by mild bleeding
DE   tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia,
DE   tubular aggregate myopathy, miosis, headache, and ichthyosis.
SY   Thrombocytopathy, asplenia, and miosis.
SY   York platelet syndrome.
SY   YPS.
DR   MIM; 185070; phenotype.
DR   MedGen; C1850709.
DR   MeSH; D001791.
DR   MeSH; D007057.
DR   MeSH; D015877.
DR   MeSH; D020914.
//
ID   Striatal degeneration, autosomal dominant 1.
AC   DI-02813
AR   ADSD1.
DE   A movement disorder affecting the striatal part of the basal ganglia
DE   and characterized by bradykinesia, dysarthria and muscle rigidity.
DE   These symptoms resemble idiopathic Parkinson disease, but tremor is
DE   not present.
DR   MIM; 609161; phenotype.
DR   MedGen; C1836694.
DR   MeSH; D001480.
//
ID   Striatal degeneration, autosomal dominant 2.
AC   DI-04708
AR   ADSD2.
DE   An autosomal dominant disorder characterized by striatal degeneration
DE   and dysfunction of basal ganglia, resulting in hyperkinesis.
DR   MIM; 616922; phenotype.
DR   MedGen; CN236399.
DR   MeSH; D001480.
DR   MeSH; D006948.
//
ID   Striatonigral degeneration, childhood-onset.
AC   DI-04778
AR   SNDC.
DE   An autosomal recessive neurological disorder characterized by sudden
DE   childhood onset of developmental regression. Affected children develop
DE   impaired movements with dystonia, progressively become non-ambulatory
DE   and non-verbal, and exhibit striatal abnormalities on MRI.
SY   Lenk-Ploski syndrome.
DR   MIM; 617054; phenotype.
DR   MedGen; CN237817.
DR   MeSH; D020955.
KW   KW-0523:Neurodegeneration.
//
ID   Stromme syndrome.
AC   DI-04686
AR   STROMS.
DE   An autosomal recessive congenital disorder characterized by intestinal
DE   atresia, ocular anomalies, microcephaly, and renal and cardiac
DE   abnormalities in some patients. The disease has features of a
DE   ciliopathy, and lethality in early childhood is observed in severe
DE   cases.
SY   Apple peel syndrome with microcephaly and ocular anomalies.
SY   CILD31.
SY   Ciliary dyskinesia, primary, 31.
SY   Jejunal atresia with microcephaly and ocular anomalies.
DR   MIM; 243605; phenotype.
DR   MedGen; C1855705.
DR   MeSH; D002925.
DR   MeSH; D005124.
DR   MeSH; D007409.
DR   MeSH; D008831.
KW   KW-0990:Primary ciliary dyskinesia.
//
ID   Structural brain anomalies with impaired intellectual development and craniosynostosis.
AC   DI-05736
AR   BAIDCS.
DE   A disease characterized by microcephaly, agenesis of corpus callosum,
DE   abnormal conformation of the ventricles and posterior fossa,
DE   hypoplasia of both cerebellar hemispheres, colpocephaly, and partial
DE   absence of the cerebellar vermis with fusion of the cerebellar
DE   hemispheres. Intellectual development is moderately to severely
DE   impaired. Bicoronal synostosis, scoliosis, and tethered cord may be
DE   present.
DR   MIM; 618736; phenotype.
DR   MedGen; CN263148.
DR   MeSH; D003398.
DR   MeSH; D008607.
DR   MeSH; D009421.
KW   KW-0989:Craniosynostosis.
KW   KW-0991:Intellectual disability.
//
ID   Structural heart defects and renal anomalies syndrome.
AC   DI-05001
AR   SHDRA.
DE   An autosomal recessive syndrome characterized by central nervous
DE   system, cardiac, renal, and digit abnormalities. Clinical features
DE   include ventricular and atrial septal defects, truncus arteriosus,
DE   tetralogy of Fallot, partial anomalous pulmonary venous return, renal
DE   cysts, renal failure, and generalized edema. Some patients show
DE   partial agenesis of corpus callosum.
DR   MIM; 617478; phenotype.
DR   MedGen; CN243983.
DR   MeSH; D000015.
//
ID   Sturge-Weber syndrome.
AC   DI-03787
AR   SWS.
DE   A syndrome characterized by an intracranial vascular anomaly,
DE   leptomeningeal angiomatosis, most often involving the occipital and
DE   posterior parietal lobes. The most common features are facial
DE   cutaneous vascular malformations (port-wine stains), seizures, and
DE   glaucoma. Stasis results in ischemia underlying the leptomeningeal
DE   angiomatosis, leading to calcification and laminar cortical necrosis.
DE   The clinical course is highly variable and some children experience
DE   intractable seizures, intellectual disability, and recurrent stroke-
DE   like episodes.
DR   MIM; 185300; phenotype.
DR   MedGen; C0038505.
DR   MeSH; D013341.
//
ID   Stuttering, familial persistent 1.
AC   DI-04675
AR   STUT1.
DE   A familial form of stuttering, a disturbance in the normal fluency and
DE   time patterning of speech, characterized by frequent repetitions or
DE   prolongations of sounds or syllables, and by interruptions of speech
DE   known as blocks. STUT1 inheritance is autosomal dominant.
SY   Stammering.
DR   MIM; 184450; phenotype.
DR   MedGen; C0038131.
DR   MedGen; C3489627.
DR   MeSH; D013342.
//
ID   Stuve-Wiedemann syndrome 1.
AC   DI-02344
AR   STWS1.
DE   A form of Stuve-Wiedemann syndrome, an autosomal recessive disease
DE   characterized by bowing of tubular bones and other skeletal and
DE   craniofacial abnormalities, respiratory distress, feeding
DE   difficulties, and hyperthermic episodes. Most patients do not survive
DE   past infancy.
SY   Schwartz-Jampel syndrome, neonatal.
SY   Schwartz-Jampel syndrome type 2.
SY   SJS2.
SY   Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
SY   SWS.
DR   MIM; 601559; phenotype.
DR   MedGen; C0796176.
DR   MeSH; D010009.
DR   MeSH; D054969.
//
ID   Stuve-Wiedemann syndrome 2.
AC   DI-06347
AR   STWS2.
DE   A form of Stuve-Wiedemann syndrome, an autosomal recessive disease
DE   characterized by bowing of tubular bones and other skeletal and
DE   craniofacial abnormalities, respiratory distress, feeding
DE   difficulties, and hyperthermic episodes. Most patients do not survive
DE   past infancy. STWS2 patients manifest skeletal dysplasia and neonatal
DE   lung dysfunction with additional features such as congenital
DE   thrombocytopenia, eczematoid dermatitis, renal abnormalities, and
DE   defective acute-phase response.
DR   MIM; 619751; phenotype.
DR   MedGen; CN306477.
DR   MeSH; D010009.
DR   MeSH; D054969.
//
ID   Subcortical band heterotopia.
AC   DI-01094
AR   SBH.
DE   SBH is a mild brain malformation of the lissencephaly spectrum. It is
DE   characterized by bilateral and symmetric plates or bands of gray
DE   matter found in the central white matter between the cortex and
DE   cerebral ventricles, cerebral convolutions usually appearing normal.
SY   Double cortex.
SY   SCLH.
SY   Subcortical laminar heterotopia.
DR   MIM; 607432; phenotype.
DR   MedGen; C1848201.
DR   MeSH; D054221.
KW   KW-0451:Lissencephaly.
//
ID   Subcortical band heterotopia X-linked.
AC   DI-01095
AR   SBHX.
DE   SBHX is a mild brain malformation of the lissencephaly spectrum. It is
DE   characterized by bilateral and symmetric plates or bands of gray
DE   matter found in the central white matter between the cortex and
DE   cerebral ventricles, cerebral convolutions usually appearing normal.
SY   Double cortex.
SY   SCLH.
SY   Subcortical laminar heterotopia.
DR   MIM; 300067; phenotype.
DR   MedGen; C1848070.
DR   MedGen; C1848200.
DR   MeSH; D054221.
KW   KW-0451:Lissencephaly.
//
ID   Succinic semialdehyde dehydrogenase deficiency.
AC   DI-02345
AR   SSADHD.
DE   A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which
DE   leads to accumulation of 4-hydroxybutyric acid in physiologic fluids
DE   of patients. The disease is clinically characterized by developmental
DE   delay, hypotonia, intellectual disability, ataxia, seizures,
DE   hyperkinetic behavior, aggression, and sleep disturbances.
SY   4-hydroxybutyric aciduria.
SY   GABA metabolic defect.
SY   Gamma-hydroxybutyric aciduria.
SY   SSADH deficiency.
SY   Succinate semialdehyde dehydrogenase deficiency.
DR   MIM; 271980; phenotype.
DR   MedGen; C0268631.
DR   MeSH; D000592.
//
ID   Succinyl-CoA:3-oxoacid CoA transferase deficiency.
AC   DI-01863
AR   SCOTD.
DE   A disorder of ketone body metabolism, characterized by episodic
DE   ketoacidosis. Patients are usually asymptomatic between episodes.
SY   Ketoacidosis due to SCOT deficiency.
SY   SCOT deficiency.
SY   Succinyl-CoA:3-ketoacid CoA-transferase deficiency.
SY   Succinyl-CoA:3-ketoacid-CoA transferase deficiency.
SY   Succinyl-CoA:acetoacetate transferase deficiency.
SY   Succinyl-CoA-3-ketoacid-CoA transferase deficiency.
DR   MIM; 245050; phenotype.
DR   MedGen; C0342792.
DR   MeSH; D007662.
//
ID   Sudden cardiac death.
AC   DI-03218
AR   SCD.
DE   Unexpected rapid death due to cardiovascular collapse in a short time
DE   period, generally within one hour of initial symptoms. It is usually
DE   caused by the worsening of existing heart diseases. The sudden onset
DE   of symptoms, such as chest pain and cardiac arrhythmias, particularly
DE   ventricular tachycardia, can lead to the loss of consciousness and
DE   cardiac arrest followed by biological death.
DR   MIM; 115080; phenotype.
DR   MedGen; C0085298.
DR   MedGen; C0264886.
DR   MedGen; C1861884.
DR   MeSH; D016757.
//
ID   Sudden cardiac failure, alcohol-induced.
AC   DI-04870
AR   SCFAI.
DE   An autosomal recessive disease characterized by sudden death due to
DE   unexpected cardiac arrest following ingestion of small amounts of
DE   alcohol.
DR   MIM; 617223; phenotype.
DR   MedGen; CN239118.
DR   MeSH; D016757.
//
ID   Sudden cardiac failure, infantile.
AC   DI-04869
AR   SCFI.
DE   A disease characterized by sudden death within the first 2 years of
DE   life due to unexpected cardiac arrest. Some patients manifest
DE   hypertrophic cardiomyopathy, lipid accumulation in myocardium,
DE   degeneration of mitochondrial cristae, metabolic acidosis, and
DE   elevated plasma lactate levels. SCFI transmission pattern is
DE   consistent with autosomal recessive inheritance.
DR   MIM; 617222; phenotype.
DR   MedGen; CN239117.
DR   MeSH; D016757.
//
ID   Sudden infant death syndrome.
AC   DI-01096
AR   SIDS.
DE   SIDS is the sudden death of an infant younger than 1 year that remains
DE   unexplained after a thorough case investigation, including performance
DE   of a complete autopsy, examination of the death scene, and review of
DE   clinical history. Pathophysiologic mechanisms for SIDS may include
DE   respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory
DE   instability, and inborn errors of metabolism, but definitive
DE   pathogenic mechanisms precipitating an infant sudden death remain
DE   elusive.
DR   MIM; 272120; phenotype.
DR   MedGen; C0038644.
DR   MeSH; D013398.
//
ID   Sudden infant death with dysgenesis of the testes syndrome.
AC   DI-02346
AR   SIDDT.
DE   Autosomal recessive disorder. Affected infants appear normal at birth,
DE   develop signs of visceroautonomic dysfunction early in life, and die
DE   before 12 months of age of abrupt cardiorespiratory arrest. Features
DE   included bradycardia, hypothermia, severe gastroesophageal reflux,
DE   laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns
DE   during sleep. Genotypic males with SIDDT had fetal testicular
DE   dysgenesis and ambiguous genitalia, with findings such as
DE   intraabdominal testes, dysplastic testes, deficient fetal testosterone
DE   production, fusion and rugation of the gonadal sac, and partial
DE   development of the penile shaft. Female sexual development was normal.
DE   Affected infants had an unusual staccato cry, similar to the cry of a
DE   goat.
DR   MIM; 608800; phenotype.
DR   MedGen; C1837371.
//
ID   Suleiman-El-Hattab syndrome.
AC   DI-05876
AR   SULEHS.
DE   An autosomal recessive syndrome characterized by global developmental
DE   delay with poor expressive language, poor fine motor skills and
DE   hypotonia, microcephaly, feeding difficulties with failure to thrive,
DE   recurrent respiratory infections, cardiovascular malformations,
DE   cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive
DE   facial features are excessive forehead hair, arched and thick eyebrows
DE   with synophrys, epicanthus, hypertelorism, thick eyelids with
DE   periorbital fullness, broad nasal bridge, long and smooth philtrum,
DE   thin upper lip, and low set prominent ears.
DR   MIM; 618950; phenotype.
DR   MedGen; CN283296.
DR   MeSH; D065886.
//
ID   Sulfide:quinone oxidoreductase deficiency.
AC   DI-06038
AR   SQORD.
DE   An autosomal recessive disorder of hydrogen sulfide metabolism
DE   characterized by a variable phenotype. Some patients present with
DE   encephalopathy, clinical manifestations of Leigh syndrome, and may
DE   have a fatal disease course. Others are asymptomatic. Additional
DE   features may include lactic acidosis and decreased mitochondrial
DE   respiratory chain complex IV activity in tissues.
DR   MIM; 619221; phenotype.
DR   MedGen; CN295794.
DR   MeSH; D008661.
//
ID   Sulfite oxidase deficiency, isolated.
AC   DI-01843
AR   ISOD.
DE   A life-threatening, autosomal recessive neurometabolic disorder
DE   characterized by severe neurological impairment. Classic ISOD
DE   manifests in the first few hours to days of life and is characterized
DE   by intractable seizures, feeding difficulties, rapidly progressive
DE   encephalopathy, microcephaly, and profound intellectual disability.
DE   Children usually die during the first few months of life. Mild ISOD
DE   manifests in infancy or early childhood and is characterized by
DE   ectopia lentis that is variably present, developmental delay and
DE   regression, movement disorder characterized by dystonia and
DE   choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic
DE   stroke.
SY   Sulfocysteinuria.
DR   MIM; 272300; phenotype.
DR   MedGen; C0268624.
DR   MedGen; C2931746.
DR   MedGen; CN068763.
DR   MeSH; D020739.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Supravalvular aortic stenosis.
AC   DI-02347
AR   SVAS.
DE   Congenital narrowing of the ascending aorta which can occur
DE   sporadically, as an autosomal dominant condition, or as one component
DE   of Williams-Beuren syndrome.
DR   MIM; 185500; phenotype.
DR   MedGen; C0003499.
DR   MedGen; C2936909.
//
ID   Sveinsson chorioretinal atrophy.
AC   DI-02349
AR   SCRA.
DE   Characterized by symmetrical lesions radiating from the optic disk
DE   involving the retina and the choroid.
SY   AA.
SY   Atrophia areata.
SY   Helicoidal peripapillary chorioretinal degeneration.
SY   HPCD.
DR   MIM; 108985; phenotype.
DR   MedGen; C1862382.
//
ID   Sweeney-Cox syndrome.
AC   DI-05122
AR   SWCOS.
DE   An autosomal dominant syndrome characterized by facial dysostosis,
DE   including hypertelorism, deficiencies of the eyelids and facial bones,
DE   cleft palate/velopharyngeal insufficiency, and low-set cupped ears.
DR   MIM; 617746; phenotype.
DR   MedGen; CN570503.
DR   MeSH; D003394.
//
ID   Symphalangism, proximal 1A.
AC   DI-02350
AR   SYM1A.
DE   A disease characterized by the hereditary absence of the proximal
DE   interphalangeal joints. Distal interphalangeal joints are less
DE   frequently involved and metacarpophalangeal joints are rarely affected
DE   whereas carpal bone malformation and fusion are common. In the lower
DE   extremities, tarsal bone coalition is common. Conductive hearing loss
DE   is seen and is due to fusion of the stapes to the petrous part of the
DE   temporal bone.
SY   Cushing symphalangism.
SY   Hereditary absence of the proximal interphalangeal joints.
SY   SYM1.
DR   MIM; 185800; phenotype.
DR   MedGen; C1861385.
DR   MeSH; D007592.
//
ID   Symphalangism, proximal 1B.
AC   DI-03804
AR   SYM1B.
DE   A disease characterized by the hereditary absence of the proximal
DE   interphalangeal joints. Distal interphalangeal joints are less
DE   frequently involved and metacarpophalangeal joints are rarely affected
DE   whereas carpal bone malformation and fusion are common. In the lower
DE   extremities, tarsal bone coalition is common. Conductive hearing loss
DE   is seen and is due to fusion of the stapes to the petrous part of the
DE   temporal bone.
DR   MIM; 615298; phenotype.
DR   MedGen; C3809104.
DR   MedGen; CN177832.
DR   MeSH; D007592.
//
ID   Symptomatic deficiency in lactate transport.
AC   DI-02351
AR   SDLT.
DE   Deficiency of lactate transporter may result in an acidic
DE   intracellular environment created by muscle activity with consequent
DE   degeneration of muscle and release of myoglobin and creatine kinase.
DE   This defect might compromise extreme performance in otherwise healthy
DE   individuals.
SY   Erythrocyte lactate transporter defect.
DR   MIM; 245340; phenotype.
DR   MedGen; C1855577.
//
ID   Syndactyly 3.
AC   DI-02352
AR   SDTY3.
DE   A form of syndactyly, a congenital anomaly of the hand or foot marked
DE   by persistence of the webbing between adjacent digits that are more or
DE   less completely attached. In SDTY3, there is usually complete and
DE   bilateral syndactyly between the fourth and fifth fingers. Usually it
DE   is soft tissue syndactyly but occasionally the distal phalanges are
DE   fused. The fifth finger is short with absent or rudimentary middle
DE   phalanx. The feet are not affected.
SY   Ring and little finger syndactyly.
SY   Syndactyly of fingers IV and V.
SY   Syndactyly type III.
DR   MIM; 186100; phenotype.
DR   MedGen; C1861366.
DR   MeSH; D013576.
//
ID   Syndactyly 4.
AC   DI-02353
AR   SDTY4.
DE   A form of syndactyly, a congenital anomaly of the hand or foot marked
DE   by persistence of the webbing between adjacent digits that are more or
DE   less completely attached. SDTY4 is characterized by complete bilateral
DE   syndactyly (involving all digits 1 to 5). A frequent association with
DE   polydactyly (with six metacarpals and six digits) has been reported.
DE   Feet are affected occasionally.
SY   Haas type syndactyly.
SY   Polysyndactyly Haas type.
SY   SD4.
SY   Syndactyly type IV.
DR   MIM; 186200; phenotype.
DR   MedGen; C1861355.
DR   MeSH; D013576.
//
ID   Syndactyly 5.
AC   DI-02354
AR   SDTY5.
DE   A form of syndactyly, a congenital anomaly of the hand or foot marked
DE   by persistence of the webbing between adjacent digits that are more or
DE   less completely attached. The characteristic finding in SDTY5 is the
DE   presence of an associated metacarpal and metatarsal fusion. The
DE   metacarpals and metatarsals most commonly fused are the 4th and 5th or
DE   the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and
DE   4th fingers and the 2nd and 3rd toes.
SY   Syndactyly type V.
SY   Syndactyly with metacarpal and metatarsal fusion.
DR   MIM; 186300; phenotype.
DR   MedGen; C1861348.
DR   MeSH; D013576.
//
ID   Syndactyly, mesoaxial synostotic, with phalangeal reduction.
AC   DI-04323
AR   MSSD.
DE   An autosomal recessive, non-syndromic digit anomaly characterized by
DE   mesoaxial osseous synostosis at a metacarpal level, reduction of one
DE   or more phalanges, hypoplasia of distal phalanges of preaxial and
DE   postaxial digits, clinodactyly of fifth fingers, and preaxial fusion
DE   of toes.
SY   Mesoaxial synostotic syndactyly, Malik-Percin type.
SY   Syndactyly, Malik-Percin type.
SY   Syndactyly, type IX.
DR   MIM; 609432; phenotype.
DR   MedGen; C1836206.
DR   MeSH; D013576.
//
ID   Synpolydactyly 1.
AC   DI-02355
AR   SPD1.
DE   Limb malformation that shows a characteristic manifestation in both
DE   hands and feet. This condition is inherited as an autosomal dominant
DE   trait with reduced penetrance.
SY   SDYT2.
SY   Syndactyly type 2.
DR   MIM; 186000; phenotype.
DR   MedGen; C1861367.
DR   MedGen; C1861368.
//
ID   Systemic lupus erythematosus.
AC   DI-02648
AR   SLE.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 152700; phenotype.
DR   MedGen; C0024141.
DR   MedGen; C1835308.
DR   MedGen; C1835309.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 1.
AC   DI-02649
AR   SLEB1.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 601744; phenotype.
DR   MedGen; C1864265.
DR   MedGen; C1866373.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 10.
AC   DI-02652
AR   SLEB10.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 612251; phenotype.
DR   MedGen; C2677097.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 11.
AC   DI-02653
AR   SLEB11.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 612253; phenotype.
DR   MedGen; C2677096.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 16.
AC   DI-03334
AR   SLEB16.
DE   A rare autosomal recessive form of systemic lupus erythematosus with
DE   childhood onset, characterized by high frequency of anti-neutrophil
DE   cytoplasmic antibodies and lupus nephritis. Systemic lupus
DE   erythematosus is a chronic, relapsing, inflammatory, and often febrile
DE   multisystemic disorder of connective tissue, characterized principally
DE   by involvement of the skin, joints, kidneys and serosal membranes. The
DE   disease is marked by a wide range of system dysfunctions, an elevated
DE   erythrocyte sedimentation rate, and the formation of LE cells in the
DE   blood or bone marrow.
DR   MIM; 614420; phenotype.
DR   MedGen; C3280742.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 17.
AC   DI-06410
AR   SLEB17.
DE   A form of systemic lupus erythematosus, a chronic, relapsing,
DE   inflammatory, and often febrile multisystemic disorder of connective
DE   tissue, characterized principally by involvement of the skin, joints,
DE   kidneys and serosal membranes. The disease is marked by a wide range
DE   of system dysfunctions, an elevated erythrocyte sedimentation rate,
DE   and the formation of LE cells in the blood or bone marrow. SLEB17 is
DE   an X-linked dominant form characterized by onset of systemic
DE   autoinflammatory symptoms in the first decades of life.
DR   MIM; 301080; phenotype.
DR   MedGen; CN312033.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 2.
AC   DI-02650
AR   SLEB2.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 605218; phenotype.
DR   MedGen; C1854577.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 6.
AC   DI-02654
AR   SLEB6.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 609939; phenotype.
DR   MedGen; C1835919.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic lupus erythematosus 9.
AC   DI-02651
AR   SLEB9.
DE   A chronic, relapsing, inflammatory, and often febrile multisystemic
DE   disorder of connective tissue, characterized principally by
DE   involvement of the skin, joints, kidneys and serosal membranes. It is
DE   of unknown etiology, but is thought to represent a failure of the
DE   regulatory mechanisms of the autoimmune system. The disease is marked
DE   by a wide range of system dysfunctions, an elevated erythrocyte
DE   sedimentation rate, and the formation of LE cells in the blood or bone
DE   marrow.
DR   MIM; 610927; phenotype.
DR   MedGen; C1970455.
DR   MeSH; D008180.
KW   KW-0772:Systemic lupus erythematosus.
//
ID   Systemic primary carnitine deficiency.
AC   DI-02356
AR   CDSP.
DE   Autosomal recessive disorder of fatty acid oxidation caused by
DE   defective carnitine transport. Present early in life with hypoketotic
DE   hypoglycemia and acute metabolic decompensation, or later in life with
DE   skeletal myopathy or cardiomyopathy.
DR   MIM; 212140; phenotype.
DR   MedGen; C0342788.
//
ID   T-cell immunodeficiency with thymic aplasia.
AC   DI-05795
AR   TIDTA.
DE   An autosomal recessive disorder characterized by selective hypo- or
DE   aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell
DE   development, and increased susceptibility to viral infections.
SY   Immune defect due to absence of thymus.
SY   Nezelof syndrome.
SY   T-lymphocyte deficiency.
DR   MIM; 242700; phenotype.
DR   MedGen; C2752083.
DR   MeSH; D007153.
//
ID   T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
AC   DI-02357
AR   TIDAND.
DE   A disorder characterized by the association of congenital alopecia,
DE   severe T-cell immunodeficiency, and ridging and pitting of all nails.
SY   Pignata Guarino syndrome.
SY   Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy.
SY   Winged helix deficiency.
DR   MIM; 601705; phenotype.
DR   MedGen; C1866426.
DR   MeSH; D000505.
DR   MeSH; D007153.
DR   MeSH; D009260.
KW   KW-1063:Hypotrichosis.
//
ID   T-cell lymphoma, subcutaneous panniculitis-like.
AC   DI-05542
AR   SPTCL.
DE   An uncommon form of T-cell non-Hodgkin lymphoma, in which cytotoxic
DE   CD8+ T-cells infiltrate subcutaneous adipose tissue, and rimming
DE   adipocytes in a lace-like pattern. Affected individuals typically
DE   present with multiple subcutaneous nodules, systemic B-cell symptoms,
DE   and, in a subset of cases, autoimmune disorders, most commonly
DE   systemic lupus erythematosus. A subset of patients develop
DE   hemophagocytic lymphohistiocytosis. SPTCL transmission pattern is
DE   consistent with autosomal recessive inheritance with incomplete
DE   penetrance.
DR   MIM; 618398; phenotype.
DR   MedGen; C0522624.
DR   MeSH; D015434.
DR   MeSH; D016399.
//
ID   T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant.
AC   DI-05787
AR   TLIND.
DE   An autosomal dominant disorder characterized by decreased numbers of T
DE   cells, particularly cytotoxic CD8+ T cells, and increased
DE   susceptibility to recurrent infections, mainly respiratory viral
DE   infections. Additional features may include impaired thymic
DE   development, skin abnormalities, such as atopic dermatitis, and nail
DE   dystrophy.
DR   MIM; 618806; phenotype.
DR   MedGen; CN263366.
DR   MeSH; D008231.
//
ID   Takenouchi-Kosaki syndrome.
AC   DI-04631
AR   TKS.
DE   An autosomal dominant syndrome characterized by macrothrombocytopenia,
DE   lymphedema, intellectual disability, developmental delay, and
DE   distinctive facial features.
DR   MIM; 616737; phenotype.
DR   MedGen; CN234779.
DR   MeSH; D008607.
DR   MeSH; D013921.
KW   KW-0991:Intellectual disability.
//
ID   Tangier disease.
AC   DI-01742
AR   TGD.
DE   An autosomal recessive disorder characterized by near absence of
DE   plasma high density lipoproteins, low serum HDL cholesterol, and
DE   massive tissue deposition of cholesterol esters. Clinical features
DE   include large yellow-orange tonsils, hepatomegaly, splenomegaly,
DE   enlarged lymph nodes, and often sensory polyneuropathy.
SY   Analphalipoproteinemia.
SY   HDLD1.
SY   High density lipoprotein deficiency, Tangier Type.
SY   High density lipoprotein deficiency 1.
DR   MIM; 205400; phenotype.
DR   MedGen; C0039292.
DR   MeSH; D013631.
//
ID   Tardive tibial muscular dystrophy.
AC   DI-02358
AR   TMD.
DE   Autosomal dominant, late-onset distal myopathy. Muscle weakness and
DE   atrophy are usually confined to the anterior compartment of the lower
DE   leg, in particular the tibialis anterior muscle. Clinical symptoms
DE   usually occur at age 35-45 years or much later.
SY   Udd myopathy.
DR   MIM; 600334; phenotype.
DR   MedGen; C1838244.
//
ID   TARP syndrome.
AC   DI-02837
AR   TARPS.
DE   A disorder characterized by the Robin sequence (micrognathia,
DE   glossoptosis and cleft palate), talipes equinovarus and cardiac
DE   defects.
SY   Pierre Robin syndrome with congenital heart malformation and clubfoot.
SY   Talipes equinovarus atrial septal defect robin sequence and persistence of left superior vena cava.
DR   MIM; 311900; phenotype.
DR   MedGen; C1839463.
DR   MeSH; D003025.
//
ID   Tarsal-carpal coalition syndrome.
AC   DI-02359
AR   TCC.
DE   Autosomal dominant disorder characterized by fusion of the carpals,
DE   tarsals and phalanges, short first metacarpals causing brachydactyly,
DE   and humeroradial fusion. TCC is allelic to SYM1, and different
DE   mutations in NOG can result in either TCC or SYM1 in different
DE   families.
DR   MIM; 186570; phenotype.
DR   MedGen; C1861305.
DR   MedGen; C1861306.
//
ID   Tatton-Brown-Rahman syndrome.
AC   DI-04151
AR   TBRS.
DE   An overgrowth syndrome characterized by a distinctive facial
DE   appearance, tall stature and intellectual disability. Facial gestalt
DE   is characterized by a round face, heavy horizontal eyebrows and narrow
DE   palpebral fissures. Less common features include atrial septal
DE   defects, seizures, umbilical hernia, and scoliosis.
SY   DNMT3A overgrowth syndrome.
DR   MIM; 615879; phenotype.
DR   MedGen; CN189716.
DR   MeSH; D006130.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Taurodontism, microdontia, and dens invaginatus.
AC   DI-06767
AR   TMDI.
DE   An X-linked recessive disorder characterized by the triad of
DE   taurodontism, microdontia, and dens invaginatus. Taurodontism is a
DE   rare developmental dental condition that largely affects the molar
DE   teeth and may be associated with hypodontia. In taurodontism, the
DE   crown of the molar tooth and pulp chamber are disproportionately
DE   longer than the roots. Microdontia, a mild form of hypodontia, is
DE   defined as smaller than normal teeth with shortened crowns (vertically
DE   or mesio-distally) and loss of contact areas between the teeth. Dens
DE   invaginatus or dens invagination is a tooth developmental anomaly that
DE   results from either the dental papilla folding into the developing
DE   tooth or the entire enamel organ folding into the dental papilla. In
DE   both instances, this leads to the formation of a tooth within a tooth.
DR   MIM; 313490; phenotype.
DR   MedGen; C1839235.
DR   MeSH; D014071.
//
ID   Teebi hypertelorism syndrome 1.
AC   DI-05364
AR   TBHS1.
DE   A form of Teebi hypertelorism syndrome, a syndrome characterized by an
DE   abnormally increased distance between ocular orbits, and facial
DE   features that can resemble craniofrontonasal dysplasia such as
DE   prominent forehead, widow's peak, heavy and broad eyebrows, long
DE   palpebral fissures, ptosis, high and broad nasal bridge, short nose,
DE   low-set ears, natal teeth, thin upper lip and a grooved chin. Some
DE   affected individuals have limb, urogenital, umbilical and cardiac
DE   defects. Developmental delay and/or impaired intellectual development
DE   have been observed in some patients. TBHS1 inheritance is autosomal
DE   dominant.
SY   BBB syndrome.
SY   Brachycephalofrontonasal dysplasia.
SY   Chromosome 22q11.2 deletion syndrome, Opitz phenotype.
SY   GBBB syndrome.
SY   G syndrome.
SY   Hypertelorism, Teebi type.
SY   Hypertelorism-hypospadias syndrome.
SY   Hypertelorism with esophageal abnormality and hypospadias.
SY   Hypospadias-dysphagia syndrome.
SY   OGS2.
SY   Opitz BBBG syndrome.
SY   Opitz-Frias syndrome.
SY   Opitz GBBB syndrome, autosomal dominant.
SY   Opitz-G syndrome, type II.
SY   Opitz oculogenitolaryngeal syndrome, type II.
SY   TBHS.
SY   Teebi hypertelorism syndrome.
DR   MIM; 145420; phenotype.
DR   MedGen; C0796179.
DR   MeSH; D006972.
//
ID   Teebi hypertelorism syndrome 2.
AC   DI-06331
AR   TBHS2.
DE   A form of Teebi hypertelorism syndrome, a syndrome characterized by an
DE   abnormally increased distance between ocular orbits, and facial
DE   features that can resemble craniofrontonasal dysplasia such as
DE   prominent forehead, widow's peak, heavy and broad eyebrows, long
DE   palpebral fissures, ptosis, high and broad nasal bridge, short nose,
DE   low-set ears, natal teeth, thin upper lip and a grooved chin. Some
DE   affected individuals have limb, urogenital, umbilical and cardiac
DE   defects. Developmental delay and/or impaired intellectual development
DE   have been observed in some patients. TBHS2 inheritance is autosomal
DE   dominant.
DR   MIM; 619736; phenotype.
DR   MedGen; CN306231.
DR   MeSH; D006972.
//
ID   Telangiectasia, hereditary hemorrhagic, 1.
AC   DI-01716
AR   HHT1.
DE   A multisystemic vascular dysplasia leading to dilation of permanent
DE   blood vessels and arteriovenous malformations of skin, mucosa, and
DE   viscera. The disease is characterized by recurrent epistaxis and
DE   gastro-intestinal hemorrhage. Visceral involvement includes
DE   arteriovenous malformations of the lung, liver, and brain.
SY   Hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber.
SY   ORW1.
SY   ORW disease.
SY   Osler-Rendu-Weber syndrome.
SY   Osler-Rendu-Weber syndrome 1.
DR   MIM; 187300; phenotype.
DR   MedGen; C0039445.
DR   MedGen; CN034812.
DR   MeSH; D013683.
//
ID   Telangiectasia, hereditary hemorrhagic, 2.
AC   DI-01717
AR   HHT2.
DE   A multisystemic vascular dysplasia leading to dilation of permanent
DE   blood vessels and arteriovenous malformations of skin, mucosa, and
DE   viscera. The disease is characterized by recurrent epistaxis and
DE   gastro-intestinal hemorrhage. Visceral involvement includes
DE   arteriovenous malformations of the lung, liver, and brain.
DR   MIM; 600376; phenotype.
DR   MedGen; C1832529.
DR   MedGen; C1838163.
DR   MeSH; D013683.
//
ID   Telangiectasia, hereditary hemorrhagic, 5.
AC   DI-03967
AR   HHT5.
DE   A multisystemic vascular dysplasia leading to dilation of permanent
DE   blood vessels and arteriovenous malformations of skin, mucosa, and
DE   viscera. The disease is characterized by recurrent epistaxis and
DE   gastro-intestinal hemorrhage. Visceral involvement includes
DE   arteriovenous malformations of the lung, liver, and brain.
DR   MIM; 615506; phenotype.
DR   MedGen; C3809710.
DR   MedGen; CN181197.
DR   MeSH; D013683.
//
ID   Temple-Baraitser syndrome.
AC   DI-04297
AR   TMBTS.
DE   A developmental disorder characterized by intellectual disability,
DE   epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and
DE   broadening and/or elongation of the thumbs and halluces, which have a
DE   tubular aspect. Some patients show facial dysmorphism.
SY   TBS.
DR   MIM; 611816; phenotype.
DR   MedGen; C2678486.
DR   MeSH; D008607.
DR   MeSH; D009264.
DR   MeSH; D017880.
KW   KW-0887:Epilepsy.
KW   KW-0991:Intellectual disability.
//
ID   Temtamy preaxial brachydactyly syndrome.
AC   DI-03156
AR   TPBS.
DE   A syndrome characterized by multiple congenital anomalies,
DE   intellectual disability, sensorineural deafness, talon cusps of upper
DE   central incisors, growth retardation, and bilateral symmetric digital
DE   anomalies mainly in the form of preaxial brachydactyly and
DE   hyperphalangism.
SY   Preaxial brachydactyly syndrome Temtamy type.
DR   MIM; 605282; phenotype.
DR   MedGen; C1854466.
DR   MeSH; D000015.
//
ID   Temtamy syndrome.
AC   DI-03719
AR   TEMTYS.
DE   An autosomal recessive syndrome characterized by intellectual
DE   disability, variable craniofacial dysmorphism, ocular coloboma,
DE   seizures, and brain abnormalities, including abnormalities of the
DE   corpus callosum and thalamus.
DR   MIM; 218340; phenotype.
DR   MedGen; C1857512.
DR   MeSH; D003103.
DR   MeSH; D019465.
DR   MeSH; D061085.
KW   KW-0991:Intellectual disability.
//
ID   Tenorio syndrome.
AC   DI-04352
AR   TNORS.
DE   A disease characterized by overgrowth, macrocephaly, and intellectual
DE   disability. Some patients may have mild hydrocephaly, hypoglycemia,
DE   and inflammatory diseases resembling Sjogren syndrome.
SY   Overgrowth, macrocephaly, and intellectual disability syndrome.
DR   MIM; 616260; phenotype.
DR   MedGen; CN228398.
DR   MeSH; D001848.
DR   MeSH; D008607.
DR   MeSH; D058627.
KW   KW-0991:Intellectual disability.
//
ID   Terminal osseous dysplasia.
AC   DI-02914
AR   TOD.
DE   A rare X-linked dominant male-lethal disease characterized by skeletal
DE   dysplasia of the limbs, pigmentary defects of the skin and recurrent
DE   digital fibroma during infancy. A significant phenotypic variability
DE   is observed in affected females.
SY   Digital osseous dysplasia with facial pigmentary defects and multiple frenula.
SY   ODPD.
SY   ODPF.
SY   ODPF syndrome.
SY   Osseous dysplasia and pigmentary defects.
SY   Terminal osseous dysplasia and pigmentary defects.
SY   TODPD.
DR   MIM; 300244; phenotype.
DR   MedGen; C1846129.
DR   MeSH; D001848.
//
ID   Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1.
AC   DI-06350
AR   TEBIVANED1.
DE   An autosomal dominant disorder with onset in infancy, characterized by
DE   poor overall growth, microcephaly, hypotonia, profound global
DE   developmental delay, impaired intellectual development, poor or absent
DE   speech, and characteristic dysmorphic facial features, including
DE   hypertelorism and abnormal nose. Other variable neurologic and
DE   systemic features may also occur.
DR   MIM; 619758; phenotype.
DR   MedGen; CN306733.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2.
AC   DI-06351
AR   TEBIVANED2.
DE   An autosomal dominant disorder characterized by poor overall growth,
DE   microcephaly, hypotonia, profound global developmental delay, impaired
DE   intellectual development, absent speech, and characteristic dysmorphic
DE   facial features, including hypertelorism, abnormal nose, and wide
DE   mouth.
DR   MIM; 619759; phenotype.
DR   MedGen; CN306735.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3.
AC   DI-06448
AR   TEBIVANED3.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay with poor overall growth, impaired intellectual development, and
DE   speech difficulties. More variable features include hypotonia,
DE   microcephaly, and dysmorphic facies.
DR   MIM; 619950; phenotype.
DR   MedGen; CN315799.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4.
AC   DI-06449
AR   TEBIVANED4.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay with poor overall growth, variably impaired intellectual
DE   development, learning difficulties, distal skeletal anomalies, and
DE   dysmorphic facies. Some patients have visual or hearing deficits.
DR   MIM; 619951; phenotype.
DR   MedGen; CN315800.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Testicular anomalies with or without congenital heart disease.
AC   DI-03956
AR   TACHD.
DE   A 46,XY disorder of sex development with variable clinical
DE   presentation and defects in testicular differentiation and function.
DE   Clinical features include ambiguous genitalia, fused labioscrotal
DE   folds, hypospadias, microphallus, and bilateral inguinal hernia
DE   containing gonads.
DR   MIM; 615542; phenotype.
DR   MedGen; C3809858.
DR   MedGen; CN181765.
DR   MeSH; D058490.
//
ID   Testicular germ cell tumor.
AC   DI-02749
AR   TGCT.
DE   A common malignancy in males representing 95% of all testicular
DE   neoplasms. TGCTs have various pathologic subtypes including:
DE   unclassified intratubular germ cell neoplasia, seminoma (including
DE   cases with syncytiotrophoblastic cells), spermatocytic seminoma,
DE   embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
SY   Embryonal cell carcinoma.
SY   Endodermal sinus tumor.
SY   Male germ cell tumor.
SY   MGCT.
SY   Nonseminomatous germ cell tumors.
SY   Seminoma.
SY   Spermatocytic seminoma.
SY   Teratoma testicular.
DR   MIM; 273300; phenotype.
DR   MedGen; C0014145.
DR   MedGen; C0036631.
DR   MedGen; C0238451.
DR   MedGen; C0334517.
DR   MedGen; C1266158.
DR   MedGen; C1336708.
DR   MedGen; C1848887.
DR   MedGen; C3463918.
DR   MeSH; D013736.
DR   MeSH; D018239.
//
ID   Tetraamelia syndrome 1.
AC   DI-01262
AR   TETAMS1.
DE   A form of tetraamelia, a rare disease characterized by rudimentary
DE   appendages or complete absence of all four limbs, and other anomalies
DE   such as craniofacial, nervous system, pulmonary, skeletal and
DE   urogenital defects. TETAMS1 patients manifest complete limb agenesis
DE   without defects of scapulae or clavicles. Other features include
DE   bilateral cleft lip/palate, diaphragmatic defect with bilobar right
DE   lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital
DE   defects. TETAMS1 transmission pattern is consistent with autosomal
DE   recessive inheritance.
SY   Autosomal recessive tetra-amelia.
SY   Tetraamelia syndrome, autosomal recessive.
DR   MIM; 273395; phenotype.
DR   MedGen; C4012268.
DR   MeSH; D004480.
//
ID   Tetraamelia syndrome 2.
AC   DI-05280
AR   TETAMS2.
DE   A form of tetraamelia, a rare disease characterized by rudimentary
DE   appendages or complete absence of all four limbs, and other anomalies
DE   such as craniofacial, nervous system, pulmonary, skeletal and
DE   urogenital defects. TETAMS2 patients manifest limb deformities,
DE   bilateral agenesis of the lungs, abnormalities of the pulmonary
DE   vasculature, labioscrotal fold aplasia, and dysmorphic features
DE   including bilateral cleft lip/palate, ankyloglossia, mandibular
DE   hypoplasia, and microretrognathia. TETAMS2 transmission pattern is
DE   consistent with autosomal recessive inheritance.
DR   MIM; 618021; phenotype.
DR   MedGen; CN248528.
DR   MeSH; D004480.
//
ID   Tetralogy of Fallot.
AC   DI-02362
AR   TOF.
DE   A congenital heart anomaly which consists of pulmonary stenosis,
DE   ventricular septal defect, dextroposition of the aorta (aorta is on
DE   the right side instead of the left) and hypertrophy of the right
DE   ventricle. In this condition, blood from both ventricles (oxygen-rich
DE   and oxygen-poor) is pumped into the body often causing cyanosis.
DR   MIM; 187500; phenotype.
DR   MedGen; C0039685.
DR   MeSH; D013771.
//
ID   Thanatophoric dysplasia 1.
AC   DI-02363
AR   TD1.
DE   A neonatal lethal skeletal dysplasia. Affected individuals manifest
DE   severe shortening of the limbs with macrocephaly, narrow thorax, short
DE   ribs, and curved femurs.
SY   Lethal short-limbed platyspondylic dwarfism San Diego type.
SY   Platyspondylic lethal skeletal dysplasia San Diego type.
SY   Thanatophoric dwarfism.
SY   Thanatophoric dysplasia type I.
DR   MIM; 187600; phenotype.
DR   MedGen; C1868678.
DR   MedGen; C2674173.
DR   MeSH; D013796.
KW   KW-0242:Dwarfism.
//
ID   Thanatophoric dysplasia 2.
AC   DI-03093
AR   TD2.
DE   A neonatal lethal skeletal dysplasia causing severe shortening of the
DE   limbs, narrow thorax and short ribs. Patients with thanatophoric
DE   dysplasia type 2 have straight femurs and cloverleaf skull.
SY   Cloverleaf skull with thanatophoric dwarfism.
SY   Thanatophoric dysplasia type II.
SY   Thanatophoric dysplasia with kleeblattschaedel.
SY   Thanatophoric dysplasia with straight femurs and cloverleaf skull.
DR   MIM; 187601; phenotype.
DR   MedGen; C1300257.
DR   MeSH; D013796.
KW   KW-0242:Dwarfism.
//
ID   Thauvin-Robinet-Faivre syndrome.
AC   DI-04839
AR   TROFAS.
DE   A rare autosomal recessive syndrome characterized by generalized
DE   overgrowth, developmental delay, learning disabilities, and variable
DE   congenital abnormalities including congenital heart defects, renal
DE   dysplasia, and skeletal defects.
DR   MIM; 617107; phenotype.
DR   MedGen; CN238496.
DR   MeSH; D000015.
DR   MeSH; D001848.
//
ID   Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type.
AC   DI-01284
AR   THMD2.
DE   An autosomal recessive metabolic disorder characterized by episodic
DE   encephalopathy, often triggered by febrile illness, presenting as
DE   confusion, seizures, external ophthalmoplegia, dysphagia, and
DE   sometimes coma and death. If untreated, encephalopathies can result in
DE   permanent dystonia. Brain imaging may show characteristic bilateral
DE   lesions of the basal ganglia.
SY   BBGD.
SY   Biotin-responsive basal ganglia disease.
SY   BTBGD.
SY   Thiamine-responsive encephalopathy.
DR   MIM; 607483; phenotype.
DR   MedGen; C1843807.
DR   MeSH; D001480.
//
ID   Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type.
AC   DI-03011
AR   THMD4.
DE   A disease characterized by recurrent episodes of flaccid paralysis and
DE   encephalopathy associated with bilateral striatal necrosis and chronic
DE   progressive polyneuropathy.
SY   Bilateral striatal degeneration and progressive polyneuropathy.
SY   Striatal necrosis, bilateral and progressive polyneuropathy.
DR   MIM; 613710; phenotype.
DR   MedGen; C3150973.
DR   MeSH; D001480.
KW   KW-0622:Neuropathy.
//
ID   Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type.
AC   DI-03377
AR   THMD5.
DE   An autosomal recessive metabolic disorder due to an inborn error of
DE   thiamine metabolism. The phenotype is highly variable, but in general,
DE   affected individuals have onset in early childhood of acute
DE   encephalopathic episodes associated with increased serum and CSF
DE   lactate. These episodes result in progressive neurologic dysfunction
DE   manifest as gait disturbances, ataxia, dystonia, and spasticity, which
DE   in some cases may result in loss of ability to walk. Cognitive
DE   function is usually preserved, although mildly delayed development has
DE   been reported. These episodes are usually associated with infection
DE   and metabolic decompensation. Some patients may have recovery of some
DE   neurologic deficits.
SY   Episodic encephalopathy due to thiamine pyrophosphokinase deficiency.
DR   MIM; 614458; phenotype.
DR   MedGen; C3280866.
DR   MeSH; D020739.
//
ID   Thiamine-responsive megaloblastic anemia syndrome.
AC   DI-02365
AR   TRMA.
DE   An autosomal recessive disease characterized by megaloblastic anemia,
DE   diabetes mellitus, and sensorineural deafness. Onset is typically
DE   between infancy and adolescence, but all of the cardinal findings are
DE   often not present initially. The anemia, and sometimes the diabetes,
DE   improves with high doses of thiamine. Other more variable features
DE   include optic atrophy, congenital heart defects, short stature, and
DE   stroke.
SY   Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness.
SY   Rogers syndrome.
SY   Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type).
SY   Thiamine-responsive anemia syndrome.
SY   Thiamine-responsive myelodysplasia.
SY   THMD1.
DR   MIM; 249270; phenotype.
DR   MedGen; C0342287.
DR   MeSH; D000749.
DR   MeSH; D003920.
DR   MeSH; D006319.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
//
ID   Thrombocythemia 1.
AC   DI-01538
AR   THCYT1.
DE   A myeloproliferative disorder characterized by excessive platelet
DE   production, resulting in increased numbers of circulating platelets.
DE   It can be associated with spontaneous hemorrhages and thrombotic
DE   episodes.
SY   Essential thrombocythemia.
SY   Thrombocytosis 1.
DR   MIM; 187950; phenotype.
DR   MedGen; C0040028.
DR   MedGen; C3277671.
DR   MeSH; D013920.
//
ID   Thrombocythemia 2.
AC   DI-03401
AR   THCYT2.
DE   A myeloproliferative disorder characterized by excessive platelet
DE   production, resulting in increased numbers of circulating platelets.
DE   It can be associated with spontaneous hemorrhages and thrombotic
DE   episodes.
SY   Thrombocytosis 2.
DR   MIM; 601977; phenotype.
DR   MedGen; C3275998.
DR   MeSH; D013920.
//
ID   Thrombocythemia 3.
AC   DI-03402
AR   THCYT3.
DE   A myeloproliferative disorder characterized by excessive platelet
DE   production, resulting in increased numbers of circulating platelets.
DE   It can be associated with spontaneous hemorrhages and thrombotic
DE   episodes.
SY   Thrombocytosis 3.
DR   MIM; 614521; phenotype.
DR   MedGen; C3281125.
DR   MeSH; D013920.
//
ID   Thrombocytopenia 1.
AC   DI-01098
AR   THC1.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting.
SY   Thrombocytopenia X-linked.
SY   Thrombocytopenia X-linked 1.
SY   XLT.
DR   MIM; 313900; phenotype.
DR   MedGen; C1839163.
DR   MedGen; C1839164.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 10.
AC   DI-06750
AR   THC10.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC10 is an autosomal recessive form characterized by
DE   decreased numbers of platelets apparent from birth or early childhood.
SY   Thrombocytopenia, autosomal recessive, 10.
DR   MIM; 620484; phenotype.
DR   MedGen; CN372722.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 2.
AC   DI-01099
AR   THC2.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting.
SY   Thrombocytopenia, autosomal dominant, 2.
SY   Thrombocytopenia autosomal dominant 2.
DR   MIM; 188000; phenotype.
DR   MedGen; C1861185.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 3.
AC   DI-04981
AR   THC3.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC3 is an autosomal recessive form characterized by onset
DE   in infancy.
DR   MIM; 273900; phenotype.
DR   MedGen; C2678311.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 4.
AC   DI-01100
AR   THC4.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting.
SY   Thrombocytopenia autosomal dominant 4.
DR   MIM; 612004; phenotype.
DR   MedGen; C2677608.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 5.
AC   DI-04335
AR   THC5.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC5 is an autosomal dominant disorder, associated with an
DE   increased susceptibility to the development of hematologic and solid
DE   malignancies.
SY   Thrombocytopenia, autosomal dominant, 5.
SY   Thrombocytopenia 5 with increased susceptibility to malignancy.
DR   MIM; 616216; phenotype.
DR   MedGen; CN225711.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 6.
AC   DI-04719
AR   THC6.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC6 is an autosomal dominant form. Affected individuals may
DE   also have bone abnormalities and an increased risk for myelofibrosis.
SY   Thrombocytopenia, autosomal dominant, 6.
DR   MIM; 616937; phenotype.
DR   MedGen; CN236410.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 7.
AC   DI-05994
AR   THC7.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC7 is an autosomal dominant form with highly variable
DE   severity, ranging from absence of bleeding symptoms to epistaxis or
DE   more severe bleeding episodes.
SY   Thrombocytopenia, autosomal dominant, 7.
DR   MIM; 619130; phenotype.
DR   MedGen; CN293599.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 8, with dysmorphic features and developmental delay.
AC   DI-06744
AR   THC8.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC8 is an autosomal dominant form characterized by early-
DE   childhood onset of thrombocytopenia with platelet anisotropy. Affected
DE   individuals also have dysmorphic facial features and variable
DE   developmental delay with speech delay and mildly impaired intellectual
DE   development.
DR   MIM; 620475; phenotype.
DR   MedGen; CN372714.
DR   MeSH; D013921.
//
ID   Thrombocytopenia 9.
AC   DI-06745
AR   THC9.
DE   A form of thrombocytopenia, a hematologic disorder defined by a
DE   decrease in the number of platelets in circulating blood, resulting in
DE   the potential for increased bleeding and decreased ability for
DE   clotting. THC9 is an autosomal dominant form characterized by low
DE   platelet counts in the absence of significant bleeding tendency. Some
DE   individuals may have mild mucocutaneous bleeding, whereas others may
DE   be asymptomatic.
SY   Thrombocytopenia, autosomal dominant, 9.
DR   MIM; 620478; phenotype.
DR   MedGen; CN372715.
DR   MeSH; D013921.
//
ID   Thrombocytopenia with beta-thalassemia, X-linked.
AC   DI-02461
AR   XLTT.
DE   An unusual form of thrombocytopenia associated with beta-thalassemia.
DE   Patients have splenomegaly and petechiae, moderate thrombocytopenia,
DE   prolonged bleeding time due to platelet dysfunction, reticulocytosis
DE   and unbalanced (hemo)globin chain synthesis resembling that of beta-
DE   thalassemia minor.
SY   Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis.
DR   MIM; 314050; phenotype.
DR   MedGen; C1839161.
DR   MeSH; D013921.
DR   MeSH; D017086.
//
ID   Thrombocytopenia, anemia, and myelofibrosis.
AC   DI-04987
AR   THAMY.
DE   An autosomal recessive disorder characterized by thrombocytopenia,
DE   increased number of giant platelets, and anemia manifesting in early
DE   childhood. Bone marrow biopsy shows increased number of megakaryocytes
DE   and reticular fibrosis consistent with myelofibrosis.
DR   MIM; 617441; phenotype.
DR   MedGen; CN242238.
DR   MeSH; D000740.
DR   MeSH; D013921.
DR   MeSH; D055728.
//
ID   Thrombocytopenia-absent radius syndrome.
AC   DI-04993
AR   TAR.
DE   An autosomal recessive disorder characterized by bilateral absence of
DE   the radii with the presence of both thumbs, thrombocytopenia, low
DE   numbers of megakaryocytes, and bleeding episodes in the first year of
DE   life. Thrombocytopenic episodes decrease with age. Skeletal anomalies
DE   range from absence of radii to virtual absence of upper limbs, with or
DE   without lower limb defects such as malformations of the hip and knee.
SY   Absent radii and thrombocytopenia.
SY   Radial aplasia-thrombocytopenia syndrome.
SY   TAR syndrome.
DR   MIM; 274000; phenotype.
DR   MedGen; C0175703.
DR   MeSH; D013921.
DR   MeSH; D038062.
//
ID   Thrombophilia 13, X-linked, due to factor VIII defect.
AC   DI-06326
AR   THPH13.
DE   An X-linked dominant, hemostatic disorder associated with markedly
DE   elevated F8 levels, and characterized by severe thrombophilia.
DR   MIM; 301071; phenotype.
DR   MedGen; CN306820.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to activated protein C resistance.
AC   DI-01101
AR   THPH2.
DE   A hemostatic disorder due to defective degradation of factor V by
DE   activated protein C. It is characterized by a poor anticoagulant
DE   response to activated protein C resulting in tendency to thrombosis.
SY   Activated protein C resistance.
SY   APC resistance.
SY   PCCF deficiency.
SY   PROC cofactor deficiency.
SY   Thrombophilia due to deficiency of activated protein C cofactor.
SY   Thrombophilia due to factor V Leiden.
SY   Thrombophilia V.
DR   MIM; 188055; phenotype.
DR   MedGen; C1861171.
DR   MedGen; C2674152.
DR   MeSH; D020016.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to heparin cofactor 2 deficiency.
AC   DI-00541
AR   THPH10.
DE   A hemostatic disorder characterized by a tendency to recurrent
DE   thrombosis.
SY   Heparin cofactor II deficiency.
DR   MIM; 612356; phenotype.
DR   MedGen; C0398626.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to histidine-rich glycoprotein deficiency.
AC   DI-02525
AR   THPH11.
DE   A hemostatic disorder characterized by a tendency to thrombosis.
DR   MIM; 613116; phenotype.
DR   MedGen; C2751090.
DR   MedGen; C2751091.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to protein C deficiency, autosomal dominant.
AC   DI-00956
AR   THPH3.
DE   A hemostatic disorder characterized by impaired regulation of blood
DE   coagulation and a tendency to recurrent venous thrombosis. Individuals
DE   with decreased amounts of protein C are classically referred to as
DE   having type I protein C deficiency and those with normal amounts of a
DE   functionally defective protein as having type II deficiency.
SY   PROC deficiency autosomal dominant.
SY   Protein C deficiency autosomal dominant.
DR   MIM; 176860; phenotype.
DR   MedGen; C2674321.
DR   MedGen; C2674322.
DR   MeSH; D019851.
DR   MeSH; D020151.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to protein C deficiency, autosomal recessive.
AC   DI-00957
AR   THPH4.
DE   A hemostatic disorder characterized by impaired regulation of blood
DE   coagulation and a tendency to recurrent venous thrombosis. It results
DE   in a thrombotic condition that can manifest as a severe neonatal
DE   disorder or as a milder disorder with late-onset thrombophilia. The
DE   severe form leads to neonatal death through massive neonatal venous
DE   thrombosis. Often associated with ecchymotic skin lesions which can
DE   turn necrotic called purpura fulminans, this disorder is very rare.
SY   PROC deficiency autosomal recessive.
SY   Protein C deficiency autosomal recessive.
DR   MIM; 612304; phenotype.
DR   MedGen; C2676759.
DR   MeSH; D019851.
DR   MeSH; D020151.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to protein S deficiency, autosomal dominant.
AC   DI-00958
AR   THPH5.
DE   A hemostatic disorder characterized by impaired regulation of blood
DE   coagulation and a tendency to recurrent venous thrombosis. Based on
DE   the plasma levels of total and free PROS1 as well as the serine
DE   protease-activated protein C cofactor activity, three types of THPH5
DE   have been described: type I, characterized by reduced total and free
DE   PROS1 levels together with reduced anticoagulant activity; type III,
DE   in which only free PROS1 antigen and PROS1 activity levels are
DE   reduced; and the rare type II which is characterized by normal
DE   concentrations of both total and free PROS1 antigen, but low cofactor
DE   activity.
SY   Thrombophilia autosomal dominant due to protein S deficiency.
SY   Thrombophilia autosomal recessive due to protein S deficiency.
DR   MIM; 612336; phenotype.
DR   MedGen; C2676728.
DR   MedGen; C3278211.
DR   MeSH; D018455.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to protein S deficiency, autosomal recessive.
AC   DI-03365
AR   THPH6.
DE   A very rare and severe hematologic disorder resulting in thrombosis
DE   and secondary hemorrhage usually beginning in early infancy. Some
DE   affected individuals develop neonatal purpura fulminans, multifocal
DE   thrombosis, or intracranial hemorrhage.
DR   MIM; 614514; phenotype.
DR   MedGen; C3281092.
DR   MeSH; D018455.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to thrombin defect.
AC   DI-02665
AR   THPH1.
DE   A multifactorial disorder of hemostasis characterized by abnormal
DE   platelet aggregation in response to various agents and recurrent
DE   thrombi formation.
SY   Thrombophilia due to factor 2 defect.
SY   Venous thromboembolism.
SY   Venous thrombosis.
DR   MIM; 188050; phenotype.
DR   MedGen; C0398623.
DR   MedGen; C1861172.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia due to thrombomodulin defect.
AC   DI-01102
AR   THPH12.
DE   A hemostatic disorder characterized by a tendency to thrombosis.
DR   MIM; 614486; phenotype.
DR   MedGen; C1861173.1.
DR   MedGen; C3280976.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombophilia, X-linked, due to factor IX defect.
AC   DI-02524
AR   THPH8.
DE   A hemostatic disorder characterized by a tendency to thrombosis.
DR   MIM; 300807; phenotype.
DR   MedGen; C2749016.
DR   MedGen; C3275410.
DR   MeSH; D019851.
KW   KW-0792:Thrombophilia.
//
ID   Thrombotic thrombocytopenic purpura, hereditary.
AC   DI-01421
AR   TTP.
DE   An autosomal recessive hematologic disease characterized by hemolytic
DE   anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse
DE   and non-focal neurologic findings, decreased renal function and fever.
SY   Deficiency of Upshaw factor.
SY   Microangiopathic hemolytic anemia.
SY   Microangiopathic hemolytic anemia congenital.
SY   Moschkowitz disease.
SY   Schulman-Upshaw syndrome.
SY   Thrombotic microangiopathy familial.
SY   Thrombotic thrombocytopenic purpura familial.
SY   Upshaw-Schulman syndrome.
SY   USS.
DR   MIM; 274150; phenotype.
DR   MedGen; C1268935.
DR   MedGen; C1956258.
DR   MeSH; D011697.
//
ID   Thyroid cancer, non-medullary, 1.
AC   DI-02698
AR   NMTC1.
DE   A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE   by tumors originating from the thyroid follicular cells. NMTCs
DE   represent approximately 95% of all cases of thyroid cancer and are
DE   classified into papillary, follicular, Hurthle cell, and anaplastic
DE   neoplasms.
SY   Familial non-medullary thyroid cancer.
SY   Familial nonmedullary thyroid cancer, papillary.
SY   FNMTC.
SY   NMTC.
SY   Nonmedullary thyroid carcinoma.
SY   Non-medullary thyroid carcinoma.
SY   Nonmedullary thyroid carcinoma, papillary.
SY   PACT.
SY   Papillary carcinoma of thyroid.
SY   PTC.
SY   TPC.
DR   MIM; 188550; phenotype.
DR   MedGen; C0238463.
DR   MeSH; D013964.
//
ID   Thyroid cancer, non-medullary, 2.
AC   DI-04532
AR   NMTC2.
DE   A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE   by tumors originating from the thyroid follicular cells. NMTCs
DE   represent approximately 95% of all cases of thyroid cancer and are
DE   classified into papillary, follicular, Hurthle cell, and anaplastic
DE   neoplasms.
DR   MIM; 188470; phenotype.
DR   MedGen; C0206682.
DR   MeSH; D013964.
//
ID   Thyroid cancer, non-medullary, 4.
AC   DI-04530
AR   NMTC4.
DE   A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE   by tumors originating from the thyroid follicular cells. NMTCs
DE   represent approximately 95% of all cases of thyroid cancer and are
DE   classified into papillary, follicular, Hurthle cell, and anaplastic
DE   neoplasms.
SY   Thyroid cancer, nonmedullary, 4.
DR   MIM; 616534; phenotype.
DR   MedGen; CN232391.
DR   MeSH; D013964.
//
ID   Thyroid cancer, non-medullary, 5.
AC   DI-04531
AR   NMTC5.
DE   A form of non-medullary thyroid cancer (NMTC), a cancer characterized
DE   by tumors originating from the thyroid follicular cells. NMTCs
DE   represent approximately 95% of all cases of thyroid cancer and are
DE   classified into papillary, follicular, Hurthle cell, and anaplastic
DE   neoplasms.
SY   Thyroid cancer, nonmedullary, 5.
DR   MIM; 616535; phenotype.
DR   MedGen; CN232392.
DR   MeSH; D013964.
//
ID   Thyroid dyshormonogenesis 1.
AC   DI-00359
AR   TDH1.
DE   A disorder characterized by the inability of the thyroid to maintain a
DE   concentration difference of readily exchangeable iodine between the
DE   plasma and the thyroid gland, leading to congenital hypothyroidism.
SY   CHDH1.
SY   Congenital hypothyroidism due to dyshormonogenesis type 1.
SY   Genetic defect in thyroid hormonogenesis 1.
SY   Iodine accumulation, transport or trapping defect.
DR   MIM; 274400; phenotype.
DR   MedGen; C1848805.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid dyshormonogenesis 2A.
AC   DI-00360
AR   TDH2A.
DE   A disorder due to defective conversion of accumulated iodide to
DE   organically bound iodine. The iodide organification defect can be
DE   partial or complete.
SY   CHDH2A.
SY   Congenital hypothyroidism due to dyshormonogenesis type 2A.
SY   Genetic defect in thyroid hormonogenesis 2A.
SY   Iodide peroxidase deficiency.
SY   Thyroid hormone organification defect 2.
SY   TIOD.
DR   MIM; 274500; phenotype.
DR   MedGen; C1291299.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid dyshormonogenesis 3.
AC   DI-02526
AR   TDH3.
DE   A disorder due to thyroid dyshormonogenesis, causing large goiters of
DE   elastic and soft consistency in the majority of patients. Although the
DE   degree of thyroid dysfunction varies considerably among patients with
DE   defective thyroglobulin synthesis, patients usually have a relatively
DE   high serum free triiodothyronine (T3) concentration with
DE   disproportionately low free tetraiodothyronine (T4) level. The
DE   maintenance of relatively high free T3 levels prevents profound tissue
DE   hypothyroidism except in brain and pituitary, which are dependent on
DE   T4 supply, resulting in neurologic and intellectual defects in some
DE   cases.
SY   CHDH3.
SY   Congenital hypothyroidism due to dyshormonogenesis type 3.
SY   Genetic defect in thyroid hormonogenesis type 3.
DR   MIM; 274700; phenotype.
DR   MedGen; C0342194.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid dyshormonogenesis 4.
AC   DI-01403
AR   TDH4.
DE   A disorder due to thyroid dyshormonogenesis, causing severe
DE   hypothyroidism, goiter, excessive levels of iodotyrosine in serum and
DE   urine, and variable mental deficits derived from unrecognized and
DE   untreated hypothyroidism.
SY   CHDH4.
SY   Congenital hypothyroidism due to dyshormonogenesis type 4.
SY   Deiodinase deficiency.
SY   Genetic defect in thyroid hormonogenesis type 4.
SY   Iodotyrosine dehalogenase deficiency.
DR   MIM; 274800; phenotype.
DR   MedGen; C0342195.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid dyshormonogenesis 5.
AC   DI-02527
AR   TDH5.
DE   A disorder due to thyroid dyshormonogenesis, causing hypothyroidism,
DE   goiter, and variable mental deficits derived from unrecognized and
DE   untreated hypothyroidism.
SY   CHDH5.
SY   Congenital hypothyroidism due to dyshormonogenesis type 5.
SY   Genetic defect in thyroid hormonogenesis type 5.
DR   MIM; 274900; phenotype.
DR   MedGen; C0342196.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid dyshormonogenesis 6.
AC   DI-00361
AR   TDH6.
DE   A disorder due to a defective conversion of accumulated iodide to
DE   organically bound iodine. The iodide organification defect can be
DE   partial or complete.
SY   CHDH6.
SY   Congenital hypothyroidism due to dyshormonogenesis type 6.
SY   Genetic defect in thyroid hormonogenesis 6.
DR   MIM; 607200; phenotype.
DR   MedGen; C1846632.
DR   MeSH; D003409.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Thyroid hormone metabolism, abnormal, 1.
AC   DI-00015
AR   THMA1.
DE   A disorder associated with a reduction in type II iodothyronine
DE   deiodinase activity.
SY   THMA.
SY   Thyroid hormone metabolism, abnormal.
DR   MIM; 609698; phenotype.
DR   MedGen; C1864761.
DR   MeSH; D013959.
//
ID   Thyroid hormone metabolism, abnormal, 2.
AC   DI-06406
AR   THMA2.
DE   An autosomal dominant disorder characterized by slightly increased
DE   thyroid-stimulating hormone levels, and elevated serum reverse
DE   triiodothyronine (rT3) levels and rT3/T3 ratios.
DR   MIM; 619855; phenotype.
DR   MedGen; CN311881.
DR   MeSH; D013959.
//
ID   Thyroid hormone resistance, generalized, autosomal dominant.
AC   DI-01654
AR   GRTHD.
DE   An autosomal dominant disease characterized by high levels of
DE   circulating thyroid hormones (T3-T4), goiter, abnormal mental
DE   functions, increased susceptibility to infections, abnormal growth and
DE   bone maturation, tachycardia and deafness. Affected individuals may
DE   also have attention deficit-hyperactivity disorders (ADHD) and
DE   language difficulties. Patients have normal or slightly elevated
DE   thyroid stimulating hormone (TSH).
SY   Familial euthyroid hyperthyroxinemia, secondary to pituitary and peripheral resistance to thyroid hormones.
SY   GTHR.
SY   Thyroid hormone unresponsiveness.
DR   MIM; 188570; phenotype.
DR   MedGen; C2937288.
DR   MeSH; D006981.
//
ID   Thyroid hormone resistance, generalized, autosomal recessive.
AC   DI-03097
AR   GRTHR.
DE   An autosomal recessive disorder characterized by goiter, clinical
DE   euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal
DE   growth and bone maturation, and deafness. Patients also have high
DE   levels of circulating thyroid hormones, with elevated thyroid
DE   stimulating hormone.
SY   GTHR.
SY   Refetoff syndrome.
SY   Thyroid hormone unresponsiveness.
DR   MIM; 274300; phenotype.
DR   MedGen; C3489796.
DR   MeSH; D018382.
//
ID   Thyrotoxic periodic paralysis 1.
AC   DI-02368
AR   TTPP1.
DE   A sporadic muscular disorder characterized by episodic weakness and
DE   hypokalemia during a thyrotoxic state. It is clinically similar to
DE   hereditary hypokalemic periodic paralysis, except for the fact that
DE   hyperthyroidism is an absolute requirement for disease manifestation.
DE   The disease presents with recurrent episodes of acute muscular
DE   weakness of the four extremities that vary in severity from paresis to
DE   complete paralysis. Attacks are triggered by ingestion of a high
DE   carbohydrate load or strenuous physical activity followed by a period
DE   of rest. Thyrotoxic periodic paralysis can occur in association with
DE   any cause of hyperthyroidism, but is most commonly associated with
DE   Graves disease.
SY   Thyrotoxic hypokalemic periodic paralysis.
SY   TPP.
DR   MIM; 188580; phenotype.
DR   MedGen; C0268446.
DR   MedGen; C2749982.
DR   MeSH; D010245.
//
ID   Thyrotoxic periodic paralysis 2.
AC   DI-02615
AR   TTPP2.
DE   A sporadic muscular disorder characterized by episodic weakness and
DE   hypokalemia during a thyrotoxic state. It is clinically similar to
DE   hereditary hypokalemic periodic paralysis, except for the fact that
DE   hyperthyroidism is an absolute requirement for disease manifestation.
DE   The disease presents with recurrent episodes of acute muscular
DE   weakness of the four extremities that vary in severity from paresis to
DE   complete paralysis. Attacks are triggered by ingestion of a high
DE   carbohydrate load or strenuous physical activity followed by a period
DE   of rest. Thyrotoxic periodic paralysis can occur in association with
DE   any cause of hyperthyroidism, but is most commonly associated with
DE   Graves disease.
SY   Thyrotoxic hypokalemic periodic paralysis.
SY   TPP.
DR   MIM; 613239; phenotype.
DR   MedGen; C2750473.
DR   MeSH; D010245.
//
ID   Tietz albinism-deafness syndrome.
AC   DI-02369
AR   TADS.
DE   An autosomal dominant disorder characterized by generalized
DE   hypopigmentation and congenital, bilateral, profound sensorineural
DE   deafness.
SY   Albinism-deafness of Tietz.
SY   Hypopigmentation/deafness of Tietz.
SY   Tietz syndrome.
DR   MIM; 103500; phenotype.
DR   MedGen; C0391816.
DR   MeSH; D003638.
DR   MeSH; D016115.
KW   KW-0015:Albinism.
KW   KW-0209:Deafness.
//
ID   Timothy syndrome.
AC   DI-02370
AR   TS.
DE   Disorder characterized by multiorgan dysfunction including lethal
DE   arrhythmias, webbing of fingers and toes, congenital heart disease,
DE   immune deficiency, intermittent hypoglycemia, cognitive abnormalities
DE   and autism.
SY   Long QT syndrome with syndactyly.
DR   MIM; 601005; phenotype.
DR   MedGen; C1832916.
DR   MeSH; D008133.
DR   MeSH; D013576.
KW   KW-0454:Long QT syndrome.
KW   KW-1269:Autism.
//
ID   Tn polyagglutination syndrome.
AC   DI-02372
AR   TNPS.
DE   A clonal disorder characterized by the polyagglutination of red blood
DE   cells by naturally occurring anti-Tn antibodies following exposure of
DE   the Tn antigen on the surface of erythrocytes. Only a subset of red
DE   cells express the antigen, which can also be expressed on platelets
DE   and leukocytes. This condition may occur in healthy individuals who
DE   manifest asymptomatic anemia, leukopenia, or thrombocytopenia.
DE   However, there is also an association between the Tn antigen and
DE   leukemia or myelodysplastic disorders.
SY   Galactosyltransferase deficiency.
SY   Tn syndrome.
DR   MIM; 300622; phenotype.
DR   MedGen; C0272137.
DR   MeSH; D006402.
//
ID   Toe syndactyly, telecanthus, and anogenital and renal malformations.
AC   DI-02373
AR   STAR.
DE   A syndrome characterized by anal, genital and renal tract anomalies,
DE   facial dysmorphism and syndactyly. Features include anal stenosis, a
DE   rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe
DE   syndactyly, and telecanthus.
SY   STAR syndrome.
SY   Syndactyly with renal and anogenital malformations.
DR   MIM; 300707; phenotype.
DR   MedGen; C2678045.
DR   MeSH; D013576.
DR   MeSH; D014564.
//
ID   Tolchin-Le Caignec syndrome.
AC   DI-05890
AR   TOLCAS.
DE   An autosomal dominant disorder characterized by mildly to moderately
DE   impaired intellectual development and behavioral problems, such as
DE   autism, attention deficit and hyperactivity disorder, and aggressive
DE   episodes. Highly variable, additional features include osteochondroma,
DE   craniosynostosis, dysmorphic facies, arachnodactyly, and large head
DE   circumference.
SY   Intellectual developmental disorder with behavioral abnormalities and variable bone defects.
DR   MIM; 618971; phenotype.
DR   MedGen; CN283309.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Tonne-Kalscheuer syndrome.
AC   DI-04795
AR   TOKAS.
DE   An X-linked recessive disorder characterized by global developmental
DE   delay apparent from early infancy, impaired intellectual development,
DE   speech delay, behavioral abnormalities, abnormal gait, dysmorphic
DE   facial features, limb anomalies, and urogenital abnormalities with
DE   hypogenitalism. A subset of more severely affected males develop
DE   congenital diaphragmatic hernia in utero, which may result in
DE   perinatal or premature death. Carrier females may have very mild
DE   skeletal or hormonal abnormalities.
SY   MRX61.
DR   MIM; 300978; phenotype.
DR   MedGen; CN237806.
DR   MeSH; D038901.
KW   KW-0991:Intellectual disability.
//
ID   Tooth agenesis, selective, 1.
AC   DI-01211
AR   STHAG1.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth). STHAG1 can be associated with orofacial cleft in some
DE   patients.
SY   Absence of second premolars and third molars.
SY   Familial tooth agenesis.
SY   HYD1.
SY   Hypodontia/oligodontia 1.
SY   Hypodontia/oligodontia with orofacial cleft.
SY   Selective tooth agenesis 1.
SY   Selective tooth agenesis with orofacial cleft.
DR   MIM; 106600; phenotype.
DR   MedGen; C0020608.
DR   MedGen; C1970117.
DR   MedGen; C1970118.
DR   MedGen; C3489529.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 10.
AC   DI-06568
AR   STHAG10.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth). STHAG10 inheritance is autosomal recessive.
DR   MIM; 620173; phenotype.
DR   MedGen; CN322655.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 3.
AC   DI-02091
AR   STHAG3.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth).
SY   HYD3.
SY   Hypodontia/oligodontia 3.
SY   Selective tooth agenesis 3.
DR   MIM; 604625; phenotype.
DR   MedGen; C1970291.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 4.
AC   DI-03619
AR   STHAG4.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth). In STHAG4, the upper lateral incisors are absent or peg-
DE   shaped. Some STHAG4 patients manifest mild features of ectodermal
DE   dysplasia, including sparse hair, sparse eyebrows, short eyelashes,
DE   abnormalities of the nails, sweating anomalies and dry skin. STHAG4
DE   inheritance is autosomal dominant or autosomal recessive.
SY   Absence of lateral incisors.
SY   Agenesis of succedaneous teeth.
SY   Pegged or missing lateral incisors.
SY   Selective tooth agenesis 4.
SY   Tooth agenesis, selective, 4, with or without ectodermal dysplasia.
DR   MIM; 150400; phenotype.
DR   MedGen; C1835492.
DR   MedGen; C1835493.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 7.
AC   DI-04606
AR   STHAG7.
DE   An autosomal dominant form of selective tooth agenesis, a common
DE   anomaly characterized by the congenital absence of one or more teeth.
DE   Selective tooth agenesis without associated systemic disorders has
DE   sometimes been divided into 2 types: oligodontia, defined as agenesis
DE   of 6 or more permanent teeth, and hypodontia, defined as agenesis of
DE   less than 6 teeth. The number in both cases does not include absence
DE   of third molars (wisdom teeth).
SY   Selective tooth agenesis 7.
DR   MIM; 616724; phenotype.
DR   MedGen; CN234662.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 8.
AC   DI-04805
AR   STHAG8.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth). STHAG8 inheritance is autosomal dominant.
SY   Selective tooth agenesis 8.
DR   MIM; 617073; phenotype.
DR   MedGen; CN237797.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, 9.
AC   DI-04899
AR   STHAG9.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth). STHAG9 inheritance is autosomal dominant.
DR   MIM; 617275; phenotype.
DR   MedGen; CN239933.
DR   MeSH; D000848.
//
ID   Tooth agenesis, selective, X-linked, 1.
AC   DI-01788
AR   STHAGX1.
DE   A form of selective tooth agenesis, a common anomaly characterized by
DE   the congenital absence of one or more teeth. Selective tooth agenesis
DE   without associated systemic disorders has sometimes been divided into
DE   2 types: oligodontia, defined as agenesis of 6 or more permanent
DE   teeth, and hypodontia, defined as agenesis of less than 6 teeth. The
DE   number in both cases does not include absence of third molars (wisdom
DE   teeth).
SY   Hypodontia/oligodontia X-linked 1.
DR   MIM; 313500; phenotype.
DR   MedGen; C1970757.
DR   MeSH; D000848.
//
ID   Tortuosity of retinal arteries.
AC   DI-04437
AR   RATOR.
DE   A disease characterized by marked tortuosity of second- and third-
DE   order retinal arteries with normal first-order arteries and venous
DE   system. Most patients manifest variable degrees of symptomatic
DE   transient vision loss due to retinal hemorrhage following minor stress
DE   or trauma.
SY   Retinal arteries, tortuosity of.
SY   Retinal hemorrhage with vascular tortuosity.
DR   MIM; 180000; phenotype.
DR   MedGen; C1867327.
DR   MeSH; D012166.
//
ID   Total anomalous pulmonary venous return.
AC   DI-02375
AR   TAPVR.
DE   Rare congenital heart disease (CHD) in which the pulmonary veins fail
DE   to connect to the left atrium during cardiac development, draining
DE   instead into either the right atrium or one of its venous tributaries.
DE   This disease accounts for 1.5% of all CHDs and has a prevalence of
DE   approximately 1 out of 15'000 live births.
DR   MIM; 106700; phenotype.
DR   MedGen; C0036400.
//
ID   Townes-Brocks syndrome 1.
AC   DI-02376
AR   TBS1.
DE   A form of Townes-Brocks syndrome, a rare autosomal dominant disease
DE   characterized by the triad of imperforate anus, dysplastic ears, and
DE   thumb malformations. Minor features of the condition include hearing
DE   loss, foot malformations, renal impairment with or without renal
DE   malformations, genitourinary malformations, and congenital heart
DE   disease.
SY   Anus, imperforate, with hand, foot, and ear anomalies.
SY   Deafness, sensorineural, with imperforate anus and thumb anomalies.
SY   Rear syndrome.
SY   Renal-ear-anal-radial syndrome.
SY   Townes-Brocks branchiootorenal-like syndrome.
DR   MIM; 107480; phenotype.
DR   MedGen; C0265246.
DR   MedGen; C1862683.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
//
ID   Townes-Brocks syndrome 2.
AC   DI-04995
AR   TBS2.
DE   A form of Townes-Brocks syndrome, a rare autosomal dominant disease
DE   characterized by the triad of imperforate anus, dysplastic ears, and
DE   thumb malformations. Minor features of the condition include hearing
DE   loss, foot malformations, renal impairment with or without renal
DE   malformations, genitourinary malformations, and congenital heart
DE   disease.
DR   MIM; 617466; phenotype.
DR   MedGen; CN243870.
DR   MeSH; D000015.
//
ID   Transaldolase deficiency.
AC   DI-02377
AR   TALDOD.
DE   An inborn error of the pentose phosphate pathway resulting in early-
DE   onset multisystem disease. Clinical features include growth
DE   retardation, dysmorphic features, cutis laxa, congenital heart
DE   disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia,
DE   and bleeding tendency.
SY   Eyaid syndrome.
SY   TALDO deficiency.
DR   MIM; 606003; phenotype.
DR   MedGen; C1291329.
DR   MeSH; D002239.
//
ID   Transcobalamin II deficiency.
AC   DI-02378
AR   TCN2 deficiency.
DE   Results in various forms of anemia.
DR   MIM; 275350; phenotype.
DR   MedGen; C0342701.
//
ID   Transient bullous dermolysis of the newborn.
AC   DI-01103
AR   TBDN.
DE   TBDN is a neonatal form of dystrophic epidermolysis bullosa
DE   characterized by sub-epidermal blisters, reduced or abnormal anchoring
DE   fibrils at the dermo-epidermal junction, and electron-dense inclusions
DE   in keratinocytes. TBDN heals spontaneously or strongly improves within
DE   the first months and years of life.
SY   Epidermolysis bullosa dystrophica dominant neonatal type.
DR   MIM; 131705; phenotype.
DR   MedGen; C1851573.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Transient familial neonatal hyperbilirubinemia.
AC   DI-02379
AR   HBLRTFN.
DE   A condition characterized by excessive concentration of bilirubin in
DE   the blood, which may lead to jaundice. Breast milk jaundice is a
DE   common problem in nursing infants.
SY   Lucey-Driscoll syndrome.
DR   MIM; 237900; phenotype.
DR   MedGen; C0270210.
DR   MedGen; C0270215.
DR   MedGen; C1855967.
//
ID   Transient neonatal diabetes mellitus 2.
AC   DI-02381
AR   TNDM2.
DE   Neonatal diabetes is a form of diabetes mellitus defined by the onset
DE   of mild-to-severe hyperglycemia within the first months of life.
DE   Transient neonatal diabetes remits early, with a possible relapse
DE   during adolescence.
DR   MIM; 610374; phenotype.
DR   MedGen; C1835887.
//
ID   Transient neonatal diabetes mellitus 3.
AC   DI-02382
AR   TNDM3.
DE   Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia
DE   within the first month of life, is a rare entity. In about half of the
DE   neonates, diabetes is transient and resolves at a median age of 3
DE   months, whereas the rest have a permanent form of diabetes. In a
DE   significant number of patients with transient neonatal diabetes
DE   mellitus, diabetes type 2 appears later in life. The onset and
DE   severity of TNDM3 is variable with childhood-onset diabetes,
DE   gestational diabetes or adult-onset diabetes described.
DR   MIM; 610582; phenotype.
DR   MedGen; C1864623.
//
ID   Transposition of the great arteries dextro-looped 1.
AC   DI-02383
AR   DTGA1.
DE   A congenital heart defect consisting of complete inversion of the
DE   great vessels, so that the aorta incorrectly arises from the right
DE   ventricle and the pulmonary artery incorrectly arises from the left
DE   ventricle. This creates completely separate pulmonary and systemic
DE   circulatory systems, an arrangement that is incompatible with life.
DE   The presence or absence of associated cardiac anomalies defines the
DE   clinical presentation and surgical management of patients with
DE   transposition of the great arteries.
SY   D-TGA.
DR   MIM; 608808; phenotype.
DR   MedGen; C1837341.
DR   MeSH; D014188.
//
ID   Treacher Collins syndrome 1.
AC   DI-02384
AR   TCS1.
DE   A form of Treacher Collins syndrome, a disorder of craniofacial
DE   development. Treacher Collins syndrome is characterized by a
DE   combination of bilateral downward slanting of the palpebral fissures,
DE   colobomas of the lower eyelids with a paucity of eyelashes medial to
DE   the defect, hypoplasia of the facial bones, cleft palate, malformation
DE   of the external ears, atresia of the external auditory canals, and
DE   bilateral conductive hearing loss.
SY   Mandibulofacial dysostosis.
SY   MFD1.
SY   TCOF.
SY   TCS.
SY   Treacher Collins-Franceschetti syndrome.
SY   Treacher Collins syndrome.
DR   MIM; 154500; phenotype.
DR   MedGen; C0242387.
DR   MedGen; CN119605.
DR   MeSH; D008342.
//
ID   Treacher Collins syndrome 2.
AC   DI-02964
AR   TCS2.
DE   A form of Treacher Collins syndrome, a disorder of craniofacial
DE   development. Treacher Collins syndrome is characterized by a
DE   combination of bilateral downward slanting of the palpebral fissures,
DE   colobomas of the lower eyelids with a paucity of eyelashes medial to
DE   the defect, hypoplasia of the facial bones, cleft palate, malformation
DE   of the external ears, atresia of the external auditory canals, and
DE   bilateral conductive hearing loss.
DR   MIM; 613717; phenotype.
DR   MedGen; C3150983.
DR   MeSH; D008342.
//
ID   Treacher Collins syndrome 3.
AC   DI-02965
AR   TCS3.
DE   A form of Treacher Collins syndrome, a disorder of craniofacial
DE   development. Treacher Collins syndrome is characterized by a
DE   combination of bilateral downward slanting of the palpebral fissures,
DE   colobomas of the lower eyelids with a paucity of eyelashes medial to
DE   the defect, hypoplasia of the facial bones, cleft palate, malformation
DE   of the external ears, atresia of the external auditory canals, and
DE   bilateral conductive hearing loss.
SY   Mandibulofacial dysostosis Treacher Collins type autosomal recessive.
DR   MIM; 248390; phenotype.
DR   MedGen; C1855433.
DR   MeSH; D008342.
//
ID   Treacher Collins syndrome 4.
AC   DI-05871
AR   TCS4.
DE   A form of Treacher Collins syndrome, a disorder of craniofacial
DE   development. Treacher Collins syndrome is characterized by a
DE   combination of bilateral downward slanting of the palpebral fissures,
DE   colobomas of the lower eyelids with a paucity of eyelashes medial to
DE   the defect, hypoplasia of the facial bones, cleft palate, malformation
DE   of the external ears, atresia of the external auditory canals, and
DE   bilateral conductive hearing loss. TCS4 inheritance pattern is
DE   autosomal dominant.
SY   Treacher-Collins syndrome 4.
DR   MIM; 618939; phenotype.
DR   MedGen; CN283261.
DR   MeSH; D008342.
//
ID   Trehalase deficiency.
AC   DI-05182
AR   TREHD.
DE   An autosomal recessive condition characterized by the inability to
DE   digest trehalose, a disaccharide found in mushrooms, products
DE   containing baker's yeast, and dried food. Individuals with trehalase
DE   deficiency suffer from abdominal pain, increased rectal flatulence,
DE   and diarrhea due to osmotic water flow into the colon.
SY   Trehalose intolerance.
DR   MIM; 612119; phenotype.
DR   MedGen; C0268187.
DR   MeSH; D030342.
//
ID   Tremor, hereditary essential 1.
AC   DI-02733
AR   ETM1.
DE   A common movement disorder mainly characterized by postural tremor of
DE   the arms. Head, legs, trunk, voice, jaw, and facial muscles may also
DE   be involved. The condition can be aggravated by emotions, hunger,
DE   fatigue and temperature extremes, and may cause a functional
DE   disability or even incapacitation. Inheritance is autosomal dominant.
DR   MIM; 190300; phenotype.
DR   MedGen; C1860861.
DR   MeSH; D020329.
//
ID   Tremor, hereditary essential 4.
AC   DI-03518
AR   ETM4.
DE   A common movement disorder mainly characterized by postural tremor of
DE   the arms. Head, legs, trunk, voice, jaw, and facial muscles may also
DE   be involved. The condition can be aggravated by emotions, hunger,
DE   fatigue and temperature extremes, and may cause a functional
DE   disability or even incapacitation. Inheritance is autosomal dominant.
DR   MIM; 614782; phenotype.
DR   MedGen; C3539195.
DR   MedGen; CN143717.
DR   MeSH; D020329.
//
ID   Tremor, hereditary essential 5.
AC   DI-04630
AR   ETM5.
DE   A common movement disorder mainly characterized by postural tremor of
DE   the arms. Head, legs, trunk, voice, jaw, and facial muscles may also
DE   be involved. The condition can be aggravated by emotions, hunger,
DE   fatigue and temperature extremes, and may cause a functional
DE   disability or even incapacitation. Inheritance is autosomal dominant.
DR   MIM; 616736; phenotype.
DR   MedGen; CN234874.
DR   MeSH; D020329.
//
ID   Tremor, hereditary essential 6.
AC   DI-05828
AR   ETM6.
DE   A form of essential tremor, a common movement disorder mainly
DE   characterized by postural tremor of the arms. Head, legs, trunk,
DE   voice, jaw, and facial muscles may also be involved. The condition can
DE   be aggravated by emotions, hunger, fatigue and temperature extremes,
DE   and may cause a functional disability or even incapacitation. ETM6
DE   inheritance is autosomal dominant.
DR   MIM; 618866; phenotype.
DR   MedGen; CN280880.
DR   MeSH; D020329.
//
ID   Tricho-rhino-phalangeal syndrome 1.
AC   DI-02385
AR   TRPS1.
DE   Autosomal dominant disorder characterized by craniofacial and skeletal
DE   abnormalities. It is allelic with tricho-rhino-phalangeal type 3.
DE   Typical features include sparse scalp hair, a bulbous tip of the nose,
DE   protruding ears, a long flat philtrum and a thin upper vermilion
DE   border. Skeletal defects include cone-shaped epiphyses at the
DE   phalanges, hip malformations and short stature.
SY   Trichorhinophalangeal syndrome type I.
DR   MIM; 190350; phenotype.
DR   MedGen; C0432233.
//
ID   Tricho-rhino-phalangeal syndrome 2.
AC   DI-02005
AR   TRPS2.
DE   A syndrome that combines the clinical features of tricho-rhino-
DE   phalangeal syndrome type 1 and multiple exostoses type 1. Affected
DE   individuals manifest multiple dysmorphic facial features including
DE   large, laterally protruding ears, a bulbous nose, an elongated upper
DE   lip, as well as sparse scalp hair, winged scapulae, multiple
DE   cartilaginous exostoses, redundant skin, and intellectual disability.
DR   MIM; 150230; phenotype.
DR   MedGen; C0023003.
//
ID   Tricho-rhino-phalangeal syndrome 3.
AC   DI-02386
AR   TRPS3.
DE   Autosomal dominant disorder characterized by craniofacial and skeletal
DE   abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In
DE   TRPS3 a more severe brachydactyly and growth retardation are observed.
SY   Trichorhinophalangeal syndrome type III.
DR   MIM; 190351; phenotype.
DR   MedGen; C1860823.
//
ID   Trichodentoosseous syndrome.
AC   DI-02387
AR   TDO.
DE   An autosomal dominant disease characterized by curly kinky hair at
DE   birth, enamel hypoplasia, taurodontism, thickening of cortical bones
DE   and variable expression of craniofacial morphology.
SY   TDO syndrome.
DR   MIM; 190320; phenotype.
DR   MedGen; C0265333.
DR   MeSH; D006201.
DR   MeSH; D014071.
DR   MeSH; D019465.
//
ID   Trichohepatoenteric syndrome 1.
AC   DI-03421
AR   THES1.
DE   A syndrome characterized by intrauterine growth retardation, severe
DE   diarrhea in infancy requiring total parenteral nutrition, facial
DE   dysmorphism, immunodeficiency, and hair abnormalities, mostly
DE   trichorrhexis nodosa. Hepatic involvement contributes to the poor
DE   prognosis of affected patients.
SY   Fatal infantile diarrhea with trichorrhexis nodosa.
SY   Intractable diarrhea with phenotypic anomalies.
SY   Phenotypic diarrhea of infancy.
SY   Syndromic diarrhea.
SY   THE syndrome.
DR   MIM; 222470; phenotype.
DR   MedGen; C1857276.
DR   MeSH; D003968.
//
ID   Trichohepatoenteric syndrome 2.
AC   DI-03422
AR   THES2.
DE   A syndrome characterized by intrauterine growth retardation, severe
DE   diarrhea in infancy requiring total parenteral nutrition, facial
DE   dysmorphism, immunodeficiency, and hair abnormalities, mostly
DE   trichorrhexis nodosa. Hepatic involvement contributes to the poor
DE   prognosis of affected patients.
DR   MIM; 614602; phenotype.
DR   MedGen; C3281289.
DR   MeSH; D003968.
//
ID   Trichohepatoneurodevelopmental syndrome.
AC   DI-05454
AR   THNS.
DE   An autosomal recessive complex multisystem disorder characterized by
DE   woolly or coarse hair, liver dysfunction, pruritus, dysmorphic
DE   features, hypotonia, and global developmental delay.
DR   MIM; 618268; phenotype.
DR   MedGen; CN257945.
DR   MeSH; D000015.
//
ID   Trichomegaly.
AC   DI-04213
AR   TCMGLY.
DE   A morphologic trait characterized by unusually long eyelashes and mild
DE   hypertrichosis of eyebrows. It can be observed in association with
DE   corneal irritation, cataracts, and hereditary spherocytosis.
SY   Goldstein Hutt syndrome.
SY   Long eyelashes.
SY   Movie lashes.
DR   MIM; 190330; phenotype.
DR   MedGen; C0854699.
DR   MeSH; D005128.
//
ID   Trichothiodystrophy 1, photosensitive.
AC   DI-01104
AR   TTD1.
DE   A form of trichothiodystrophy, an autosomal recessive disease
DE   characterized by sulfur-deficient brittle hair and multisystem
DE   variable abnormalities. The spectrum of clinical features varies from
DE   mild disease with only hair involvement to severe disease with
DE   cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE   intellectual and developmental disabilities, decreased fertility,
DE   abnormal characteristics at birth, ocular abnormalities, short
DE   stature, and infections are common manifestations. There are both
DE   photosensitive and non-photosensitive forms of the disorder. TTD1
DE   patients manifest cutaneous photosensitivity.
SY   IBIDS syndrome.
SY   Ichthyosiform erythroderma with hair abnormality and mental and growth retardation.
SY   Ichthyosis, congenital, with trichothiodystrophy.
SY   Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature.
SY   PIBIDS syndrome.
SY   Tay syndrome.
SY   Trichothiodystrophy photosensitive.
SY   Trichothiodystrophy with congenital ichthyosis.
SY   TTDP.
DR   MIM; 601675; phenotype.
DR   MedGen; C0432267.
DR   MedGen; C1866504.
DR   MedGen; C1866505.
DR   MeSH; D054463.
KW   KW-0977:Ichthyosis.
//
ID   Trichothiodystrophy 2, photosensitive.
AC   DI-04433
AR   TTD2.
DE   A form of trichothiodystrophy, an autosomal recessive disease
DE   characterized by sulfur-deficient brittle hair and multisystem
DE   variable abnormalities. The spectrum of clinical features varies from
DE   mild disease with only hair involvement to severe disease with
DE   cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE   intellectual and developmental disabilities, decreased fertility,
DE   abnormal characteristics at birth, ocular abnormalities, short
DE   stature, and infections are common manifestations. There are both
DE   photosensitive and non-photosensitive forms of the disorder.
DR   MIM; 616390; phenotype.
DR   MedGen; CN230761.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 3, photosensitive.
AC   DI-04434
AR   TTD3.
DE   A form of trichothiodystrophy, an autosomal recessive disease
DE   characterized by sulfur-deficient brittle hair and multisystem
DE   variable abnormalities. The spectrum of clinical features varies from
DE   mild disease with only hair involvement to severe disease with
DE   cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE   intellectual and developmental disabilities, decreased fertility,
DE   abnormal characteristics at birth, ocular abnormalities, short
DE   stature, and infections are common manifestations. There are both
DE   photosensitive and non-photosensitive forms of the disorder.
SY   Trichothiodystrophy, complementation group A.
SY   TTDA.
DR   MIM; 616395; phenotype.
DR   MedGen; CN230763.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 4, non-photosensitive.
AC   DI-01105
AR   TTD4.
DE   A form of trichothiodystrophy, an autosomal recessive disease
DE   characterized by sulfur-deficient brittle hair and multisystem
DE   variable abnormalities. The spectrum of clinical features varies from
DE   mild disease with only hair involvement to severe disease with
DE   cutaneous, neurologic and profound developmental defects. Ichthyosis,
DE   intellectual and developmental disabilities, decreased fertility,
DE   abnormal characteristics at birth, ocular abnormalities, short
DE   stature, and infections are common manifestations. There are both
DE   photosensitive and non-photosensitive forms of the disorder. TTD4
DE   patients do not manifest cutaneous photosensitivity.
SY   ABHS.
SY   Amish brittle hair brain syndrome.
SY   BIDS syndrome.
SY   Hair-brain syndrome.
SY   Pollitt syndrome.
SY   Trichorrhexis nodosa syndrome.
SY   Trichothiodystrophy, nonphotosensitive 1.
SY   Trichothiodystrophy-neurocutaneous syndrome.
SY   Trichothiodystrophy non-photosensitive 1.
SY   TTDN1.
DR   MIM; 234050; phenotype.
DR   MedGen; C0740342.
DR   MedGen; C1961117.
DR   MedGen; C3495483.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 5, non-photosensitive.
AC   DI-04442
AR   TTD5.
DE   An X-linked form of trichothiodystrophy, a disease characterized by
DE   sulfur-deficient brittle hair and multisystem variable abnormalities.
DE   The spectrum of clinical features varies from mild disease with only
DE   hair involvement to severe disease with cutaneous, neurologic and
DE   profound developmental defects. Ichthyosis, intellectual and
DE   developmental disabilities, decreased fertility, abnormal
DE   characteristics at birth, ocular abnormalities, short stature, and
DE   infections are common manifestations. There are both photosensitive
DE   and non-photosensitive forms of the disorder. TTD5 features include
DE   microcephaly, profound intellectual disability, sparse brittle hair,
DE   aged appearance, short stature, facial dysmorphism, seizures, an
DE   immunoglobulin deficiency, multiple endocrine abnormalities,
DE   cerebellar hypoplasia and partial absence of the corpus callosum, in
DE   the absence of cellular photosensitivity and ichthyosis.
DR   MIM; 300953; phenotype.
DR   MedGen; CN231313.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 6, non-photosensitive.
AC   DI-04720
AR   TTD6.
DE   A form of trichothiodystrophy, a disease characterized by sulfur-
DE   deficient brittle hair and multisystem variable abnormalities. The
DE   spectrum of clinical features varies from mild disease with only hair
DE   involvement to severe disease with cutaneous, neurologic and profound
DE   developmental defects. Ichthyosis, intellectual and developmental
DE   disabilities, decreased fertility, abnormal characteristics at birth,
DE   ocular abnormalities, short stature, and infections are common
DE   manifestations. There are both photosensitive and non-photosensitive
DE   forms of the disorder. TTD6 patients do not manifest cutaneous
DE   photosensitivity. Inheritance pattern has been reported to be
DE   autosomal recessive.
DR   MIM; 616943; phenotype.
DR   MedGen; CN236419.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 7, non-photosensitive.
AC   DI-05638
AR   TTD7.
DE   A form of trichothiodystrophy, a disease characterized by sulfur-
DE   deficient brittle hair and multisystem variable abnormalities. The
DE   spectrum of clinical features varies from mild disease with only hair
DE   involvement to severe disease with cutaneous, neurologic and profound
DE   developmental defects. Ichthyosis, intellectual and developmental
DE   disabilities, decreased fertility, abnormal characteristics at birth,
DE   ocular abnormalities, short stature, and infections are common
DE   manifestations. There are both photosensitive and non-photosensitive
DE   forms of the disorder. TTD7 patients do not manifest cutaneous
DE   photosensitivity. They have cysteine- and threonine-deficient hair
DE   with alternating light and dark 'tiger-tail' banding pattern observed
DE   under polarization microscopy. Inheritance pattern is autosomal
DE   recessive.
DR   MIM; 618546; phenotype.
DR   MedGen; CN262195.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 8, non-photosensitive.
AC   DI-06299
AR   TTD8.
DE   A form of trichothiodystrophy, a disease characterized by sulfur-
DE   deficient brittle hair and multisystem variable abnormalities. The
DE   spectrum of clinical features varies from mild disease with only hair
DE   involvement to severe disease with cutaneous, neurologic and profound
DE   developmental defects. Ichthyosis, intellectual and developmental
DE   disabilities, decreased fertility, abnormal characteristics at birth,
DE   ocular abnormalities, short stature, and infections are common
DE   manifestations. There are both photosensitive and non-photosensitive
DE   forms of the disorder. TTD8 is an autosomal recessive, non-
DE   photosensitive form characterized by brittle hair and nails, scaly
DE   skin, accompanied by failure to thrive, microcephaly, and neuromotor
DE   developmental delay.
SY   Trichothiodystrophy 8, nonphotosensitive.
DR   MIM; 619691; phenotype.
DR   MedGen; CN305738.
DR   MeSH; D054463.
//
ID   Trichothiodystrophy 9, non-photosensitive.
AC   DI-06300
AR   TTD9.
DE   A form of trichothiodystrophy, a disease characterized by sulfur-
DE   deficient brittle hair and multisystem variable abnormalities. The
DE   spectrum of clinical features varies from mild disease with only hair
DE   involvement to severe disease with cutaneous, neurologic and profound
DE   developmental defects. Ichthyosis, intellectual and developmental
DE   disabilities, decreased fertility, abnormal characteristics at birth,
DE   ocular abnormalities, short stature, and infections are common
DE   manifestations. There are both photosensitive and non-photosensitive
DE   forms of the disorder. TTD9 is an autosomal recessive, non-
DE   photosensitive form characterized by brittle hair and nails, scaly
DE   skin, accompanied by failure to thrive, microcephaly, and neuromotor
DE   developmental delay.
DR   MIM; 619692; phenotype.
DR   MedGen; CN305739.
DR   MeSH; D054463.
//
ID   Trichotillomania.
AC   DI-02830
AR   TTM.
DE   A neuropsychiatric disorder characterized by chronic, repetitive, or
DE   compulsive hair pulling resulting in noticeable hair loss. Affected
DE   individuals may develop physical complications and often have
DE   overlapping psychological disorders, such as Gilles de la Tourette
DE   syndrome or obsessive-compulsive disorder.
DR   MIM; 613229; phenotype.
DR   MedGen; C0040953.
DR   MedGen; CN035643.
DR   MeSH; D014256.
//
ID   Trigonocephaly 1.
AC   DI-02068
AR   TRIGNO1.
DE   A keel-shaped deformation of the forehead, caused by premature fusion
DE   of the metopic sutures. It results in a triangular shape of the head.
SY   Metopic craniosynostosis.
DR   MIM; 190440; phenotype.
DR   MedGen; C0432122.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Trigonocephaly 2.
AC   DI-03386
AR   TRIGNO2.
DE   A keel-shaped deformation of the forehead, caused by premature fusion
DE   of the metopic sutures. It results in a triangular shape of the head.
SY   Metopic craniosynostosis.
DR   MIM; 614485; phenotype.
DR   MedGen; C3280974.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Trimethylaminuria.
AC   DI-02389
AR   TMAU.
DE   Inborn error of metabolism associated with an offensive body odor and
DE   caused by deficiency of FMO-mediated N-oxidation of amino-
DE   trimethylamine (TMA) derived from foodstuffs. Affected individuals
DE   excrete relatively large amounts of TMA in their urine, sweat, and
DE   breath, and exhibit a fishy body odor characteristic of the malodorous
DE   free amine.
SY   Fish-odor syndrome.
SY   MeSH; D008661.
DR   MIM; 602079; phenotype.
DR   MedGen; C0342739.
//
ID   Triokinase and FMN cyclase deficiency syndrome.
AC   DI-05786
AR   TKFCD.
DE   An autosomal recessive disease characterized by cataracts and
DE   developmental delay that may be associated with cerebellar hypoplasia.
DE   Additional features may include liver dysfunction, microcytic anemia,
DE   and fatal cardiomyopathy with lactic acidosis following a febrile
DE   illness.
DR   MIM; 618805; phenotype.
DR   MedGen; CN263353.
DR   MeSH; D000015.
KW   KW-0898:Cataract.
//
ID   Triosephosphate isomerase deficiency.
AC   DI-02390
AR   TPID.
DE   An autosomal recessive multisystem disorder characterized by
DE   congenital hemolytic anemia, progressive neuromuscular dysfunction,
DE   susceptibility to bacterial infection, and cardiomyopathy.
SY   Hemolytic anemia due to triosephosphate isomerase deficiency.
DR   MIM; 615512; phenotype.
DR   MedGen; C1860808.
DR   MeSH; D000745.
DR   MeSH; D008661.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Triphalangeal thumb with polysyndactyly.
AC   DI-02391
AR   TPTPS.
DE   Autosomal dominant syndrome. It is characterized by a wide spectrum of
DE   pre- and post-axial abnormalities due to altered SHH expression
DE   pattern during limb development.
SY   Triphalangeal thumb-polysyndactyly syndrome.
DR   MIM; 190605; phenotype.
DR   MedGen; C0241397.
//
ID   Tritan color blindness.
AC   DI-02393
AR   CBT.
DE   A disorder of vision characterized by a selective deficiency of blue
DE   spectral sensitivity.
SY   Blue colorblindness.
SY   Tritanopia.
DR   MIM; 190900; phenotype.
DR   MedGen; C0155017.
DR   MeSH; D003117.
//
ID   Tropical calcific pancreatitis.
AC   DI-02394
AR   TCP.
DE   Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely
DE   prevalent in several tropical countries. It can be associated with
DE   fibrocalculous pancreatic diabetes (FCPD) depending on both
DE   environmental and genetic factors. TCP differs from alcoholic
DE   pancreatitis by a much younger age of onset, pancreatic calcification,
DE   a high incidence of insulin dependent but ketosis resistant diabetes
DE   mellitus, and an exceptionally high incidence of pancreatic cancer.
DR   MIM; 608189; phenotype.
DR   MedGen; C1842402.
//
ID   Tuberous sclerosis 1.
AC   DI-01106
AR   TSC1.
DE   An autosomal dominant multi-system disorder that affects especially
DE   the brain, kidneys, heart, and skin. It is characterized by hamartomas
DE   (benign overgrowths predominantly of a cell or tissue type that occurs
DE   normally in the organ) and hamartias (developmental abnormalities of
DE   tissue combination). Clinical manifestations include epilepsy,
DE   learning difficulties, behavioral problems, and skin lesions. Seizures
DE   can be intractable and premature death can occur from a variety of
DE   disease-associated causes.
SY   Bourneville syndrome.
SY   TS.
SY   Tuberous sclerosis.
SY   Tuberous sclerosis complex.
DR   MIM; 191100; phenotype.
DR   MedGen; C0041341.
DR   MedGen; C1854465.
DR   MeSH; D014402.
//
ID   Tuberous sclerosis 2.
AC   DI-02846
AR   TSC2.
DE   An autosomal dominant multi-system disorder that affects especially
DE   the brain, kidneys, heart, and skin. It is characterized by hamartomas
DE   (benign overgrowths predominantly of a cell or tissue type that occurs
DE   normally in the organ) and hamartias (developmental abnormalities of
DE   tissue combination). Clinical manifestations include epilepsy,
DE   learning difficulties, behavioral problems, and skin lesions. Seizures
DE   can be intractable and premature death can occur from a variety of
DE   disease-associated causes.
SY   TS.
SY   Tuberous sclerosis.
SY   Tuberous sclerosis complex.
DR   MIM; 613254; phenotype.
DR   MedGen; C1860707.
DR   MedGen; C2750460.
DR   MeSH; D014402.
//
ID   Tubulointerstitial kidney disease, autosomal dominant, 1.
AC   DI-00493
AR   ADTKD1.
DE   A form of autosomal dominant tubulointerstitial kidney disease, a
DE   genetically heterogeneous disorder characterized by slowly progressive
DE   loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE   or mildly increased albuminuria, lack of severe hypertension during
DE   the early stages, and normal or small kidneys on ultrasound. Renal
DE   histology shows variable abnormalities including interstitial fibrosis
DE   with tubular atrophy, microcystic dilatation of the tubules,
DE   thickening of tubular basement membranes, medullary cysts, and
DE   secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE   glomerular tufting. There is significant variability, as well as
DE   incomplete penetrance.
SY   Familial juvenile hyperuricemic nephropathy 1.
SY   FJHN.
SY   FJHN1.
SY   Glomerulocystic kidney disease with hyperuricemia and isosthenuria.
SY   Gouty nephropathy familial juvenile.
SY   HNFJ1.
SY   MCKD2.
SY   Medullary cystic kidney disease 2.
SY   Nephropathy familial with gout.
DR   MIM; 162000; phenotype.
DR   MedGen; C0268113.
DR   MeSH; D007674.
//
ID   Tubulointerstitial kidney disease, autosomal dominant, 2.
AC   DI-03826
AR   ADTKD2.
DE   A form of autosomal dominant tubulointerstitial kidney disease, a
DE   genetically heterogeneous disorder characterized by slowly progressive
DE   loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE   or mildly increased albuminuria, lack of severe hypertension during
DE   the early stages, and normal or small kidneys on ultrasound. Renal
DE   histology shows variable abnormalities including interstitial fibrosis
DE   with tubular atrophy, microcystic dilatation of the tubules,
DE   thickening of tubular basement membranes, medullary cysts, and
DE   secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE   glomerular tufting. There is significant variability, as well as
DE   incomplete penetrance.
SY   ADMCKD1.
SY   Autosomal dominant medullary cystic kidney disease 1.
SY   MCKD.
SY   MCKD1.
SY   Medullary cystic kidney disease 1.
SY   Medullary polycystic kidneys.
DR   MIM; 174000; phenotype.
DR   MedGen; C1868139.
DR   MeSH; D052177.
//
ID   Tubulointerstitial kidney disease, autosomal dominant, 4.
AC   DI-02783
AR   ADTKD4.
DE   A form of autosomal dominant tubulointerstitial kidney disease, a
DE   genetically heterogeneous disorder characterized by slowly progressive
DE   loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE   or mildly increased albuminuria, lack of severe hypertension during
DE   the early stages, and normal or small kidneys on ultrasound. Renal
DE   histology shows variable abnormalities including interstitial fibrosis
DE   with tubular atrophy, microcystic dilatation of the tubules,
DE   thickening of tubular basement membranes, medullary cysts, and
DE   secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE   glomerular tufting. There is significant variability, as well as
DE   incomplete penetrance.
SY   Early-onset hyperuricemia anemia and progressive kidney failure.
SY   Familial juvenile hyperuricemic nephropathy 2.
SY   HNFJ2.
DR   MIM; 613092; phenotype.
DR   MedGen; C2751310.
DR   MeSH; D007674.
//
ID   Tubulointerstitial kidney disease, autosomal dominant, 5.
AC   DI-04780
AR   ADTKD5.
DE   A form of autosomal dominant tubulointerstitial kidney disease, a
DE   genetically heterogeneous disorder characterized by slowly progressive
DE   loss of kidney function, bland urinary sediment, hyperuricemia, absent
DE   or mildly increased albuminuria, lack of severe hypertension during
DE   the early stages, and normal or small kidneys on ultrasound. Renal
DE   histology shows variable abnormalities including interstitial fibrosis
DE   with tubular atrophy, microcystic dilatation of the tubules,
DE   thickening of tubular basement membranes, medullary cysts, and
DE   secondary glomerulosclerotic or glomerulocystic changes with abnormal
DE   glomerular tufting. There is significant variability, as well as
DE   incomplete penetrance.
SY   Familial juvenile hyperuricemic nephropathy 4.
SY   HNFJ4.
SY   Hyperuricemic nephropathy, familial juvenile, 4.
DR   MIM; 617056; phenotype.
DR   MedGen; CN237813.
DR   MeSH; D007674.
//
ID   Tumor predisposition syndrome 1.
AC   DI-03304
AR   TPDS1.
DE   An autosomal dominant condition characterized by predisposition to
DE   develop a variety of tumors, including benign melanocytic tumors as
DE   well as several malignant tumors, including uveal melanoma, cutaneous
DE   melanoma, malignant mesothelioma on exposure to asbestos, lung
DE   adenocarcinoma and meningioma.
DR   MIM; 614327; phenotype.
DR   MedGen; C3280492.
DR   MeSH; D009386.
//
ID   Tumor predisposition syndrome 2.
AC   DI-06473
AR   TPDS2.
DE   An autosomal recessive condition characterized by predisposition to
DE   develop a variety of tumors or malignancies, including acute myeloid
DE   leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis
DE   and carcinoma, and uveal melanoma.
SY   MANS.
SY   MBD4-associated neoplasia syndrome.
DR   MIM; 619975; phenotype.
DR   MedGen; CN315913.
DR   MeSH; D009386.
//
ID   Tumor predisposition syndrome 3.
AC   DI-04136
AR   TPDS3.
DE   An autosomal dominant disorder characterized by an increased risk for
DE   the development of various types of benign and malignant neoplasms
DE   throughout life, with age-dependent penetrance. Affected individuals
DE   can develop neoplasms involving epithelial, mesenchymal, and neuronal
DE   tissues, as well as lymphoid and myeloid cancers. The disorder is
DE   associated with elongated telomeres.
SY   CMM10.
SY   Glioma 9.
SY   GLM9.
SY   Long telomere syndrome, POT1-related.
SY   Melanoma, cutaneous malignant 10.
DR   MIM; 615848; phenotype.
DR   MedGen; CN189144.
DR   MeSH; D008545.
//
ID   Tumor predisposition syndrome 4.
AC   DI-02882
AR   TPDS4.
DE   A disorder characterized by an increased risk for developing various
DE   types of benign and/or malignant neoplasms that arise at an
DE   accelerated rate and in different organs.
SY   Cancer predisposition syndrome, CHEK2-related.
SY   LFS2.
SY   Li-Fraumeni syndrome 2.
DR   MIM; 609265; phenotype.
DR   MedGen; C1836482.
DR   MeSH; D016864.
//
ID   Tumoral calcinosis, hyperphosphatemic, familial, 1.
AC   DI-00573
AR   HFTC1.
DE   A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE   recessive metabolic disorder that manifests with hyperphosphatemia and
DE   massive calcium deposits in the skin and subcutaneous tissues. Some
DE   patients have recurrent, transient, painful swellings of the long
DE   bones associated with the radiographic findings of periosteal reaction
DE   and cortical hyperostosis and absence of skin involvement.
SY   Cortical hyperostosis with hyperphosphatemia.
SY   Familial tumoral calcinosis with hyperphosphatemia.
SY   HHS.
SY   Hyperostosis-hyperphosphatemia syndrome.
SY   Hyperostosis with hyperphosphatemia.
SY   Lipocalcinogranulomatosis.
SY   Morbus Teutschlaender.
SY   PHPTC.
SY   Teutschlaender disease.
SY   Tumoral calcinosis primary hyperphosphatemic.
DR   MIM; 211900; phenotype.
DR   MedGen; C1876187.
DR   MeSH; D002114.
DR   MeSH; D015576.
DR   MeSH; D054559.
//
ID   Tumoral calcinosis, hyperphosphatemic, familial, 2.
AC   DI-05253
AR   HFTC2.
DE   A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE   recessive metabolic disorder that manifests with hyperphosphatemia and
DE   massive calcium deposits in the skin and subcutaneous tissues. Some
DE   patients have recurrent, transient, painful swellings of the long
DE   bones associated with the radiographic findings of periosteal reaction
DE   and cortical hyperostosis and absence of skin involvement.
DR   MIM; 617993; phenotype.
DR   MedGen; CN248506.
DR   MeSH; D002114.
DR   MeSH; D015576.
DR   MeSH; D054559.
//
ID   Tumoral calcinosis, hyperphosphatemic, familial, 3.
AC   DI-05254
AR   HFTC3.
DE   A form of hyperphosphatemic tumoral calcinosis, a rare autosomal
DE   recessive metabolic disorder that manifests with hyperphosphatemia and
DE   massive calcium deposits in the skin and subcutaneous tissues. Some
DE   patients have recurrent, transient, painful swellings of the long
DE   bones associated with the radiographic findings of periosteal reaction
DE   and cortical hyperostosis and absence of skin involvement.
DR   MIM; 617994; phenotype.
DR   MedGen; CN248507.
DR   MeSH; D002114.
DR   MeSH; D015576.
DR   MeSH; D054559.
//
ID   Tumoral calcinosis, normophosphatemic, familial.
AC   DI-02078
AR   NFTC.
DE   An uncommon, life-threatening disorder characterized by progressive
DE   deposition of calcified masses in cutaneous and subcutaneous tissues.
DE   Serum phosphate levels are normal. Clinical features include painful
DE   calcified ulcerative lesions and massive calcium deposition in the
DE   mid- and lower dermis, severe skin and bone infections, erythematous
DE   papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC
DE   shows a striking resemblance to acquired dystrophic calcinosis, in
DE   which tissue calcification occurs as a consequence of tissue
DE   injury/inflammation.
SY   Tumoral calcinosis with normophosphatemia.
DR   MIM; 610455; phenotype.
DR   MedGen; C1864861.
DR   MeSH; D002114.
//
ID   Turnpenny-Fry syndrome.
AC   DI-05516
AR   TPFS.
DE   A syndrome characterized by facial dysmorphism, intellectual
DE   disability, feeding problems, impaired growth, and a range of brain,
DE   cardiovascular, and skeletal abnormalities. Craniofacial features
DE   include frontal bossing, sparse hair, malar hypoplasia, small
DE   palpebral fissures and oral stoma, and dysplastic ears.
SY   Neurocardioskeletal syndrome.
DR   MIM; 618371; phenotype.
DR   MedGen; CN258267.
DR   MeSH; D000015.
KW   KW-0991:Intellectual disability.
//
ID   Tylosis with esophageal cancer.
AC   DI-03431
AR   TOC.
DE   An autosomal dominant syndrome characterized by diffuse palmoplantar
DE   keratoderma, oral leukokeratosis, and a high lifetime risk of
DE   esophageal cancer.
SY   Keratosis palmaris et plantaris with esophageal cancer.
DR   MIM; 148500; phenotype.
DR   MedGen; C1835664.
DR   MeSH; D015776.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Type 1 diabetes mellitus.
AC   DI-01826
AR   T1D.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent.
SY   IDDM.
DR   MIM; 222100; phenotype.
DR   MedGen; C0011854.
DR   MeSH; D003922.
//
ID   Type 1 diabetes mellitus 10.
AC   DI-02776
AR   T1D10.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 10.
SY   IDDM10.
DR   MIM; 601942; phenotype.
DR   MedGen; C1866040.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 12.
AC   DI-02777
AR   T1D12.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 12.
SY   IDDM12.
SY   Insulin-dependent diabetes mellitus 12.
DR   MIM; 601388; phenotype.
DR   MedGen; C1832392.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 19.
AC   DI-02778
AR   T1D19.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 19.
SY   IDDM19.
DR   MIM; 610155; phenotype.
DR   MedGen; C1857808.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 2.
AC   DI-02788
AR   T1D2.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 2.
SY   IDDM2.
DR   MIM; 125852; phenotype.
DR   MedGen; C1852092.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 20.
AC   DI-02779
AR   T1D20.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 20.
SY   IDDM20.
DR   MIM; 612520; phenotype.
DR   MedGen; C2675866.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 22.
AC   DI-02780
AR   T1D22.
DE   A multifactorial disorder of glucose homeostasis that is characterized
DE   by susceptibility to ketoacidosis in the absence of insulin therapy.
DE   Clinical features are polydipsia, polyphagia and polyuria which result
DE   from hyperglycemia-induced osmotic diuresis and secondary thirst.
DE   These derangements result in long-term complications that affect the
DE   eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, insulin-dependent, 22.
SY   IDDM22.
DR   MIM; 612522; phenotype.
DR   MedGen; C2675864.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 1 diabetes mellitus 5.
AC   DI-05295
AR   T1D5.
DE   A form of diabetes mellitus, a multifactorial disorder of glucose
DE   homeostasis that is characterized by susceptibility to ketoacidosis in
DE   the absence of insulin therapy. Clinical features are polydipsia,
DE   polyphagia and polyuria which result from hyperglycemia-induced
DE   osmotic diuresis and secondary thirst. These derangements result in
DE   long-term complications that affect the eyes, kidneys, nerves, and
DE   blood vessels.
SY   Diabetes mellitus, insulin-dependent, 5.
SY   IDDM5.
DR   MIM; 600320; phenotype.
DR   MedGen; C1838260.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 2 diabetes mellitus.
AC   DI-02060
AR   T2D.
DE   A multifactorial disorder of glucose homeostasis caused by a lack of
DE   sensitivity to the body's own insulin. Affected individuals usually
DE   have an obese body habitus and manifestations of a metabolic syndrome
DE   characterized by diabetes, insulin resistance, hypertension and
DE   hypertriglyceridemia. The disease results in long-term complications
DE   that affect the eyes, kidneys, nerves, and blood vessels.
SY   Adult-onset diabetes mellitus.
SY   Diabetes mellitus type 2.
SY   Diabetes mellitus type II.
SY   Maturity-onset diabetes.
SY   Noninsulin-dependent diabetes mellitus.
DR   MIM; 125853; phenotype.
DR   MedGen; C0011860.
DR   MedGen; C1852091.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 2 diabetes mellitus 1.
AC   DI-02781
AR   T2D1.
DE   A multifactorial disorder of glucose homeostasis caused by a lack of
DE   sensitivity to the body's own insulin. Affected individuals usually
DE   have an obese body habitus and manifestations of a metabolic syndrome
DE   characterized by diabetes, insulin resistance, hypertension and
DE   hypertriglyceridemia. The disease results in long-term complications
DE   that affect the eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, non-insulin-dependent, 1.
SY   NIDDM1.
DR   MIM; 601283; phenotype.
DR   MedGen; C1832544.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Type 2 diabetes mellitus 5.
AC   DI-04265
AR   T2D5.
DE   A multifactorial disorder of glucose homeostasis caused by a lack of
DE   sensitivity to the body's own insulin. Affected individuals usually
DE   have an obese body habitus and manifestations of a metabolic syndrome
DE   characterized by diabetes, insulin resistance, hypertension and
DE   hypertriglyceridemia. The disease results in long-term complications
DE   that affect the eyes, kidneys, nerves, and blood vessels.
SY   Diabetes mellitus, non-insulin-dependent, 5.
SY   NIDDM5.
DR   MIM; 616087; phenotype.
DR   MedGen; CN221135.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Type IIb congenital disorder of glycosylation.
AC   DI-02399
AR   CDGIIb.
DE   Characterized by marked generalized hypotonia and hypomotility of the
DE   neonate, dysmorphic features, including a prominent occiput, short
DE   palpebral fissures, retrognathia, high arched palate, generalized
DE   edema, and hypoplastic genitalia. Symptoms of the infant included
DE   hepatomegaly, hypoventilation, feeding problems and seizures. The
DE   clinical course was progressive and the infant did not survive more
DE   than a few months.
SY   Glucosidase I deficiency.
DR   MIM; 606056; phenotype.
DR   MedGen; C1853736.
//
ID   Tyrosinemia 1.
AC   DI-01107
AR   TYRSN1.
DE   An inborn error of metabolism characterized by elevations of tyrosine
DE   in the blood and urine, and hepatorenal manifestations. Typical
DE   features include hepatic necrosis, renal tubular injury, episodic
DE   weakness, self-mutilation, and seizures. Renal tubular dysfunction is
DE   associated with phosphate loss and hypophosphataemic rickets.
DE   Progressive liver disease can lead to the development of
DE   hepatocellular carcinoma. Dietary treatment with restriction of
DE   tyrosine and phenylalanine alleviates the rickets, but liver
DE   transplantation has so far been the only definite treatment.
SY   FAH deficiency.
SY   Fumarylacetoacetase deficiency.
SY   Hepatorenal tyrosinemia.
SY   Tyrosinemia type I.
DR   MIM; 276700; phenotype.
DR   MedGen; C0268490.
DR   MeSH; D020176.
//
ID   Tyrosinemia 2.
AC   DI-01108
AR   TYRSN2.
DE   An inborn error of metabolism characterized by elevations of tyrosine
DE   in the blood and urine, and oculocutaneous manifestations. Typical
DE   features include palmoplantar keratosis, painful corneal ulcers, and
DE   intellectual disability.
SY   Keratosis palmoplantaris with corneal dystrophy.
SY   Oculocutaneous tyrosinemia.
SY   Richner-Hanhart syndrome.
SY   TAT deficiency.
SY   Tyrosine aminotransferase deficiency.
SY   Tyrosinemia Oregon type.
SY   Tyrosinemia type II.
SY   Tyrosine transaminase deficiency.
SY   Tyrosinosis oculocutaneous type.
DR   MIM; 276600; phenotype.
DR   MedGen; C0268487.
DR   MeSH; D020176.
KW   KW-0991:Intellectual disability.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Tyrosinemia 3.
AC   DI-01109
AR   TYRSN3.
DE   An inborn error of metabolism characterized by elevations of tyrosine
DE   in the blood and urine, seizures and mild intellectual disability.
SY   4-hydroxyphenylpyruvate dioxygenase deficiency.
SY   4-hydroxyphenylpyruvic acid oxidase deficiency.
SY   Tyrosinemia type III.
DR   MIM; 276710; phenotype.
DR   MedGen; C0268623.
DR   MeSH; D020176.
KW   KW-0991:Intellectual disability.
//
ID   Ubiquitin-positive frontotemporal dementia.
AC   DI-02402
AR   UP-FTD.
DE   Frontotemporal dementia (FTD) is the second most common cause of
DE   dementia in people under the age of 65 years. It is an autosomal
DE   dominant neurodegenerative disease.
SY   Tau-negative frontotemporal dementia linked to chromosome 17.
DR   MIM; 607485; phenotype.
DR   MedGen; C0282513.
DR   MedGen; C1843792.
//
ID   Ullrich congenital muscular dystrophy 1.
AC   DI-01110
AR   UCMD1.
DE   A congenital myopathy characterized by muscle weakness and multiple
DE   joint contractures, generally noted at birth or early infancy. The
DE   clinical course is more severe than in Bethlem myopathy.
SY   LGMDR22.
SY   Muscular dystrophy, limb-girdle, autosomal recessive 22.
SY   Scleroatonic muscular dystrophy.
SY   UCMD.
SY   Ullrich congenital muscular dystrophy.
SY   Ullrich disease.
SY   Ullrich scleroatonic muscular dystrophy.
DR   MIM; 254090; phenotype.
DR   MedGen; C0410179.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
KW   KW-0947:Limb-girdle muscular dystrophy.
//
ID   Ullrich congenital muscular dystrophy 2.
AC   DI-04486
AR   UCMD2.
DE   A form of Ullrich muscular dystrophy, a congenital myopathy
DE   characterized by muscle weakness and multiple joint contractures,
DE   generally noted at birth or early infancy. The clinical course is more
DE   severe than in Bethlem myopathy.
DR   MIM; 616470; phenotype.
DR   MedGen; CN231482.
DR   MeSH; D009136.
KW   KW-0912:Congenital muscular dystrophy.
//
ID   Ulnar-mammary syndrome.
AC   DI-02404
AR   UMS.
DE   Characterized by ulnar ray defects, obesity, hypogenitalism, delayed
DE   puberty, hypoplasia of nipples and apocrine glands.
DR   MIM; 181450; phenotype.
DR   MedGen; C1866994.
//
ID   Uncombable hair syndrome 1.
AC   DI-04895
AR   UHS1.
DE   A form of uncombable hair syndrome, a condition characterized by scalp
DE   hair that is impossible to comb due to the haphazard arrangement of
DE   the hair bundles. A characteristic morphologic feature is a triangular
DE   to reniform to heart shape on cross-sections, and a groove, canal or
DE   flattening along the entire length of the hair. Most individuals are
DE   affected early in childhood and the hair takes on a spun-glass
DE   appearance with the hair becoming dry, curly, glossy, lighter in
DE   color, and progressively uncombable. The hair growth rate can range
DE   from slow to normal, and the condition improves with age. UHS1
DE   inheritance is autosomal dominant.
SY   Chevelure en vadrouille.
SY   Cheveux incoiffables.
SY   Pili trianguli et canaliculi.
SY   Spun glass hair.
SY   UHS.
SY   Uncombable hair syndrome.
SY   Unmanageable hair syndrome.
DR   MIM; 191480; phenotype.
DR   MedGen; C0432347.
DR   MeSH; D006201.
//
ID   Uncombable hair syndrome 2.
AC   DI-04896
AR   UHS2.
DE   A form of uncombable hair syndrome, a condition characterized by scalp
DE   hair that is impossible to comb due to the haphazard arrangement of
DE   the hair bundles. A characteristic morphologic feature is a triangular
DE   to reniform to heart shape on cross-sections, and a groove, canal or
DE   flattening along the entire length of the hair. Most individuals are
DE   affected early in childhood and the hair takes on a spun-glass
DE   appearance with the hair becoming dry, curly, glossy, lighter in
DE   color, and progressively uncombable. The hair growth rate can range
DE   from slow to normal, and the condition improves with age.
DR   MIM; 617251; phenotype.
DR   MedGen; CN239934.
DR   MeSH; D006201.
//
ID   Uncombable hair syndrome 3.
AC   DI-04897
AR   UHS3.
DE   A form of uncombable hair syndrome, a condition characterized by scalp
DE   hair that is impossible to comb due to the haphazard arrangement of
DE   the hair bundles. A characteristic morphologic feature is a triangular
DE   to reniform to heart shape on cross-sections, and a groove, canal or
DE   flattening along the entire length of the hair. Most individuals are
DE   affected early in childhood and the hair takes on a spun-glass
DE   appearance with the hair becoming dry, curly, glossy, lighter in
DE   color, and progressively uncombable. The hair growth rate can range
DE   from slow to normal, and the condition improves with age.
DR   MIM; 617252; phenotype.
DR   MedGen; CN239938.
DR   MeSH; D006201.
//
ID   Urban-Rifkin-Davis syndrome.
AC   DI-02872
AR   URDS.
DE   A syndrome characterized by disrupted pulmonary, gastrointestinal,
DE   urinary, musculoskeletal, craniofacial and dermal development.
DE   Clinical features include cutis laxa, mild cardiovascular lesions,
DE   respiratory distress with cystic and atelectatic changes in the lungs,
DE   and diverticulosis, tortuosity and stenosis at various levels of the
DE   intestinal tract. Craniofacial features include microretrognathia,
DE   flat midface, receding forehead and wide fontanelles.
SY   Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities.
DR   MIM; 613177; phenotype.
DR   MedGen; C2750804.
DR   MeSH; D003483.
//
ID   Uric acid nephrolithiasis.
AC   DI-02839
AR   UAN.
DE   A form of nephrolithiasis, a common multifactorial disease
DE   characterized by stones formation in the kidney and urinary tract.
DE   Nephrolithiasis is due to supersaturation of the urine by stone-
DE   forming constituents, including calcium, oxalate and uric acid.
DE   Crystals or foreign bodies can act as nidi, upon which ions from the
DE   supersaturated urine form microscopic crystalline structures. Uric
DE   acid nephrolithiasis occurs when the urine becomes overly concentrated
DE   with uric acid and accounts for 20% of all stones.
SY   Uric acid urolithiasis.
DR   MIM; 605990; phenotype.
DR   MedGen; C2700426.
DR   MeSH; D053040.
//
ID   Uridine-cytidineuria.
AC   DI-05596
AR   URCTU.
DE   An autosomal recessive inborn error of metabolism characterized by
DE   increased urinary uridine and cytidine excretion. It is a likely
DE   benign metabolic trait without clinical manifestations.
DR   MIM; 618477; phenotype.
DR   MedGen; CN260064.
DR   MeSH; D011686.
//
ID   Urocanase deficiency.
AC   DI-02405
AR   UROCD.
DE   An inborn error of histidine metabolism resulting in urocanic aciduria
DE   and neurological manifestations including intellectual disability,
DE   ataxia, episodic aggressive behavior or exaggerated affection-seeking.
SY   Encephalopathy due to urocanase deficiency.
DR   MIM; 276880; phenotype.
DR   MedGen; C0268514.
DR   MeSH; D000592.
//
ID   Urofacial syndrome 1.
AC   DI-02762
AR   UFS1.
DE   A rare autosomal recessive disorder characterized by facial grimacing
DE   when attempting to smile and failure of the urinary bladder to void
DE   completely despite a lack of anatomical bladder outflow obstruction or
DE   overt neurological damage. Affected individuals often have reflux of
DE   infected urine from the bladder to the upper renal tract, with a risk
DE   of kidney damage and renal failure.
SY   Hydronephrosis with peculiar facial expression.
SY   Inverted smile and occult neuropathic bladder.
SY   Ochoa syndrome.
SY   Partial facial palsy partial with urinary abnormalities.
SY   UFS.
SY   Urofacial syndrome.
DR   MIM; 236730; phenotype.
DR   MedGen; C0403555.
DR   MeSH; D014570.
DR   MeSH; D019066.
//
ID   Urofacial syndrome 2.
AC   DI-03706
AR   UFS2.
DE   A rare autosomal recessive disorder characterized by facial grimacing
DE   when attempting to smile and failure of the urinary bladder to void
DE   completely despite a lack of anatomical bladder outflow obstruction or
DE   overt neurological damage. Affected individuals often have reflux of
DE   infected urine from the bladder to the upper renal tract, with a risk
DE   of kidney damage and renal failure.
DR   MIM; 615112; phenotype.
DR   MedGen; C3554520.
DR   MedGen; CN168069.
DR   MeSH; D014570.
DR   MeSH; D019066.
//
ID   Uruguay faciocardiomusculoskeletal syndrome.
AC   DI-05127
AR   FCMSU.
DE   An X-linked recessive syndrome characterized by brachyturricephaly,
DE   pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular
DE   hypertrophy, broad hands, wide feet with progressive pes cavus
DE   deformities, dislocation of toes, variable congenital hip dislocation,
DE   and scoliosis.
SY   Faciocardiomusculoskeletal syndrome, Uruguay type.
SY   FCMS.
DR   MIM; 300280; phenotype.
DR   MedGen; C1846010.
DR   MeSH; D009140.
DR   MeSH; D009202.
//
ID   Usher syndrome 1B.
AC   DI-01112
AR   USH1B.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Usher's syndrome type 1B.
SY   Usher syndrome type Ib.
SY   Usher syndrome type IB.
SY   USHIb.
DR   MIM; 276900; phenotype.
DR   MedGen; C1568247.
DR   MedGen; C1848638.
DR   MedGen; C1848639.
DR   MedGen; C1848640.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1C.
AC   DI-01113
AR   USH1C.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Acadian Usher syndrome.
SY   Usher's syndrome type 1C.
SY   Usher syndrome type I Acadian variety.
SY   Usher syndrome type IC.
DR   MIM; 276904; phenotype.
DR   MedGen; C1848604.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1D.
AC   DI-01114
AR   USH1D.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Usher's syndrome type 1D.
SY   Usher syndrome type ID.
DR   MIM; 601067; phenotype.
DR   MedGen; C1832845.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1D/F.
AC   DI-01115
AR   USH1DF.
DE   A digenic recessive form of Usher syndrome, a genetically
DE   heterogeneous condition characterized by the association of retinitis
DE   pigmentosa with sensorineural deafness. Age at onset and differences
DE   in auditory and vestibular function distinguish Usher syndrome type 1
DE   (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
DE   USH1 is characterized by profound congenital sensorineural deafness,
DE   absent vestibular function and prepubertal onset of progressive
DE   retinitis pigmentosa leading to blindness.
SY   USH1D/F.
SY   Usher's syndrome type 1H.
SY   Usher syndrome 1H.
SY   Usher syndrome type IH.
DR   MIM; 601067; phenotype.
DR   MedGen; C3152102.
DR   MedGen; C3275872.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1F.
AC   DI-01116
AR   USH1F.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Usher's syndrome type 1F.
SY   Usher syndrome type IF.
DR   MIM; 602083; phenotype.
DR   MedGen; C1865885.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1G.
AC   DI-01117
AR   USH1G.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Usher's syndrome type 1G.
SY   Usher syndrome type IG.
DR   MIM; 606943; phenotype.
DR   MedGen; C1847089.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1J.
AC   DI-03552
AR   USH1J.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH1 is characterized by profound
DE   congenital sensorineural deafness, absent vestibular function and
DE   prepubertal onset of progressive retinitis pigmentosa leading to
DE   blindness.
SY   Usher's syndrome type 1J.
SY   Usher syndrome type IJ.
DR   MIM; 614869; phenotype.
DR   MedGen; C3553944.
DR   MedGen; CN158799.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 1M.
AC   DI-05680
AR   USH1M.
DE   A form of Usher syndrome, a genetically heterogeneous condition
DE   characterized by the association of retinitis pigmentosa with
DE   sensorineural deafness. Age at onset and differences in auditory and
DE   vestibular function distinguish Usher syndrome type 1 (USH1), Usher
DE   syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an
DE   autosomal recessive disease characterized by prelingual sensorineural
DE   hearing loss, vestibular dysfunction, night blindness, and progressive
DE   impairment of vision.
DR   MIM; 618632; phenotype.
DR   MedGen; CN262443.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 2A.
AC   DI-01118
AR   USH2A.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH2 is characterized by congenital
DE   mild hearing impairment with normal vestibular responses.
SY   Usher's syndrome type 2A.
SY   Usher syndrome type IIa.
SY   Usher syndrome type IIA.
SY   USHIIa.
DR   MIM; 276901; phenotype.
DR   MedGen; C1848634.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 2C.
AC   DI-01119
AR   USH2C.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH2 is characterized by congenital
DE   mild hearing impairment with normal vestibular responses.
SY   Usher's syndrome type 2C.
SY   Usher syndrome type IIC.
SY   Usher syndrome type IIC GPR98/PDZD7 digenic.
DR   MIM; 605472; phenotype.
DR   MedGen; C1854237.
DR   MedGen; C2676439.
DR   MedGen; C2931213.
DR   MedGen; C3148929.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 2D.
AC   DI-02406
AR   USH2D.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa and sensorineural deafness. Age at
DE   onset and differences in auditory and vestibular function distinguish
DE   Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher
DE   syndrome type 3 (USH3). USH2 is characterized by congenital mild
DE   hearing impairment with normal vestibular responses.
DR   MIM; 611383; phenotype.
DR   MedGen; C1568249.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 3A.
AC   DI-01120
AR   USH3A.
DE   USH is a genetically heterogeneous condition characterized by the
DE   association of retinitis pigmentosa with sensorineural deafness. Age
DE   at onset and differences in auditory and vestibular function
DE   distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2)
DE   and Usher syndrome type 3 (USH3). USH3 is characterized by
DE   postlingual, progressive hearing loss, variable vestibular
DE   dysfunction, and onset of retinitis pigmentosa symptoms, including
DE   nyctalopia, constriction of the visual fields, and loss of central
DE   visual acuity, usually by the second decade of life.
SY   USH3.
SY   Usher's syndrome type 3.
SY   Usher syndrome III.
SY   Usher syndrome type 3.
SY   Usher syndrome type III.
DR   MIM; 276902; phenotype.
DR   MedGen; C1568248.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 3B.
AC   DI-03383
AR   USH3B.
DE   A syndrome characterized by progressive vision and hearing loss during
DE   early childhood. Some patients have the so-called 'Charles Bonnet
DE   syndrome,' involving decreased visual acuity and vivid visual
DE   hallucinations. USH is a genetically heterogeneous condition
DE   characterized by the association of retinitis pigmentosa with
DE   sensorineural deafness. Age at onset and differences in auditory and
DE   vestibular function distinguish Usher syndrome type 1 (USH1), Usher
DE   syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is
DE   characterized by postlingual, progressive hearing loss, variable
DE   vestibular dysfunction, and onset of retinitis pigmentosa symptoms,
DE   including nyctalopia, constriction of the visual fields, and loss of
DE   central visual acuity, usually by the second decade of life.
DR   MIM; 614504; phenotype.
DR   MedGen; C3281066.
DR   MedGen; CN121957.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usher syndrome 4.
AC   DI-05348
AR   USH4.
DE   A form of Usher syndrome, a genetically heterogeneous condition
DE   characterized by the association of retinitis pigmentosa with
DE   sensorineural deafness. Age at onset and differences in auditory and
DE   vestibular function distinguish different types of Usher syndrome.
DE   USH4 is characterized by late onset of retinitis pigmentosa and
DE   usually late-onset of progressive sensorineural hearing loss without
DE   vestibular involvement. USH4 inheritance is autosomal recessive.
SY   Usher syndrome, type IV.
DR   MIM; 618144; phenotype.
DR   MedGen; CN257730.
DR   MeSH; D052245.
KW   KW-0682:Retinitis pigmentosa.
KW   KW-0836:Usher syndrome.
//
ID   Usmani-Riazuddin syndrome, autosomal dominant.
AC   DI-06259
AR   USRISD.
DE   A neurodevelopmental disorder characterized by global developmental
DE   delay with impaired intellectual development and speech delay,
DE   hypotonia, and behavioral abnormalities. More variable additional
DE   features may include seizures and distal limb anomalies.
DR   MIM; 619467; phenotype.
DR   MedGen; CN300604.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Usmani-Riazuddin syndrome, autosomal recessive.
AC   DI-06260
AR   USRISR.
DE   A neurodevelopmental disorder characterized by global developmental
DE   delay with impaired intellectual development and speech delay,
DE   hypotonia, spasticity, and behavioral abnormalities. More variable
DE   additional features may include seizures, scoliosis, and joint laxity.
DR   MIM; 619548; phenotype.
DR   MedGen; CN300606.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   UV-sensitive syndrome 1.
AC   DI-02407
AR   UVSS1.
DE   An autosomal recessive disorder characterized by cutaneous
DE   photosensitivity and mild freckling in the absence of neurological
DE   abnormalities or skin tumors.
DR   MIM; 600630; phenotype.
DR   MedGen; C1833561.
DR   MedGen; C3551173.
DR   MeSH; D052245.
//
ID   UV-sensitive syndrome 2.
AC   DI-03443
AR   UVSS2.
DE   An autosomal recessive disorder characterized by cutaneous
DE   photosensitivity and mild freckling in the absence of neurological
DE   abnormalities or skin tumors.
DR   MIM; 614621; phenotype.
DR   MedGen; C3553298.
DR   MedGen; CN124929.
DR   MeSH; D052245.
//
ID   UV-sensitive syndrome 3.
AC   DI-03444
AR   UVSS3.
DE   An autosomal recessive disorder characterized by cutaneous
DE   photosensitivity and slight dyspigmentation, without an increased risk
DE   of skin tumors.
DR   MIM; 614640; phenotype.
DR   MedGen; C3553328.
DR   MedGen; CN124930.
DR   MeSH; D052245.
//
ID   VACTERL association.
AC   DI-02577
AR   VACTERL.
DE   VACTERL is an acronym for vertebral anomalies, anal atresia,
DE   congenital cardiac disease, tracheoesophageal fistula, renal
DE   anomalies, radial dysplasia, and other limb defects.
DR   MIM; 192350; phenotype.
DR   MedGen; C0220708.
DR   MedGen; C1735591.
//
ID   VACTERL association with hydrocephalus.
AC   DI-02408
AR   VACTERL-H.
DE   VACTERL is an acronym for vertebral anomalies, anal atresia,
DE   congenital cardiac disease, tracheoesophageal fistula, renal
DE   anomalies, radial dysplasia, and other limb defects.
DR   MIM; 276950; phenotype.
DR   MedGen; C1848599.
DR   MedGen; C1848600.
DR   MedGen; C2749240.
//
ID   VACTERL association X-linked with or without hydrocephalus.
AC   DI-02462
AR   VACTERLX.
DE   A syndrome characterized by a non-random association of congenital
DE   defects. Affected individuals manifest vertebral anomalies (V), anal
DE   atresia (A), cardiac malformations (C), tracheoesophageal fistula
DE   (TE), renal anomalies (R) such as urethral atresia with
DE   hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral
DE   hypoplasia, radial aplasia, and proximally placed thumb. Some patients
DE   may have hydrocephalus. Some cases of VACTERL-H are associated with
DE   increased chromosome breakage and rearrangement.
SY   VACTERL syndrome.
SY   Vertebral anal tracheoesophageal esophageal radial anomalies.
SY   X-linked VACTERL-H.
DR   MIM; 314390; phenotype.
DR   MedGen; C1839115.
DR   MedGen; C2931228.
DR   MeSH; D000015.
//
ID   Van Buchem disease.
AC   DI-01121
AR   VBCH.
DE   VBCH is an autosomal recessive sclerosing bone dysplasia characterized
DE   by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and
DE   diaphyses of the long bones. Affected patients present a symmetrically
DE   increased thickness of bones, most frequently found as an enlarged
DE   jawbone, but also an enlargement of the skull, ribs, diaphysis of long
DE   bones, as well as tubular bones of hands and feet. The clinical
DE   consequence of increased thickness of the skull include facial nerve
DE   palsy causing hearing loss, visual problems, neurological pain, and,
DE   very rarely, blindness as a consequence of optic atrophy. Serum
DE   alkaline phosphatase levels are elevated.
SY   Endosteal hyperostosis autosomal recessive.
SY   Hyperostosis corticalis generalisata.
SY   Hyperphosphatasemia tarda.
DR   MIM; 239100; phenotype.
DR   MedGen; C0432272.
DR   MeSH; D010009.
//
ID   Van Buchem disease 2.
AC   DI-01122
AR   VBCH2.
DE   VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized
DE   by cranial osteosclerosis, thickened calvaria and cortices of long
DE   bones, enlarged mandible and normal serum alkaline phosphatase levels.
DR   MIM; 607636; phenotype.
DR   MedGen; C1843323.
DR   MeSH; D010009.
//
ID   Van den Ende-Gupta syndrome.
AC   DI-03057
AR   VDEGS.
DE   A syndrome characterized by craniofacial and skeletal abnormalities
DE   that include blepharophimosis, a flat and wide nasal bridge, narrow
DE   and beaked nose, hypoplastic maxilla with or without cleft palate and
DE   everted lower lip, prominent ears, down-slanting eyes, arachnodactyly,
DE   and camptodactyly. Patients present congenital joint contractures that
DE   improve without intervention, and normal growth and development.
DE   Intelligence is normal. Rarely, enlarged cerebella can be present.
DE   Some patients experience respiratory problems due to laryngeal
DE   abnormalities.
SY   Blepharophimosis arachnodactyly and congenital contractures.
SY   Marden-Walker-like syndrome without psychomotor retardation.
DR   MIM; 600920; phenotype.
DR   MedGen; C1833136.
DR   MeSH; D003286.
DR   MeSH; D016569.
DR   MeSH; D054119.
//
ID   Van der Woude syndrome 1.
AC   DI-01123
AR   VWS1.
DE   An autosomal dominant developmental disorder characterized by lower
DE   lip pits, cleft lip and/or cleft palate.
SY   Cleft lip and/or palate with mucous cysts of lower lip.
SY   Lip-pit syndrome.
SY   LPS.
SY   PIT.
SY   VDWS.
DR   MIM; 119300; phenotype.
DR   MedGen; C0175697.
DR   MeSH; D002971.
DR   MeSH; D002972.
//
ID   Van der Woude syndrome 2.
AC   DI-03278
AR   VWS2.
DE   An autosomal dominant developmental disorder characterized by lower
DE   lip pits, cleft lip and/or cleft palate.
DR   MIM; 606713; phenotype.
DR   MedGen; C1847604.
DR   MeSH; D002971.
DR   MeSH; D002972.
//
ID   Van Esch-O'Driscoll syndrome.
AC   DI-05626
AR   VEODS.
DE   An X-linked recessive syndrome characterized by different degrees of
DE   intellectual disability, moderate to severe short stature,
DE   microcephaly, hypogonadism, and variable congenital malformations.
SY   MRXSVEOD.
DR   MIM; 301030; phenotype.
DR   MedGen; CN262177.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Van Maldergem syndrome 1.
AC   DI-03982
AR   VMLDS1.
DE   An autosomal recessive disorder characterized by intellectual
DE   disability, typical craniofacial features, auditory malformations
DE   resulting in hearing loss, and skeletal and limb malformations. Some
DE   patients have renal hypoplasia. Brain MRI typically shows
DE   periventricular nodular heterotopia.
SY   Cerebrofacioarticular syndrome.
SY   Cerebro-facio-articular syndrome.
DR   MIM; 601390; phenotype.
DR   MedGen; C1832390.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Van Maldergem syndrome 2.
AC   DI-03983
AR   VMLDS2.
DE   An autosomal recessive disorder characterized by intellectual
DE   disability, typical craniofacial features, auditory malformations
DE   resulting in hearing loss, and skeletal and limb malformations. Some
DE   patients have renal hypoplasia. Brain MRI typically shows
DE   periventricular nodular heterotopia.
DR   MIM; 615546; phenotype.
DR   MedGen; C3809875.
DR   MedGen; CN182241.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0991:Intellectual disability.
//
ID   Variegate porphyria.
AC   DI-00928
AR   VP.
DE   A form of porphyria. Porphyrias are inherited defects in the
DE   biosynthesis of heme, resulting in the accumulation and increased
DE   excretion of porphyrins or porphyrin precursors. They are classified
DE   as erythropoietic or hepatic, depending on whether the enzyme
DE   deficiency occurs in red blood cells or in the liver. Variegate
DE   porphyria is an acute hepatic form characterized by partial reduction
DE   of protoporphyrinogen oxidase activity, increased photosensitivity,
DE   skin blistering and scarring of sun-exposed areas, skin
DE   hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High
DE   fecal levels of protoporphyrin and coproporphyrin, increased urine
DE   uroporphyrins and iron overload are typical markers of the disease.
DE   Inheritance is autosomal dominant with incomplete penetrance.
SY   Porphyria South African type.
SY   Porphyria variegata.
SY   PPOX deficiency.
SY   Protoporphyrinogen oxidase deficiency.
SY   PV.
DR   MIM; 176200; phenotype.
DR   MedGen; C0162532.
DR   MeSH; D046350.
//
ID   Variegate porphyria, childhood-onset.
AC   DI-06749
AR   VPCO.
DE   An autosomal recessive form of variegate porphyria, a disorder of heme
DE   biosynthesis that results from diminished activity of
DE   protoporphyrinogen oxidase. VPCO is characterized by severe
DE   protoporphyrinogen oxidase deficiency, onset of photosensitization by
DE   porphyrins in early childhood, skin scarring and hyperpigmentation,
DE   and skeletal abnormalities of the hand. Additional variable features
DE   are short stature, impaired intellectual development, and seizures.
DE   VPCO patients rarely experience acute neuropsychiatric or abdominal
DE   attacks.
SY   Variegate porphyria, homozygous variant.
DR   MIM; 620483; phenotype.
DR   MedGen; C3149848.
DR   MedGen; CN372717.
DR   MeSH; D046350.
//
ID   Vascular malformation, primary intraosseous.
AC   DI-04828
AR   VMPI.
DE   An autosomal recessive, rare malformation characterized by non-
DE   neoplastic severe expansions of blood vessels, usually seen in the
DE   vertebral column and in the skull. The most commonly affected bones in
DE   the skull are the mandible and the maxilla, and life-threatening
DE   bleeding after a simple tooth extraction is frequently observed.
SY   Hemangioma, intraosseous.
SY   Vascular malformation osseous.
SY   VMOS.
DR   MIM; 606893; phenotype.
DR   MedGen; C1847197.
DR   MeSH; D054079.
//
ID   Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.
AC   DI-04055
AR   VAIHS.
DE   An autosomal recessive, systemic necrotizing vasculitis that affects
DE   medium and small arteries. The ensuing tissue ischemia can affect any
DE   organ, including the skin, musculoskeletal system, kidneys,
DE   gastrointestinal tract, and the cardiovascular and nervous systems.
DE   Organ involvement and disease severity are highly variable. Clinical
DE   features include recurrent ischemic stroke affecting the small vessels
DE   of the brain and resulting in neurologic dysfunction, recurrent fever,
DE   myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
SY   ADA2 deficiency.
SY   PAN.
SY   Periarteritis nodosa.
SY   Polyarteritis nodosa.
DR   MIM; 615688; phenotype.
DR   MedGen; C0031036.
DR   MeSH; D010488.
//
ID   Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations.
AC   DI-00261
AR   RVCLS.
DE   An adult-onset, autosomal dominant endotheliopathy affecting the
DE   microvessels of the brain. It results in central nervous system
DE   degeneration and retinopathy, with progressive loss of vision, stroke,
DE   motor impairment, and cognitive decline. The ocular manifestations are
DE   characterized by telangiectasias, microaneurysms and retinal capillary
DE   obliteration starting in the macula. Diseased cerebral white matter
DE   has prominent small infarcts that often coalesce to pseudotumors. A
DE   subset of patients have systemic vascular involvement that can
DE   manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular
DE   dysfunction.
SY   Cerebroretinal vasculopathy.
SY   CRV.
SY   Hereditary endotheliopathy with retinopathy-nephropathy-stroke.
SY   HERNS.
SY   Vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena.
DR   MIM; 192315; phenotype.
DR   MedGen; C1860518.
DR   MeSH; D002561.
DR   MeSH; D012164.
KW   KW-0523:Neurodegeneration.
//
ID   Velocardiofacial syndrome.
AC   DI-02410
AR   VCFS.
DE   A syndrome characterized by abnormal pharyngeal arch development that
DE   results in defective development of the parathyroid glands, thymus,
DE   and conotruncal region of the heart. The phenotype is highly variable,
DE   with no single clinical feature present in every patient. Affected
DE   individuals may present with structural or functional palatal
DE   abnormalities, cardiac defects, unique facial characteristics,
DE   hypernasal speech, hypotonia, and defective thymic development
DE   associated with impaired immune function. In addition, affected
DE   individuals may present with learning disabilities, overt
DE   developmental delay, and psychiatric disorders.
SY   Chromosome 22q11.2 deletion syndrome.
SY   Shprintzen VCF syndrome.
SY   VCF syndrome.
SY   Velo-cardio-facial syndrome.
DR   MIM; 192430; phenotype.
DR   MedGen; C0220704.
DR   MeSH; D004062.
//
ID   Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.
AC   DI-06122
AR   VACRDS.
DE   An autosomal dominant arrhythmogenic disorder characterized by
DE   syncope, cardiac arrest and/or sudden unexpected death, often in
DE   association with physical exertion or acute emotional stress. Patients
DE   who survive manifest polymorphic ventricular tachycardia and
DE   ventricular fibrillation. Unlike typical catecholaminergic ventricular
DE   tachycardia, arrhythmias are not reproducible on exercise stress
DE   testing or adrenaline challenge.
SY   RYR2 calcium release deficiency syndrome.
DR   MIM; 115000; phenotype.
DR   MedGen; C0003811.
DR   MeSH; D017180.
//
ID   Ventricular septal defect 1.
AC   DI-03329
AR   VSD1.
DE   A common form of congenital cardiovascular anomaly that may occur
DE   alone or in combination with other cardiac malformations. It can
DE   affect any portion of the ventricular septum, resulting in abnormal
DE   communications between the two lower chambers of the heart.
DE   Classification is based on location of the communication, such as
DE   perimembranous, inlet, outlet (infundibular), central muscular,
DE   marginal muscular, or apical muscular defect. Large defects that go
DE   unrepaired may give rise to cardiac enlargement, congestive heart
DE   failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE   brain development, arrhythmias, and even sudden cardiac death.
DR   MIM; 614429; phenotype.
DR   MedGen; C3280777.
DR   MeSH; D006345.
//
ID   Ventricular septal defect 2.
AC   DI-03330
AR   VSD2.
DE   A common form of congenital cardiovascular anomaly that may occur
DE   alone or in combination with other cardiac malformations. It can
DE   affect any portion of the ventricular septum, resulting in abnormal
DE   communications between the two lower chambers of the heart.
DE   Classification is based on location of the communication, such as
DE   perimembranous, inlet, outlet (infundibular), central muscular,
DE   marginal muscular, or apical muscular defect. Large defects that go
DE   unrepaired may give rise to cardiac enlargement, congestive heart
DE   failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE   brain development, arrhythmias, and even sudden cardiac death.
DR   MIM; 614431; phenotype.
DR   MedGen; C3280783.
DR   MeSH; D006345.
//
ID   Ventricular septal defect 3.
AC   DI-03331
AR   VSD3.
DE   A common form of congenital cardiovascular anomaly that may occur
DE   alone or in combination with other cardiac malformations. It can
DE   affect any portion of the ventricular septum, resulting in abnormal
DE   communications between the two lower chambers of the heart.
DE   Classification is based on location of the communication, such as
DE   perimembranous, inlet, outlet (infundibular), central muscular,
DE   marginal muscular, or apical muscular defect. Large defects that go
DE   unrepaired may give rise to cardiac enlargement, congestive heart
DE   failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal
DE   brain development, arrhythmias, and even sudden cardiac death.
DR   MIM; 614432; phenotype.
DR   MedGen; C3280785.
DR   MeSH; D006345.
//
ID   Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy.
AC   DI-00249
AR   CPVT1.
DE   An arrhythmogenic disorder characterized by stress-induced,
DE   bidirectional ventricular tachycardia that may degenerate into cardiac
DE   arrest and cause sudden death. Patients present with recurrent
DE   syncope, seizures, or sudden death after physical activity or
DE   emotional stress. CPVT1 inheritance is autosomal dominant.
SY   Bidirectional tachycardia.
SY   Double tachycardia induced by catecholamines.
SY   Malignant paroxysmal ventricular tachycardia.
SY   Multifocal ventricular premature beats.
SY   Paroxysmal ventricular fibrillation.
SY   Stress-induced polymorphic ventricular tachycardia.
SY   Syncopal paroxysmal tachycardia.
SY   Syncopal tachyarythmia.
SY   Ventricular tachycardia catecholaminergic polymorphic 1.
SY   VTSIP.
DR   MIM; 604772; phenotype.
DR   MedGen; C1631597.
DR   MeSH; D017180.
//
ID   Ventricular tachycardia, catecholaminergic polymorphic, 2.
AC   DI-00250
AR   CPVT2.
DE   An arrhythmogenic disorder characterized by stress-induced,
DE   bidirectional ventricular tachycardia that may degenerate into cardiac
DE   arrest and cause sudden death. Patients present with recurrent
DE   syncope, seizures, or sudden death after physical activity or
DE   emotional stress. CPVT2 inheritance is autosomal recessive.
SY   Bidirectional tachycardia.
SY   Double tachycardia induced by catecholamines.
SY   Malignant paroxysmal ventricular tachycardia.
SY   Multifocal ventricular premature beats.
SY   Paroxysmal ventricular fibrillation.
SY   Stress-induced polymorphic ventricular tachycardia.
SY   Syncopal paroxysmal tachycardia.
SY   Syncopal tachyarythmia.
SY   VTSIP.
DR   MIM; 611938; phenotype.
DR   MedGen; C2677794.
DR   MeSH; D017180.
//
ID   Ventricular tachycardia, catecholaminergic polymorphic, 3.
AC   DI-04918
AR   CPVT3.
DE   An arrhythmogenic disorder characterized by stress-induced,
DE   bidirectional ventricular tachycardia that may degenerate into cardiac
DE   arrest and cause sudden death. Patients present with recurrent
DE   syncope, or sudden death after physical activity or emotional stress.
DE   CPVT3 is an autosomal recessive disorder with onset at early age and
DE   associated with sudden death in childhood. Patients manifest QT
DE   prolongation on adrenergic stimulation.
DR   MIM; 614021; phenotype.
DR   MedGen; C3151463.
DR   MeSH; D017180.
//
ID   Ventricular tachycardia, catecholaminergic polymorphic, 4.
AC   DI-03610
AR   CPVT4.
DE   An arrhythmogenic disorder characterized by stress-induced,
DE   bidirectional ventricular tachycardia that may degenerate into cardiac
DE   arrest and cause sudden death. Patients present with recurrent
DE   syncope, seizures, or sudden death after physical activity or
DE   emotional stress. CPVT4 inheritance is autosomal dominant.
SY   Bidirectional tachycardia.
SY   Double tachycardia induced by catecholamines.
SY   Malignant paroxysmal ventricular tachycardia.
SY   Multifocal ventricular premature beats.
SY   Paroxysmal ventricular fibrillation.
SY   Stress-induced polymorphic ventricular tachycardia.
SY   Syncopal paroxysmal tachycardia.
SY   Syncopal tachyarythmia.
SY   VTSIP.
DR   MIM; 614916; phenotype.
DR   MedGen; C3554047.
DR   MedGen; CN160483.
DR   MeSH; D017180.
//
ID   Ventricular tachycardia, catecholaminergic polymorphic, 6.
AC   DI-05767
AR   CPVT6.
DE   An arrhythmogenic disorder characterized by stress-induced,
DE   bidirectional ventricular tachycardia that may degenerate into cardiac
DE   arrest and cause sudden death. Patients present with recurrent
DE   syncope, seizures, or sudden death after physical activity or
DE   emotional stress. CPVT6 inheritance is autosomal dominant.
DR   MIM; 618782; phenotype.
DR   MedGen; CN263316.
DR   MeSH; D017180.
//
ID   Ventriculomegaly and arthrogryposis.
AC   DI-06216
AR   VENARG.
DE   An autosomal recessive disorder with fatal outcome, characterized by
DE   prenatal onset of severe features including limb contractures,
DE   arthrogryposis, and enlarged brain ventricles that may be associated
DE   with hydrocephalus, abnormalities of the corpus callosum, and
DE   cerebellar hypoplasia. Some affected fetuses may also have congenital
DE   heart disease and hydrops fetalis. Death occurs in utero.
DR   MIM; 619501; phenotype.
DR   MedGen; CN300393.
DR   MeSH; D001176.
DR   MeSH; D006849.
//
ID   Ventriculomegaly with cystic kidney disease.
AC   DI-04346
AR   VMCKD.
DE   A severe autosomal recessive developmental disorder manifesting in
DE   utero. It is characterized by cerebral ventriculomegaly, echogenic
DE   kidneys, microscopic renal tubular cysts and findings of congenital
DE   nephrosis.
DR   MIM; 219730; phenotype.
DR   MedGen; C1857423.
DR   MeSH; D006849.
DR   MeSH; D052177.
//
ID   Verheij syndrome.
AC   DI-03999
AR   VRJS.
DE   A syndrome characterized by growth retardation, delayed psychomotor
DE   development, dysmorphic facial features, and skeletal, mainly
DE   vertebral, abnormalities. Additional variable features may include
DE   coloboma, renal defects, and cardiac defects.
SY   Chromosome 8q24.3 deletion syndrome.
DR   MIM; 615583; phenotype.
DR   MedGen; C3810023.
DR   MedGen; CN183033.
DR   MeSH; D000015.
//
ID   Vertebral anomalies and variable endocrine and T-cell dysfunction.
AC   DI-05435
AR   VETD.
DE   An autosomal dominant syndrome characterized by skeletal malformations
DE   primarily involving the vertebrae, immunodeficiency, endocrine
DE   abnormalities such as hypoparathyroidism and growth hormone
DE   deficiency, craniofacial dysmorphism, congenital cardiac anomalies
DE   consisting of double-outlet right ventricle, pulmonary valve stenosis
DE   and atrial septal defect, and developmental impairments.
DR   MIM; 618223; phenotype.
DR   MedGen; CN257496.
DR   MeSH; D000015.
//
ID   Vertebral hypersegmentation and orofacial anomalies.
AC   DI-05988
AR   VHO.
DE   An autosomal dominant disease characterized by supernumerary ribs,
DE   supernumerary cervical, thoracic and/or lumbar vertebrae, and
DE   orofacial anomalies such as cleft lip with or without cleft palate in
DE   most patients.
DR   MIM; 619122; phenotype.
DR   MedGen; CN293577.
DR   MeSH; D002971.
DR   MeSH; D002972.
DR   MeSH; D013122.
//
ID   Vertebral, cardiac, renal, and limb defects syndrome 1.
AC   DI-05094
AR   VCRL1.
DE   An autosomal recessive congenital malformation syndrome characterized
DE   by vertebral segmentation abnormalities, congenital cardiac defects,
DE   renal defects, and distal mild limb defects.
SY   3-hydroxyanthranilic acidemia.
SY   Congenital NAD deficiency disorder 1.
DR   MIM; 617660; phenotype.
DR   MedGen; CN482173.
DR   MeSH; D000015.
//
ID   Vertebral, cardiac, renal, and limb defects syndrome 2.
AC   DI-05095
AR   VCRL2.
DE   An autosomal recessive congenital malformation syndrome characterized
DE   by vertebral segmentation abnormalities, congenital cardiac defects,
DE   renal defects, and distal mild limb defects.
DR   MIM; 617661; phenotype.
DR   MedGen; CN482174.
DR   MeSH; D000015.
//
ID   Vertebral, cardiac, renal, and limb defects syndrome 3.
AC   DI-05813
AR   VCRL3.
DE   An autosomal recessive, lethal disorder characterized by severe
DE   cardiac and renal anomalies, including hypoplastic or absent left
DE   ventricle, transposition of the great arteries, absent pulmonary
DE   trunk, and hypoplastic or absent kidneys. Patients also exhibit
DE   vertebral segmentation defects and shortening of the proximal long
DE   bones or micromelia. Death occurs in early infancy.
SY   Congenital NAD deficiency disorder.
DR   MIM; 618845; phenotype.
DR   MedGen; CN272929.
DR   MeSH; D000015.
//
ID   Vertebral, cardiac, tracheoesophageal, renal, and limb defects.
AC   DI-06041
AR   VCTRL.
DE   An autosomal dominant disorder with incomplete penetrance and variable
DE   expressivity, characterized by cardiac, vertebral, tracheo-esophageal,
DE   renal and limb defects. Some patients also exhibit craniofacial
DE   abnormalities.
DR   MIM; 619227; phenotype.
DR   MedGen; CN295807.
DR   MeSH; D000015.
//
ID   Vertical talus, congenital.
AC   DI-01422
AR   CVT.
DE   A rare malformation characterized by vertical orientation of the talus
DE   with a rigid dorsal dislocation of the navicular, equinus deformity of
DE   the calcaneus, abduction deformity of the forefoot, and contracture of
DE   the soft tissues of the hind- and mid-foot. This condition is usually
DE   associated with multiple other congenital deformities and only rarely
DE   is an isolated deformity with familial occurrence.
SY   Congenital convex pes valgus.
SY   Rocker-bottom foot deformity.
DR   MIM; 192950; phenotype.
DR   MedGen; C0240912.
DR   MedGen; C1840503.
DR   MeSH; D005532.
//
ID   Ververi-Brady syndrome.
AC   DI-05250
AR   VERBRAS.
DE   An autosomal dominant disorder characterized by mild developmental
DE   delay and intellectual disability, speech delay, learning
DE   difficulties, autistic features, and mild facial dysmorphism.
DR   MIM; 617982; phenotype.
DR   MedGen; CN244927.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   Vesicoureteral reflux 2.
AC   DI-02412
AR   VUR2.
DE   A disease belonging to the group of congenital anomalies of the kidney
DE   and urinary tract. It is characterized by the reflux of urine from the
DE   bladder into the ureters and sometimes into the kidneys, and is a risk
DE   factor for urinary tract infections. Primary disease results from a
DE   developmental defect of the ureterovesical junction. In combination
DE   with intrarenal reflux, the resulting inflammatory reaction may result
DE   in renal injury or scarring, also called reflux nephropathy. Extensive
DE   renal scarring impairs renal function and may predispose patients to
DE   hypertension, proteinuria, renal insufficiency and end-stage renal
DE   disease.
DR   MIM; 610878; phenotype.
DR   MedGen; C1970483.
DR   MeSH; D014718.
//
ID   Vesicoureteral reflux 3.
AC   DI-02977
AR   VUR3.
DE   A disease belonging to the group of congenital anomalies of the kidney
DE   and urinary tract. It is characterized by the reflux of urine from the
DE   bladder into the ureters and sometimes into the kidneys, and is a risk
DE   factor for urinary tract infections. Primary disease results from a
DE   developmental defect of the ureterovesical junction. In combination
DE   with intrarenal reflux, the resulting inflammatory reaction may result
DE   in renal injury or scarring, also called reflux nephropathy. Extensive
DE   renal scarring impairs renal function and may predispose patients to
DE   hypertension, proteinuria, renal insufficiency and end-stage renal
DE   disease.
DR   MIM; 613674; phenotype.
DR   MedGen; C3150927.
DR   MeSH; D014718.
//
ID   Vesicoureteral reflux 8.
AC   DI-04199
AR   VUR8.
DE   A disease belonging to the group of congenital anomalies of the kidney
DE   and urinary tract. It is characterized by the reflux of urine from the
DE   bladder into the ureters and sometimes into the kidneys, and is a risk
DE   factor for urinary tract infections. Primary disease results from a
DE   developmental defect of the ureterovesical junction. In combination
DE   with intrarenal reflux, the resulting inflammatory reaction may result
DE   in renal injury or scarring, also called reflux nephropathy. Extensive
DE   renal scarring impairs renal function and may predispose patients to
DE   hypertension, proteinuria, renal insufficiency and end-stage renal
DE   disease.
DR   MIM; 615963; phenotype.
DR   MedGen; CN218430.
DR   MeSH; D014718.
//
ID   VEXAS syndrome.
AC   DI-05955
AR   VEXAS.
DE   A sporadic, often fatal, treatment-refractory inflammatory syndrome
DE   that develops in late adulthood. Clinical features include fevers,
DE   cytopenias, characteristic vacuoles in myeloid and erythroid precursor
DE   cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary
DE   inflammation, chondritis, and vasculitis. The disease affects only
DE   males and is associated with de novo somatic mutations.
SY   Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.
SY   VEXAS syndrome, somatic.
DR   MIM; 301054; phenotype.
DR   MedGen; CN293453.
DR   MeSH; D007249.
//
ID   Vibratory urticaria.
AC   DI-04656
AR   VBU.
DE   An autosomal dominant disorder characterized by localized hives and
DE   systemic manifestations in response to dermal vibration, with
DE   coincident degranulation of mast cells and increased histamine levels
DE   in serum.
SY   Dermodistortive urticaria.
SY   Vibratory angioedema.
DR   MIM; 125630; phenotype.
DR   MedGen; C1852146.
DR   MeSH; D000799.
//
ID   Vici syndrome.
AC   DI-03646
AR   VICIS.
DE   A rare congenital multisystem disorder characterized by agenesis of
DE   the corpus callosum, cataracts, pigmentary defects, progressive
DE   cardiomyopathy, and variable immunodeficiency. Affected individuals
DE   also have profound psychomotor retardation and hypotonia due to a
DE   myopathy.
SY   Immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum.
DR   MIM; 242840; phenotype.
DR   MedGen; C1855772.
DR   MeSH; D002386.
DR   MeSH; D007153.
DR   MeSH; D061085.
KW   KW-0898:Cataract.
//
ID   Visceral myopathy 1.
AC   DI-04078
AR   VSCM1.
DE   An autosomal dominant form of myopathic pseudo-obstruction
DE   characterized by impaired function of enteric smooth muscle cells,
DE   resulting in abnormal intestinal motility, severe abdominal pain,
DE   malnutrition, and even death. The disease shows inter- and
DE   intrafamilial variability. Most severely affected patients exhibit
DE   prenatal bladder enlargement, intestinal malrotation, neonatal
DE   functional gastrointestinal obstruction, and dependence on total
DE   parenteral nutrition and urinary catheterization.
SY   Berdon syndrome.
SY   Idiopathic intestinal pseudoobstruction.
SY   Infantile visceral myopathy.
SY   Megacystis-microcolon-intestinal hypoperistalsis syndrome.
SY   Megaduodenum and/or megacystis.
SY   MMIH.
DR   MIM; 155310; phenotype.
DR   MedGen; C0266833.
DR   MedGen; C1835084.
DR   MeSH; D007418.
//
ID   Visceral myopathy 2.
AC   DI-06119
AR   VSCM2.
DE   A form of visceral myopathy, a gastrointestinal pseudo-obstruction
DE   disorder characterized by impaired function of enteric smooth muscle
DE   cells, intestinal dysmotility and paresis, severe abdominal pain, and
DE   malnutrition. The disease shows inter- and intrafamilial variability.
DE   VSCM2 inheritance is autosomal dominant.
DR   MIM; 619350; phenotype.
DR   MedGen; CN296893.
DR   MeSH; D007418.
//
ID   Visceral neuropathy, familial, 1, autosomal recessive.
AC   DI-06181
AR   VSCN1.
DE   An autosomal recessive disorder characterized by intestinal
DE   dysmotility due to aganglionosis (Hirschsprung disease),
DE   hypoganglionosis, and/or chronic intestinal pseudoobstruction.
DE   Additional variable features are progressive peripheral neuropathy,
DE   arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the
DE   external auditory canals, microtia or anotia, and facial dysmorphism.
DE   Some patients present structural cardiac anomalies and arthrogryposis
DE   with multiple pterygia.
DR   MIM; 243180; phenotype.
DR   MedGen; C1855733.
DR   MeSH; D007410.
DR   MeSH; D009422.
//
ID   Visceral neuropathy, familial, 2, autosomal recessive.
AC   DI-06182
AR   VSCN2.
DE   An autosomal recessive disorder characterized by intestinal
DE   dysmotility due to aganglionosis (Hirschsprung disease),
DE   hypoganglionosis, and/or chronic intestinal pseudoobstruction.
DE   Patients also show peripheral axonal neuropathy, hypotonia, mild
DE   developmental delay, unilateral ptosis, and sensorineural hearing
DE   loss.
DR   MIM; 619465; phenotype.
DR   MedGen; CN300314.
DR   MeSH; D007410.
DR   MeSH; D009422.
//
ID   VISS syndrome.
AC   DI-06191
AR   VISS.
DE   An autosomal recessive disease characterized by early-onset thoracic
DE   aortic aneurysm, aneurysm and tortuosity of other arteries, motor
DE   developmental delay, connective tissue findings such as joint
DE   hypermobility, skin laxity and hernias, and craniofacial dysmorphic
DE   features. Immune dysregulation has been reported in some patients.
DR   MIM; 619472; phenotype.
DR   MedGen; CN300318.
DR   MeSH; D001014.
DR   MeSH; D002658.
DR   MeSH; D003240.
KW   KW-0993:Aortic aneurysm.
//
ID   Vissers-Bodmer syndrome.
AC   DI-05920
AR   VIBOS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, intellectual disability of varying degree, speech delay, motor
DE   delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle
DE   and soft tissue abnormalities are frequently observed. Many patients
DE   have behavioral problems, including anxiety, obsessive compulsive
DE   disorder, autism spectrum disorder and attention-deficit hyperactivity
DE   disorder.
DR   MIM; 619033; phenotype.
DR   MedGen; CN283412.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
KW   KW-1268:Autism spectrum disorder.
//
ID   Visual impairment and progressive phthisis bulbi.
AC   DI-05463
AR   VIPB.
DE   An autosomal recessive, progressive disease characterized by poor
DE   vision at birth and development of bilateral phthisis bulbi by
DE   adulthood.
DR   MIM; 618283; phenotype.
DR   MedGen; CN258119.
DR   MeSH; D005128.
//
ID   Vitamin D-dependent rickets 3.
AC   DI-05946
AR   VDDR3.
DE   An autosomal dominant disorder of vitamin D metabolism resulting in
DE   early-onset rickets, reduced serum levels of the vitamin D metabolites
DE   25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient
DE   responsiveness to parent and activated forms of vitamin D.
SY   Vitamin D-dependent rickets, type 3.
DR   MIM; 619073; phenotype.
DR   MedGen; CN293406.
DR   MeSH; D012279.
//
ID   Vitiligo.
AC   DI-02735
AR   VTLG.
DE   A pigmentary disorder of the skin and mucous membranes. It is
DE   characterized by circumscribed depigmented macules and patches,
DE   commonly on extensor aspects of extremities, on the face or neck and
DE   in skin folds. Vitiligo is a progressive disorder in which some or all
DE   of the melanocytes in the affected skin are selectively destroyed. It
DE   is a multifactorial disorder with a complex etiology probably
DE   including autoimmune mechanisms, and is associated with an elevated
DE   risk of other autoimmune diseases.
SY   Generalized vitiligo.
DR   MIM; 193200; phenotype.
DR   MedGen; C0042900.
DR   MedGen; C3277701.
DR   MeSH; D014820.
//
ID   Vitiligo-associated multiple autoimmune disease 1.
AC   DI-02736
AR   VAMAS1.
DE   A disorder characterized by the association of vitiligo with several
DE   autoimmune and autoinflammatory diseases including autoimmune thyroid
DE   disease, rheumatoid arthritis and systemic lupus erythematosus.
SY   SLEV1.
SY   Systemic lupus erythematosus vitiligo-related.
DR   MIM; 606579; phenotype.
DR   MedGen; C1847835.
DR   MeSH; D001327.
//
ID   Vitreoretinochoroidopathy.
AC   DI-01125
AR   VRCP.
DE   An autosomal dominant ocular disorder characterized by
DE   vitreoretinochoroidal dystrophy. The clinical presentation is
DE   variable. VRCP may be associated with cataract, nanophthalmos,
DE   microcornea, shallow anterior chamber, and glaucoma.
SY   ADVIRC.
SY   Vitreoretinochoroidopathy, autosomal dominant.
SY   Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma.
SY   Vitreoretinochoroidopathy with microcornea-glaucoma-cataract.
DR   MIM; 193220; phenotype.
DR   MedGen; C1860406.
DR   MedGen; C2674009.
DR   MeSH; D012162.
DR   MeSH; D015862.
//
ID   Vitreoretinopathy with phalangeal epiphyseal dysplasia.
AC   DI-06065
AR   VPED.
DE   An autosomal dominant disorder characterized by rhegmatogenous retinal
DE   detachment, premature arthropathy, and development of phalangeal
DE   epiphyseal dysplasia resulting in brachydactyly.
DR   MIM; 619248; phenotype.
DR   MedGen; C1852989.
DR   MeSH; D001848.
DR   MeSH; D012164.
DR   MeSH; D059327.
//
ID   Vitreoretinopathy, exudative 1.
AC   DI-01126
AR   EVR1.
DE   A disorder of the retinal vasculature characterized by an abrupt
DE   cessation of growth of peripheral capillaries, leading to an avascular
DE   peripheral retina. This may lead to compensatory retinal
DE   neovascularization, which is thought to be induced by hypoxia from the
DE   initial avascular insult. New vessels are prone to leakage and rupture
DE   causing exudates and bleeding, followed by scarring, retinal
DE   detachment and blindness. Clinical features can be highly variable,
DE   even within the same family. Patients with mild forms of the disease
DE   are asymptomatic, and their only disease related abnormality is an arc
DE   of avascular retina in the extreme temporal periphery. In many ways
DE   the disease resembles retinopathy of prematurity but there is no
DE   evidence of prematurity or small birth weight in the patient history.
SY   Autosomal dominant familial exudative vitreoretinopathy.
SY   Criswick-Schepens syndrome.
SY   FEVR.
DR   MIM; 133780; phenotype.
DR   MedGen; C0035344.
DR   MedGen; C1851402.
DR   MeSH; D012178.
//
ID   Vitreoretinopathy, exudative 2.
AC   DI-01127
AR   EVR2.
DE   A disorder of the retinal vasculature characterized by an abrupt
DE   cessation of growth of peripheral capillaries, leading to an avascular
DE   peripheral retina. This may lead to compensatory retinal
DE   neovascularization, which is thought to be induced by hypoxia from the
DE   initial avascular insult. New vessels are prone to leakage and rupture
DE   causing exudates and bleeding, followed by scarring, retinal
DE   detachment and blindness. Clinical features can be highly variable,
DE   even within the same family. Patients with mild forms of the disease
DE   are asymptomatic, and their only disease related abnormality is an arc
DE   of avascular retina in the extreme temporal periphery.
SY   EVRX.
SY   Exudative vitreoretinopathy familial 2.
SY   FEVRX.
SY   FEVR X-linked.
SY   X-linked familial exudative vitreoretinopathy.
DR   MIM; 305390; phenotype.
DR   MedGen; C1844579.
DR   MeSH; D012164.
//
ID   Vitreoretinopathy, exudative 4.
AC   DI-01128
AR   EVR4.
DE   A disorder of the retinal vasculature characterized by an abrupt
DE   cessation of growth of peripheral capillaries, leading to an avascular
DE   peripheral retina. This may lead to compensatory retinal
DE   neovascularization, which is thought to be induced by hypoxia from the
DE   initial avascular insult. New vessels are prone to leakage and rupture
DE   causing exudates and bleeding, followed by scarring, retinal
DE   detachment and blindness. Clinical features can be highly variable,
DE   even within the same family. Patients with mild forms of the disease
DE   are asymptomatic, and their only disease related abnormality is an arc
DE   of avascular retina in the extreme temporal periphery.
DR   MIM; 601813; phenotype.
DR   MedGen; C1866176.
DR   MeSH; D012164.
//
ID   Vitreoretinopathy, exudative 5.
AC   DI-02686
AR   EVR5.
DE   A disorder of the retinal vasculature characterized by an abrupt
DE   cessation of growth of peripheral capillaries, leading to an avascular
DE   peripheral retina. This may lead to compensatory retinal
DE   neovascularization, which is thought to be induced by hypoxia from the
DE   initial avascular insult. New vessels are prone to leakage and rupture
DE   causing exudates and bleeding, followed by scarring, retinal
DE   detachment and blindness. Clinical features can be highly variable,
DE   even within the same family. Patients with mild forms of the disease
DE   are asymptomatic, and their only disease related abnormality is an arc
DE   of avascular retina in the extreme temporal periphery.
DR   MIM; 613310; phenotype.
DR   MedGen; C2750079.
DR   MeSH; D012164.
//
ID   Vitreoretinopathy, exudative 6.
AC   DI-04484
AR   EVR6.
DE   A form of exudative vitreoretinopathy, a disorder of the retinal
DE   vasculature characterized by an abrupt cessation of growth of
DE   peripheral capillaries, leading to an avascular peripheral retina.
DE   This may lead to compensatory retinal neovascularization, which is
DE   thought to be induced by hypoxia from the initial avascular insult.
DE   New vessels are prone to leakage and rupture causing exudates and
DE   bleeding, followed by scarring, retinal detachment and blindness.
DE   Clinical features can be highly variable, even within the same family.
DE   Patients with mild forms of the disease are asymptomatic, and their
DE   only disease related abnormality is an arc of avascular retina in the
DE   extreme temporal periphery.
DR   MIM; 616468; phenotype.
DR   MedGen; CN231687.
DR   MeSH; D012164.
//
ID   Vitreoretinopathy, exudative 7.
AC   DI-05042
AR   EVR7.
DE   A form of exudative vitreoretinopathy, a disorder of the retinal
DE   vasculature characterized by an abrupt cessation of growth of
DE   peripheral capillaries, leading to an avascular peripheral retina.
DE   This may lead to compensatory retinal neovascularization, which is
DE   thought to be induced by hypoxia from the initial avascular insult.
DE   New vessels are prone to leakage and rupture causing exudates and
DE   bleeding, followed by scarring, retinal detachment and blindness.
DE   Clinical features can be highly variable, even within the same family.
DE   Patients with mild forms of the disease are asymptomatic, and their
DE   only disease related abnormality is an arc of avascular retina in the
DE   extreme temporal periphery.
DR   MIM; 617572; phenotype.
DR   MedGen; CN321863.
DR   MeSH; D012164.
//
ID   Vitreoretinopathy, neovascular inflammatory.
AC   DI-03622
AR   VRNI.
DE   An autoimmune condition of the eye that sequentially mimics uveitis,
DE   retinitis pigmentosa, and proliferative diabetic retinopathy as it
DE   progresses to complete blindness. Patients present during the second
DE   or third decade of life with posterior uveitis and reduction of the
DE   electroretinogram b-wave. They become more symptomatic when cataracts,
DE   cystoid macular edema, and disk edema diminish visual acuity during
DE   the second stage. Severe vision loss begins during the third stage
DE   when proliferative retinal neovascularization and epiretinal membranes
DE   appear. There is an ongoing pigmentary retinal degeneration and
DE   peripheral visual field loss during all stages. In the fourth stage,
DE   proliferative vitreoretinopathy causes tractional retinal detachments
DE   at the macula and vitreous base. The fifth or end-stage disease is
DE   marked by phthisis.
SY   ADNIV.
SY   Neovascular inflammatory vitreoretinopathy autosomal dominant.
SY   Proliferative vitreoretinopathy.
SY   PVR.
DR   MIM; 193235; phenotype.
DR   MedGen; C1860404.
DR   MeSH; D018630.
//
ID   Vohwinkel syndrome.
AC   DI-01129
AR   VOWNKL.
DE   An autosomal dominant disease characterized by hyperkeratosis,
DE   constriction on fingers and toes and congenital deafness.
SY   Congenital deafness with keratopachydermia and constrictions of fingers and toes.
SY   Keratoderma hereditarium mutilans.
SY   KHM.
SY   Mutilating keratoderma.
DR   MIM; 124500; phenotype.
DR   MedGen; C0265964.
DR   MeSH; D006319.
DR   MeSH; D007645.
DR   MeSH; D017880.
KW   KW-0209:Deafness.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Vohwinkel syndrome with ichthyosis.
AC   DI-01130
AR   VSI.
DE   A variant form of Vohwinkel syndrome without hearing loss and
DE   associated with ichthyosiform dermatosis. Clinical features include
DE   palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact
DE   hyperkeratosis with round retained nuclei and hypergranulosis is
DE   observed on skin biopsies.
SY   LK.
SY   Loricrin keratoderma.
SY   Mutilating keratoderma with ichthyosis.
SY   Vohwinkel syndrome variant form.
DR   MIM; 604117; phenotype.
DR   MedGen; C1858805.
DR   MeSH; D007057.
DR   MeSH; D007645.
DR   MeSH; D017880.
KW   KW-0977:Ichthyosis.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   von Hippel-Lindau disease.
AC   DI-01131
AR   VHLD.
DE   VHLD is a dominantly inherited familial cancer syndrome predisposing
DE   to a variety of malignant and benign neoplasms, most frequently
DE   retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma
DE   (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without
DE   pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is
DE   further subdivided into types 2A (pheochromocytoma, retinal angioma,
DE   and hemangioblastomas without renal cell carcinoma and pancreatic
DE   cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas
DE   with renal cell carcinoma and pancreatic cyst).
SY   VHLS.
SY   Von Hippel-Lindau syndrome.
DR   MIM; 193300; phenotype.
DR   MedGen; C0019562.
DR   MedGen; C2674004.
DR   MedGen; CN169367.
DR   MeSH; D006623.
//
ID   von Willebrand disease 1.
AC   DI-02903
AR   VWD1.
DE   A common hemorrhagic disorder due to defects in von Willebrand factor
DE   protein and resulting in impaired platelet aggregation. Von Willebrand
DE   disease type 1 is characterized by partial quantitative deficiency of
DE   circulating von Willebrand factor, that is otherwise structurally and
DE   functionally normal. Clinical manifestations are mucocutaneous
DE   bleeding, such as epistaxis and menorrhagia, and prolonged bleeding
DE   after surgery or trauma.
SY   von Willebrand disease type I.
SY   von Willebrand factor deficiency type 1.
DR   MIM; 193400; phenotype.
DR   MedGen; C1264039.
DR   MeSH; D056725.
//
ID   von Willebrand disease 2.
AC   DI-02904
AR   VWD2.
DE   A hemorrhagic disorder due to defects in von Willebrand factor protein
DE   and resulting in altered platelet aggregation. Von Willebrand disease
DE   type 2 is characterized by qualitative deficiency and functional
DE   anomalies of von Willebrand factor. It is divided in different
DE   subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant
DE   VWF protein in types 2A, 2B and 2M are defective in their platelet-
DE   dependent function, whereas the mutant protein in type 2N is defective
DE   in its ability to bind factor VIII. Clinical manifestations are
DE   mucocutaneous bleeding, such as epistaxis and menorrhagia, and
DE   prolonged bleeding after surgery or trauma.
SY   Von Willebrand disease Normandy variant.
SY   Von Willebrand disease type 2A.
SY   Von Willebrand disease type 2B.
SY   Von Willebrand disease type 2M.
SY   Von Willebrand disease type 2 Malmo.
SY   Von Willebrand disease type 2N.
SY   von Willebrand disease type II.
SY   Von Willebrand disease type I New York.
SY   von Willebrand factor deficiency type 2.
SY   VWD2A.
SY   VWD2B.
SY   VWD2M.
SY   VWD2N.
DR   MIM; 613554; phenotype.
DR   MedGen; C1264040.
DR   MedGen; C1282968.
DR   MedGen; C1282971.
DR   MedGen; C1282974.
DR   MedGen; C1282975.
DR   MeSH; D056728.
//
ID   von Willebrand disease 3.
AC   DI-02734
AR   VWD3.
DE   A severe hemorrhagic disorder due to a total or near total absence of
DE   von Willebrand factor in the plasma and cellular compartments, also
DE   leading to a profound deficiency of plasmatic factor VIII. Bleeding
DE   usually starts in infancy and can include epistaxis, recurrent
DE   mucocutaneous bleeding, excessive bleeding after minor trauma, and
DE   hemarthroses.
SY   von Willebrand disease recessive form.
SY   von Willebrand disease type III.
SY   von Willebrand factor deficiency type 3.
DR   MIM; 277480; phenotype.
DR   MedGen; C1264041.
DR   MedGen; C1848525.
DR   MeSH; D056729.
//
ID   Vulto-van Silfout-de Vries syndrome.
AC   DI-04122
AR   VSVS.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability, poor speech, motor delay, and autistic features. Most
DE   patients have additional non-specific features, including hypotonia
DE   and gait abnormalities, seizures, which may be refractory, high pain
DE   threshold, and sleep disturbances.
SY   IDDISBAS.
SY   Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures.
SY   MRD24.
DR   MIM; 615828; phenotype.
DR   MedGen; CN219639.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Waardenburg syndrome 1.
AC   DI-01133
AR   WS1.
DE   WS1 is an autosomal dominant disorder characterized by non-progressive
DE   sensorineural deafness, pigmentary disturbances such as frontal white
DE   blaze of hair, heterochromia of irides, white eyelashes, leukoderma,
DE   and wide bridge of nose owing to lateral displacement of the inner
DE   canthus of each eye (dystopia canthorum). WS1 shows variable clinical
DE   expression and some affected individuals do not manifest hearing
DE   impairment or iris pigmentation disturbances. Dystopia canthorum is
DE   the most consistent sign and is found in 98% of the patients.
DR   MIM; 193500; phenotype.
DR   MedGen; C1847800.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 2A.
AC   DI-01135
AR   WS2A.
DE   WS2 is a genetically heterogeneous, autosomal dominant disorder
DE   characterized by sensorineural deafness, pigmentary disturbances, and
DE   absence of dystopia canthorum. The frequency of deafness is higher in
DE   WS2 than in WS1.
DR   MIM; 193510; phenotype.
DR   MedGen; C1860339.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 2D.
AC   DI-01136
AR   WS2D.
DE   WS2 is a genetically heterogeneous, autosomal dominant disorder
DE   characterized by sensorineural deafness, pigmentary disturbances, and
DE   absence of dystopia canthorum. The frequency of deafness is higher in
DE   WS2 than in WS1.
DR   MIM; 608890; phenotype.
DR   MedGen; C1837203.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 2E.
AC   DI-01137
AR   WS2E.
DE   An autosomal dominant auditory-pigmentary disorder characterized by
DE   sensorineural deafness, pigmentary disturbances of the hair, skin and
DE   eyes, and absence of dystopia canthorum which is the lateral
DE   displacement of the inner canthus of each eye. Individuals with WS2E
DE   may have neurologic abnormalities, including mental impairment,
DE   myelination defects, and ataxia. Some patients can manifest features
DE   of Kallmann syndrome.
SY   Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation.
SY   Kallmann syndrome and deafness with or without hypopigmentation.
SY   Waardenburg syndrome type 2E with or without neurologic involvement.
SY   Waardenburg syndrome type IIE.
SY   WS2E with or without neurologic involvement.
DR   MIM; 611584; phenotype.
DR   MedGen; C2700405.
DR   MedGen; CN069052.
DR   MedGen; CN069053.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
KW   KW-0956:Kallmann syndrome.
//
ID   Waardenburg syndrome 2F.
AC   DI-06468
AR   WS2F.
DE   A form of Waardenburg syndrome, an auditory-pigmentary disorder
DE   characterized by sensorineural deafness, pigmentary disturbances of
DE   the hair, skin and eyes, and absence of dystopia canthorum which is
DE   the lateral displacement of the inner canthus of each eye. WS2F is an
DE   autosomal recessive form with variable expressivity, characterized by
DE   congenital or neonatal-onset sensorineural hearing loss.
DR   MIM; 619947; phenotype.
DR   MedGen; CN315606.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 3.
AC   DI-01138
AR   WS3.
DE   WS3 is an autosomal dominant disorder characterized by sensorineural
DE   deafness, pigmentary disturbances, dystopia canthorum and limb
DE   anomalies such as hypoplasia of the musculoskeletal system, flexion
DE   contractures, fusion of the carpal bones, syndactylies.
SY   Klein-Waardenburg syndrome.
SY   Waardenburg syndrome with upper limb anomalies.
SY   White forelock with malformations.
DR   MIM; 148820; phenotype.
DR   MedGen; C0079661.
DR   MedGen; C0342680.
DR   MeSH; D014849.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 4A.
AC   DI-01139
AR   WS4A.
DE   A disorder characterized by the association of Waardenburg features
DE   (depigmentation and deafness) with the absence of enteric ganglia in
DE   the distal part of the intestine (Hirschsprung disease).
SY   Hirschsprung disease with pigmentary anomaly.
SY   Shah-Waardenburg syndrome.
SY   Waardenburg-Shah syndrome.
SY   Waardenburg syndrome type IVA.
SY   Waardenburg syndrome with Hirschsprung disease type 4A.
DR   MIM; 277580; phenotype.
DR   MedGen; C1848519.
DR   MeSH; D014849.
KW   KW-0367:Hirschsprung disease.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 4B.
AC   DI-02677
AR   WS4B.
DE   A disorder characterized by the association of Waardenburg features
DE   (depigmentation and deafness) with the absence of enteric ganglia in
DE   the distal part of the intestine (Hirschsprung disease).
SY   Hirschsprung disease with pigmentary anomaly.
SY   Shah-Waardenburg syndrome.
SY   Waardenburg-Shah syndrome.
SY   Waardenburg syndrome type IVB.
SY   Waardenburg syndrome with Hirschsprung disease type 4B.
DR   MIM; 613265; phenotype.
DR   MedGen; C2750457.
DR   MeSH; D014849.
KW   KW-0367:Hirschsprung disease.
KW   KW-0897:Waardenburg syndrome.
//
ID   Waardenburg syndrome 4C.
AC   DI-02676
AR   WS4C.
DE   A disorder characterized by the association of Waardenburg features
DE   (depigmentation and deafness) with the absence of enteric ganglia in
DE   the distal part of the intestine (Hirschsprung disease).
SY   Hirschsprung disease with pigmentary anomaly.
SY   Shah-Waardenburg syndrome.
SY   Waardenburg-Shah syndrome.
SY   Waardenburg syndrome type IVC.
SY   Waardenburg syndrome with Hirschsprung disease type 4C.
DR   MIM; 613266; phenotype.
DR   MedGen; C2750452.
DR   MeSH; D014849.
KW   KW-0367:Hirschsprung disease.
KW   KW-0897:Waardenburg syndrome.
//
ID   Wagner vitreoretinopathy.
AC   DI-02416
AR   WGVRP.
DE   A rare vitreoretinopathy characterized by an optically empty vitreous
DE   cavity with fibrillary condensations and a preretinal avascular
DE   membrane. Other optical features include progressive chorioretinal
DE   atrophy, perivascular sheating, subcapsular cataract and myopia.
SY   Erosive vitreoretinopathy.
SY   ERVR.
SY   Hyaloideoretinal degeneration of Wagner.
SY   Wagner syndrome 1.
SY   Wagner vitreoretinal degeneration.
SY   WGN1.
DR   MIM; 143200; phenotype.
DR   MedGen; C0339540.
DR   MedGen; C1840452.
DR   MeSH; D012162.
//
ID   Waisman syndrome.
AC   DI-04321
AR   WSMN.
DE   A neurologic disorder characterized by delayed psychomotor
DE   development, intellectual disability, and early-onset Parkinson
DE   disease.
SY   BGMR.
SY   WSN.
DR   MIM; 311510; phenotype.
DR   MedGen; C0796195.
DR   MeSH; D008607.
DR   MeSH; D010300.
KW   KW-0907:Parkinson disease.
KW   KW-0991:Intellectual disability.
//
ID   Warburg micro syndrome 1.
AC   DI-02418
AR   WARBM1.
DE   A rare, autosomal recessive syndrome characterized by microcephaly,
DE   microphthalmia, microcornia, congenital cataracts, optic atrophy,
DE   cortical dysplasia, in particular corpus callosum hypoplasia, severe
DE   intellectual disability, spastic diplegia, and hypogonadism.
SY   Micro syndrome.
SY   WARBM.
SY   Warburg micro syndrome.
DR   MIM; 600118; phenotype.
DR   MedGen; C1838625.
DR   MeSH; D000015.
//
ID   Warburg micro syndrome 2.
AC   DI-03228
AR   WARBM2.
DE   A rare syndrome characterized by microcephaly, microphthalmia,
DE   microcornia, congenital cataracts, optic atrophy, cortical dysplasia,
DE   in particular corpus callosum hypoplasia, severe intellectual
DE   disability, spastic diplegia, and hypogonadism.
SY   Micro syndrome 2.
DR   MIM; 614225; phenotype.
DR   MedGen; C3280214.
DR   MeSH; D000015.
//
ID   Warburg micro syndrome 3.
AC   DI-03229
AR   WARBM3.
DE   A rare syndrome characterized by microcephaly, microphthalmia,
DE   microcornia, congenital cataracts, optic atrophy, cortical dysplasia,
DE   in particular corpus callosum hypoplasia, severe intellectual
DE   disability, spastic diplegia, and hypogonadism.
SY   Micro syndrome 3.
DR   MIM; 614222; phenotype.
DR   MedGen; C3280203.
DR   MeSH; D000015.
//
ID   Warburg micro syndrome 4.
AC   DI-04041
AR   WARBM4.
DE   A form of Warburg micro syndrome, a rare syndrome characterized by
DE   microcephaly, microphthalmia, microcornia, congenital cataracts, optic
DE   atrophy, cortical dysplasia, in particular corpus callosum hypoplasia,
DE   severe intellectual disability, spastic diplegia, and hypogonadism.
DR   MIM; 615663; phenotype.
DR   MedGen; C3810265.
DR   MedGen; CN184728.
DR   MeSH; D000015.
//
ID   Warburg-Cinotti syndrome.
AC   DI-05476
AR   WRCN.
DE   An autosomal dominant disease characterized by progressive corneal
DE   neovascularization, keloid formation, chronic skin ulcers, wasting of
DE   subcutaneous tissue, flexion contractures of the fingers, and acro-
DE   osteolysis.
DR   MIM; 618175; phenotype.
DR   MedGen; CN263110.
DR   MeSH; D000015.
//
ID   Warfarin sensitivity, X-linked.
AC   DI-05867
AR   WARFS.
DE   A condition characterized by sensitivity to warfarin, a drugs used as
DE   anti-coagulants for the prevention of thromboembolic diseases in
DE   subjects with deep vein thrombosis, atrial fibrillation, or mechanical
DE   heart valve replacement. Warfarin sensitive individuals develop
DE   bleeding complications when they are given warfarin within the
DE   therapeutic ranges.
SY   Coumarin sensitivity, X-linked.
DR   MIM; 301052; phenotype.
DR   MedGen; CN283288.
DR   MeSH; D004351.
//
ID   Warsaw breakage syndrome.
AC   DI-02764
AR   WBRS.
DE   A syndrome characterized by severe microcephaly, pre- and postnatal
DE   growth retardation, facial dysmorphism and abnormal skin pigmentation.
DE   Additional features include high arched palate, coloboma of the right
DE   optic disk, deafness, ventricular septal defect, toes and fingers
DE   abnormalities. At cellular level, drug-induced chromosomal breakage, a
DE   feature of Fanconi anemia, and sister chromatid cohesion defects, a
DE   feature of Roberts syndrome, coexist.
DR   MIM; 613398; phenotype.
DR   MedGen; C3150658.
DR   MeSH; D000015.
//
ID   Watson syndrome.
AC   DI-01140
AR   WTSN.
DE   A syndrome characterized by the presence of pulmonary stenosis, cafe-
DE   au-lait spots, and intellectual disability. It is considered as an
DE   atypical form of neurofibromatosis.
SY   Pulmonary stenosis with cafe-au-lait spots.
DR   MIM; 193520; phenotype.
DR   MedGen; C0553586.
DR   MeSH; D009456.
//
ID   Weaver syndrome.
AC   DI-01141
AR   WVS.
DE   A syndrome of accelerated growth and osseous maturation, unusual
DE   craniofacial appearance, hoarse and low-pitched cry, and hypertonia
DE   with camptodactyly. Distinguishing features of Weaver syndrome include
DE   broad forehead and face, ocular hypertelorism, prominent wide
DE   philtrum, micrognathia, deep horizontal chin groove, and deep-set
DE   nails. In addition, carpal bone development is advanced over the rest
DE   of the hand.
SY   Weaver-Smith syndrome.
SY   Weaver syndrome 1.
SY   Weaver syndrome 2.
SY   WSS.
SY   WVS1.
SY   WVS2.
DR   MIM; 277590; phenotype.
DR   MedGen; C0220765.
DR   MedGen; C0265210.
DR   MeSH; D006130.
//
ID   Webb-Dattani syndrome.
AC   DI-04175
AR   WEDAS.
DE   A disorder characterized by postnatal microcephaly with fronto-
DE   temporal lobe hypoplasia, multiple pituitary hormone deficiency,
DE   global developmental delay, seizures, severe visual impairment and
DE   abnormalities of the kidneys and urinary tract.
SY   Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies.
DR   MIM; 615926; phenotype.
DR   MedGen; CN207526.
DR   MeSH; D007018.
DR   MeSH; D008831.
//
ID   Weill-Marchesani syndrome 1.
AC   DI-01143
AR   WMS1.
DE   A rare connective tissue disorder characterized by short stature,
DE   brachydactyly, joint stiffness, and eye abnormalities including
DE   microspherophakia, ectopia lentis, severe myopia and glaucoma.
SY   Autosomal recessive Weill-Marchesani syndrome.
SY   Congenital mesodermal dysmorphodystrophy.
SY   Spherophakia-brachymorphia syndrome.
DR   MIM; 277600; phenotype.
DR   MedGen; C1869114.
DR   MeSH; D056846.
KW   KW-0242:Dwarfism.
//
ID   Weill-Marchesani syndrome 2.
AC   DI-01142
AR   WMS2.
DE   A rare connective tissue disorder characterized by short stature,
DE   brachydactyly, joint stiffness, and eye abnormalities including
DE   microspherophakia, ectopia lentis, severe myopia and glaucoma.
SY   Autosomal dominant Weill-Marchesani syndrome.
SY   Congenital mesodermal dysmorphodystrophy.
SY   GEMSS.
SY   Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome.
SY   Spherophakia-brachymorphia syndrome.
DR   MIM; 608328; phenotype.
DR   MedGen; C1869115.
DR   MeSH; D056846.
KW   KW-0242:Dwarfism.
//
ID   Weill-Marchesani syndrome 3.
AC   DI-03526
AR   WMS3.
DE   A rare connective tissue disorder characterized by short stature,
DE   brachydactyly, joint stiffness, and eye abnormalities including
DE   microspherophakia, ectopia lentis, severe myopia and glaucoma.
DR   MIM; 614819; phenotype.
DR   MedGen; C3553785.
DR   MedGen; CN143721.
DR   MeSH; D056846.
KW   KW-0242:Dwarfism.
//
ID   Weill-Marchesani syndrome 4.
AC   DI-02827
AR   WMS4.
DE   An autosomal recessive syndrome characterized by lenticular myopia,
DE   ectopia lentis, glaucoma, spherophakia and short stature.
DE   Brachydactyly and decreased joint flexibility are present in some
DE   patients.
SY   Weill-Marchesani-like syndrome.
SY   WMSL.
DR   MIM; 613195; phenotype.
DR   MedGen; C2750787.
DR   MeSH; D004392.
DR   MeSH; D015785.
KW   KW-0242:Dwarfism.
//
ID   Weiss-Kruszka syndrome.
AC   DI-05675
AR   WSKA.
DE   An autosomal dominant, multiple congenital anomaly syndrome with
DE   variable expressivity and complete penetrance. Patients manifest
DE   developmental delay, hypotonia, feeding difficulties, craniofacial
DE   abnormalities including ptosis, abnormal head shape, downslanting
DE   palpebral fissures, metopic ridging, and craniosynostosis. Variable
DE   congenital heart defects can be observed in some patients. A few
DE   patients show agenesis of the corpus callosum on brain imaging.
DR   MIM; 618619; phenotype.
DR   MedGen; CN262386.
DR   MeSH; D000015.
//
ID   Welander distal myopathy.
AC   DI-03766
AR   WDM.
DE   An autosomal dominant disorder characterized by adult onset of distal
DE   muscle weakness predominantly affecting the distal long extensors of
DE   the hands, with slow progression to involve all small hand muscles and
DE   the lower legs. Skeletal muscle biopsy shows myopathic changes and
DE   prominent rimmed vacuoles. Rare homozygous patients showed earlier
DE   onset, faster progression, and proximal muscle involvement.
SY   Late-onset autosomal dominant distal muscular dystrophy.
SY   Swedish distal myopathy.
DR   MIM; 604454; phenotype.
DR   MedGen; C0221054.
DR   MeSH; D049310.
//
ID   Werner syndrome.
AC   DI-01145
AR   WRN.
DE   A rare autosomal recessive progeroid syndrome characterized by the
DE   premature onset of multiple age-related disorders, including
DE   atherosclerosis, cancer, non-insulin-dependent diabetes mellitus,
DE   ocular cataracts and osteoporosis. The major cause of death, at a
DE   median age of 47, is myocardial infarction.
DR   MIM; 277700; phenotype.
DR   MedGen; C0043119.
DR   MeSH; D014898.
//
ID   WHIM syndrome 1.
AC   DI-02419
AR   WHIMS1.
DE   An autosomal dominant immunologic disease characterized by
DE   neutropenia, hypogammaglobulinemia and extensive human papillomavirus
DE   (HPV) infection. Despite the peripheral neutropenia, bone marrow
DE   aspirates from affected individuals contain abundant mature myeloid
DE   cells, a condition termed myelokathexis.
SY   Warts, hypogammaglobulinemia, infections and myelokathexis syndrome 1.
SY   WHIMS.
DR   MIM; 193670; phenotype.
DR   MedGen; C0472817.
DR   MeSH; D000081207.
//
ID   WHIM syndrome 2.
AC   DI-06160
AR   WHIMS2.
DE   An autosomal recessive form of WHIM syndrome, a primary
DE   immunodeficiency disorder characterized by warts,
DE   hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is
DE   a unique form of non-cyclic severe congenital neutropenia caused by
DE   accumulation of mature and degenerating neutrophils in the bone
DE   marrow. Monocytopenia and lymphopenia, especially B lymphopenia, also
DE   commonly occur. There is significant phenotypic variation among
DE   patients, such that some individuals may have an incomplete form of
DE   the disorder in which one or more of the classic tetrad features are
DE   not present.
SY   Warts, hypogammaglobulinemia, infections, and myelokathexis 2.
DR   MIM; 619407; phenotype.
DR   MedGen; CN299632.
DR   MeSH; D000081207.
//
ID   White sponge nevus 1.
AC   DI-02420
AR   WSN1.
DE   A rare disorder characterized by the presence of soft, white, and
DE   spongy plaques in the oral mucosa. The characteristic histopathologic
DE   features are epithelial thickening, parakeratosis, and vacuolization
DE   of the suprabasal layer of oral epithelial keratinocytes. Less
DE   frequently the mucous membranes of the nose, esophagus, genitalia and
DE   rectum are involved.
SY   Hereditary mucosal leukokeratosis.
SY   White sponge nevus of Cannon.
DR   MIM; 193900; phenotype.
DR   MedGen; C1721005.
DR   MeSH; D053529.
//
ID   White sponge nevus 2.
AC   DI-04113
AR   WSN2.
DE   A rare disorder characterized by the presence of soft, white, and
DE   spongy plaques in the oral mucosa. The characteristic histopathologic
DE   features are epithelial thickening, parakeratosis, and vacuolization
DE   of the suprabasal layer of oral epithelial keratinocytes. Less
DE   frequently the mucous membranes of the nose, esophagus, genitalia and
DE   rectum are involved.
DR   MIM; 615785; phenotype.
DR   MedGen; CN187048.
DR   MeSH; D053529.
//
ID   White-Kernohan syndrome.
AC   DI-06165
AR   WHIKERS.
DE   An autosomal dominant disorder characterized by global developmental
DE   delay, variably impaired intellectual development, hypotonia, and
DE   characteristic facial features. Some patients may have genitourinary
DE   and skeletal abnormalities.
SY   Global developmental delay, hypotonia, and characteristic facial features.
DR   MIM; 619426; phenotype.
DR   MedGen; CN299973.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   White-Sutton syndrome.
AC   DI-04421
AR   WHSUS.
DE   An autosomal dominant syndrome characterized by developmental delay,
DE   intellectual disability, hypotonia, behavioral abnormalities, and
DE   dysmorphic facial features. Variable features include short stature,
DE   microcephaly, strabismus and hearing loss.
SY   MRD37.
DR   MIM; 616364; phenotype.
DR   MedGen; CN230318.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Wieacker-Wolf syndrome.
AC   DI-03791
AR   WRWF.
DE   A severe X-linked recessive neurodevelopmental disorder affecting the
DE   central and peripheral nervous systems. It is characterized by onset
DE   of muscle weakness in utero (fetal akinesia). Affected boys are born
DE   with severe contractures, known as arthrogryposis, and have delayed
DE   motor development, facial and bulbar weakness, characteristic
DE   dysmorphic facial features, and skeletal abnormalities, such as hip
DE   dislocation, scoliosis, and pes equinovarus. Those that survive
DE   infancy show intellectual disability. Carrier females may have mild
DE   features of the disorder.
SY   Contractures of feet, muscle atrophy, and oculomotor apraxia.
SY   MCS.
SY   MRXS4.
SY   Oculomotor apraxia with congenital contractures and muscle atrophy.
SY   Wieacker syndrome.
DR   MIM; 314580; phenotype.
DR   MedGen; C0796200.
DR   MeSH; D001072.
DR   MeSH; D003286.
DR   MeSH; D009133.
DR   MeSH; D009886.
KW   KW-0991:Intellectual disability.
//
ID   Wieacker-Wolff syndrome, female-restricted.
AC   DI-05800
AR   WRWFFR.
DE   An X-linked dominant neurodevelopmental disorder affecting the central
DE   and peripheral nervous systems. It is characterized by onset of muscle
DE   weakness in utero resulting in fetal akinesia, arthrogryposis
DE   multiplex congenita and diffuse contractures apparent at birth, global
DE   developmental delay with difficulty walking or inability to walk,
DE   hypotonia, variably impaired intellectual development, poor or absent
DE   speech and language, and dysmorphic features.
DR   MIM; 301041; phenotype.
DR   MedGen; CN272919.
DR   MeSH; D001072.
DR   MeSH; D003286.
DR   MeSH; D009133.
DR   MeSH; D009886.
KW   KW-0991:Intellectual disability.
//
ID   Wiedemann-Rautenstrauch syndrome.
AC   DI-05494
AR   WDRTS.
DE   An autosomal recessive, neonatal progeroid disorder characterized by
DE   intrauterine growth retardation, failure to thrive, short stature,
DE   hypotonia, variable mental impairment, and a progeroid appearance.
DE   Clinical features include apparent macrocephaly, sparse hair,
DE   prominent scalp veins, entropion, greatly widened anterior
DE   fontanelles, malar hypoplasia, and generalized lipoatrophy. Death
DE   usually occurs in early childhood but survival to third decade has
DE   been reported.
SY   Progeroid syndrome, neonatal.
DR   MIM; 264090; phenotype.
DR   MedGen; C0406586.
DR   MeSH; D005317.
DR   MeSH; D011371.
//
ID   Wiedemann-Steiner syndrome.
AC   DI-03533
AR   WDSTS.
DE   A syndrome characterized by hairy elbows (hypertrichosis cubiti),
DE   intellectual disability, a distinctive facial appearance, and short
DE   stature. Facial characteristics include long eyelashes, thick or
DE   arched eyebrows with a lateral flare, and downslanting and vertically
DE   narrow palpebral fissures.
SY   Hairy elbows short stature facial dysmorphism and developmental delay.
SY   Hypertrichosis cubiti facial dysmorphism and developmental delay.
SY   WSS.
DR   MIM; 605130; phenotype.
DR   MedGen; C1854630.
DR   MeSH; D006983.
//
ID   Wilms tumor 1.
AC   DI-02421
AR   WT1.
DE   Embryonal malignancy of the kidney that affects approximately 1 in
DE   10'000 infants and young children. It occurs both in sporadic and
DE   hereditary forms.
DR   MIM; 194070; phenotype.
DR   MedGen; C0027708.
//
ID   Wilms tumor 6.
AC   DI-04647
AR   WT6.
DE   A pediatric malignancy of kidney, and the most common childhood
DE   abdominal malignancy. It is caused by the uncontrolled multiplication
DE   of renal stem, stromal, and epithelial cells.
SY   Susceptibility to Wilms tumor 6.
SY   Wilms tumor, susceptibility to.
SY   Wilms tumor 6, susceptibility to.
DR   MIM; 616806; phenotype.
DR   MedGen; CN235182.
DR   MeSH; D009396.
//
ID   Wilson disease.
AC   DI-01146
AR   WD.
DE   An autosomal recessive disorder of copper metabolism in which copper
DE   cannot be incorporated into ceruloplasmin in liver, and cannot be
DE   excreted from the liver into the bile. Copper accumulates in the liver
DE   and subsequently in the brain and kidney. The disease is characterized
DE   by neurologic manifestations and signs of cirrhosis.
SY   Hepatolenticular degeneration.
DR   MIM; 277900; phenotype.
DR   MedGen; C0019202.
DR   MeSH; D006527.
//
ID   Winchester syndrome.
AC   DI-03898
AR   WNCHRS.
DE   A disease characterized by severe osteolysis in the hands and feet,
DE   generalized osteoporosis, bone thinning, and absence of subcutaneous
DE   nodules. Various additional features include coarse face, corneal
DE   opacities, gum hypertrophy, and EKG changes.
DR   MIM; 277950; phenotype.
DR   MedGen; C0432289.
DR   MeSH; D010014.
DR   MeSH; D010024.
//
ID   Wiskott-Aldrich syndrome.
AC   DI-01147
AR   WAS.
DE   An X-linked recessive immunodeficiency characterized by eczema,
DE   thrombocytopenia, recurrent infections, and bloody diarrhea. Death
DE   usually occurs before age 10.
SY   Aldrich syndrome.
SY   Eczema-thrombocytopenia-immunodeficiency syndrome.
SY   IMD2.
SY   Immunodeficiency 2.
SY   WAS1.
SY   Wiskott-Aldrich syndrome 1.
DR   MIM; 301000; phenotype.
DR   MedGen; C0043194.
DR   MeSH; D014923.
//
ID   Wiskott-Aldrich syndrome 2.
AC   DI-03385
AR   WAS2.
DE   An immunodeficiency disorder characterized by eczema,
DE   thrombocytopenia, recurrent infections, defective T-cell
DE   proliferation, and impaired natural killer cell function.
SY   WIPF1 deficiency.
DR   MIM; 614493; phenotype.
DR   MedGen; C3281001.
DR   MeSH; D014923.
//
ID   Witteveen-Kolk syndrome.
AC   DI-05538
AR   WITKOS.
DE   An autosomal dominant syndrome characterized by global developmental
DE   delay, mild to severe intellectual disability, and facial dysmorphism.
DE   Additional features include short stature, microcephaly, joint
DE   hypermotility, and small hands and feet with digital abnormalities.
DE   Brain imaging shows dilated ventricles, thin corpus callosum and, in
DE   some cases, dysgyria or polymicrogyria.
DR   MIM; 613406; phenotype.
DR   MedGen; C4310804.
DR   MeSH; D000015.
KW   KW-0242:Dwarfism.
KW   KW-0991:Intellectual disability.
//
ID   Wolcott-Rallison syndrome.
AC   DI-01149
AR   WRS.
DE   A rare autosomal recessive disorder, characterized by permanent
DE   neonatal or early infancy insulin-dependent diabetes and, at a later
DE   age, epiphyseal dysplasia, osteoporosis, growth retardation and other
DE   multisystem manifestations, such as hepatic and renal dysfunctions,
DE   intellectual disability and cardiovascular abnormalities.
SY   IDDM-MED syndrome.
SY   MED-IDDM syndrome.
SY   Multiple epiphyseal dysplasia with early-onset diabetes mellitus.
DR   MIM; 226980; phenotype.
DR   MedGen; C0432217.
DR   MeSH; D010009.
//
ID   Wolff-Parkinson-White syndrome.
AC   DI-01150
AR   WPW.
DE   A supernormal conduction disorder characterized by the presence of one
DE   or several accessory atrioventricular connections, which can lead to
DE   episodes of sporadic tachycardia.
SY   Ventricular familial preexcitation syndrome.
SY   WPW syndrome preexcitation syndrome.
DR   MIM; 194200; phenotype.
DR   MedGen; C0032915.
DR   MedGen; C0043202.
DR   MeSH; D014927.
//
ID   Wolfram syndrome 1.
AC   DI-01151
AR   WFS1.
DE   A rare disorder characterized by juvenile-onset insulin-dependent
DE   diabetes mellitus with optic atrophy. Other manifestations include
DE   diabetes insipidus, sensorineural deafness, dementia, psychiatric
DE   illnesses.
SY   Diabetes insipidus and mellitus with optic atrophy and deafness syndrome.
SY   DIDMOAD.
SY   WFS.
DR   MIM; 222300; phenotype.
DR   MedGen; C0043207.
DR   MeSH; D014929.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
//
ID   Wolfram syndrome 2.
AC   DI-02423
AR   WFS2.
DE   A rare disorder characterized by juvenile-onset insulin-dependent
DE   diabetes mellitus with optic atrophy. Other manifestations include
DE   diabetes insipidus, sensorineural deafness, dementia, psychiatric
DE   illnesses. WFS2 patients additionally show a strong bleeding tendency
DE   and gastrointestinal ulceration. Diabetes insipidus may be absent.
DR   MIM; 604928; phenotype.
DR   MedGen; C1858028.
DR   MeSH; D014929.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
//
ID   Wolfram-like syndrome autosomal dominant.
AC   DI-03292
AR   WFSL.
DE   A disease characterized by the clinical triad of congenital
DE   progressive hearing impairment, diabetes mellitus, and optic atrophy.
DE   The hearing impairment, which is usually diagnosed in the first decade
DE   of life, is relatively constant and alters mainly low- and middle-
DE   frequency ranges.
SY   Hearing loss progressive with optic atrophy and/or impaired glucose regulation.
DR   MIM; 614296; phenotype.
DR   MedGen; C3280358.
DR   MeSH; D014929.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
//
ID   Wolman disease.
AC   DI-01152
AR   WOLD.
DE   An autosomal recessive, fulminant form of lysosomal acid lipase
DE   deficiency manifesting in early infancy. It is characterized by
DE   massive infiltration of the liver, spleen, and other organs by
DE   macrophages filled with cholesteryl esters and triglycerides. In
DE   addition, accumulation of cholesteryl esters in the zona reticularis
DE   of the adrenal gland leads to adrenal calcification and cortical
DE   insufficiency. Death occurs early in life from inanition.
SY   Cholesterol ester hydrolase deficiency, complete.
SY   LAL deficiency, complete.
SY   LIPA deficiency, complete.
SY   Lysosomal acid lipase deficiency, acute infantile.
SY   Lysosomal acid lipase deficiency, complete.
DR   MIM; 620151; phenotype.
DR   MedGen; C0043208.
DR   MeSH; D015223.
//
ID   Woodhouse-Sakati syndrome.
AC   DI-02424
AR   WDSKS.
DE   A rare autosomal recessive disorder characterized by hypogonadism,
DE   alopecia, diabetes mellitus, intellectual disability, and
DE   extrapyramidal syndrome.
DR   MIM; 241080; phenotype.
DR   MedGen; C0342286.
KW   KW-0209:Deafness.
KW   KW-0219:Diabetes mellitus.
KW   KW-0991:Intellectual disability.
KW   KW-1063:Hypotrichosis.
//
ID   Woolly hair autosomal dominant.
AC   DI-02722
AR   ADWH.
DE   A hair shaft disorder characterized by fine and tightly curled hair.
DE   Compared to normal curly hair that is observed in some populations,
DE   woolly hair grows slowly and stops growing after a few inches. Under
DE   light microscopy, woolly hair shows some structural anomalies,
DE   including trichorrhexis nodosa and tapered ends.
DR   MIM; 194300; phenotype.
DR   MedGen; C1860238.
DR   MeSH; D006201.
//
ID   Woolly hair autosomal recessive 1 with or without hypotrichosis.
AC   DI-01263
AR   ARWH1.
DE   A hair shaft disorder characterized by fine and tightly curled hair.
DE   Compared to normal curly hair that is observed in some populations,
DE   woolly hair grows slowly and stops growing after a few inches. Under
DE   light microscopy, woolly hair shows some structural anomalies,
DE   including trichorrhexis nodosa and tapered ends. Some individuals
DE   exhibit features of hypotrichosis.
DR   MIM; 278150; phenotype.
DR   MedGen; C3279470.
DR   MeSH; D006201.
//
ID   Woolly hair autosomal recessive 2.
AC   DI-02723
AR   ARWH2.
DE   A hair shaft disorder characterized by fine and tightly curled hair.
DE   Compared to normal curly hair that is observed in some populations,
DE   woolly hair grows slowly and stops growing after a few inches. Under
DE   light microscopy, woolly hair shows some structural anomalies,
DE   including trichorrhexis nodosa and tapered ends. Some individuals may
DE   present with hypotrichosis.
SY   WH/HT.
SY   Woolly hair autosomal recessive 2 with or without hypotrichosis.
DR   MIM; 604379; phenotype.
DR   MedGen; C3148823.
DR   MedGen; C3148824.
DR   MeSH; D006201.
//
ID   Woolly hair autosomal recessive 3.
AC   DI-04638
AR   ARWH3.
DE   A hair shaft disorder characterized by fine and tightly curled hair.
DE   Compared to normal curly hair that is observed in some populations,
DE   woolly hair grows slowly and stops growing after a few inches. Under
DE   light microscopy, woolly hair shows some structural anomalies,
DE   including trichorrhexis nodosa and tapered ends. Some individuals may
DE   present with hypotrichosis.
SY   Woolly hair, autosomal recessive 3, with hypotrichosis.
DR   MIM; 616760; phenotype.
DR   MedGen; CN234890.
DR   MeSH; D006201.
KW   KW-1063:Hypotrichosis.
//
ID   Woolly hair-skin fragility syndrome.
AC   DI-06738
AR   WHSF.
DE   An autosomal recessive genodermatosis characterized by woolly hair
DE   texture with slow hair growth, and skin fragility present at birth or
DE   appearing in the neonatal period. Skin fragility then resolves or only
DE   persists as minor skin peeling, predominantly affecting the palms and
DE   soles.
DR   MIM; 620415; phenotype.
DR   MedGen; C1843292.
DR   MeSH; D006201.
DR   MeSH; D012873.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Wrinkly skin syndrome.
AC   DI-02425
AR   WSS.
DE   A rare autosomal recessive disorder characterized by wrinkling of the
DE   skin of the dorsum of the hands and feet, an increased number of
DE   palmar and plantar creases, wrinkled abdominal skin, multiple
DE   musculoskeletal abnormalities, microcephaly, growth failure and
DE   developmental delay.
DR   MIM; 278250; phenotype.
DR   MedGen; C0406587.
DR   MeSH; D003483.
//
ID   X-linked agammaglobulinemia.
AC   DI-02427
AR   XLA.
DE   Humoral immunodeficiency disease which results in developmental
DE   defects in the maturation pathway of B-cells. Affected boys have
DE   normal levels of pre-B-cells in their bone marrow but virtually no
DE   circulating mature B-lymphocytes. This results in a lack of
DE   immunoglobulins of all classes and leads to recurrent bacterial
DE   infections like otitis, conjunctivitis, dermatitis, sinusitis in the
DE   first few years of life, or even some patients present overwhelming
DE   sepsis or meningitis, resulting in death in a few hours. Treatment in
DE   most cases is by infusion of intravenous immunoglobulin.
SY   AGMX1.
SY   IMD1.
SY   Immunodeficiency type 1.
SY   X-linked agammaglobulinemia type 1.
DR   MIM; 300755; phenotype.
DR   MedGen; C0221026.
DR   MedGen; C0241932.
//
ID   X-linked combined immunodeficiency.
AC   DI-02437
AR   XCID.
DE   Less severe form of X-linked immunodeficiency with a less severe
DE   degree of deficiency in cellular and humoral immunity than that seen
DE   in XSCID.
DR   MIM; 312863; phenotype.
DR   MedGen; C1706416.
//
ID   X-linked dyserythropoietic anemia and thrombocytopenia.
AC   DI-02443
AR   XDAT.
DE   Disorder characterized by erythrocytes with abnormal size and shape,
DE   and paucity of platelets in peripheral blood. The bone marrow contains
DE   abundant and abnormally small megakaryocytes.
DR   MIM; 300367; phenotype.
DR   MedGen; C1845837.
DR   MedGen; C1845838.
DR   MedGen; C3550789.
//
ID   Xanthinuria 1.
AC   DI-01153
AR   XAN1.
DE   A disorder characterized by excretion of very large amounts of
DE   xanthine in the urine and a tendency to form xanthine stones. Uric
DE   acid is strikingly diminished in serum and urine. XAN1 is due to
DE   isolated xanthine dehydrogenase deficiency. Patients can metabolize
DE   allopurinol.
SY   Xanthic urolithiasis.
SY   Xanthine dehydrogenase deficiency.
SY   Xanthine oxidase deficiency.
SY   XDH deficiency.
DR   MIM; 278300; phenotype.
DR   MedGen; C0268118.
DR   MeSH; D011686.
DR   MeSH; D052878.
//
ID   Xanthinuria 2.
AC   DI-01154
AR   XAN2.
DE   A disorder characterized by excretion of very large amounts of
DE   xanthine in the urine and a tendency to form xanthine stones. Uric
DE   acid is strikingly diminished in serum and urine. In addition, XAN2
DE   patients cannot metabolize allopurinol into oxypurinol due to dual
DE   deficiency of xanthine dehydrogenase and aldehyde oxidase.
SY   Combined deficiency of xanthine dehydrogenase and aldehyde oxidase.
SY   Xanthic urolithiasis.
DR   MIM; 603592; phenotype.
DR   MedGen; C1863688.
DR   MeSH; D008661.
DR   MeSH; D052878.
//
ID   Xeroderma pigmentosum complementation group A.
AC   DI-01155
AR   XP-A.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. XP-A patients show the most severe skin
DE   symptoms and progressive neurological disorders.
SY   Xeroderma pigmentosum I.
SY   XP1.
SY   XP group A.
DR   MIM; 278700; phenotype.
DR   MedGen; CN068460.
DR   MeSH; D014983.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group B.
AC   DI-01156
AR   XP-B.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. Some XP-B patients present features of
DE   Cockayne syndrome, including cachectic dwarfism, pigmentary
DE   retinopathy, ataxia, decreased nerve conduction velocities. The
DE   phenotype combining xeroderma pigmentosum and Cockayne syndrome traits
DE   is referred to as XP-CS complex.
SY   Xeroderma pigmentosum group B with Cockayne syndrome.
SY   Xeroderma pigmentosum II.
SY   XP2.
SY   XP-B/CS.
SY   XP group B.
DR   MIM; 610651; phenotype.
DR   MedGen; C0268136.
DR   MedGen; C1970808.
DR   MeSH; D014983.
KW   KW-0172:Cockayne syndrome.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group C.
AC   DI-01157
AR   XP-C.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities.
SY   Xeroderma pigmentosum III.
SY   XP3.
SY   XPC.
SY   XPCC.
SY   XP group C.
DR   MIM; 278720; phenotype.
DR   MedGen; C2752147.
DR   MeSH; D014983.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group D.
AC   DI-01158
AR   XP-D.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. Some XP-D patients present features of
DE   Cockayne syndrome, including cachectic dwarfism, pigmentary
DE   retinopathy, ataxia, decreased nerve conduction velocities. The
DE   phenotype combining xeroderma pigmentosum and Cockayne syndrome traits
DE   is referred to as XP-CS complex.
SY   Xeroderma pigmentosum IV.
SY   Xeroderma pigmentosum VIII.
SY   XP4.
SY   XP8.
SY   XP-D/CS.
SY   XPDC.
SY   XP group D.
SY   XP group H.
SY   XPH.
DR   MIM; 278730; phenotype.
DR   MedGen; C0268138.
DR   MedGen; C1848412.
DR   MedGen; C1848413.
DR   MedGen; C1848414.
DR   MedGen; C1848415.
DR   MeSH; D014983.
KW   KW-0172:Cockayne syndrome.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group E.
AC   DI-01159
AR   XP-E.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. XP-E patients show a mild phenotype with
DE   minimal or no neurologic features.
SY   Xeroderma pigmentosum V.
SY   XP5.
SY   XP group E.
DR   MIM; 278740; phenotype.
DR   MedGen; C1848411.
DR   MeSH; D014983.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group F.
AC   DI-01160
AR   XP-F.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. XP-F patients show a mild phenotype.
SY   Xeroderma pigmentosum VI.
SY   XP6.
SY   XP group F.
DR   MIM; 278760; phenotype.
DR   MedGen; C0268140.
DR   MeSH; D014983.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum complementation group G.
AC   DI-01161
AR   XP-G.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. The skin develops marked freckling and other
DE   pigmentation abnormalities. Some XP-G patients present features of
DE   Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia,
DE   decreased nerve conduction velocities. The phenotype combining
DE   xeroderma pigmentosum and Cockayne syndrome traits is referred to as
DE   XP-CS complex.
SY   Xeroderma pigmentosum VII.
SY   XP7.
SY   XP-G/CS.
SY   XP group G.
DR   MIM; 278780; phenotype.
DR   MedGen; C0268141.
DR   MedGen; C1851443.
DR   MedGen; C1968561.
DR   MeSH; D014983.
KW   KW-0172:Cockayne syndrome.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum type F/Cockayne syndrome.
AC   DI-03805
AR   XPF/CS.
DE   A variant form of Cockayne syndrome, a disorder characterized by
DE   growth retardation, microcephaly, impairment of nervous system
DE   development, pigmentary retinopathy, peculiar facies, and progeria
DE   together with abnormal skin photosensitivity. Cockayne syndrome
DE   dermatological features are milder than those in xeroderma pigmentosum
DE   and skin cancers are not found in affected individuals. XPF/CS
DE   patients, however, present with severe skin phenotypes, including
DE   severe photosensitivity, abnormal skin pigmentation, and skin cancer
DE   predisposition.
DR   MIM; 278760; phenotype.
DR   MedGen; C3806565.
DR   MedGen; CN177726.
DR   MeSH; D003057.
DR   MeSH; D014983.
KW   KW-0172:Cockayne syndrome.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xeroderma pigmentosum variant type.
AC   DI-01162
AR   XPV.
DE   An autosomal recessive pigmentary skin disorder characterized by solar
DE   hypersensitivity of the skin, high predisposition for developing
DE   cancers on areas exposed to sunlight and, in some cases, neurological
DE   abnormalities. XPV shows normal nucleotide excision repair, but an
DE   exaggerated delay in recovery of replicative DNA synthesis. Most
DE   patients with the variant type of xeroderma pigmentosum do not develop
DE   clinical symptoms and skin neoplasias until a later age. Clinical
DE   manifestations are limited to photo-induced deterioration of the skin
DE   and eyes.
SY   Xeroderma pigmentosum with normal DNA repair rates.
DR   MIM; 278750; phenotype.
DR   MedGen; C1848410.
DR   MeSH; D014983.
KW   KW-0857:Xeroderma pigmentosum.
//
ID   Xerosis and growth failure with immune and pulmonary dysfunction syndrome.
AC   DI-06762
AR   XGIP.
DE   An autosomal recessive disorder characterized by premature birth,
DE   severe intrauterine growth deficiency, congenital ichthyosis-like
DE   features such as collodion membrane, severe skin peeling and xerosis,
DE   and death before the first year of life. Patients also exhibit
DE   bronchopulmonary disease, thrombocytopenia, and neutropenia.
DE   Additional variable features include cardiac anomalies, seizures,
DE   encephalopathy, cholestasis, and cataract.
DR   MIM; 620510; phenotype.
DR   MedGen; CN374328.
DR   MeSH; D000015.
DR   MeSH; D007057.
KW   KW-0977:Ichthyosis.
//
ID   XFE progeroid syndrome.
AC   DI-02464
AR   XFEPS.
DE   A syndrome characterized by aged bird-like facies, lack of
DE   subcutaneous fat, dwarfism, cachexia and microcephaly. Additional
DE   features include sun-sensitivity from birth, learning disabilities,
DE   hearing loss, and visual impairment.
SY   XPF-ERCC1 progeroid syndrome.
DR   MIM; 610965; phenotype.
DR   MedGen; C1970416.
DR   MeSH; D049914.
KW   KW-0242:Dwarfism.
//
ID   Xia-Gibbs syndrome.
AC   DI-04125
AR   XIGIS.
DE   An autosomal dominant disorder characterized by intellectual
DE   disability, mild dysmorphism, hypotonia, delayed psychomotor
DE   development with absent or poor expressive language, hypoplasia of the
DE   corpus callosum, simplified gyral pattern, and delayed myelination.
SY   MRD25.
DR   MIM; 615829; phenotype.
DR   MedGen; CN188260.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Yao syndrome.
AC   DI-04941
AR   YAOS.
DE   An autoinflammatory disease characterized by periodic fever,
DE   dermatitis, polyarthritis, leg swelling, and gastrointestinal and
DE   sicca-like symptoms. YAOS is a complex disease with multifactorial
DE   inheritance.
DR   MIM; 617321; phenotype.
DR   MedGen; CN240388.
DR   MeSH; D056660.
//
ID   Yemenite deaf-blind hypopigmentation syndrome.
AC   DI-02466
AR   YDBHS.
DE   A disorder characterized by cutaneous hypopigmented and hyperpigmented
DE   spots and patches, microcornea, coloboma and severe hearing loss.
DR   MIM; 601706; phenotype.
DR   MedGen; C1866425.
DR   MeSH; D001766.
DR   MeSH; D003638.
DR   MeSH; D017496.
KW   KW-0209:Deafness.
//
ID   Yoon-Bellen neurodevelopmental syndrome.
AC   DI-06316
AR   YOBELN.
DE   An autosomal recessive disorder characterized by global developmental
DE   delay, and variably impaired intellectual development. Additional
DE   variable features may include hypotonia, spasticity, ataxia, hearing
DE   loss, visual problems, seizures, and non-specific anomalies on brain
DE   imaging.
DR   MIM; 619701; phenotype.
DR   MedGen; CN305922.
DR   MeSH; D065886.
KW   KW-0991:Intellectual disability.
//
ID   You-Hoover-Fong syndrome.
AC   DI-04744
AR   YHFS.
DE   A syndrome characterized by severe global developmental delay,
DE   intellectual disability, dysmorphic facial features, microcephaly,
DE   abnormal movements, congenital heart disease comprising developmental
DE   abnormalities of the great vessels, and abnormal auditory and visual
DE   function. The transmission pattern is consistent with autosomal
DE   recessive inheritance.
DR   MIM; 616954; phenotype.
DR   MedGen; CN236793.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
ID   Yunis-Varon syndrome.
AC   DI-03789
AR   YVS.
DE   A severe autosomal recessive disorder characterized by skeletal
DE   defects, including cleidocranial dysplasia and digital anomalies, and
DE   severe neurologic involvement with neuronal loss. Enlarged cytoplasmic
DE   vacuoles are found in neurons, muscle, and cartilage. The disorder is
DE   usually lethal in infancy.
SY   Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia.
DR   MIM; 216340; phenotype.
DR   MedGen; C1857663.
DR   MeSH; D002973.
DR   MeSH; D008844.
DR   MeSH; D017880.
//
ID   Zaki syndrome.
AC   DI-06290
AR   ZKS.
DE   An autosomal recessive disorder characterized by developmental delay,
DE   progressive microcephaly, and short stature, as well as dysmorphic
DE   features including sparse scalp hair, cupped ears, wide nose and
DE   mouth, short philtrum, and high-arched palate. Other variable features
DE   have been observed, including ocular, skeletal, cardiac, and renal
DE   anomalies.
DR   MIM; 619648; phenotype.
DR   MedGen; CN305088.
DR   MeSH; D000015.
//
ID   Ziegler-Huang syndrome.
AC   DI-06757
AR   ZHS.
DE   A form of bone marrow failure syndrome, a heterogeneous group of life-
DE   threatening disorders characterized by hematopoietic defects in
DE   association with a range of variable extra-hematopoietic
DE   manifestations. ZHS is an autosomal recessive form characterized by
DE   growth retardation, testicular hypoplasia, and bone marrow failure
DE   with thrombocytopenia and macrocytic anemia appearing in childhood.
SY   BMFS8.
SY   Bone marrow failure syndrome 8.
DR   MIM; 620501; phenotype.
DR   MedGen; CN372739.
DR   MeSH; D000080983.
//
ID   Zimmermann-Laband syndrome 1.
AC   DI-04477
AR   ZLS1.
DE   A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE   characterized by facial dysmorphism with bulbous nose and thick floppy
DE   ears, gingival enlargement, hypoplasia or aplasia of terminal
DE   phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE   hepatosplenomegaly. Some patients manifest intellectual disability
DE   with or without epilepsy. ZLS1 inheritance is autosomal dominant.
SY   Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly.
SY   Gingival fibromatosis, abnormal fingers, fingernails, nose and ears and splenomegaly.
SY   Laband syndrome.
SY   Zimmermann Laband syndrome.
DR   MIM; 135500; phenotype.
DR   MedGen; C0796013.
DR   MeSH; D000015.
//
ID   Zimmermann-Laband syndrome 2.
AC   DI-04478
AR   ZLS2.
DE   A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE   characterized by facial dysmorphism with bulbous nose and thick floppy
DE   ears, gingival enlargement, hypoplasia or aplasia of terminal
DE   phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE   hepatosplenomegaly. Some patients manifest intellectual disability
DE   with or without epilepsy. ZLS2 inheritance is autosomal dominant.
DR   MIM; 616455; phenotype.
DR   MedGen; CN231441.
DR   MeSH; D000015.
//
ID   Zimmermann-Laband syndrome 3.
AC   DI-05702
AR   ZLS3.
DE   A form of Zimmermann-Laband syndrome, a rare developmental disorder
DE   characterized by facial dysmorphism with bulbous nose and thick floppy
DE   ears, gingival enlargement, hypoplasia or aplasia of terminal
DE   phalanges and nails, hypertrichosis, joint hyperextensibility, and
DE   hepatosplenomegaly. Some patients manifest intellectual disability
DE   with or without epilepsy. ZLS3 inheritance is autosomal dominant.
DR   MIM; 618658; phenotype.
DR   MedGen; CN262700.
DR   MeSH; D000015.
//
ID   Zinc deficiency, transient neonatal.
AC   DI-03641
AR   TNZD.
DE   A disorder occurring in breast-fed infants as a consequence of low
DE   milk zinc concentration in their nursing mothers, which cannot be
DE   corrected by maternal zinc supplementation. A large amount of zinc, an
DE   essential trace mineral, is required for normal growth particularly in
DE   infants, and breast milk normally contains adequate zinc to meet the
DE   requirement for infants up to 4 to 6 months of age. Zinc deficiency
DE   can lead to dermatitis, alopecia, decreased growth, and impaired
DE   immune function. The disorder shows autosomal dominant inheritance
DE   with incomplete penetrance.
SY   Neonatal zinc deficiency due to low breast milk zinc.
DR   MIM; 608118; phenotype.
DR   MedGen; C1842485.
DR   MedGen; C1842486.
DR   MeSH; D008664.
//
ID   ZTTK syndrome.
AC   DI-04860
AR   ZTTKS.
DE   An autosomal dominant syndrome characterized by intellectual
DE   disability, developmental delay, malformations of the cerebral cortex,
DE   epilepsy, vision problems, musculo-skeletal abnormalities, and
DE   congenital malformations.
SY   Zhu-Tokita-Takenouchi-Kim syndrome.
DR   MIM; 617140; phenotype.
DR   MedGen; CN238690.
DR   MeSH; D000015.
DR   MeSH; D008607.
KW   KW-0991:Intellectual disability.
//
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