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humdisease.txt

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        UniProt Knowledgebase
        SIB Swiss Institute of Bioinformatics; Geneva, Switzerland
        European Bioinformatics Institute (EBI); Hinxton, United Kingdom
        Protein Information Resource (PIR); Washington DC, USA
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Description: Controlled vocabulary of human diseases
Name:        humdisease.txt
Release:     2014_11 of 26-Nov-2014

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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   MeSH; D020167.
DR   MeSH; D028361.
//
ID   2-aminoadipic 2-oxoadipic aciduria.
AC   DI-03673
AR   AMOXAD.
DE   A metabolic disorder characterized by increased levels of 2-oxoadipate
DE   and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the
DE   plasma. Patients can have mild to severe intellectual disability,
DE   muscular hypotonia, developmental delay, ataxia, and epilepsy. Most
DE   cases are asymptomatic.
DR   MIM; 204750; phenotype.
DR   MeSH; D000592.
//
ID   2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
AC   DI-00001
AR   MHBD deficiency.
DE   A disorder that leads to neurological abnormalities, including
DE   psychomotor retardation and, in virtually all patients, loss of mental
DE   and motor skills.
SY   3-hydroxyacyl-CoA dehydrogenase type 2 deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase type II deficiency.
SY   3-hydroxyacyl-CoA dehydrogenase type-2 deficiency.
DR   MIM; 300438; phenotype.
DR   MeSH; D020739.
//
ID   3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.
AC   DI-00002
AR   HADH deficiency.
DE   A metabolic disorder with various clinical presentations including
DE   hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in
DE   some cases sudden death.
SY   HAD deficiency.
SY   Hydroxyacyl-coenzyme A dehydrogenase deficiency.
SY   SCHAD deficiency.
DR   MIM; 231530; phenotype.
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   HMG-CoA lyase deficiency.
SY   HMGCL deficiency.
SY   Hydroxymethylglutaric aciduria.
SY   Hydroxymethylglutaricaciduria.
DR   MIM; 246450; phenotype.
DR   MeSH; D000592.
//
ID   3-ketothiolase deficiency.
AC   DI-00009
AR   3KTD.
DE   An inborn error of isoleucine catabolism characterized by intermittent
DE   ketoacidotic attacks associated with unconsciousness. Some patients
DE   die during an attack or are mentally retarded. Urinary excretion of 2-
DE   methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid,
DE   triglylglycine, butanone is increased. It seems likely that the
DE   severity of this disease correlates better with the environmental or
DE   acquired factors than with the ACAT1 genotype.
SY   Alpha-methylacetoaceticaciduria.
DR   MIM; 203750; phenotype.
DR   MeSH; D000592.
//
ID   3-methylglutaconic aciduria 1.
AC   DI-00004
AR   MGA1.
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. MGA1 can be
DE   distinguished from other forms of MGA 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 MGA 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   MGA type I.
DR   MIM; 250950; phenotype.
DR   MeSH; D000592.
//
ID   3-methylglutaconic aciduria 3.
AC   DI-00006
AR   MGA3.
DE   A metabolic disorder that causes a neuro-ophthalmologic syndrome
DE   consisting of early-onset bilateral optic atrophy, spasticity,
DE   extrapyramidal dysfunction and cognitive deficit. Urinary excretion of
DE   3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3
DE   can be distinguished from MGA1 by the absence of increase of 3-
DE   hydroxyisovaleric acid levels.
SY   3-alpha-methylglutaconic aciduria type 3.
SY   Costeff optic atrophy syndrome.
SY   Costeff syndrome.
SY   MGA type III.
SY   Optic atrophy 3 autosomal recessive.
SY   Optic atrophy plus syndrome.
DR   MIM; 258501; phenotype.
DR   MeSH; D015418.
//
ID   3-methylglutaconic aciduria 5.
AC   DI-00007
AR   MGA5.
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   MGA type V.
DR   MIM; 610198; phenotype.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
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.
DR   MIM; 614739; phenotype.
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   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   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   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   3MC syndrome 1.
AC   DI-03129
AR   3MC1.
DE   A disorder characterized by facial dysmorphism that includes
DE   hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE   eyebrows, cleft lip and/or palate, craniosynostosis, learning
DE   disability and genital, limb and vesicorenal anomalies. The term 3MC
DE   syndrome includes Carnevale, Mingarelli, Malpuech, and Michels
DE   syndromes.
SY   Craniosynostosis with lid anomalies.
SY   Michels syndrome.
SY   Oculopalatoskeletal syndrome.
DR   MIM; 257920; phenotype.
DR   MeSH; D003398.
DR   MeSH; D005141.
//
ID   3MC syndrome 2.
AC   DI-03130
AR   3MC2.
DE   A disorder characterized by facial dysmorphism that includes
DE   hypertelorism, blepharophimosis, blepharoptosis and highly arched
DE   eyebrows, cleft lip and/or palate, craniosynostosis, learning
DE   disability and genital, limb and vesicorenal anomalies. The term 3MC
DE   syndrome includes Carnevale, Mingarelli, Malpuech, and Michels
DE   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   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   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   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   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   MeSH; D058531.
//
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   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   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   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   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   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   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   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   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   MeSH; D014786.
//
ID   Aarskog-Scott syndrome.
AC   DI-00012
AR   AAS.
DE   A rare multisystemic disorder characterized by disproportionately
DE   short stature, and by facial, skeletal and urogenital anomalies. Some
DE   patients manifest mental retardation, attention deficit disorder and
DE   hyperactivity.
SY   Faciodigitogenital syndrome.
SY   Faciogenital dysplasia.
SY   Faciogenital dysplasia with attention deficit-hyperactivity disorder.
DR   MIM; 305400; phenotype.
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   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   MeSH; D024821.
KW   KW-0219:Diabetes mellitus.
KW   KW-0550:Obesity.
//
ID   Abdominal obesity-metabolic syndrome 4.
AC   DI-04219
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, insulin
DE   resistance, and elevated fasting glucose levels. AOMS4 patients have
DE   dyslipidemia, hepatic steatosis, systemic insulin resistance, and
DE   diabetes.
DR   MIM; 615980; phenotype.
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   MeSH; D000012.
//
ID   Abnormal thyroid hormone metabolism.
AC   DI-00015
AR   ATHYHM.
DE   A disorder associated with a reduction in type II iodothyronine
DE   deiodinase activity.
DR   MIM; 609698; phenotype.
DR   MeSH; D013959.
//
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   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.
SY   Acatalasia.
SY   Catalase deficiency.
SY   Takahara disease.
SY   Takahara's disease.
DR   MIM; 614097; phenotype.
DR   MeSH; D020642.
//
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   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   ACAC deficiency.
SY   ACACA deficiency.
SY   ACC deficiency.
SY   ACC1 deficiency.
DR   MIM; 613933; phenotype.
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 syndrome.
SY   Allgrove's syndrome.
SY   Glucocorticoid deficiency and achalasia.
SY   Hypoadrenalism with achalasia.
SY   Triple-A syndrome.
DR   MIM; 231550; phenotype.
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   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   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.
SY   ACG-IB.
SY   Achondrogenesis Fraccaro type.
SY   Achondrogenesis type IB.
SY   Fraccaro achondrogenesis.
DR   MIM; 600972; phenotype.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Achondrogenesis 2.
AC   DI-00020
AR   ACG2.
DE   A disease characterized by the absence of ossification in the
DE   vertebral column, sacrum and pubic bones.
SY   ACG-II.
SY   Achondrogenesis Langer-Saldino type.
SY   Achondrogenesis type II.
SY   Achondrogenesis-hypochondrogenesis type II.
DR   MIM; 200610; phenotype.
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.
DR   MIM; 100800; phenotype.
DR   MeSH; D000130.
KW   KW-0242:Dwarfism.
//
ID   Achromatopsia 2.
AC   DI-00022
AR   ACHM2.
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.
SY   Complete achromatopsia.
SY   RMCH2.
SY   Rod monochromacy 2.
SY   Rod monochromatism 2.
SY   Total colorblindness.
DR   MIM; 216900; phenotype.
DR   MeSH; D003117.
//
ID   Achromatopsia 3.
AC   DI-00023
AR   ACHM3.
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.
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   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   MeSH; D003117.
//
ID   Acid phosphatase deficiency.
AC   DI-00024
AR   ACPHD.
DE   A disorder characterized by intermittent vomiting, hypotonia,
DE   lethargy, opisthotonos, terminal bleeding and death in early infancy.
DE   Lysosomal acid phosphatase is deficient in cultured fibroblasts and
DE   multiple tissues.
DR   MIM; 200950; phenotype.
DR   MeSH; D008661.
//
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   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   MeSH; D017497.
//
ID   Acne inversa, familial, 2.
AC   DI-02996
AR   ACNINV2.
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; 613736; phenotype.
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   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.
DR   MIM; 103285; phenotype.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Acrocallosal syndrome.
AC   DI-00025
AR   ACLS.
DE   A syndrome characterized by hypogenesis or agenesis of the corpus
DE   callosum. Clinical features include postaxial polydactyly, hallux
DE   duplication, macrocephaly, craniofacial abnormalities, severe
DE   developmental delay and mental retardation.
SY   Hallux duplication postaxial polydactyly and absence of corpus callosum.
SY   Schinzel acrocallosal syndrome.
DR   MIM; 200990; phenotype.
DR   MeSH; D055673.
KW   KW-1186:Ciliopathy.
//
ID   Acrocapitofemoral dysplasia.
AC   DI-00026
AR   ACFD.
DE   A disorder characterized by short stature of variable severity with
DE   postnatal onset. The most constant radiographic abnormalities are
DE   observed in the tubular bones of the hands and in the proximal part of
DE   the femur. Cone-shaped epiphyses or a similar epiphyseal configuration
DE   with premature epimetaphyseal fusion result in shortening of the
DE   skeletal components involved. Cone-shaped epiphyses are also present
DE   to a variable extent at the shoulders, knees and ankles.
DR   MIM; 607778; phenotype.
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   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   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   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   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   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   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   MeSH; D000013.
//
ID   Acromesomelic chondrodysplasia, Grebe type.
AC   DI-00031
AR   AMDG.
DE   An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic
DE   chondrodysplasias are rare hereditary skeletal disorders 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). AMDG is characterized by
DE   normal axial skeletons and missing or fused skeletal elements within
DE   the hands and feet.
DR   MIM; 200700; phenotype.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic chondrodysplasia, Hunter-Thompson type.
AC   DI-00032
AR   AMDH.
DE   An autosomal recessive form of dwarfism. Patients have limb
DE   abnormalities, with the middle and distal segments being most affected
DE   and the lower limbs more affected than the upper. AMDH is
DE   characterized by normal axial skeletons and missing or fused skeletal
DE   elements within the hands and feet.
DR   MIM; 201250; phenotype.
DR   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic chondrodysplasia, with genital anomalies.
AC   DI-00033
AR   AMDGA.
DE   A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare
DE   hereditary skeletal disorders characterized by short stature, very
DE   short limbs and hand/foot malformations. The severity of limb
DE   abnormalities increases from proximal to distal with profoundly
DE   affected hands and feet showing brachydactyly and/or rudimentary
DE   fingers (knob-like fingers).
DR   MIM; 609441; phenotype.
DR   MeSH; D004392.
DR   MeSH; D010009.
KW   KW-0242:Dwarfism.
//
ID   Acromesomelic dysplasia, Maroteaux type.
AC   DI-00034
AR   AMDM.
DE   An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic
DE   chondrodysplasias are rare hereditary skeletal disorders 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). AMDM is characterized by
DE   axial skeletal involvement with wedging of vertebral bodies. In AMDM
DE   all skeletal elements are present but show abnormal rates of linear
DE   growth.
DR   MIM; 602875; phenotype.
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   MeSH; D001848.
KW   KW-0242:Dwarfism.
//
ID   ACTH deficiency, isolated.
AC   DI-00035
AR   IAD.
DE   A disorder that is characterized by adrenal insufficiency symptoms,
DE   such as weight loss, lack of appetite (anorexia), weakness, nausea,
DE   vomiting and low blood pressure (hypotension). The pituitary hormone
DE   ACTH is decreased or absent, and other cortisol and other steroid
DE   hormone levels in the blood are abnormally low.
SY   Adrenocorticotropic hormone deficiency.
DR   MIM; 201400; phenotype.
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   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   MeSH; D003480.
KW   KW-1062:Cushing syndrome.
//
ID   ACTH-secreting pituitary adenoma.
AC   DI-01168
AR   ASPA.
DE   A pituitary adenoma resulting in excessive production of
DE   adrenocorticotropic hormone. This leads to hypersecretion of cortisol
DE   by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical
DE   manifestations of Cushing syndrome include facial and truncal obesity,
DE   abdominal striae, muscular weakness, osteoporosis, arterial
DE   hypertension, diabetes.
SY   Cushing disease.
SY   Pituitary Cushing disease.
DR   MIM; 219090; phenotype.
DR   MeSH; D049913.
KW   KW-1062:Cushing syndrome.
//
ID   Activated PI3K-delta syndrome.
AC   DI-03995
AR   APDS.
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   IMD14.
SY   Immunodeficiency 14.
SY   p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.
SY   PASLI.
DR   MIM; 615513; phenotype.
DR   MeSH; D007153.
//
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   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   UPS deficiency.
SY   Uroporphyrinogen synthase deficiency.
DR   MIM; 176000; phenotype.
DR   MeSH; D017118.
//
ID   Acyl-CoA dehydrogenase family, member 9, deficiency.
AC   DI-01173
AR   ACAD9 deficiency.
DE   A metabolic disorder with variable manifestations that include dilated
DE   cardiomyopathy, liver failure, muscle weakness, neurologic
DE   dysfunction, hypoglycemia and Reye-like episodes (brain edema and
DE   vomiting that may rapidly progress to seizures, coma and death).
DR   MIM; 611126; phenotype.
DR   MeSH; D008661.
//
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   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   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   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   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   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   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   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   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   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   MeSH; D008659.
//
ID   Adenylosuccinase deficiency.
AC   DI-00040
AR   ADSL deficiency.
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.
DR   MIM; 103050; phenotype.
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   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   MeSH; D015845.
//
ID   Adiponectin deficiency.
AC   DI-00041
AR   ADPND.
DE   A condition that results in very low concentrations of plasma
DE   adiponectin.
DR   MIM; 612556; phenotype.
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   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 type II.
SY   AH-II.
SY   Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency.
DR   MIM; 201810; phenotype.
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   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   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   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
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   MeSH; D047808.
//
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   MeSH; D018268.
//
ID   Adrenocortical insufficiency, without ovarian defect.
AC   DI-00047
AR   ACIWOD.
DE   A disorder that is characterized by severe 'slackness,' muscular
DE   hypotonia. There is decreased sodium, increased potassium and elevated
DE   ACTH.
DR   MIM; 184757; gene+phenotype.
DR   MeSH; D000309.
//
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   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 mental retardation,
DE   leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-
DE   NALD is characterized by increased plasma levels of very-long chain
DE   fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase
DE   activity. Peroxisomes are intact and functioning.
SY   Peroxisomal acyl-CoA oxidase deficiency.
DR   MIM; 264470; phenotype.
DR   MeSH; D000326.
//
ID   Adult polyglucosan body disease.
AC   DI-00052
AR   APBD.
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 APBD is the widespread accumulation
DE   of round, intracellular polyglucosan bodies throughout the nervous
DE   system, which are confined to neuronal and astrocytic processes.
DR   MIM; 263570; phenotype.
DR   MeSH; D009422.
//
ID   Adult-onset vitelliform macular dystrophy.
AC   DI-00051
AR   AVMD.
DE   A rare autosomal dominant disorder with incomplete penetrance and
DE   highly variable expression. Patients usually become symptomatic in the
DE   fourth or fifth decade of life with a protracted disease of decreased
DE   visual acuity.
SY   Adult-onset foveomacular dystrophy.
SY   AOFMD.
DR   MIM; 608161; phenotype.
DR   MeSH; D057826.
//
ID   Advanced sleep phase syndrome, familial, 1.
AC   DI-01548
AR   FASPS1.
DE   A disorder characterized by very early sleep onset and offset.
DE   Individuals are 'morning larks' with a 4 hours advance of the sleep,
DE   temperature and melatonin rhythms.
DR   MIM; 604348; phenotype.
DR   MeSH; D020178.
//
ID   Advanced sleep phase syndrome, familial, 2.
AC   DI-03718
AR   FASPS2.
DE   A disorder characterized by very early sleep onset and offset.
DE   Individuals are 'morning larks' with a 4 hours advance of the sleep,
DE   temperature and melatonin rhythms.
DR   MIM; 615224; phenotype.
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   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   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   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   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   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   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   MeSH; D000361.
//
ID   Agenesis of the corpus callosum, with abnormal genitalia.
AC   DI-01175
AR   ACCAG.
DE   A X-linked syndrome with variable expression in females. It is
DE   characterized by agenesis of corpus callosum, mental retardation and
DE   seizures. Manifestations in surviving males include severe acquired
DE   micrencephaly, mental retardation, limb contractures, scoliosis,
DE   tapered fingers with hyperconvex nails, a characteristic face with
DE   large eyes, prominent supraorbital ridges, synophrys, optic atrophy,
DE   broad alveolar ridges, and seizures. Urologic anomalies include renal
DE   dysplasia, cryptorchidism, and hypospadias.
SY   ACC with abnormal genitalia.
SY   Micrencephaly-corpus callosum agenesis-abnormal genitalia.
SY   Proud syndrome.
SY   Proud-Levine-Carpenter syndrome.
DR   MIM; 300004; phenotype.
DR   MeSH; D009421.
//
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, mental retardation, dysmorphic features and complete or
DE   partial agenesis of the corpus callosum.
SY   Andermann syndrome.
SY   Andermann's syndrome.
SY   Charlevoix disease.
DR   MIM; 218000; phenotype.
DR   MeSH; D009421.
//
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, mental retardation,
DE   seizures and spasticity. Other features include microcephaly, unusual
DE   facies, and Hirschsprung disease in some patients.
DR   MIM; 304100; phenotype.
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   MeSH; D007569.
DR   MeSH; D016142.
//
ID   AICAR transformylase/IMP cyclohydrolase 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. AICAR causes profound mental retardation, epilepsy,
DE   dysmorphic features and congenital blindness.
SY   AICA-ribosiduria.
SY   AICA-ribosuria.
SY   AICA-ribosuria due to ATIC deficiency.
DR   MIM; 608688; phenotype.
DR   MeSH; D011686.
//
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   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   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   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   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   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   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   MeSH; D009421.
DR   MeSH; D020274.
KW   KW-0948:Aicardi-Goutieres syndrome.
//
ID   Alacrima, achalasia, and mental retardation syndrome.
AC   DI-03937
AR   AAMR.
DE   An autosomal recessive disorder characterized by onset of alacrima,
DE   achalasia, and mental retardation at birth or in early infancy. More
DE   variable features include hypotonia, gait abnormalities, anisocoria,
DE   and visual or hearing deficits. The disorder shows similarity to the
DE   triple A syndrome, but patients with AAMR do not have adrenal
DE   insufficiency.
DR   MIM; 615510; phenotype.
DR   MeSH; D004931.
DR   MeSH; D007766.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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   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   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   MeSH; D004392.
DR   MeSH; D008607.
KW   KW-0242:Dwarfism.
KW   KW-0991:Mental retardation.
//
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   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   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 I temperature-sensitive.
SY   Oculocutaneous albinism type IB.
SY   Yellow albinism.
DR   MIM; 606952; phenotype.
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   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   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   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   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   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.
//
ID   Alexander disease.
AC   DI-00074
AR   ALEXD.
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   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   MeSH; D000474.
//
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   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   MeSH; D000505.
//
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 mental retardation, 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   MeSH; D000505.
DR   MeSH; D004700.
DR   MeSH; D009422.
KW   KW-0991:Mental retardation.
//
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   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   MeSH; D006474.
//
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   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   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   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   MeSH; D017085.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Alpha-thalassemia mental retardation 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   Alpha-thalassemia/mental retardation syndrome non-deletion type x-linked.
SY   ATR nondeletion type.
SY   ATR-X.
SY   ATR-X syndrome.
DR   MIM; 301040; phenotype.
DR   MeSH; D038901.
KW   KW-0991:Mental retardation.
//
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   MeSH; D009190.
DR   MeSH; D017085.
//
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   MeSH; D008231.
DR   MeSH; D015551.
//
ID   Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis.
AC   DI-01183
AR   ATS-MR.
DE   A X-linked contiguous gene deletion syndrome characterized by
DE   glomerulonephritis, sensorineural hearing loss, mental retardation,
DE   midface hypoplasia and elliptocytosis.
SY   AMME complex.
DR   MIM; 300194; phenotype.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
KW   KW-0250:Elliptocytosis.
KW   KW-0991:Mental retardation.
//
ID   Alport syndrome, autosomal dominant.
AC   DI-02831
AR   APSAD.
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.
SY   Nephritis-deafness syndrome.
SY   Nephropathy and deafness.
DR   MIM; 104200; phenotype.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alport syndrome, autosomal recessive.
AC   DI-00080
AR   APSAR.
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.
SY   Nephritis-deafness syndrome.
SY   Nephropathy and deafness.
DR   MIM; 203780; phenotype.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alport syndrome, with macrothrombocytopenia.
AC   DI-00081
AR   APSM.
DE   An autosomal dominant disorder characterized by the association of
DE   ocular lesions, sensorineural hearing loss and nephritis (Alport
DE   syndrome) with platelet defects.
SY   Epstein syndrome.
SY   Macrothrombocytopathy, nephritis and deafness.
DR   MIM; 153650; phenotype.
DR   MeSH; D009394.
KW   KW-0023:Alport syndrome.
KW   KW-0209:Deafness.
//
ID   Alport syndrome, X-linked.
AC   DI-00082
AR   APSX.
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.
SY   Nephropathy and deafness.
DR   MIM; 301050; phenotype.
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   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   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   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   MeSH; D010547.
//
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   constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42
DE   peptide (s), derived proteolytically from the transmembrane precursor
DE   protein APP by sequential secretase processing. The cytotoxic C-
DE   terminal fragments (CTFs) and the caspase-cleaved products such as C31
DE   derived from APP, are also implicated in neuronal death.
SY   Presenile and senile dementia.
DR   MIM; 104300; phenotype.
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 familial early-onset form of Alzheimer disease. It can be associated
DE   with cerebral amyloid angiopathy. 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 constituent of these
DE   plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived
DE   proteolytically from the transmembrane precursor protein APP by
DE   sequential secretase processing. The cytotoxic C-terminal fragments
DE   (CTFs) and the caspase-cleaved products such as C31 derived from APP,
DE   are also implicated in neuronal death.
SY   Autosomal dominant Alzheimer disease.
SY   Early-onset Alzheimer disease with cerebral amyloid angiopathy.
DR   MIM; 104300; phenotype.
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, 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 constituent of these plaques is the
DE   neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically
DE   from the transmembrane precursor protein APP by sequential secretase
DE   processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-
DE   cleaved products such as C31 derived from APP, are also implicated in
DE   neuronal death.
SY   Alzheimer disease 18 late-onset.
DR   MIM; 615590; phenotype.
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, 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 constituent of these plaques is the
DE   neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically
DE   from the transmembrane precursor protein APP by sequential secretase
DE   processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-
DE   cleaved products such as C31 derived from APP, are also implicated in
DE   neuronal death.
SY   Late-onset Alzheimer disease.
DR   MIM; 615711; phenotype.
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 neurodegenerative disorder characterized by progressive
DE   dementia, loss of cognitive abilities, and deposition of fibrillar
DE   amyloid proteins as intraneuronal neurofibrillary tangles,
DE   extracellular amyloid plaques and vascular amyloid deposits. The major
DE   constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42
DE   peptide (s), derived proteolytically from the transmembrane precursor
DE   protein APP by sequential secretase processing. The cytotoxic C-
DE   terminal fragments (CTFs) and the caspase-cleaved products such as C31
DE   derived from APP, are also implicated in neuronal death.
SY   Alzheimer disease associated with APOE4.
SY   Late-onset Alzheimer disease.
DR   MIM; 104310; phenotype.
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 constituent
DE   of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s),
DE   derived proteolytically from the transmembrane precursor protein APP
DE   by sequential secretase processing. The cytotoxic C-terminal fragments
DE   (CTFs) and the caspase-cleaved products such as C31 derived from APP,
DE   are also implicated in 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   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 constituent
DE   of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s),
DE   derived proteolytically from the transmembrane precursor protein APP
DE   by sequential secretase processing. The cytotoxic C-terminal fragments
DE   (CTFs) and the caspase-cleaved products such as C31 derived from APP,
DE   are also implicated in neuronal death.
DR   MIM; 606889; phenotype.
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   constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42
DE   peptide (s), derived proteolytically from the transmembrane precursor
DE   protein APP by sequential secretase processing. The cytotoxic C-
DE   terminal fragments (CTFs) and the caspase-cleaved products such as C31
DE   derived from APP, are also implicated in neuronal death.
DR   MIM; 502500; phenotype.
DR   MeSH; D000544.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-1008:Amyloidosis.
//
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   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   MeSH; D000567.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 1E.
AC   DI-00088
AR   AI1E.
DE   A 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 hypomaturation type with snow-capped teeth.
SY   Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1.
SY   Amelogenesis imperfecta type IE.
SY   Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E.
SY   Enamel hypoplasia X-linked.
SY   X-linked amelogenesis imperfecta.
SY   XAI.
DR   MIM; 301200; phenotype.
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 syndrome.
SY   Enamel-renal-gingival syndrome.
SY   ERS.
SY   Hypoplastic amelogenesis imperfecta with nephrocalcinosis.
DR   MIM; 204690; phenotype.
DR   MeSH; D000567.
DR   MeSH; D005351.
KW   KW-0986:Amelogenesis imperfecta.
//
ID   Amelogenesis imperfecta 3.
AC   DI-00093
AR   AI3.
DE   An autosomal dominant hypomineralized form of amelogenesis imperfecta,
DE   a defect of enamel formation. AI3 is characterized by enamel of normal
DE   thickness but soft and with cheesy consistency. Enamel is lost from
DE   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   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   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   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   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   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   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   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   MeSH; D000592.
//
ID   Amish infantile epilepsy syndrome.
AC   DI-00096
AR   AIES.
DE   An autosomal recessive, infantile-onset symptomatic epilepsy
DE   associated with developmental stagnation and blindness.
SY   Epilepsy syndrome infantile-onset symptomatic.
SY   GM3 synthase deficiency.
SY   Salt and pepper mental retardation syndrome.
DR   MIM; 609056; phenotype.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
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 amyloid polyneuropathy type IV.
SY   Familial amyloidosis Finnish type.
SY   Finnish type amyloidosis.
SY   Gelsolin amyloidosis.
SY   Lattice corneal dystrophy type II.
SY   Meretoja type amyloidosis.
DR   MIM; 105120; phenotype.
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   HCHWA-I.
SY   HCHWAI.
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   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Amyloidosis 8.
AC   DI-00104
AR   AMYL8.
DE   A hereditary generalized amyloidosis due to deposition of
DE   apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are
DE   particularly affected. There is no involvement of the nervous system.
DE   Clinical features include renal amyloidosis resulting in nephrotic
DE   syndrome, arterial hypertension, hepatosplenomegaly, cholestasis,
DE   petechial skin rash.
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   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   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   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   Amyloid polyneuropathy.
SY   Amyloidosis I.
SY   Amyloidosis Ohio type.
SY   Amyloidosis type 7.
SY   Amyloidosis VII.
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 amyloid polyneuropathy.
SY   Transthyretin amyloidosis.
SY   TTR amyloid neuropathy.
DR   MIM; 105210; phenotype.
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   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   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   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   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 12.
AC   DI-02705
AR   ALS12.
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; 613435; phenotype.
DR   MeSH; D000690.
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   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.
AC   DI-03119
AR   ALS14.
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 ALS14 may develop frontotemporal dementia.
DR   MIM; 613954; phenotype.
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   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   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 17.
AC   DI-03488
AR   ALS17.
DE   An adult-onset progressive neurodegenerative disorder with
DE   predominantly lower motor neuron involvement, manifest as muscle
DE   weakness and wasting of the upper and lower limbs, bulbar signs, and
DE   respiratory insufficiency.
SY   Amyotrophic lateral sclerosis CHMP2B-related.
DR   MIM; 614696; phenotype.
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   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   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   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   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   VCPDM.
SY   Vocal cord and pharyngeal dysfunction with distal myopathy.
DR   MIM; 606070; phenotype.
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   MeSH; D000690.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Amyotrophic lateral sclerosis 6.
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   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   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   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   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   MeSH; D034141.
//
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   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   Reifenstein syndrome.
DR   MIM; 312300; phenotype.
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   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   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   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   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   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   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   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   MeSH; D000746.
KW   KW-0360:Hereditary hemolytic anemia.
//
ID   Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.
AC   DI-00119
AR   PRARSA.
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.
DR   MIM; 205950; phenotype.
DR   MeSH; D000756.
//
ID   Anemia, sideroblastic, spinocerebellar ataxia.
AC   DI-02459
AR   ASAT.
DE   A 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   MeSH; D000756.
DR   MeSH; D020754.
//
ID   Anemia, sideroblastic, X-linked.
AC   DI-00120
AR   XLSA.
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   ANH1.
SY   Hereditary iron-loading anemia.
SY   Hereditary sideroblastic anemia.
SY   Hypochromic anemia.
DR   MIM; 300751; phenotype.
DR   MeSH; D000747.
DR   MeSH; D000756.
//
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   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   MeSH; D000799.
DR   MeSH; D064420.
//
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   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   MeSH; D001796.
//
ID   Aniridia.
AC   DI-01184
AR   AN.
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   AN2.
SY   Aniridia type II.
DR   MIM; 106210; phenotype.
DR   MeSH; D015783.
//
ID   Aniridia, cerebellar ataxia and mental deficiency.
AC   DI-01661
AR   ACAMD.
DE   A rare condition consisting of partial rudimentary iris, cerebellar
DE   impairment of the ability to perform coordinated voluntary movements,
DE   and mental retardation.
SY   Gillespie syndrome.
DR   MIM; 206700; phenotype.
DR   MeSH; D002524.
KW   KW-0991:Mental retardation.
//
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   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
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   MeSH; D005124.
//
ID   Anterior segment mesenchymal dysgenesis.
AC   DI-00123
AR   ASMD.
DE   A range of developmental defects in structures at the front of the
DE   eye, resulting from abnormal migration or differentiation of the
DE   neural crest derived mesenchymal cells that give rise to the cornea,
DE   iris, and other components of the anterior chamber during eye
DE   development. Different mature anterior segment anomalies may exist
DE   alone or in combination, and are associated with an increased risk of
DE   glaucoma and corneal opacity. Conditions falling within the phenotypic
DE   spectrum of anterior segment anomalies include aniridia, posterior
DE   embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters
DE   anomaly, and iridogoniodysgenesis.
SY   Anterior segment ocular dysgenesis.
SY   ASOD.
SY   Familial ocular anterior segment mesenchymal dysgenesis.
DR   MIM; 107250; phenotype.
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   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   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   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   MeSH; D017544.
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   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   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   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   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   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   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   ACS I.
SY   ACS1.
DR   MIM; 101200; phenotype.
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   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies.
AC   DI-03628
AR   APLCC.
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.
DR   MIM; 300887; phenotype.
DR   MeSH; D000015.
//
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.
DR   MIM; 180920; phenotype.
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   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   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   MeSH; D043204.
//
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, mental retardation, hypotonia, ataxia and progressive
DE   spastic quadriplegia.
SY   ARG1 deficiency.
SY   Arginase deficiency.
SY   Arginase-1 deficiency.
SY   Hyperargininemia.
DR   MIM; 207800; phenotype.
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   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   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   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   MeSH; D000592.
//
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   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   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   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   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   MeSH; D019571.
KW   KW-0122:Cardiomyopathy.
//
ID   Arrhythmogenic right ventricular dysplasia, familial, 2.
AC   DI-01550
AR   ARVD2.
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 2.
SY   ARVC2.
DR   MIM; 600996; 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   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   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   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   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   MeSH; D061205.
//
ID   Arterial tortuosity syndrome.
AC   DI-01190
AR   ATS.
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   MeSH; D003240.
DR   MeSH; D014652.
//
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   AMCD1.
SY   Arthrogryposis multiplex congenita distal type 1.
DR   MIM; 108120; phenotype.
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   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 an 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   MeSH; D001176.
//
ID   Arthrogryposis, distal, 2B.
AC   DI-01493
AR   DA2B.
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.
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   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   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   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   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   MeSH; D001176.
//
ID   Arthrogryposis, distal, 9.
AC   DI-01397
AR   DA9.
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. DA9
DE   is a connective tissue disorder characterized by contractures,
DE   arachnodactyly, scoliosis, and crumpled ears.
SY   Beals syndrome.
SY   CCA.
SY   Congenital contractural arachnodactyly.
DR   MIM; 121050; phenotype.
DR   MeSH; D001176.
//
ID   Arthrogryposis, mental retardation, and seizures.
AC   DI-03977
AR   AMRS.
DE   A disease characterized by arthrogryposis, mental retardation, autism
DE   spectrum disorder, and epilepsy. Additional features include limb
DE   malformations, distal joint involvement, microcephaly,
DE   retromicrognathia, and general muscle hypotonia.
DR   MIM; 615553; phenotype.
DR   MeSH; D001176.
DR   MeSH; D008607.
DR   MeSH; D012640.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
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   ARC syndrome.
SY   ARCS.
SY   Arthrogryposis renal dysfunction and cholestasis 1.
DR   MIM; 208085; phenotype.
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   MeSH; D001176.
DR   MeSH; D002779.
DR   MeSH; D051437.
//
ID   ARTS syndrome.
AC   DI-01191
AR   ARTS.
DE   A disorder characterized by mental retardation, early-onset hypotonia,
DE   ataxia, delayed motor development, hearing impairment, and optic
DE   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.
SY   X-linked syndromic mental retardation 18.
SY   X-linked syndromic mental retardation ARTS type.
DR   MIM; 301835; phenotype.
DR   MeSH; D038901.
KW   KW-0209:Deafness.
KW   KW-0991:Mental retardation.
//
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   MeSH; D000592.
KW   KW-0991:Mental retardation.
//
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 mental retardation
DE   manifesting from the age of two, coarse facial features and mild
DE   connective tissue abnormalities.
SY   AGA deficiency.
SY   Aspartylglucosaminidase deficiency.
SY   Aspartylglycosaminuria.
SY   Glycosylasparaginase deficiency.
DR   MIM; 208400; phenotype.
DR   MeSH; D054880.
//
ID   Asperger syndrome, X-linked, 1.
AC   DI-02429
AR   ASPGX1.
DE   A syndrome with features similar to autism. Affected individuals
DE   exhibit qualitative impairment in social interaction, as manifest by
DE   impairment in the use of non-verbal behaviors such as eye-to-eye gaze,
DE   facial expression, body postures, and gestures, failure to develop
DE   appropriate peer relationships, and lack of social sharing or
DE   reciprocity. Patients also exhibit restricted, repetitive and
DE   stereotyped patterns of behavior, interests, and activities, including
DE   abnormal preoccupation with certain activities and inflexible
DE   adherence to routines or rituals. Asperger syndrome is primarily
DE   distinguished from autism by the higher cognitive abilities and a more
DE   normal and timely development of language and communicative phrases.
DR   MIM; 300494; phenotype.
DR   MeSH; D020817.
//
ID   Asperger syndrome, X-linked, 2.
AC   DI-02430
AR   ASPGX2.
DE   A syndrome with features similar to autism. Affected individuals
DE   exhibit qualitative impairment in social interaction, as manifest by
DE   impairment in the use of non-verbal behaviors such as eye-to-eye gaze,
DE   facial expression, body postures, and gestures, failure to develop
DE   appropriate peer relationships, and lack of social sharing or
DE   reciprocity. Patients also exhibit restricted, repetitive and
DE   stereotyped patterns of behavior, interests, and activities, including
DE   abnormal preoccupation with certain activities and inflexible
DE   adherence to routines or rituals. Asperger syndrome is primarily
DE   distinguished from autism by the higher cognitive abilities and a more
DE   normal and timely development of language and communicative phrases.
DR   MIM; 300497; phenotype.
DR   MeSH; D020817.
//
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   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   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   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   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   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   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   MeSH; D001249.
KW   KW-1058:Asthma.
//
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   MeSH; D001260.
KW   KW-0523:Neurodegeneration.
//
ID   Ataxia with isolated 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   MeSH; D014811.
//
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   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   MeSH; D013132.
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   MeSH; D013132.
KW   KW-0523:Neurodegeneration.
//
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   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   MeSH; D001259.
DR   MeSH; D049914.
KW   KW-0209:Deafness.
KW   KW-0242:Dwarfism.
KW   KW-0523:Neurodegeneration.
//
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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D004694.
//
ID   Atrioventricular septal defect 3.
AC   DI-03196
AR   AVSD3.
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; 600309; phenotype.
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   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   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   MeSH; D001289.
//
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.
SY   Nonsyndromic auditory neuropathy autosomal dominant.
SY   NSDAN.
DR   MIM; 609129; phenotype.
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   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.
DR   MIM; 607842; phenotype.
DR   MeSH; D006314.
//
ID   Auriculocondylar syndrome 1.
AC   DI-03467
AR   ARCND1.
DE   An autosomal dominant craniofacial malformation syndrome characterized
DE   by variable mandibular anomalies, including mild to severe
DE   micrognathia, temporomandibular joint ankylosis, cleft palate, and a
DE   characteristic ear malformation that consists of separation of the
DE   lobule from the external ear, giving the appearance of a question mark
DE   (question-mark ear). Other frequently described features include
DE   prominent cheeks, cupped and posteriorly rotated ears, preauricular
DE   tags, and microstomia.
SY   ACS.
SY   Dysgnathia complex.
SY   Question mark ears syndrome.
DR   MIM; 602483; phenotype.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 2.
AC   DI-03468
AR   ARCND2.
DE   A 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.
DR   MIM; 614669; phenotype.
DR   MeSH; D004427.
DR   MeSH; D018640.
//
ID   Auriculocondylar syndrome 3.
AC   DI-04052
AR   ARCND3.
DE   A 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.
DR   MIM; 615706; phenotype.
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 mental
DE   retardation.
DR   MIM; 612100; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation. AUTS16 can be associated with epilepsy.
SY   Autism with or without seizures.
DR   MIM; 613410; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 613436; phenotype.
DR   MeSH; D001321.
//
ID   Autism 18.
AC   DI-03675
AR   AUTS18.
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 mental
DE   retardation.
DR   MIM; 615032; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 615091; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 300425; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 300495; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 300496; phenotype.
DR   MeSH; D001321.
//
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 mental
DE   retardation.
DR   MIM; 300847; phenotype.
DR   MeSH; D001321.
//
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   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   MeSH; D001327.
//
ID   Autoimmune disease, multisystem, infantile-onset.
AC   DI-04194
AR   ADMIO.
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   MeSH; D001327.
KW   KW-0219:Diabetes mellitus.
KW   KW-0242:Dwarfism.
//
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   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   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   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   Autoimmune lymphoproliferative syndrome type IIA.
DR   MIM; 603909; phenotype.
DR   MeSH; D056735.
//
ID   Autoimmune lymphoproliferative syndrome 4.
AC   DI-03381
AR   ALPS4.
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.
DR   MIM; 614470; phenotype.
DR   MeSH; D056735.
//
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 syndrome type I.
SY   Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
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   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   MeSH; D006111.
DR   MeSH; D013959.
DR   MeSH; D013967.
//
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   MeSH; D004760.
DR   MeSH; D056660.
//
ID   Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated.
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   MeSH; D007153.
//
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   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 or without cardiac defects and/or sensorineural hearing loss.
SY   Rieger anomaly.
SY   Rieger syndrome type 3.
DR   MIM; 602482; phenotype.
DR   MeSH; D005124.
DR   MeSH; D006319.
DR   MeSH; D006330.
KW   KW-0209:Deafness.
//
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   MeSH; D000015.
//
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 with radial defects.
SY   Craniosynostosis-radial aplasia syndrome.
DR   MIM; 218600; phenotype.
DR   MeSH; D003398.
KW   KW-0242:Dwarfism.
KW   KW-0989:Craniosynostosis.
//
ID   Bamforth-Lazarus syndrome.
AC   DI-01267
AR   BLS.
DE   A disease characterized by thyroid agenesis, cleft palate and choanal
DE   atresia.
SY   Athyroidal hypothyroidism with spiky hair and cleft palate.
DR   MIM; 241850; phenotype.
DR   MeSH; D002972.
DR   MeSH; D006201.
DR   MeSH; D007037.
//
ID   Band-like calcification with simplified gyration and polymicrogyria.
AC   DI-02925
AR   BLCPMG.
DE   A neurologic disorder with characteristic clinical and neuroradiologic
DE   features that mimic intrauterine TORCH infection in the absence of
DE   evidence of infection. Affected individuals have congenital
DE   microcephaly, intracranial calcifications, and severe developmental
DE   delay.
SY   Baraitser Brett Piesowicz syndrome.
SY   Pseudo-TORCH syndrome.
DR   MIM; 251290; phenotype.
DR   MeSH; D002114.
DR   MeSH; D054220.
//
ID   Bannayan-Riley-Ruvalcaba syndrome.
AC   DI-01268
AR   BRRS.
DE   A rare hamartomatous disorder characterized by macrocephaly and
DE   multiple hemangiomas as well as subcutaneous and visceral lipomas. It
DE   belongs to the family of hamartomatous polyposis syndromes that
DE   includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden
DE   syndrome.
SY   Bannayan-Ruvalcaba-Riley syndrome.
SY   Bannayan-Zonana syndrome.
SY   BZS.
SY   Macrocephaly multiple lipomas and hemangiomata.
SY   Macrocephaly pseudopapilledema and multiple hemangiomata.
SY   PHTS.
SY   PTEN hamartoma tumor syndrome.
SY   Riley-Smith syndrome.
SY   RMSS.
SY   Ruvalcaba-Myhre-Smith syndrome.
DR   MIM; 153480; phenotype.
DR   MeSH; D006223.
//
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   Iris coloboma with ptosis hypertelorism and mental retardation.
DR   MIM; 243310; phenotype.
DR   MeSH; D001763.
DR   MeSH; D003103.
DR   MeSH; D006972.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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   MeSH; D001763.
DR   MeSH; D003103.
DR   MeSH; D006972.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
SY   Laurence-Moon-Bardet-Biedl Syndrome.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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 mental retardation. Secondary features include diabetes mellitus,
DE   hypertension and congenital heart disease. Bardet-Biedl syndrome
DE   inheritance is autosomal recessive, but three mutated alleles (two at
DE   one locus, and a third at a second locus) may be required for clinical
DE   manifestation of some forms of the disease.
DR   MIM; 209900; phenotype.
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   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   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   MeSH; D001471.
//
ID   Bart-Pumphrey syndrome.
AC   DI-00172
AR   BPS.
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-sensorineural deafness.
DR   MIM; 149200; phenotype.
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 with neutropenia and abnormal mitochondria.
SY   Cardioskeletal myopathy-neutropenia.
SY   INVM.
SY   Left ventricular non-compaction isolated X-linked.
SY   MGA type II.
SY   MGA2.
SY   Non-compaction of left ventricular myocardium isolated X-linked.
DR   MIM; 302060; phenotype.
DR   MeSH; D056889.
KW   KW-0122:Cardiomyopathy.
//
ID   Bartter syndrome 1.
AC   DI-00173
AR   BS1.
DE   An autosomal recessive disorder characterized by impaired salt
DE   reabsorption in the thick ascending loop of Henle with pronounced salt
DE   wasting, hypokalemic metabolic alkalosis, and varying degrees of
DE   hypercalciuria. Bartter syndrome type 1 is a life-threatening
DE   condition beginning in utero, with marked fetal polyuria that leads to
DE   polyhydramnios and premature delivery. Another hallmark is a marked
DE   hypercalciuria and, as a secondary consequence, the development of
DE   nephrocalcinosis and osteopenia.
SY   aBS1.
SY   Antenatal Bartter syndrome 1.
SY   Hyperprostaglandin E syndrome 1.
SY   Hypokalemic alkalosis with hypercalciuria antenatal 1.
DR   MIM; 601678; phenotype.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 2.
AC   DI-00174
AR   BS2.
DE   An autosomal recessive disorder characterized by impaired salt
DE   reabsorption in the thick ascending loop of Henle with pronounced salt
DE   wasting, hypokalemic metabolic alkalosis, and varying degrees of
DE   hypercalciuria. Bartter syndrome type 2 is a life-threatening
DE   condition beginning in utero, with marked fetal polyuria that leads to
DE   polyhydramnios and premature delivery. Another hallmark is a marked
DE   hypercalciuria and, as a secondary consequence, the development of
DE   nephrocalcinosis and osteopenia.
SY   aBS2.
SY   Antenatal Bartter syndrome 2.
SY   Hyperprostanglandin E syndrome 2.
SY   Hypokalemic alkalosis with hypercalciuria antenatal 2.
DR   MIM; 241200; phenotype.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 3.
AC   DI-00175
AR   BS3.
DE   An autosomal recessive disorder characterized by impaired salt
DE   reabsorption in the thick ascending loop of Henle with pronounced salt
DE   wasting, hypokalemic metabolic alkalosis, and varying degrees of
DE   hypercalciuria.
SY   Classic Bartter syndrome.
DR   MIM; 607364; phenotype.
DR   MeSH; D001477.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 4A.
AC   DI-00176
AR   BS4A.
DE   An autosomal recessive disorder characterized by impaired salt
DE   reabsorption in the thick ascending loop of Henle with pronounced salt
DE   wasting, hypokalemic metabolic alkalosis, and varying degrees of
DE   hypercalciuria. Bartter syndrome type 4 is associated with
DE   sensorineural deafness.
SY   aBS4.
SY   Antenatal Bartter syndrome type 4.
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   MeSH; D001477.
KW   KW-0209:Deafness.
KW   KW-0910:Bartter syndrome.
//
ID   Bartter syndrome 4B.
AC   DI-02554
AR   BS4B.
DE   A digenic, recessive disorder characterized by impaired salt
DE   reabsorption in the thick ascending loop of Henle with pronounced salt
DE   wasting, hypokalemic metabolic alkalosis, and varying degrees of
DE   hypercalciuria. Bartter syndrome type 4B is associated with
DE   sensorineural deafness.
SY   BSND.
SY   Infantile Bartter syndrome with sensorineural deafness.
DR   MIM; 613090; phenotype.
DR   MeSH; D001477.
KW   KW-0209:Deafness.
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   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   MeSH; D002280.
//
ID   Basal cell nevus syndrome.
AC   DI-00177
AR   BCNS.
DE   An autosomal dominant disease characterized by nevoid basal cell
DE   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 basal
DE   cell carcinomas, fibromas of the ovaries and heart, cysts of the skin,
DE   jaws and mesentery, as well as medulloblastomas and meningiomas.
SY   Gorlin syndrome or Gorlin-Goltz syndrome.
DR   MIM; 109400; phenotype.
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   IBGC3.
SY   Idiopathic basal ganglia calcification 3.
SY   Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification.
DR   MIM; 213600; phenotype.
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   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   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   MeSH; D015593.
//
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   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.
SY   Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations.
DR   MIM; 613680; phenotype.
DR   MeSH; D000015.
//
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   MeSH; D020388.
//
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   MeSH; D001506.
//
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   MeSH; D001764.
KW   KW-1023:Dystonia.
//
ID   Bent bone dysplasia syndrome.
AC   DI-03429
AR   BBDS.
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   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   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   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   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   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   MeSH; D000742.
DR   MeSH; D017086.
KW   KW-1055:Congenital dyserythropoietic anemia.
//
ID   Beta-ureidopropionase deficiency.
AC   DI-01276
AR   BUPD.
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   MeSH; D011686.
//
ID   Bethlem myopathy.
AC   DI-00188
AR   BM.
DE   A benign autosomal dominant proximal myopathy characterized by early
DE   childhood onset and joint contractures most frequently affecting the
DE   elbows and ankles.
DR   MIM; 158810; phenotype.
DR   MeSH; D009136.
//
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 tapetoretinal degeneration with marginal corneal dystrophy.
SY   Crystalline retinopathy.
DR   MIM; 210370; phenotype.
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   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   MeSH; D000013.
//
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.
DR   MIM; 253260; phenotype.
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.
//
ID   Birk-Barel mental retardation dysmorphism syndrome.
AC   DI-02513
AR   BIBAS.
DE   A syndrome characterized by mental retardation, hypotonia,
DE   hyperactivity, and facial dysmorphism.
SY   Birk-Barel syndrome.
SY   Mental retardation with hypotonia and facial dysmorphism.
DR   MIM; 612292; phenotype.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Birt-Hogg-Dube syndrome.
AC   DI-00190
AR   BHD.
DE   A rare autosomal dominant genodermatosis characterized by hair
DE   follicle hamartomas (fibrofolliculomas), kidney tumors, and
DE   spontaneous pneumothorax. Fibrofolliculomas are part of the triad of
DE   Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas
DE   and acrochordons. Onset of this dermatologic condition is invariably
DE   in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of
DE   histologic types of renal tumors, including chromophobe renal cell
DE   carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary
DE   type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas
DE   are also seen in Birt-Hogg-Dube syndrome patients.
SY   Fibrofolliculomas with trichodiscomas and acrochordons.
DR   MIM; 135150; phenotype.
DR   MeSH; D058249.
//
ID   Bisphosphoglycerate mutase deficiency.
AC   DI-03027
AR   BPGMD.
DE   A disease characterized by hemolytic anemia, splenomegaly,
DE   cholelithiasis and cholecystitis.
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   MeSH; D000743.
KW   KW-0360:Hereditary hemolytic anemia.
//
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   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   MeSH; D001749.
//
ID   Blau syndrome.
AC   DI-01286
AR   BS.
DE   Rare autosomal dominant disorder characterized by early-onset
DE   granulomatous arthritis, uveitis and skin rash.
SY   ACUG.
SY   Arthrocutaneouveal granulomatosis.
SY   Familial granulomatosis blau type.
SY   Familial granulomatous inflammatory arthritis dermatitis and uveitis.
SY   Familial juvenile systemic granulomatosis.
SY   Jabs syndrome.
DR   MIM; 186580; phenotype.
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   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   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   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   Autosomal dominant Glanzmann thrombasthenia.
SY   Autosomal dominant thrombasthenia of Glanzmann and Naegeli.
DR   MIM; 187800; phenotype.
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   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   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   MeSH; D001791.
DR   MeSH; D006470.
//
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 ovarian failure.
SY   BPES without ovarian failure.
DR   MIM; 110100; phenotype.
DR   MeSH; D012868.
DR   MeSH; D016569.
//
ID   Blepharophimosis-ptosis-intellectual disability syndrome.
AC   DI-03742
AR   BPIDS.
DE   A disorder 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-mental retardation syndrome.
SY   BPID syndrome.
DR   MIM; 615057; phenotype.
DR   MeSH; D001763.
DR   MeSH; D008607.
DR   MeSH; D016569.
KW   KW-0991:Mental retardation.
//
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.
DR   MIM; 210900; phenotype.
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   MeSH; D003117.
//
ID   Boerjeson-Forssman-Lehmann syndrome.
AC   DI-00192
AR   BFLS.
DE   A X-linked recessive disorder characterized by moderate to severe
DE   mental retardation, epilepsy, hypogonadism, hypometabolism, obesity
DE   with marked gynecomastia, swelling of subcutaneous tissue of the face,
DE   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   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Bohring-Opitz syndrome.
AC   DI-01304
AR   BOPS.
DE   A syndrome characterized by severe intrauterine growth retardation,
DE   poor feeding, profound mental retardation, trigonocephaly, prominent
DE   metopic suture, exophthalmos, nevus flammeus of the face, upslanting
DE   palpebral fissures, hirsutism, and flexion of the elbows and wrists
DE   with deviation of the wrists and metacarpophalangeal joints.
SY   Bohring syndrome.
SY   C-like syndrome.
SY   Opitz trigonocephaly-like syndrome.
DR   MIM; 605039; phenotype.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
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   MeSH; D000741.
DR   MeSH; D009190.
//
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   MeSH; D000741.
//
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   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   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 mental
DE   retardation and autism spectrum disorder. Affected individuals do not
DE   suffer from central hypoventilation.
DR   MIM; 601536; phenotype.
DR   MeSH; D006319.
DR   MeSH; D009421.
//
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   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   MeSH; D007006.
DR   MeSH; D013132.
DR   MeSH; D058499.
KW   KW-0523:Neurodegeneration.
KW   KW-1016:Hypogonadotropic hypogonadism.
//
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   MeSH; D005317.
//
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.
SY   Farabee-type brachydactyly.
DR   MIM; 112500; phenotype.
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.
SY   Brachydactyly A1C.
SY   Brachydactyly type A1 C.
DR   MIM; 615072; phenotype.
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   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   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   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   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   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   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   MeSH; D059327.
//
ID   Brachydactyly-mental retardation syndrome.
AC   DI-02923
AR   BDMR.
DE   A syndrome resembling the physical anomalies found in Albright
DE   hereditary osteodystrophy. Common features are mild facial
DE   dysmorphism, congenital heart defects, distinct brachydactyly type E,
DE   mental retardation, developmental delay, seizures, autism spectrum
DE   disorder, and stocky build. Soft tissue ossification is absent, and
DE   there are no abnormalities in parathyroid hormone or calcium
DE   metabolism.
SY   Albright hereditary osteodystrophy-like syndrome.
DR   MIM; 600430; phenotype.
DR   MeSH; D008607.
DR   MeSH; D059327.
KW   KW-0991:Mental retardation.
//
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   MeSH; D013576.
DR   MeSH; D059327.
//
ID   Brachyolmia 3.
AC   DI-01292
AR   BRAC3.
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 without significant
DE   epiphyseal or metaphyseal changes in the long bones. BRAC3 is an
DE   autosomal dominant form with severe scoliosis with or without
DE   kyphosis, and flattened irregular cervical vertebrae.
SY   Autosomal dominant brachyolmia.
SY   Brachyrachia.
DR   MIM; 113500; phenotype.
DR   MeSH; D010009.
//
ID   Brain small vessel disease with hemorrhage.
AC   DI-01293
AR   BSVDH.
DE   An autosomal dominant disease characterized by weakening of the blood
DE   vessels in the brain and retinal arteriolar tortuosity. In affected
DE   individuals, stroke is often the first symptom and is usually caused
DE   by bleeding in the brain (hemorrhagic stroke) rather than a lack of
DE   blood flow in the brain (ischemic stroke). Patients also have
DE   leukoencephalopathy and may experience seizures and migraine headaches
DE   accompanied by visual sensations known as auras.
SY   Autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis and leukoencephalopathy.
SY   Infantile hemiparesis.
DR   MIM; 607595; phenotype.
DR   MeSH; D012166.
DR   MeSH; D056784.
//
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   MeSH; D001321.
DR   MeSH; D004827.
DR   MeSH; D008607.
DR   MeSH; D020739.
//
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   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   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   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   Branchio-oto-renal dysplasia 1.
SY   Branchio-oto-renal syndrome type 1.
SY   Branchiootorenal dysplasia 1.
SY   Melnick-Fraser syndrome.
DR   MIM; 113650; phenotype.
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   Branchio-oto-renal dysplasia 2.
SY   Branchio-oto-renal syndrome type 2.
SY   Branchiootorenal dysplasia 2.
DR   MIM; 610896; phenotype.
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   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   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   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   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   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   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   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   MeSH; D004535.
//
ID   Brody myopathy.
AC   DI-00200
AR   BRM.
DE   A disorder of muscle function that is characterized by painless muscle
DE   cramping and exercise-induced impairment of muscle relaxation.
SY   Brody disease.
DR   MIM; 601003; phenotype.
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   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   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   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   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   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.
DR   MIM; 614707; phenotype.
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.
DR   MIM; 259450; phenotype.
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   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   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   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   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   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   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   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   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   MeSH; D053840.
KW   KW-0992:Brugada syndrome.
//
ID   Brunner syndrome.
AC   DI-00206
AR   BRUNS.
DE   A form of X-linked non-dysmorphic mild mental retardation. Male
DE   patients are affected by borderline mental retardation and exhibit
DE   abnormal behavior, including disturbed regulation of impulsive
DE   aggression. Obligate female carriers have normal intelligence and
DE   behavior.
DR   MIM; 300615; phenotype.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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   MeSH; D006502.
//
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   MeSH; D002051.
//
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   MeSH; D010023.
DR   MeSH; D012873.
//
ID   Butyrylcholinesterase deficiency.
AC   DI-01302
AR   BChE deficiency.
DE   A metabolic disorder characterized by prolonged apnea after the use of
DE   certain anesthetic drugs, including the muscle relaxants
DE   succinylcholine or mivacurium and other ester local anesthetics. The
DE   duration of the prolonged apnea varies significantly depending on the
DE   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; 177400; gene+phenotype.
DR   MeSH; D008661.
//
ID   C syndrome.
AC   DI-01303
AR   CSYN.
DE   A syndrome characterized by trigonocephaly, severe mental retardation,
DE   hypotonia, variable cardiac defects, redundant skin, and dysmorphic
DE   facial features, including upslanted palpebral fissures, epicanthal
DE   folds, depressed nasal bridge, and low-set, posteriorly rotated ears.
SY   Opitz trigonocephaly syndrome.
SY   Trigonocephaly syndrome.
DR   MIM; 211750; phenotype.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
ID   Caffey disease.
AC   DI-01310
AR   CAFFD.
DE   Characterized by an infantile episode of massive subperiosteal new
DE   bone formation that typically involves the diaphyses of the long
DE   bones, mandible, and clavicles. The involved bones may also appear
DE   inflamed, with painful swelling and systemic fever often accompanying
DE   the illness. The bone changes usually begin before 5 months of age and
DE   resolve before 2 years of age.
SY   Infantile cortical hyperostosis.
DR   MIM; 114000; phenotype.
//
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   MeSH; D002114.
//
ID   Campomelic dysplasia.
AC   DI-01311
AR   CMD1.
DE   Rare, often lethal, dominantly inherited, congenital
DE   osteochondrodysplasia, associated with male-to-female autosomal sex
DE   reversal in two-thirds of the affected karyotypic males. A disease of
DE   the newborn characterized by congenital bowing and angulation of long
DE   bones, unusually small scapulae, deformed pelvis and spine and a
DE   missing pair of ribs. Craniofacial defects such as cleft palate,
DE   micrognathia, flat face and hypertelorism are common. Various defects
DE   of the ear are often evident, affecting the cochlea, malleus incus,
DE   stapes and tympanum. Most patients die soon after birth due to
DE   respiratory distress which has been attributed to hypoplasia of the
DE   tracheobronchial cartilage and small thoracic cage.
DR   MIM; 114290; phenotype.
//
ID   Camptodactyly tall stature and hearing loss syndrome.
AC   DI-01312
AR   CATSHL syndrome.
DE   Autosomal dominant syndrome characterized by permanent and irreducible
DE   flexion of one or more fingers of the hand and/or feet, tall stature,
DE   scoliosis and/or a pectus excavatum, and hearing loss. Affected
DE   individuals have developmental delay and/or mental retardation, and
DE   several of these have microcephaly. Radiographic findings included
DE   tall vertebral bodies with irregular borders and broad femoral
DE   metaphyses with long tubular shafts. On audiological exam, each tested
DE   member have bilateral sensorineural hearing loss and absent
DE   otoacoustic emissions. The hearing loss was congenital or developed in
DE   early infancy, progressed variably in early childhood, and range from
DE   mild to severe. Computed tomography and magnetic resonance imaging
DE   reveal that the brain, middle ear, and inner ear are structurally
DE   normal.
DR   MIM; 610474; phenotype.
//
ID   Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
AC   DI-01313
AR   CACP.
DE   Autosomal recessive disorder. Individuals with CACP have normal
DE   appearing joints at birth but with advancing age develop joint failure
DE   associated with noninflammatory synoviocyte hyperplasia and subintimal
DE   fibrosis of the synovial capsule.
SY   Jacobs syndrome.
DR   MIM; 208250; phenotype.
//
ID   Camurati-Engelmann disease.
AC   DI-01314
AR   CE.
DE   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   DPD1.
SY   Progressive diaphyseal dysplasia 1.
DR   MIM; 131300; phenotype.
//
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   MeSH; D017825.
KW   KW-1026:Leukodystrophy.
//
ID   Candidiasis, familial, 2.
AC   DI-02578
AR   CANDF2.
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   CARD9 immunodeficiency.
SY   Familial chronic mucocutaneous candidiasis autosomal recessive.
DR   MIM; 212050; phenotype.
DR   MeSH; D002178.
//
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   MeSH; D002178.
//
ID   Candidiasis, familial, 5.
AC   DI-03104
AR   CANDF5.
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 5 autosomal recessive.
SY   Candidiasis familial chronic mucocutaneous autosomal recessive.
SY   Chronic mucocutaneous candidiasis 5.
DR   MIM; 613953; phenotype.
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   MeSH; D002178.
//
ID   Candidiasis, familial, 7.
AC   DI-03179
AR   CANDF7.
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 7.
SY   IMD31C.
SY   Immunodeficiency 31C.
DR   MIM; 614162; phenotype.
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   MeSH; D002178.
//
ID   Cap myopathy 1.
AC   DI-03838
AR   CAPM1.
DE   A rare congenital skeletal muscle disorder characterized by the
DE   presence of cap-like structures which are well demarcated and
DE   peripherally located under the sarcolemma and show abnormal
DE   accumulation of sarcomeric proteins. Clinical features are early onset
DE   of hypotonia and slowly progressive muscle weakness. Respiratory
DE   problems are common.
SY   Cap disease.
SY   Cap myopathy TPM3-related.
DR   MIM; 609284; phenotype.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Cap myopathy 2.
AC   DI-03839
AR   CAPM2.
DE   A rare congenital skeletal muscle disorder characterized by the
DE   presence of cap-like structures which are well demarcated and
DE   peripherally located under the sarcolemma and show abnormal
DE   accumulation of sarcomeric proteins. Clinical features are early onset
DE   of hypotonia and non-progressive or slowly progressive muscle
DE   weakness. Respiratory problems are common.
SY   Cap disease.
SY   Cap myopathy TPM2-related.
DR   MIM; 609285; phenotype.
DR   MeSH; D017696.
KW   KW-1057:Nemaline myopathy.
//
ID   Capillary malformation-arteriovenous malformation.
AC   DI-01315
AR   CMAVM.
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.
DR   MIM; 608354; phenotype.
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   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 mental retardation.
SY   Carbamoyl phosphate synthetase I deficiency.
SY   CPS I deficiency.
SY   Hyperammonemia due to carbamoyl phosphate synthetase I deficiency.
DR   MIM; 237300; phenotype.
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.
//
ID   Cardiac valvular dysplasia X-linked.
AC   DI-02915
AR   CVDX.
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 dysplasia.
SY   Congenital valvular heart disease.
SY   CVD1.
SY   X-linked myxomatous valvular dystrophy.
SY   XMVD.
DR   MIM; 314400; phenotype.
DR   MeSH; D006349.
//
ID   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.
AC   DI-01608
AR   CEMCOX1.
DE   A disorder characterized by hypotonia, developmental delay,
DE   hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss
DE   in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase
DE   deficiency.
SY   Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy.
DR   MIM; 604377; phenotype.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
//
ID   Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2.
AC   DI-03707
AR   CEMCOX2.
DE   An infantile disorder, with a rapidly progressive fatal course,
DE   characterized by cytochrome c oxidase deficiency. Clinical features
DE   include microcephaly, encephalopathy, hypertrophic cardiomyopathy,
DE   persistent lactic acidosis, respiratory distress, hypotonia and
DE   seizures. Postmortem cardiac muscle studies show marked complex IV
DE   deficiency. Complex IV activity is only slightly decreased in the
DE   skeletal muscle.
DR   MIM; 615119; phenotype.
DR   MeSH; D002312.
DR   MeSH; D017237.
DR   MeSH; D030401.
//
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 mental retardation. Heart defects
DE   include pulmonic stenosis, atrial septal defects and hypertrophic
DE   cardiomyopathy. Some affected individuals present with ectodermal
DE   abnormalities such as sparse, friable hair, hyperkeratotic skin
DE   lesions and a generalized ichthyosis-like condition. Typical facial
DE   features are similar to Noonan syndrome. They include high forehead
DE   with bitemporal constriction, hypoplastic supraorbital ridges,
DE   downslanting palpebral fissures, a depressed nasal bridge, and
DE   posteriorly angulated ears with prominent helices.
SY   Cardio-facio-cutaneous syndrome.
SY   CFC syndrome.
SY   CFCS.
DR   MIM; 115150; phenotype.
DR   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Mental retardation.
//
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 mental retardation. 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   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Mental retardation.
//
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 mental retardation. 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   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Mental retardation.
//
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 mental retardation. 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   MeSH; D004476.
DR   MeSH; D006330.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0122:Cardiomyopathy.
KW   KW-0991:Mental retardation.
//
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   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated 1AA.
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   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   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated 1C.
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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated 1N.
AC   DI-00220
AR   CMD1N.
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; 607487; phenotype.
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   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   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   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   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   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, dilated 1T.
AC   DI-03094
AR   CMD1T.
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; 613740; phenotype.
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   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   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   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   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   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   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   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   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 mental
DE   retardation, skeletal anomalies, scleroderma-like skin, graying and
DE   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   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   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Cardiomyopathy, dilated, X-linked 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.
SY   X-linked dilated cardiomyopathy.
SY   XLCM.
DR   MIM; 302045; phenotype.
DR   MeSH; D002311.
KW   KW-0122:Cardiomyopathy.
//
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   FHC.
SY   HCM.
SY   Hereditary ventricular hypertrophy.
SY   Hypertrophic subaortic stenosis.
DR   MIM; 192600; phenotype.
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.
SY   ASH.
SY   Asymmetric septal hypertrophy.
SY   Hypertrophic subaortic stenosis idiopathic.
SY   Ventricular hypertrophy hereditary.
DR   MIM; 192600; phenotype.
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   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   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   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   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   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   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   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   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   MeSH; D024741.
KW   KW-0122:Cardiomyopathy.
//
ID   Cardiomyopathy, familial hypertrophic 19.
AC   DI-03040
AR   CMH19.
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; 613875; phenotype.
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   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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D009202.
KW   KW-0122:Cardiomyopathy.
//
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.
DR   MIM; 160980; phenotype.
//
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.
//
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   CPT-I deficiency.
SY   CPT1A deficiency.
DR   MIM; 255120; phenotype.
//
ID   Carnitine palmitoyltransferase 2 deficiency infantile.
AC   DI-03089
AR   CPT2DI.
DE   A disorder of mitochondrial long-chain fatty acid oxidation
DE   characterized by hepatic or hepato-cardio-muscular manifestations with
DE   onset in infancy. Clinical features include hypoketotic hypoglycemia,
DE   lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and
DE   dilated cardiomyopathy.
DR   MIM; 600649; phenotype.
//
ID   Carnitine palmitoyltransferase 2 deficiency late-onset.
AC   DI-01322
AR   CPT2D.
DE   Autosomal recessive disorder characterized by recurrent myoglobinuria,
DE   episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms
DE   are triggered by prolonged exercise, fasting or viral infection and
DE   patients are usually young adults. In addition to this classical,
DE   late-onset, muscular type, a hepatic or hepatocardiomuscular form has
DE   been reported in infants. Clinical pictures in these children or
DE   neonates include hypoketotic hypoglycemia, liver dysfunction,
DE   cardiomyopathy and sudden death.
SY   Carnitine palmitoyltransferase II deficiency.
SY   CPT-II deficiency.
SY   CPT2 deficiency.
DR   MIM; 255110; phenotype.
//
ID   Carnitine palmitoyltransferase 2 deficiency lethal neonatal.
AC   DI-01323
AR   CPT2D-LN.
DE   Lethal neonatal form of CPT2D. This rarely presentation is antenatal
DE   with cerebral periventricular cysts and cystic dysplastic kidneys. The
DE   clinical variability of the disease is likely attributed to the
DE   variable residual enzymatic activity.
SY   Lethal neonatal CPT-II deficiency.
DR   MIM; 608836; phenotype.
//
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   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 crapal origin.
DR   MIM; 115430; phenotype.
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; mental retardation; hypogenitalism; and obesity.
DE   In addition, cerebral malformations, oral and dental abnormalities,
DE   coxa valga, genu valgum, hydronephrosis, precocious puberty, and
DE   hearing loss may be observed.
SY   ACPS II.
SY   ACPS2.
SY   Acrocephalopolysyndactyly 2.
SY   Acrocephalopolysyndactyly type II.
SY   Carpenter syndrome.
DR   MIM; 201000; phenotype.
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   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.
//
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 zonular pulverulent 1.
SY   Cataract-microcornea syndrome.
SY   CCMC.
SY   CZNP.
SY   CZP.
SY   CZP1.
SY   Pulverulent zonular cataract.
SY   Zonular nuclear pulverulent cataract.
DR   MIM; 116200; phenotype.
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   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   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   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; 110800; phenotype.
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   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   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   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   CATCN3.
DR   MIM; 611544; phenotype.
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   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 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   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   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   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 21, multiple types, with or without microcornea.
SY   Cataract pulverulent juvenile-onset.
SY   Cataract, pulverulent or cerulean, with or without microcornea.
SY   CCA4.
SY   Congenital cataract blue dot type 4.
SY   Congenital cataract cerulean type 4.
DR   MIM; 610202; phenotype.
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   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 23.
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   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   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 30.
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   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   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract 33.
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   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   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   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   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   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   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   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   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   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   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   MeSH; D002386.
KW   KW-0898:Cataract.
//
ID   Cataract, juvenile, with microcornea and glucosuria.
AC   DI-01327
AR   CJMG.
DE   A disease characterized by the association of cataract with
DE   microcornea and renal glucosuria. Cataract is an opacification of the
DE   crystalline lens of the eye that frequently results in visual
DE   impairment or blindness. Opacities vary in morphology, are often
DE   confined to a portion of the lens, and may be static or progressive.
DE   Renal glucosuria is defined by elevated glucose level in the urine
DE   without hyperglycemia and without evidence of morphological renal
DE   anomalies.
DR   MIM; 612018; phenotype.
DR   MeSH; D002386.
DR   MeSH; D006030.
//
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   MeSH; D000015.
//
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   MeSH; D007153.
//
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   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   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   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 syndactylism.
SY   Cenani-Lenz syndactyly.
SY   Cenani-Lenz syndrome.
SY   Syndactyly type 7.
SY   Syndactyly type VII.
DR   MIM; 212780; phenotype.
DR   MeSH; D013576.
//
ID   Central core disease of muscle.
AC   DI-01331
AR   CCD.
DE   Autosomal dominant congenital myopathy, but a severe autosomal
DE   recessive form also exists. Both clinical and histological variability
DE   is observed. Affected individuals typically display hypotonia and
DE   proximal muscle weakness in infancy, leading to the delay of motor
DE   milestones. The clinical course of the disorder is usually slow or
DE   nonprogressive in adulthood, and the severity of the symptoms may vary
DE   from normal to significant muscle weakness. Microscopic examination of
DE   CCD-affected skeletal muscle reveals a predominance of type I fibers
DE   containing amorphous-looking areas (cores) that do not stain with
DE   oxidative and phosphorylase histochemical techniques.
DR   MIM; 117000; phenotype.
//
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   MeSH; D002524.
DR   MeSH; D005532.
DR   MeSH; D006319.
DR   MeSH; D009896.
KW   KW-0209:Deafness.
//
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.
//
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   MeSH; D002524.
DR   MeSH; D006319.
DR   MeSH; D009290.
KW   KW-0209:Deafness.
//
ID   Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.
AC   DI-02742
AR   CAMRQ1.
DE   A congenital, non-progressive cerebellar ataxia associated with
DE   disturbed equilibrium, delayed ambulation, mental retardation,
DE   cerebellar hypoplasia and mild cerebral gyral simplification.
DE   Additional features include short stature, strabismus, pes planus and,
DE   rarely, seizures.
SY   Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1.
SY   Cerebellar hypoplasia VLDLR-associated.
SY   Congenital cerebellar ataxia and mental retardation autosomal recessive.
SY   DES.
SY   Dysequilibrium syndrome.
DR   MIM; 224050; phenotype.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2.
AC   DI-03450
AR   CAMRQ2.
DE   A congenital cerebellar ataxia associated with cerebellar hypoplasia,
DE   mental retardation, and inability to walk bipedally, resulting in
DE   quadrupedal locomotion as a functional adaptation. Additional findings
DE   include generalized brain atrophy and mild hypoplasia of the corpus
DE   callosum.
SY   Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2.
DR   MIM; 610185; phenotype.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3.
AC   DI-02743
AR   CMARQ3.
DE   A congenital cerebellar ataxia associated with dysarthia, quadrupedal
DE   gait and mental retardation.
SY   Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3.
SY   Congenital cerebellar ataxia and mental retardation autosomal recessive.
DR   MIM; 613227; phenotype.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4.
AC   DI-03773
AR   CMARQ4.
DE   A congenital cerebellar ataxia associated with dysarthia, quadrupedal
DE   gait and mental retardation.
SY   Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4.
DR   MIM; 615268; phenotype.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
ID   Cerebellar ataxia, non-progressive, with mental retardation.
AC   DI-03530
AR   CANPMR.
DE   A neurodevelopmental disorder characterized by mildly delayed
DE   psychomotor development, early onset of cerebellar ataxia, and
DE   intellectual disability later in childhood and adult life. Other
DE   features may include neonatal hypotonia, dysarthria, and dysmetria.
DE   Brain imaging in some patients shows cerebellar atrophy. Dysmorphic
DE   facial features are variable.
DR   MIM; 614756; phenotype.
DR   MeSH; D002524.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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   HCHWA-D.
SY   HCHWAD.
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   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   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   MeSH; D028243.
KW   KW-1008:Amyloidosis.
//
ID   Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant.
AC   DI-01334
AR   CADASIL.
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   CASIL.
SY   Dementia hereditary multi-infarct type.
DR   MIM; 125310; phenotype.
DR   MeSH; D046589.
//
ID   Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive.
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   Subcortical vascular encephalopathy progressive.
DR   MIM; 600142; phenotype.
DR   MeSH; D015140.
//
ID   Cerebral cavernous malformations 1.
AC   DI-00255
AR   CCM1.
DE   A congenital vascular anomaly of the central nervous system that can
DE   result in hemorrhagic stroke, seizures, recurrent headaches, and focal
DE   neurologic deficits. The lesions are characterized by grossly enlarged
DE   blood vessels consisting of a single layer of endothelium and without
DE   any intervening neural tissue, ranging in diameter from a few
DE   millimeters to several centimeters.
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   MeSH; D020786.
//
ID   Cerebral cavernous malformations 2.
AC   DI-00256
AR   CCM2.
DE   A congenital vascular anomaly of the central nervous system that can
DE   result in hemorrhagic stroke, seizures, recurrent headaches, and focal
DE   neurologic deficits. The lesions are characterized by grossly enlarged
DE   blood vessels consisting of a single layer of endothelium and without
DE   any intervening neural tissue, ranging in diameter from a few
DE   millimeters to several centimeters.
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   MeSH; D020786.
//
ID   Cerebral cavernous malformations 3.
AC   DI-00257
AR   CCM3.
DE   A congenital vascular anomaly of the central nervous system that can
DE   result in hemorrhagic stroke, seizures, recurrent headaches, and focal
DE   neurologic deficits. The lesions are characterized by grossly enlarged
DE   blood vessels consisting of a single layer of endothelium and without
DE   any intervening neural tissue, ranging in diameter from a few
DE   millimeters to several centimeters.
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   MeSH; D020786.
//
ID   Cerebral creatine deficiency syndrome 1.
AC   DI-02440
AR   CCDS1.
DE   An X-linked disorder of creatine transport characterized by mental
DE   retardation, severe speech delay, behavioral abnormalities, and
DE   seizures. Carrier females may show mild neuropsychologic impairment.
SY   Creatine transporter defect.
SY   X-linked creatine deficiency syndrome.
SY   X-linked mental retardation with creatine transport deficiency.
SY   X-linked mental retardation with seizures, short stature, and midface hypoplasia.
DR   MIM; 300352; phenotype.
DR   MeSH; D020739.
DR   MeSH; D038901.
KW   KW-0991:Mental retardation.
//
ID   Cerebral creatine deficiency syndrome 2.
AC   DI-01690
AR   CCDS2.
DE   An autosomal recessive disorder characterized by developmental delay
DE   and regression, mental retardation, severe disturbance of expressive
DE   and cognitive speech, intractable seizures, movement disturbances,
DE   severe depletion of creatine and phosphocreatine in the brain, and
DE   accumulation of guanidinoacetic acid in brain and body fluids.
SY   Creatine deficiency syndrome due to GAMT deficiency.
SY   GAMT deficiency.
SY   Guanidinoacetate methyltransferase deficiency.
DR   MIM; 612736; phenotype.
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, mental retardation, severe disturbance of expressive
DE   and cognitive speech, and severe depletion of creatine/phosphocreatine
DE   in the brain. Most patients develop a myopathy characterized by muscle
DE   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   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   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, mental retardation and sometimes epilepsy can be
DE   part of the clinical picture.
SY   Autosomal recessive symmetric spastic cerebral palsy 1.
DR   MIM; 603513; phenotype.
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 mental retardation. Neuroimaging shows brain atrophy and
DE   ventriculomegaly.
DR   MIM; 612900; phenotype.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 3.
AC   DI-02560
AR   CPSQ3.
DE   A non-progressive disorder of movement and/or posture resulting from
DE   defects in the developing central nervous system. Affected individuals
DE   present postnatally with early infantile hypotonia, delayed
DE   psychomotor development, strabismus, lack of independent walking and
DE   severe mental retardation. They develop progressive spasticity of all
DE   limbs with generalized hypertonia, hyperreflexia, and extensor plantar
DE   responses by the end of the first year of life. Speech is absent or
DE   limited. Pseudobulbar signs, such as drooling, stereotypic laughter,
DE   and exaggerated jaw jerk, are part of the clinical picture.
DR   MIM; 612936; phenotype.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 4.
AC   DI-03061
AR   CPSQ4.
DE   A non-progressive disorder of movement and/or posture resulting from
DE   defects in the developing central nervous system. Affected individuals
DE   manifest motor and posture impairments often associated with epilepsy
DE   and disturbances of cognition, behavior, sensation, and communication.
DR   MIM; 613744; phenotype.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 5.
AC   DI-03145
AR   CPSQ5.
DE   A neurodevelopmental disorder characterized by neonatal hypotonia that
DE   progresses to hypertonia and spasticity, and severe mental retardation
DE   with poor or absent speech development.
DR   MIM; 614066; phenotype.
DR   MeSH; D002547.
//
ID   Cerebral palsy, spastic quadriplegic 6.
AC   DI-03146
AR   CPSQ6.
DE   A neurodevelopmental disorder characterized by neonatal hypotonia that
DE   progresses to hypertonia and spasticity, and severe mental retardation
DE   with poor or absent speech development.
DR   MIM; 614067; phenotype.
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   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   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   MeSH; D001176.
DR   MeSH; D002386.
DR   MeSH; D005124.
DR   MeSH; D008831.
//
ID   Cerebroretinal microangiopathy with calcifications and cysts.
AC   DI-03394
AR   CRMCC.
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   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.
DR   MIM; 213700; phenotype.
//
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   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   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   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 12.
AC   DI-03928
AR   CLN12.
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; 606693; phenotype.
DR   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 13.
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.
SY   Neuronal ceroid lipofuscinosis 13 Kufs type.
DR   MIM; 615362; phenotype.
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   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   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 4A.
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   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 4B.
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   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   MeSH; D009472.
KW   KW-0525:Neuronal ceroid lipofuscinosis.
//
ID   Ceroid lipofuscinosis, neuronal, 6.
AC   DI-00814
AR   CLN6.
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 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   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   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   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 mental retardation.
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.
SY   Progressive epilepsy with mental retardation.
DR   MIM; 610003; phenotype.
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   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   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   MeSH; D008052.
DR   MeSH; D016113.
KW   KW-0209:Deafness.
KW   KW-0898:Cataract.
KW   KW-0977:Ichthyosis.
//
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   MeSH; D004374.
//
ID   Charcot-Marie-Tooth disease 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   HMSN IA.
SY   HMSN1A.
DR   MIM; 118220; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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   HMSN IB.
SY   HMSN1B.
SY   Peroneal muscular atrophy.
DR   MIM; 118200; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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   HMSN IC.
SY   HMSN1C.
DR   MIM; 601098; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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   HMSN ID.
SY   HMSN1D.
DR   MIM; 607678; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   HMSN IIA1.
SY   HMSN2A1.
DR   MIM; 118210; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 2A2.
AC   DI-00275
AR   CMT2A2.
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. Nerve conduction velocities are normal or slightly reduced.
SY   Charcot-Marie-Tooth disease axonal type 2A2.
SY   Charcot-Marie-Tooth disease neuronal type 2A2.
SY   Charcot-Marie-Tooth neuropathy type 2A2.
SY   Hereditary motor and sensory neuropathy IIA2.
SY   HMSN IIA2.
SY   HMSN2A2.
DR   MIM; 609260; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   HMSN IIB.
SY   HMSN2B.
SY   Peripheral sensory neuropathy autosomal dominant.
SY   PSN.
DR   MIM; 600882; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   HMSN IIC.
SY   HMSN2C.
DR   MIM; 606071; phenotype.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
DE   Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25
DE   years with muscle weakness and atrophy usually beginning in feet and
DE   legs (peroneal distribution). Upper limb involvement occurs 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
DE   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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
DE   Charcot-Marie-Tooth disease type 2K onset is in early childhood
DE   (younger than 3 years). This phenotype is characterized by foot
DE   deformities, kyphoscoliosis, distal limb muscle weakness and atrophy,
DE   areflexia, and diminished sensation in the lower limbs. Weakness in
DE   the upper limbs is observed in the first decade, with clawing of the
DE   fingers. Inheritance can be autosomal dominant or 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
SY   Charcot-Marie-Tooth disease axonal type 2P.
SY   Charcot-Marie-Tooth neuropathy axonal type 2P.
DR   MIM; 614436; phenotype.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
SY   Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q.
SY   Charcot-Marie-Tooth disease axonal type 2Q.
SY   Charcot-Marie-Tooth neuropathy axonal type 2Q.
DR   MIM; 615025; phenotype.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 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. Nerve conduction velocities are normal or slightly reduced.
SY   Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R.
SY   Charcot-Marie-Tooth disease axonal type 2R.
SY   Charcot-Marie-Tooth neuropathy axonal type 2R.
DR   MIM; 615490; phenotype.
DR   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
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.
SY   Charcot-Marie-Tooth disease neuropathy type 4A.
DR   MIM; 214400; phenotype.
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   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   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   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   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   HMSN IVD.
SY   HMSN4D.
SY   HMSNL.
DR   MIM; 601455; phenotype.
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   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   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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease 6.
AC   DI-00292
AR   CMT6.
DE   A form of Charcot-Marie-Tooth disease characterized by the association
DE   of axonal peripheral neuropathy with optic atrophy. Charcot-Marie-
DE   Tooth disease is a disorder of the peripheral nervous system,
DE   characterized by progressive weakness and atrophy, initially of the
DE   peroneal muscles and later of the distal muscles of the arms. It is
DE   classified in two main groups on the basis of electrophysiologic
DE   properties and histopathology: primary peripheral demyelinating
DE   neuropathies and primary peripheral axonal neuropathies. Peripheral
DE   axonal neuropathies are characterized by signs of axonal regeneration
DE   in the absence of obvious myelin alterations, normal or slightly
DE   reduced nerve conduction velocities, and progressive distal muscle
DE   weakness and atrophy. Nerve conduction velocities are normal or
DE   slightly reduced.
SY   Hereditary motor and sensory neuropathy VI.
SY   HMSN VI.
SY   HMSN6.
SY   Peripheral neuropathy and optic atrophy.
DR   MIM; 601152; phenotype.
DR   MeSH; D002607.
DR   MeSH; D015417.
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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, dominant, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive, intermediate type, 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   MeSH; D002607.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
ID   Charcot-Marie-Tooth disease, recessive, intermediate type, 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   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   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   MeSH; D002607.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0523:Neurodegeneration.
//
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   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.
//
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   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   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 at
DE   temperatures less than 10 degrees centigrade.
SY   Chilblain lupus erythematosus.
SY   CHLE.
SY   Hutchinson lupus.
DR   MIM; 610448; phenotype.
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 at
DE   temperatures less than 10 degrees centigrade.
DR   MIM; 614415; phenotype.
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.
//
ID   Choanal atresia and lymphedema.
AC   DI-03023
AR   CHATLY.
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   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   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   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   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   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   Neonatal-onset citrullinemia type 2.
SY   Neonatal-onset citrullinemia type II.
DR   MIM; 605814; phenotype.
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.
SY   Byler disease.
SY   Fatal intrahepatic cholestasis.
DR   MIM; 211600; phenotype.
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.
DR   MIM; 601847; phenotype.
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.
SY   MDR3 deficiency.
SY   Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase.
DR   MIM; 602347; phenotype.
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.
DR   MIM; 615878; phenotype.
DR   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
ID   Cholesteryl ester storage disease.
AC   DI-00301
AR   CESD.
DE   A mild manifestation of LIPA deficiency, leading to the accumulation
DE   of cholesteryl esters and triglycerides in most tissues of the body.
DE   It is characterized by late-onset.
SY   Cholesterol ester hydrolase deficiency.
SY   Cholesterol ester storage disease.
SY   LAL deficiency.
SY   LIPA deficiency.
SY   Lysosomal acid lipase deficiency.
DR   MIM; 278000; phenotype.
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.
DR   MIM; 118600; phenotype.
//
ID   Chondrodysplasia Blomstrand type.
AC   DI-01343
AR   BOCD.
DE   Severe skeletal dysplasia.
DR   MIM; 215045; phenotype.
//
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   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 syndrome.
SY   Conradi-Hunermann-Happle syndrome.
SY   Happle syndrome.
DR   MIM; 302960; phenotype.
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   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 mental retardation.
DR   MIM; 300863; phenotype.
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   MeSH; D002813.
//
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.
//
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   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   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   MeSH; D001264.
DR   MeSH; D002819.
DR   MeSH; D003409.
DR   MeSH; D012127.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Choroidal dystrophy, central areolar 2.
AC   DI-01330
AR   CACD2.
DE   A disease of the macula leading to a well-demarcated circumscribed
DE   area of atrophy of the pigment epithelium and choriocapillaris.
DR   MIM; 613105; phenotype.
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   MeSH; D015794.
//
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   Neonatal onset multisystem inflammatory disease.
SY   NOMID.
DR   MIM; 607115; phenotype.
//
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   MeSH; D006319.
DR   MeSH; D016080.
DR   MeSH; D061085.
KW   KW-0209:Deafness.
//
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   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   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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D002925.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   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   ICS3.
SY   Immotile cilia syndrome 3.
DR   MIM; 608644; phenotype.
DR   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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   MeSH; D007619.
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.
DR   MIM; 608647; phenotype.
DR   MeSH; D007619.
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   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   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   MeSH; D007619.
KW   KW-0990:Primary ciliary dyskinesia.
//
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.
//
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   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   MeSH; D056806.
//
ID   CK syndrome.
AC   DI-03007
AR   CKS.
DE   A disorder characterized by mild to severe cognitive impairment,
DE   seizures, microcephaly, cerebral cortical malformations, dysmorphic
DE   facial features, and thin body habitus.
SY   Mental retardation X-linked with thin body habitus and cortical malformation.
DR   MIM; 300831; phenotype.
DR   MeSH; D038901.
KW   KW-0991:Mental retardation.
//
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, mental
DE   retardation, and osteoporosis.
SY   Cleft palate isolated with mental retardation.
SY   CP.
DR   MIM; 119540; phenotype.
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   MeSH; D002972.
//
ID   Cleidocranial dysplasia.
AC   DI-01353
AR   CLCD.
DE   Autosomal dominant skeletal disorder with high penetrance and variable
DE   expressivity. It is due to defective endochondral and intramembranous
DE   bone formation. Typical features include hypoplasia/aplasia of
DE   clavicles, patent fontanelles, wormian bones (additional cranial
DE   plates caused by abnormal ossification of the calvaria), supernumerary
DE   teeth, short stature, and other skeletal changes. In some cases
DE   defects in RUNX2 are exclusively associated with dental anomalies.
SY   CCD.
SY   Cleidocranial dysostosis.
DR   MIM; 119600; phenotype.
//
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   MeSH; D003025.
//
ID   COACH syndrome.
AC   DI-02835
AR   COACHS.
DE   A disorder characterized by mental retardation, ataxia due to
DE   cerebellar hypoplasia, and hepatic fibrosis. Patients present the
DE   molar 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.
SY   Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis.
SY   Joubert syndrome with congenital hepatic fibrosis.
DR   MIM; 216360; phenotype.
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 mental retardation. Two clinical forms are
DE   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   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 mental retardation. Two clinical forms are
DE   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   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   MeSH; D005315.
//
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   MeSH; D028361.
//
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 mental retardation, peripheral
DE   neuropathy, obesity, livedo reticularis, and cardiac valvulopathy.
DR   MIM; 614651; phenotype.
DR   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
KW   KW-0523:Neurodegeneration.
//
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   MeSH; D028361.
//
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   MeSH; D006319.
DR   MeSH; D028361.
KW   KW-0209:Deafness.
//
ID   Coffin-Lowry syndrome.
AC   DI-00313
AR   CLS.
DE   A X-linked mental retardation associated with facial and digital
DE   dysmorphisms, progressive skeletal malformations, growth retardation,
DE   hearing deficit and paroxysmal movement disorders.
DR   MIM; 303600; phenotype.
DR   MeSH; D038921.
KW   KW-0991:Mental retardation.
//
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   MeSH; D019954.
KW   KW-0991:Mental retardation.
//
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   MeSH; D008607.
DR   MeSH; D008831.
DR   MeSH; D009123.
DR   MeSH; D009765.
KW   KW-0550:Obesity.
//
ID   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   MeSH; D003645.
DR   MeSH; D005334.
DR   MeSH; D006228.
DR   MeSH; D006945.
DR   MeSH; D014313.
//
ID   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   MeSH; D003645.
DR   MeSH; D005334.
DR   MeSH; D006228.
DR   MeSH; D006945.
DR   MeSH; D014313.
//
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   MeSH; D007645.
DR   MeSH; D017496.
//
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   MeSH; D009901.
//
ID   Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation 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, mental retardation, 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   Zunich neuroectodermal syndrome.
DR   MIM; 280000; phenotype.
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:Mental retardation.
//
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   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   MeSH; D003103.
//
ID   Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation.
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 mental retardation of
DE   varying degree and/or sensorineural, mid-frequency hearing loss.
DR   MIM; 120433; phenotype.
DR   MeSH; D002971.
DR   MeSH; D002972.
DR   MeSH; D003103.
DR   MeSH; D008607.
DR   MeSH; D034381.
//
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   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   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   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   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   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   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   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   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.
//
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   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.
//
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.
//
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.
//
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   MeSH; D008052.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
//
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   MeSH; D017237.
//
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   MeSH; D017237.
//
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   MeSH; D017237.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
KW   KW-0122:Cardiomyopathy.
//
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   MeSH; D028361.
//
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   MeSH; D028361.
//
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   MeSH; D017237.
//
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   MeSH; D017237.
//
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   MeSH; D002312.
DR   MeSH; D017240.
KW   KW-0122:Cardiomyopathy.
//
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   MeSH; D028361.
//
ID   Combined saposin deficiency.
AC   DI-01370
AR   CSAPD.
DE   Due to absence of all saposins, leading to a fatal storage disorder
DE   with hepatosplenomegaly and severe neurological involvement.
SY   Prosaposin deficiency.
DR   MIM; 611721; phenotype.
//
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   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   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   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   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   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   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   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   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   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   MeSH; D007154.
//
ID   Complement component C1q deficiency.
AC   DI-01305
AR   C1QD.
DE   A disorder caused by impaired activation of the complement classical
DE   pathway. It generally leads to severe immune complex disease with
DE   features of systemic lupus erythematosus and glomerulonephritis.
SY   C1q deficiency.
DR   MIM; 613652; phenotype.
DR   MeSH; D007105.
//
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   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   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   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   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.
//
ID   Complete pure gonadal dysgenesis 46,XY type.
AC   DI-01379
AR   GDXYM.
DE   Type of hypogonadism in which no functional gonads are present to
DE   induce puberty in an externally female person whose karyotype is then
DE   found to be XY. The gonads are found to be non-functional streaks.
SY   Male-limited gonadal dysgenesis 46,XY.
DR   MIM; 233420; phenotype.
//
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   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   MeSH; D058499.
//
ID   Cone dystrophy 5.
AC   DI-02905
AR   COD5.
DE   A 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   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   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   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.
DR   MIM; 610283; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 610381; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 612657; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 608194; phenotype.
DR   MeSH; D012174.
KW   KW-0182:Cone-rod dystrophy.
//
ID   Cone-rod dystrophy 15.
AC   DI-02944
AR   CORD15.
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.
DR   MIM; 613660; phenotype.
DR   MeSH; D012174.
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.
SY   Retinal dystrophy with early macular involvement.
DR   MIM; 614500; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 615374; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 615860; phenotype.
DR   MeSH; D012174.
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.
SY   Cone-rod retinal dystrophy 2.
SY   CRD2.
DR   MIM; 120970; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 615973; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 604116; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 600977; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 601777; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 603649; phenotype.
DR   MeSH; D012174.
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.
DR   MIM; 612775; phenotype.
DR   MeSH; D012174.
KW   KW-0182:Cone-rod dystrophy.
//
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   MeSH; D012174.
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.
DR   MIM; 300476; phenotype.
DR   MeSH; D012174.
KW   KW-0182:Cone-rod dystrophy.
//
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.
//
ID   Congenital amegakaryocytic thrombocytopenia.
AC   DI-01388
AR   CAMT.
DE   Disease characterized by isolated thrombocytopenia and
DE   megakaryocytopenia with no physical anomalies.
DR   MIM; 604498; phenotype.
//
ID   Congenital anomalies of the kidney and urinary tract.
AC   DI-04107
AR   CAKUT.
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. CAKUT is the commonest cause
DE   of chronic kidney disease in children.
SY   Non-syndromic renal hypodysplasia 1.
SY   RHDNS1.
DR   MIM; 610805; phenotype.
DR   MeSH; D014570.
//
ID   Congenital bilateral absence of the vas deferens.
AC   DI-01389
AR   CBAVD.
DE   Important cause of sterility in men and could represent an incomplete
DE   form of cystic fibrosis, as the majority of men suffering from cystic
DE   fibrosis lack the vas deferens.
DR   MIM; 277180; phenotype.
//
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   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   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   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   MeSH; D002780.
KW   KW-0988:Intrahepatic cholestasis.
//
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   MeSH; D000015.
KW   KW-0622:Neuropathy.
KW   KW-0898:Cataract.
//
ID   Congenital cataracts, hearing loss, and neurodegeneration.
AC   DI-03388
AR   CCHLND.
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.
DR   MIM; 614482; phenotype.
DR   MeSH; D000015.
KW   KW-0209:Deafness.
KW   KW-0523:Neurodegeneration.
KW   KW-0898:Cataract.
//
ID   Congenital central hypoventilation syndrome.
AC   DI-01391
AR   CCHS.
DE   Rare disorder characterized by abnormal control of respiration in the
DE   absence of neuromuscular or lung disease, or an identifiable brain
DE   stem lesion. A deficiency in autonomic control of respiration results
DE   in inadequate or negligible ventilatory and arousal responses to
DE   hypercapnia and hypoxemia.
SY   Congenital failure of autonomic control.
SY   Ondine curse.
DR   MIM; 209880; phenotype.
//
ID   Congenital disorder of glycosylation 1A.
AC   DI-00333
AR   CDG1A.
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 1A 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   CDG Ia.
SY   CDG-Ia.
SY   CDGIa.
SY   CDGS1A.
SY   Congenital disorder of glycosylation type Ia.
SY   Jaeken syndrome.
SY   Jaeken's syndrome.
SY   Phosphomannomutase 2 deficiency.
SY   PMM2 deficiency.
DR   MIM; 212065; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1B.
AC   DI-00334
AR   CDG1B.
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 1B is clinically
DE   characterized by protein-losing enteropathy.
SY   Carbohydrate-deficient glycoprotein syndrome type Ib.
SY   CDG gastrointestinal type.
SY   CDG Ib.
SY   CDG-Ib.
SY   CDGIb.
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   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1C.
AC   DI-00335
AR   CDG1C.
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 V.
SY   CDGS5.
DR   MIM; 603147; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1D.
AC   DI-00336
AR   CDG1D.
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 IV.
SY   CDGS4.
DR   MIM; 601110; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1E.
AC   DI-00337
AR   CDG1E.
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. Some
DE   CDG1E patients have features consistent with a dystroglycanopathy and
DE   congenital muscular dystrophy, including O-mannosylation defect,
DE   camptodactyly, elevated creatine kinase, motor delay and dystrophic
DE   changes on muscel biopsy.
DR   MIM; 608799; phenotype.
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 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   CDG If.
SY   CDG-If.
SY   CDGIf.
SY   Congenital disorder of glycosylation type If.
DR   MIM; 609180; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1G.
AC   DI-00339
AR   CDG1G.
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   CDG Ig.
SY   CDG-Ig.
SY   CDGIg.
SY   Congenital disorder of glycosylation type Ig.
DR   MIM; 607143; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1H.
AC   DI-00340
AR   CDG1H.
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   CDG Ih.
SY   CDG-Ih.
SY   CDGIh.
SY   Congenital disorder of glycosylation type Ih.
DR   MIM; 608104; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1I.
AC   DI-00341
AR   CDG1I.
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   CDG Ii.
SY   CDG-Ii.
SY   CDGIi.
SY   Congenital disorder of glycosylation type Ii.
DR   MIM; 607906; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1J.
AC   DI-00342
AR   CDG1J.
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   CDG Ij.
SY   CDG-Ij.
SY   CDGIj.
SY   Congenital disorder of glycosylation type Ij.
DR   MIM; 608093; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1K.
AC   DI-00343
AR   CDG1K.
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   CDG Ik.
SY   CDG-Ik.
SY   CDGIk.
SY   Congenital disorder of glycosylation type Ik.
DR   MIM; 608540; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1L.
AC   DI-00344
AR   CDG1L.
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   CDG Il.
SY   CDG-Il.
SY   CDGIl.
SY   Congenital disorder of glycosylation type Il.
DR   MIM; 608776; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1M.
AC   DI-00345
AR   CDG1M.
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. CDG1M
DE   is a very severe disease with death occurring in early life.
SY   CDG Im.
SY   CDG-Im.
SY   CDGIm.
SY   Congenital disorder of glycosylation type Im.
SY   DK1 deficiency.
SY   Dolichol kinase deficiency.
DR   MIM; 610768; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1N.
AC   DI-00346
AR   CDG1N.
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   CDG In.
SY   CDG-In.
SY   CDGIn.
SY   Congenital disorder of glycosylation type In.
DR   MIM; 612015; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1O.
AC   DI-02496
AR   CDG1O.
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. CDG1O
DE   patients have increased serum creatine kinase, dystrophic changes on
DE   muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan.
SY   CDG Io.
SY   CDG-Io.
SY   CDGIo.
SY   Congenital disorder of glycosylation type Io.
DR   MIM; 612937; phenotype.
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 1P.
AC   DI-02950
AR   CDG1P.
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   CDG Ip.
SY   CDG-Ip.
SY   CDGIp.
SY   Congenital disorder of glycosylation type Ip.
DR   MIM; 613661; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1Q.
AC   DI-02863
AR   CDG1Q.
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   CDG Iq.
SY   CDG-Iq.
SY   CDGIq.
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   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1R.
AC   DI-03397
AR   CDG1R.
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   CDG Ir.
SY   CDG-Ir.
SY   CDGIr.
SY   Congenital disorder of glycosylation 1r.
SY   Congenital disorder of glycosylation type Ir.
DR   MIM; 614507; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1S.
AC   DI-03606
AR   CDG1S.
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   CDG Is.
SY   CDG-Is.
SY   CDGIs.
SY   Congenital disorder of glycosylation 1s.
SY   Congenital disorder of glycosylation type Is.
DR   MIM; 300884; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1T.
AC   DI-03611
AR   CDG1T.
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   CDG It.
SY   CDG-It.
SY   CDGIt.
SY   Congenital disorder of glycosylation type It.
SY   Glycogen storage disease XIV.
SY   GSD XIV.
SY   GSD14.
SY   PGM1 deficiency.
SY   Phosphoglucomutase 1 deficiency.
DR   MIM; 614921; phenotype.
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 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. Some
DE   CDG1U patients have dystrophic changes seen on muscle biopsy and
DE   reduced O-mannosyl glycans on alpha-dystroglycan.
SY   CDG Iu.
SY   CDG-Iu.
SY   CDGIu.
SY   Congenital disorder of glycosylation type Iu.
DR   MIM; 615042; phenotype.
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 1V.
AC   DI-03774
AR   CDG1V.
DE   A multisystem disorder caused by a defect in glycoprotein biosynthesis
DE   and characterized by under-glycosylated serum glycoproteins.
DE   Characterized by developmental delay, hypotonia, abnormal involuntary
DE   movements and alacrima or poor tear production. Other features include
DE   microcephaly, intractable seizures, abnormal eye movements and
DE   evidence of liver dysfunction, probably due to cytoplasmic
DE   accumulation of storage material in vacuoles. 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   CDDG.
SY   CDG Iv.
SY   CDG-Iv.
SY   CDGIv.
SY   Congenital disorder of deglycosylation.
SY   Congenital disorder of glycosylation type Iv.
DR   MIM; 615273; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1W.
AC   DI-04006
AR   CDG1W.
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   CDG Iw.
SY   CDG-Iw.
SY   CDGIw.
SY   Congenital disorder of glycosylation type Iw.
DR   MIM; 615596; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 1X.
AC   DI-04007
AR   CDG1X.
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   CDG Ix.
SY   CDG-Ix.
SY   CDGIx.
SY   Congenital disorder of glycosylation type Ix.
DR   MIM; 615597; phenotype.
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   CDG IIa.
SY   CDG-IIa.
SY   CDGIIa.
SY   CDGS type II.
SY   Congenital disorder of glycosylation type IIa.
DR   MIM; 212066; phenotype.
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 mental retardation, short stature,
DE   facial stigmata, and recurrent bacterial peripheral infections with
DE   persistently elevated peripheral leukocytes. Biochemically, CDG2C is
DE   characterized by a lack of fucosylated glycoconjugates, including
DE   selectin ligands.
SY   CDG IIc.
SY   CDG-IIc.
SY   CDGIIc.
SY   Congenital disorder of glycosylation type IIc.
SY   LAD2.
SY   Leukocyte adhesion deficiency type II.
DR   MIM; 266265; phenotype.
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   CDG IId.
SY   CDG-IId.
SY   CDGIId.
SY   Congenital disorder of glycosylation type IId.
DR   MIM; 607091; phenotype.
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   CDG IIe.
SY   CDG-IIe.
SY   CDGIIe.
SY   Congenital disorder of glycosylation type IIe.
DR   MIM; 608779; phenotype.
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.
DR   MIM; 603585; phenotype.
//
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 IIg.
SY   CDG-II caused by Cog1 deficiency.
SY   CDG-IIg.
SY   CDGIIg.
SY   Congenital disorder of glycosylation type IIg.
DR   MIM; 611209; phenotype.
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.
DR   MIM; 611182; phenotype.
//
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   CDG IIi.
SY   CDG-IIi.
SY   CDGIIi.
SY   Congenital disorder of glycosylation type IIi.
DR   MIM; 613612; phenotype.
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   CDG IIj.
SY   CDG-IIj.
SY   CDGIIj.
SY   Congenital disorder of glycosylation type IIj.
DR   MIM; 613489; phenotype.
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   CDG IIk.
SY   CDG-IIk.
SY   CDGIIk.
SY   Congenital disorder of glycosylation type IIk.
DR   MIM; 614727; phenotype.
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   CDG IIl.
SY   CDG-IIl.
SY   CDGIIl.
SY   Congenital disorder of glycosylation type IIl.
DR   MIM; 614576; phenotype.
DR   MeSH; D018981.
KW   KW-0900:Congenital disorder of glycosylation.
//
ID   Congenital disorder of glycosylation 2M.
AC   DI-03722
AR   CDG2M.
DE   A disorder characterized by developmental delay, hypotonia, ocular
DE   anomalies, and brain malformations. Othere more variable clinical
DE   features included seizures, hypsarrhythmia, poor feeding,
DE   microcephaly, recurrent infections, dysmorphic features, shortened
DE   limbs, and coagulation defects. Congenital disorders of glycosylation
DE   are caused by a defect in glycoprotein biosynthesis and characterized
DE   by under-glycosylated serum glycoproteins and a wide variety of
DE   clinical features. The broad spectrum of features reflects the
DE   critical role of N-glycoproteins during embryonic development,
DE   differentiation, and maintenance of cell functions.
SY   CDG IIm.
SY   CDG-IIm.
SY   CDGIIm.
SY   Congenital disorder of glycosylation type IIm.
SY   Congenital disorder of glycosylation X-linked.
SY   EIEE22.
SY   Epileptic encephalopathy, early infantile, 22.
DR   MIM; 300896; phenotype.
DR   MeSH; D013036.
DR   MeSH; D018981.
KW   KW-0887:Epilepsy.
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.
//
ID   Congenital fibrosis of extraocular muscles 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   MeSH; D009886.
//
ID   Congenital fibrosis of extraocular muscles 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   MeSH; D009886.
DR   MeSH; D013285.
//
ID   Congenital fibrosis of extraocular muscles 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   MeSH; D009886.
//
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   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   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   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   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.
//
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   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   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   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   MeSH; D008052.
DR   MeSH; D016113.
DR   MeSH; D017880.
KW   KW-0977:Ichthyosis.
//
ID   Congenital indifference to pain autosomal recessive.
AC   DI-01231
AR   CIPAR.
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   MeSH; D000699.
//
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 mental retardation. 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.
DR   MIM; 256800; phenotype.
//
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.
//
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   CLOVE syndrome.
SY   CLOVES syndrome.
SY   Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.
DR   MIM; 612918; phenotype.
DR   MeSH; D001165.
DR   MeSH; D008067.
DR   MeSH; D009506.
//
ID   Congenital myopathy with excess of muscle spindles.
AC   DI-01411
AR   CMEMS.
DE   Variant of Costello syndrome.
DR   MIM; 218040; phenotype.
//
ID   Congenital primary aphakia.
AC   DI-01416
AR   CPA.
DE   Aphakia is a rare congenital eye disorder in which the lens is
DE   missing. It has been histologically subdivided into primary and
DE   secondary forms, in accordance with the severity of defects of the
DE   ocular tissues, whose development requires the initial presence of a
DE   lens. CPA results from an early developmental arrest, around the 4th-
DE   5th week of gestation in humans, that prevents the formation of any
DE   lens structure and leads to severe secondary ocular defects, including
DE   a complete aplasia of the anterior segment of the eye. In contrast, in
DE   secondary aphakic eyes, lens induction has occurred, and the lens
DE   vesicle has developed to some degree but finally has progressively
DE   resorbed perinatally, leading, therefore, to less-severe ocular
DE   defects.
DR   MIM; 610256; phenotype.
//
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   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   MeSH; D012778.
//
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.
//
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.
DR   MIM; 610015; phenotype.
//
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   MeSH; D004310.
DR   MeSH; D014339.
//
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   MeSH; D020820.
DR   MeSH; D020936.
KW   KW-0887:Epilepsy.
//
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   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   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   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, endothelial 2, autosomal recessive.
AC   DI-01430
AR   CHED2.
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   Congenital hereditary endothelial corneal dystrophy.
SY   Congenital hereditary endothelial dystrophy of cornea.
SY   Maumenee corneal dystrophy.
DR   MIM; 217700; phenotype.
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   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   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   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   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   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   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   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.
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   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   MeSH; D003317.
DR   MeSH; D028226.
KW   KW-1008:Amyloidosis.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal dystrophy, Meesmann.
AC   DI-01959
AR   MECD.
DE   An autosomal dominant corneal disease characterized by fragility of
DE   the anterior corneal epithelium. Patients are usually asymptomatic
DE   until adulthood when rupture of the corneal microcysts may cause
DE   erosions, producing clinical symptoms such as photophobia, contact
DE   lens intolerance and intermittent diminution of visual acuity. Rarely,
DE   subepithelial scarring causes irregular corneal astigmatism and
DE   permanent visual impairment. Histological examination shows a
DE   disorganized and thickened epithelium with widespread cytoplasmic
DE   vacuolation and numerous small, round, debris-laden intraepithelial
DE   cysts.
SY   Juvenile epithelial corneal dystrophy of Meesmann.
SY   MCD.
SY   Meesmann corneal dystrophy.
SY   Meesmann epithelial corneal dystrophy.
DR   MIM; 122100; phenotype.
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   Hereditary polymorphous posterior corneal dystrophy.
SY   PPCD.
DR   MIM; 122000; phenotype.
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   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   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   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   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   MeSH; D003317.
KW   KW-1212:Corneal dystrophy.
//
ID   Corneal intraepithelial dyskeratosis and ectodermal dysplasia.
AC   DI-03762
AR   CIDED.
DE   A disease characterized by keratopathy with neovascularization,
DE   bilateral corneal opacification, palmoplantar hyperkeratosis,
DE   dyshidrosis, and dystrophic nails.
DR   MIM; 615225; phenotype.
DR   MeSH; D003316.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Corneal opacification with other ocular anomalies.
AC   DI-04168
AR   COPOA.
DE   An ocular disease characterized by sclerocornea associated with other
DE   ocular anomalies, such as cataract, microcornea, microphthalmia, and
DE   anterior segment dysgenesis. Sclerocornea is a primary anomaly in
DE   which scleralization of a peripheral part of the cornea, or the entire
DE   corneal tissue, occurs. In the peripheral type of sclerocornea, the
DE   affected area is vascularized with regular arcades of superficial
DE   scleral vessels. In total sclerocornea, the entire cornea is opaque
DE   and vascularized.
SY   Sclerocornea with other ocular anomalies.
DR   MIM; 269400; phenotype.
DR   MeSH; D003316.
//
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   MeSH; D003635.
KW   KW-0991:Mental retardation.
//
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   MeSH; D003635.
KW   KW-0991:Mental retardation.
//
ID   Cornelia de Lange syndrome 3.
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 mental
DE   retardation.
DR   MIM; 610759; phenotype.
DR   MeSH; D003635.
KW   KW-0991:Mental retardation.
//
ID   Cornelia de Lange syndrome 4.
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   MeSH; D003635.
KW   KW-0991:Mental retardation.
//
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   MeSH; D003635.
KW   KW-0991:Mental retardation.
//
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   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   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   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   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   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 mental retardation,
DE   strabismus, axial hypotonia, and spasticity. Brain imaging shows
DE   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   MeSH; D054081.
//
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   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   MeSH; D054081.
//
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   MeSH; D054081.
//
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   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   MeSH; D054081.
//
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 mental retardation develop.
DR   MIM; 610042; phenotype.
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   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.
//
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.
//
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.
//
ID   Cortisone reductase deficiency.
AC   DI-01436
AR   CRD.
DE   In CRD, activation of cortisone to cortisol does not occur, resulting
DE   in adrenocorticotropin-mediated androgen excess and a phenotype
DE   resembling polycystic ovary syndrome (PCOS).
DR   MIM; 604931; phenotype.
//
ID   Costello syndrome.
AC   DI-01437
AR   CSTLO.
DE   A rare condition characterized by prenatally increased growth,
DE   postnatal growth deficiency, mental retardation, distinctive facial
DE   appearance, cardiovascular abnormalities (typically pulmonic stenosis,
DE   hypertrophic cardiomyopathy and/or atrial tachycardia), tumor
DE   predisposition, skin and musculoskeletal abnormalities.
SY   Faciocutaneoskeletal syndrome.
SY   FCS syndrome.
SY   FCSS.
DR   MIM; 218040; phenotype.
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   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.
//
ID   Cowchock syndrome.
AC   DI-03693
AR   COWCK.
DE   An X-linked recessive neuromuscular disorder characterized by early
DE   childhood onset of a slowly progressive axonal sensorimotor neuropathy
DE   associated in some patients with sensorineural deafness and cognitive
DE   impairment.
SY   Axonal motor-sensory neuropathy with deafness and mental retardation.
SY   Charcot-Marie-Tooth disease with deafness and mental retardation.
SY   Charcot-Marie-Tooth disease X-linked recessive 4.
SY   CMTX4.
SY   NADMR.
SY   NAMSD.
DR   MIM; 310490; phenotype.
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:Mental retardation.
//
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   CD.
SY   Cowden disease.
SY   CS.
SY   MHAM.
SY   Multiple hamartoma syndrome.
SY   PHTS.
SY   PTEN hamartoma tumor syndrome.
DR   MIM; 158350; phenotype.
DR   MeSH; D006223.
//
ID   Cowden syndrome 2.
AC   DI-01441
AR   CWS2.
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; 612359; phenotype.
DR   MeSH; D006223.
//
ID   Cowden syndrome 3.
AC   DI-03694
AR   CWS3.
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; 615106; phenotype.
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   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   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   MeSH; D006223.
//
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   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   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   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   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   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   MeSH; D019465.
//
ID   Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome.
AC   DI-03178
AR   CFSMR.
DE   A disorder characterized by craniofacial and skeletal anomalies,
DE   associated with mental retardation. Typical craniofacial dysmorphism
DE   include brachycephaly, highly arched bushy eyebrows, synophrys, long
DE   eyelashes, low-set ears, microdontism of primary teeth, and
DE   generalized gingival hyperplasia, whereas Sprengel deformity of
DE   scapula, fusion of spine, rib abnormities, pectus excavatum, and pes
DE   planus represent skeletal anomalies.
SY   Cerebro-facio-thoracic dysplasia.
SY   Cerebrofaciothoracic dysplasia.
SY   TMCO1 defect syndrome.
DR   MIM; 213980; phenotype.
DR   MeSH; D008607.
DR   MeSH; D009139.
DR   MeSH; D019465.
KW   KW-0991:Mental retardation.
//
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.
//
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 dysplasia.
DR   MIM; 304110; phenotype.
//
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   Cranio-lenticulo-sutural dysplasia.
DR   MIM; 607812; phenotype.
//
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   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   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   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   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   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   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   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   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   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
//
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.
//
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.
//
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.
//
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   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.
//
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.
//
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.
//
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   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   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   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   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   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 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.
SY   Cutis laxa, Debre type.
DR   MIM; 219200; phenotype.
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   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   Cutis laxa corneal clouding and mental retardation.
SY   De Barsy syndrome.
SY   De Barsy syndrome A.
SY   Developmental delay-choreoathetosis-joint dislocation-lax skin.
SY   Mental retardation joint hypermobility and skin laxity with or without metabolic abnormalities.
SY   Neurocutaneous syndrome Bicknell type.
SY   Progeroid syndrome of De Barsy.
DR   MIM; 219150; phenotype.
DR   MeSH; D003318.
DR   MeSH; D003483.
DR   MeSH; D008607.
KW   KW-0991:Mental retardation.
//
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   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   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.
//
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   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, mental retardation,
DE   skeletal anomalies resembling Marfan syndrome, and thromboembolic
DE   events. Light skin and hair can also be present. Biochemical features
DE   include increased urinary homocystine and 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   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.
DR   MIM; 219500; phenotype.
//
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   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   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   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   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   MeSH; D003555.
KW   KW-0199:Cystinuria.
//
ID   Cytosolic phosphoenolpyruvate carboxykinase deficiency.
AC   DI-01470
AR   C-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; 261680; phenotype.
//
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   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   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   MeSH; D020739.
//
ID   D-bifunctional protein deficiency.
AC   DI-01471
AR   DBPD.
DE   Disorder of peroxisomal fatty acid beta-oxidation.
DR   MIM; 261515; phenotype.
//
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   mental retardation and early death, to milder manifestations with only
DE   speech delay or even normal development.
SY   D-glyceric acidemia.
SY   Glycerate kinase deficiency.
DR   MIM; 220120; phenotype.
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 mental
DE   retardation. It is often associated with an accumulation of glycogen
DE   in muscle and lysosomes.
SY   Glycogen storage disease IIb.
SY   GSD-IIb.
SY   GSD2B.
SY   Lysosomal glycogen storage disease without acid maltase deficiency.
SY   Pseudoglycogenosis II.
SY   Vacuolar cardiomyopathy and myopathy X-linked.
DR   MIM; 300257; phenotype.
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 mental retardation,
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   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 mental retardation, 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   MeSH; D008607.
DR   MeSH; D014983.
KW   KW-0242:Dwarfism.
KW   KW-0857:Xeroderma pigmentosum.
KW   KW-0991:Mental retardation.
//
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   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.
//
ID   Deafness, autosomal dominant, 1.
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.
SY   Hereditary low-frequency hearing loss.
SY   Hereditary low-frequency sensorineural hearing loss.
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   MeSH; D006319.
KW   KW-1010:Non-syndromic 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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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 post-lingual onset.
DR   MIM; 615629; phenotype.
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   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   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 post-lingual
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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, autosomal recessive, 70.
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.
DR   MIM; 614934; phenotype.
DR   MeSH; D003638.
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   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   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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, dystonia, and cerebral hypomyelination.
AC   DI-03930
AR   DDCH.
DE   An X-linked recessive mental retardation syndrome characterized by
DE   almost no psychomotor development, dysmorphic facial features,
DE   sensorineural deafness, dystonia, pyramidal signs, and hypomyelination
DE   on brain imaging.
DR   MIM; 300475; phenotype.
DR   MeSH; D004421.
DR   MeSH; D006319.
DR   MeSH; D008607.
KW   KW-0209:Deafness.
KW   KW-0991:Mental retardation.
KW   KW-1023:Dystonia.
//
ID   Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome.
AC   DI-03992
AR   DOORS.
DE   A syndrome characterized by sensorineural deafness, mental
DE   retardation, 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   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:Mental retardation.
//
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   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
ID   Deafness, sensorineural, with hypertrophic cardiomyopathy.
AC   DI-01013
AR   DFNHCM.
DE   An autosomal dominant sensorineural deafness associated with
DE   hypertrophic cardiomyopathy.
DR   MIM; 606346; phenotype.
DR   MeSH; D002312.
DR   MeSH; D006319.
KW   KW-0122:Cardiomyopathy.
KW   KW-0209: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   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 perilymph Gusher X-linked.
SY   Deafness mixed with perilymphatic gusher.
SY   Deafness X-linked 2 with non-syndromic mental retardation.
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   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   MeSH; D006319.
KW   KW-1010:Non-syndromic deafness.
//
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   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.
DR   MIM; 611102; phenotype.
//
ID   Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema.
AC   DI-03801
AR   DHS.
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   Familial pseudohyperkalemia 1 due to red cell leak.
SY   Hereditary desiccytosis.
SY   Hereditary xerocytosis.
SY   Pseudohyperkalemia Edinburgh.
SY   PSHK1.
DR   MIM; 194380; phenotype.
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   HMSN III.
SY   HMSN3.
SY   Hypertrophic neuropathy of Dejerine-Sottas.
DR   MIM; 145900; phenotype.
DR   MeSH; D015417.
KW   KW-0144:Charcot-Marie-Tooth disease.
KW   KW-0213:Dejerine-Sottas syndrome.
KW   KW-0523:Neurodegeneration.
//
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   MeSH; D020178.
//
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   MeSH; D020961.
KW   KW-0026:Alzheimer disease.
KW   KW-0523:Neurodegeneration.
KW   KW-0908:Parkinsonism.
//
ID   Dent disease 2.
AC   DI-00386
AR   DD2.
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. 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   MeSH; D015499.
//
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.
//
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   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   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   Pulp stones.
SY   Pulpal dysplasia.
DR   MIM; 125420; phenotype.
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   DGI-II.
SY   DGI1.
SY   Non-syndromic dentinogenesis imperfecta.
SY   Non-syndromic DGI.
SY   Opalescent dentin.
SY   Opalescent teeth without osteogenesis imperfecta.
DR   MIM; 125490; phenotype.
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   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.
//
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   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   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
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   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.
DR   MIM; 615777; phenotype.
DR   MeSH; D004392.
DR   MeSH; D007593.
DR   MeSH; D019465.
KW   KW-0242:Dwarfism.
//
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.
//
ID   Diabetes insipidus, nephrogenic, autosomal.
AC   DI-00390
AR   ANDI.
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   MeSH; D018500.
KW   KW-0218:Diabetes insipidus.
//
ID   Diabetes insipidus, nephrogenic, X-linked.
AC   DI-00391
AR   XNDI.
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.
DR   MIM; 304800; phenotype.
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   MeSH; D020790.
KW   KW-0218:Diabetes insipidus.
//
ID   Diabetes mellitus, insulin-dependent.
AC   DI-01826
AR   IDDM.
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.
DR   MIM; 222100; phenotype.
DR   MeSH; D003922.
//
ID   Diabetes mellitus, insulin-dependent, 10.
AC   DI-02776
AR   IDDM10.
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.
DR   MIM; 601942; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, insulin-dependent, 12.
AC   DI-02777
AR   IDDM12.
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   Insulin-dependent diabetes mellitus 12.
DR   MIM; 601388; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, insulin-dependent, 19.
AC   DI-02778
AR   IDDM19.
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.
DR   MIM; 610155; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, insulin-dependent, 2.
AC   DI-02788
AR   IDDM2.
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.
DR   MIM; 125852; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, insulin-dependent, 20.
AC   DI-02779
AR   IDDM20.
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.
DR   MIM; 612520; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, insulin-dependent, 22.
AC   DI-02780
AR   IDDM22.
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.
DR   MIM; 612522; phenotype.
DR   MeSH; D003922.
KW   KW-0219:Diabetes mellitus.
//
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   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   MeSH; D003409.
DR   MeSH; D003920.
KW   KW-0219:Diabetes mellitus.
KW   KW-0984:Congenital hypothyroidism.
//
ID   Diabetes mellitus, non-insulin-dependent.
AC   DI-02060
AR   NIDDM.
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.
SY   T2D.
DR   MIM; 125853; phenotype.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, non-insulin-dependent, 1.
AC   DI-02781
AR   NIDDM1.
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.
DR   MIM; 601283; phenotype.
DR   MeSH; D003924.
KW   KW-0219:Diabetes mellitus.
//
ID   Diabetes mellitus, permanent neonatal.
AC   DI-02152
AR   PNDM.
DE   A rare form of diabetes distinct from childhood-onset autoimmune
DE   diabetes mellitus type 1. It is characterized by insulin-requiring
DE   hyperglycemia that is diagnosed within the first months of life.
DE   Permanent neonatal diabetes requires lifelong therapy.
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   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 syndrome.
SY   Aase-Smith syndrome II.
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   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   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   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   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   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   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   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   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 syndrome.
SY   Aase-Smith syndrome II.
DR   MIM; 612561; phenotype.
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   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   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   MeSH; D029503.
KW   KW-1024:Diamond-Blackfan anemia.
//
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   MeSH; D004413.
//
ID   Diaphragmatic hernia 3.
AC   DI-01485
AR   DIH3.
DE   Form of congenital diaphragmatic hernia (CDH). CDH refers to a group
DE   of congenital defects in the structural integrity of the diaphragm
DE   associated with often lethal pulmonary hypoplasia and pulmonary
DE   hypertension.
DR   MIM; 610187; phenotype.
//
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   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   MeSH; D003968.
//
ID   Diarrhea 2, with microvillus atrophy.
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.
SY   MVID.
DR   MIM; 251850; phenotype.
DR   MeSH; D003968.
//
ID   Diarrhea 3, secretory sodium, congenital.
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.
DR   MIM; 270420; phenotype.
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   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   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   MeSH; D003967.
//
ID   Diarrhea 7.
AC   DI-04130
AR   DIAR7.
DE   A life-threatening disease characterized by severe, intractable,
DE   watery diarrhea.
DR   MIM; 615863; phenotype.
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   Diastrophic dwarfism.
DR   MIM; 222600; phenotype.
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 mental retardation.
SY   Glutamate-aspartate transport defect.
DR   MIM; 222730; phenotype.
DR   MeSH; D000608.
DR   MeSH; D008607.
//
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   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   MeSH; D006226.
DR   MeSH; D059327.
//
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   MeSH; D000140.
DR   MeSH; D008375.
//
ID   Dihydropyrimidinase deficiency.
AC   DI-01483
AR   DHPD.
DE   A disorder characterized by dihydropyrimidinuria and associated with a
DE   variable clinical phenotype characterized by epileptic or convulsive
DE   attacks, dysmorphic features and severe developmental delay, and
DE   congenital microvillous atrophy.
SY   Dihydropyrimidinuria due to DPYS deficiency.
SY   DPH deficiency.
SY   DPYS deficiency.
DR   MIM; 222748; phenotype.
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 mental
DE   retardation. 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   MeSH; D054067.
//
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   MeSH; D000312.
KW   KW-0954:Congenital adrenal hyperplasia.
//
ID   Disseminated superficial actinic porokeratosis 1.
AC   DI-01490
AR   DSAP1.
DE   Autosomal dominant disorder, characterized by multiple superficial
DE   keratotic lesions surrounded by a slightly raised keratotic border,
DE   developing during the third or fourth decade of life on sun-exposed
DE   areas of skin.
DR   MIM; 175900; phenotype.
//
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.
//
ID   Distal spinal muscular atrophy, autosomal recessive, 4.
AC   DI-00405
AR   DSMA4.
DE   A neuromuscular disorder. Distal spinal muscular atrophy, also known
DE   as distal hereditary motor neuronopathy, represents a heterogeneous
DE   group of neuromuscular disorders caused by selective degeneration of
DE   motor 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. DSMA4 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.
DR   MIM; 611067; phenotype.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Distal spinal muscular atrophy, autosomal recessive, 5.
AC   DI-03602
AR   DSMA5.
DE   An autosomal recessive neurologic disorder characterized by young
DE   adult onset of slowly progressive distal muscle weakness and atrophy
DE   resulting in gait impairment and loss of reflexes due to impaired
DE   function of motor nerves. Sensation and cognition are not impaired.
DR   MIM; 614881; phenotype.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Distal spinal muscular atrophy, congenital non-progressive.
AC   DI-02688
AR   DSMAC.
DE   A clinically variable, neuromuscular disorder characterized by
DE   congenital lower motor neuron disorder restricted to the lower part of
DE   the body. Clinical manifestations include non-progressive muscular
DE   atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and
DE   foot extensors, minimal jaw muscle and neck flexor weakness, flexion
DE   contractures of knees and pes equinovarus. Tendon reflexes are normal.
SY   Spinal muscular atrophy congenital benign with contractures.
DR   MIM; 600175; phenotype.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
ID   Distal spinal muscular atrophy, X-linked, 3.
AC   DI-02799
AR   DSMAX3.
DE   A neuromuscular disorder. Distal spinal muscular atrophy, also known
DE   as distal hereditary motor neuronopathy, represents a heterogeneous
DE   group of neuromuscular disorders caused by selective degeneration of
DE   motor 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   DSMAX.
SY   SMAX3.
SY   Spinal muscular atrophy distal X-linked recessive.
DR   MIM; 300489; phenotype.
DR   MeSH; D009134.
KW   KW-0523:Neurodegeneration.
//
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.
//
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.
//
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   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.
//
ID   Donnai-Barrow syndrome.
AC   DI-01501
AR   DBS.
DE   Rare autosomal recessive disorder characterized by major malformations
DE   including agenesis of the corpus callosum, congenital diaphragmatic
DE   hernia, facial dysmorphology, ocular anomalies, sensorineural hearing
DE   loss and developmental delay. The FOAR syndrome was first described as
DE   comprising facial anomalies, ocular anomalies, sensorineural hearing
DE   loss, and proteinuria. DBS and FOAR were first described as distinct
DE   disorders but the classic distinguishing features between the 2
DE   disorders were presence of proteinuria and absence of diaphragmatic
DE   hernia and corpus callosum anomalies in FOAR. Early reports noted that
DE   the 2 disorders shared many phenotypic features and may be identical.
DE   Although there is variability in the expression of some features
DE   (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR
DE   are now considered to represent the same entity.
SY   Facio-oculo-acoustico-renal syndrome.
SY   Faciooculoacousticorenal syndrome.
SY   FOAR syndrome.
DR   MIM; 222448; phenotype.
//
ID   Dopamine beta-hydroxylase deficiency.
AC   DI-01502
AR   DBH deficiency.
DE   Characterized by profound deficits in autonomic and cardiovascular
DE   function, but apparently only subtle signs, if any, of central nervous
DE   system dysfunction.
SY   Noradrenaline deficiency.
SY   Norepinephrine deficiency.
DR   MIM; 223360; phenotype.
//
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   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   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   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.
//
ID   Du Pan syndrome.
AC   DI-01505
AR   DPS.
DE   Rare autosomal recessive condition characterized by absence of the
DE   fibulae and severe acromesomelic limb shortening with small, non-
DE   functional toes. Although milder, the phenotype resembles the
DE   autosomal recessive Hunter-Thompson and Grebe types of acromesomelic
DE   chondrodysplasia.
SY   Fibular hypoplasia and complex brachydactyly.
DR   MIM; 228900; phenotype.
//
ID   Duane retraction syndrome 2.
AC   DI-01506
AR   DURS2.
DE   Duane retraction syndrome is a congenital eye movement disorder
DE   characterized by a failure of cranial nerve VI (the abducens nerve) to
DE   develop normally, resulting in restriction or absence of abduction,
DE   adduction, or both, and 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.
//
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.
//
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.
//
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.
//
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   MeSH; D009503.
//
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   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   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   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   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   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   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   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   MeSH; D012164.
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   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   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   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   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   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   MeSH; D019871.
KW   KW-1011:Dyskeratosis congenita.
//
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   MeSH; D020385.
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.
//
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.
//
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.
//
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 musculorum deformans 1.
SY   Dystonia-1.
SY   Early-onset torsion dystonia.
SY   EOTD.
SY   Oppenheim's dystonia.
SY   Oppenheim-Ziehen disease.
DR   MIM; 128100; phenotype.
DR   MeSH; D004422.
KW   KW-1023:Dystonia.
//
ID   Dystonia 11.
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   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   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   MeSH; D004421.
KW   KW-0908:Parkinsonism.
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   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   MeSH; D004421.
KW   KW-1023:Dystonia.
//
ID   Dystonia 3, torsion, X-linked.
AC   DI-00414
AR   DYT3.
DE   A 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   X-linked dystonia-parkinsonism.
SY   X-linked torsion dystonia 3.
SY   XDP.
DR   MIM; 314250; phenotype.
DR   MeSH; D004421.
KW   KW-0908:Parkinsonism.
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 musculorum deformans 4.
SY   Dystonia-4.
SY   Hereditary whispering dysphonia.
DR   MIM; 128101; phenotype.
DR   MeSH; D004422.
KW   KW-1023:Dystonia.
//
ID   Dystonia 5.
AC   DI-00415
AR   DYT5.
DE   A DOPA-responsive dystonia. Dystonia is defined by the presence of
DE   sustained involuntary muscle contractions, often leading to abnormal
DE   postures. DYT5 typically presents in childhood with walking problems
DE   due to dystonia of the lower limbs and worsening of the dystonia
DE   towards the evening. It is characterized by postural and motor
DE   disturbances showing marked diurnal fluctuation. Torsion of the trunk
DE   is unusual. Symptoms are alleviated after sleep and aggravated by
DE   fatigue and exercise. There is a favorable response to L-DOPA without
DE   side effects.
SY   Autosomal dominant dopa-responsive dystonia.
SY   Autosomal dominant Segawa syndrome.
SY   DRD.
SY   Dystonia-5.
SY   Dystonia-parkinsonism with diurnal fluctuation.
SY   Progressive dystonia with diurnal fluctuation.
DR   MIM; 128230; phenotype.
DR   MeSH; D004421.
DR   MeSH; D020821.
KW   KW-0908:Parkinsonism.
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   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   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   MeSH; D002819.
DR   MeSH; D009128.
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   MeSH; D004421.
DR   MeSH; D011596.
KW   KW-1023:Dystonia.
//
ID   Dystonia, juvenile-onset.
AC   DI-00412
AR   DYTJ.
DE   A form of dystonia with juvenile onset. Dystonia is defined by the
DE   presence of sustained involuntary muscle contraction, often leading to
DE   abnormal postures. Patients with juvenile-onset dystonia manifest
DE   progressive, generalized, dopa-unresponsive dystonia, developmental
DE   malformations and sensory hearing loss.
SY   Developmental malformations-deafness-dystonia.
DR   MIM; 607371; phenotype.
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   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   MeSH; D009223.
DR   MeSH; D020967.
//
ID   Eagle-Barrett syndrome.
AC   DI-03312
AR   EGBRS.
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   Prune belly syndrome.
DR   MIM; 100100; phenotype.
DR   MeSH; D011535.
//
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   MeSH; D006973.
//
ID   Early-onset myopathy with fatal cardiomyopathy.
AC   DI-01514
AR   EOMFC.
DE   Early-onset myopathies are inherited muscle disorders that manifest
DE   typically from birth or infancy with hypotonia, muscle weakness, and
DE   delayed motor development. EOMFC is a titinopathy that, in contrast
DE   with the previously described examples, involves both heart and
DE   skeletal muscle, has a congenital onset, and is purely recessive. This
DE   phenotype is due to homozygous out-of-frame TTN deletions, which lead
DE   to a total absence of titin's C-terminal end from striated muscles and
DE   to secondary CAPN3 depletion.
DR   MIM; 611705; phenotype.
//
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   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   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   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   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   MeSH; D004476.
DR   MeSH; D053360.
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   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   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   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   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   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked.
AC   DI-00424
AR   EDAID.
DE   A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures.
DE   Characterized by absence of sweat glands, sparse scalp hair, rare
DE   conical teeth and immunological abnormalities resulting in severe
DE   infectious diseases.
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   XHM-ED.
DR   MIM; 300291; phenotype.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema.
AC   DI-00423
AR   OLEDAID.
DE   A form of ectoderma dysplasia, a heterogeneous group of disorders due
DE   to abnormal development of two or more ectodermal structures.
DE   Characterized by the association of anhidrotic ectodermal dysplasia
DE   with severe immunodeficiency, osteopetrosis and lymphedema.
DR   MIM; 300301; phenotype.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-0987:Osteopetrosis.
//
ID   Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant.
AC   DI-00425
AR   ADEDAID.
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.
SY   Ectodermal dysplasia hypohidrotic with immunodeficiency.
SY   HED-ID.
DR   MIM; 612132; phenotype.
DR   MeSH; D004476.
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   Ectodermal dysplasia-cleft lip/palate-mental retardation-syndactyly.
SY   ED4.
SY   Margarita Island ectodermal dysplasia.
SY   Syndactyly-ectodermal dysplasia-cleft lip/palate.
SY   Zlotogora-Ogur syndrome.
DR   MIM; 225060; phenotype.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, Rapp-Hodgkin type.
AC   DI-00428
AR   EDRH.
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.
SY   Anhidrotic ectodermal dysplasia with cleft lip/palate.
SY   Rapp-Hodgkin ectodermal dysplasia.
SY   Rapp-Hodgkin syndrome.
SY   RHS.
DR   MIM; 129400; phenotype.
DR   MeSH; D004476.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ectodermal dysplasia, with ectrodactyly and macular dystrophy.
AC   DI-00433
AR   EEM.
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   MeSH; D004476.
DR   MeSH; D008268.
DR   MeSH; D017880.
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   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   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   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   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; 225200; phenotype.
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   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   MeSH; D002972.
DR   MeSH; D004476.
DR   MeSH; D017880.
KW   KW-0038:Ectodermal dysplasia.
//
ID   Ehlers-Danlos syndrome 1.
AC   DI-00436
AR   EDS1.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos
DE   syndrome.
SY   EDS I.
SY   Ehlers-Danlos syndrome gravis type.
SY   Ehlers-Danlos syndrome severe classic type.
DR   MIM; 130000; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 2.
AC   DI-00437
AR   EDS2.
DE   Mild form of classic Ehlers-Danlos syndrome.
SY   EDS II.
SY   Ehlers-Danlos syndrome mild classic type.
SY   Ehlers-Danlos syndrome mitis type.
DR   MIM; 130010; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 3.
AC   DI-00438
AR   EDS3.
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.
DR   MIM; 130020; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 4.
AC   DI-00439
AR   EDS4.
DE   The most severe form of Ehlers-Danlos syndrome, a connective tissue
DE   disorder characterized by hyperextensible skin, atrophic cutaneous
DE   scars due to tissue fragility and joint hyperlaxity. Characterized by
DE   the joint and dermal manifestations as in other forms of the syndrome,
DE   characteristic facial features (acrogeria) in most patients, and by
DE   proneness to spontaneous rupture of bowel and large arteries. The
DE   vascular complications may affect all anatomical areas.
SY   EDS IV.
SY   Ehlers-Danlos syndrome arterial type.
SY   Ehlers-Danlos syndrome ecchymotic type.
SY   Ehlers-Danlos syndrome vascular type.
SY   Sack-Barabas syndrome.
DR   MIM; 130050; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 6.
AC   DI-00440
AR   EDS6.
DE   A connective tissue disorder characterized by generalized joint
DE   hypermobility, hyperextensible skin, atrophic cutaneous scars due to
DE   tissue fragility, progressive kyphoscoliosis already present at birth,
DE   ocular manifestations, arterial rupture, easy bruising, severe
DE   neonatal muscle hypotonia and delayed motor development.
SY   EDS VI.
SY   EDS VIA.
SY   EDS6A.
SY   Ehlers-Danlos syndrome kyphoscoliotic type.
SY   Ehlers-Danlos syndrome oculoscoliotic type.
SY   Nevo syndrome.
DR   MIM; 225400; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 7A.
AC   DI-00442
AR   EDS7A.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. Marked by bilateral congenital hip dislocation,
DE   hyperlaxity of the joints, and recurrent partial dislocations.
SY   Arthrochalasis multiplex congenita.
SY   EDS VII mutant procollagen type.
SY   EDS VIIA.
SY   Ehlers-Danlos syndrome arthrochalasia type.
SY   Ehlers-Danlos syndrome arthrochalasic type.
SY   Ehlers-Danlos syndrome type VII autosomal dominant.
DR   MIM; 130060; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 7B.
AC   DI-00443
AR   EDS7B.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. Marked by bilateral congenital hip dislocation,
DE   hyperlaxity of the joints, and recurrent partial dislocations.
SY   Arthrochalasis multiplex congenita.
SY   EDS VII mutant procollagen type.
SY   EDS VIIB.
SY   Ehlers-Danlos syndrome arthrochalasia type.
SY   Ehlers-Danlos syndrome arthrochalasic type.
SY   Ehlers-Danlos syndrome type VII autosomal dominant.
DR   MIM; 130060; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome 7C.
AC   DI-00444
AR   EDS7C.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. Marked by extremely fragile tissues, hyperextensible skin
DE   and easy bruising. Facial skin contains numerous folds, as in the
DE   cutis laxa syndrome.
SY   Dermatosparaxis.
SY   EDS VIIC.
SY   Ehlers-Danlos syndrome arthrochalasic type.
SY   Ehlers-Danlos syndrome dermatosparaxis type.
SY   Ehlers-Danlos syndrome type VII autosomal recessive.
DR   MIM; 225410; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.
AC   DI-01317
AR   EDSCV.
DE   A connective tissue disorder characterized by hyperextensible skin,
DE   atrophic cutaneous scars due to tissue fragility and joint
DE   hyperlaxity. In addition to joint laxity, skin hyperextensibility and
DE   friability, and abnormal scar formation, patients have mitral valve
DE   prolapse and insufficiency, mitral regurgitation, and aortic
DE   insufficiency.
SY   Ehlers-Danlos syndrome cardiac valvular type.
DR   MIM; 225320; phenotype.
DR   MeSH; D004535.
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   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   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, progeroid type, 1.
AC   DI-00435
AR   EDSP1.
DE   A variant form of Ehlers-Danlos syndrome characterized by progeroid
DE   facies, mild mental retardation, short stature, skin
DE   hyperextensibility, moderate skin fragility, joint hypermobility
DE   principally in digits.
SY   Defective biosynthesis of proteodermatan sulfate.
SY   Galactosyltransferase I deficiency.
SY   XGPT deficiency.
SY   Xylosylprotein 4-beta-galactosyltransferase deficiency.
DR   MIM; 130070; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, progeroid type, 2.
AC   DI-03844
AR   EDSP2.
DE   A variant form of Ehlers-Danlos syndrome characterized by an aged
DE   appearance, developmental delay, short stature, craniofacial
DE   disproportion, generalized osteopenia, defective wound healing,
DE   hypermobile joints, hypotonic muscles, and loose but elastic skin.
DR   MIM; 615349; phenotype.
DR   MeSH; D004535.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.
AC   DI-03408
AR   EDSKMH.
DE   A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB
DE   on the one hand, and the collagen VI-related congenital myopathies
DE   Ullrich congenital muscular dystrophy and Bethlem myopathy on the
DE   other hand. Clinically, this disorder is characterized by the
DE   following features: severe generalized hypotonia at birth with marked
DE   muscle weakness that improve in infancy; early-onset progressive
DE   kyphoscoliosis; joint hypermobility without contractures; hyperelastic
DE   skin with follicular hyperkeratosis, easy bruising, and occasional
DE   abnormal scarring; myopathy; hearing impairment, which is
DE   predominantly sensorineural; normal ratio of lysyl pyridinoline to
DE   hydroxylysyl pyridinoline (LP/HP) in urine.
DR   MIM; 614557; phenotype.
DR   MeSH; D004535.
DR   MeSH; D034381.
KW   KW-0209:Deafness.
KW   KW-0248:Ehlers-Danlos syndrome.
//
ID   Ehlers-Danlos syndrome-like spondylocheirodysplasia.
AC   DI-01517
AR   SCD-EDS.
DE   Spondylocheiro dysplastic form of Ehlers-Danlos syndrome. The syndrome
DE   consists of a generalized skeletal dysplasia involving mainly the
DE   spine (spondylo) and striking clinical abnormalities of the hands
DE   (cheiro) in addition to the EDS-like features. Clinical features
DE   included 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. Patients
DE   have thin, hyperelastic skin and hypermobile small joints consistent
DE   with an Ehlers-Danlos-like phenotype. Radiologic features included
DE   mild to moderate platyspondyly, mild to moderate osteopenia of the
DE   spine, small ileum, flat proximal femoral epiphyses, short, wide
DE   femoral necks, and broad metaphyses (elbows, knees, wrists, and
DE   interphalangeal joints).
DR   MIM; 612350; phenotype.
//
ID   Eiken skeletal dysplasia.
AC   DI-01518
AR   EISD.
DE   A rare skeletal dysplasia characterized by severely retarded
DE   ossification, principally of the epiphyses, pelvis, hands and feet, as
DE   well as by abnormal modeling of the bones in hands and feet, abnormal
DE   persistence of cartilage in the pelvis and mild growth retardation.
SY   Bone modeling defect of hands and feet.
SY   Eiken syndrome.
DR   MIM; 600002; phenotype.
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   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   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   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, 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; 182870; gene+phenotype.
DR   MeSH; D004612.
KW   KW-0250:Elliptocytosis.
//
ID   Elliptocytosis 4.
AC   DI-00448
AR   EL4.
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; 109270; gene+phenotype.
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   MeSH; D004613.
KW   KW-0038:Ectodermal dysplasia.
KW   KW-1186:Ciliopathy.
//
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   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   EMD2.
SY   Hauptmann-Thannhauser muscular dystrophy.
SY   Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant.
SY   Scapuloilioperoneal atrophy with cardiopathy.
DR   MIM; 181350; phenotype.
DR   MeSH; D020389.
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; 181350; phenotype.
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   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   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   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   MeSH; D020389.
KW   KW-1067:Emery-Dreifuss muscular dystrophy.
//
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   ANE.
SY   Encephalopathy acute infection-induced 3.
SY   Encephalopathy acute necrotizing.
DR   MIM; 608033; phenotype.
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   MeSH; D018792.
//
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   MeSH; D020271.
KW   KW-0523:Neurodegeneration.
//
ID   Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission.
AC   DI-03357
AR   EMPF.
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.
DR   MIM; 614388; phenotype.
DR   MeSH; D000015.
//
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, mental retardation, microcephaly,
DE   seizures. Additional features include respiratory insufficiency and
DE   central hypoventilation, gastroesophageal reflux, axial hypotonia,
DE   hyperreflexia and dyskinetic movements.
DR   MIM; 300673; phenotype.
DR   MeSH; D001927.
//
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   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   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.
//
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   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   MeSH; D010009.
//
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.
//
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.
//
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   MeSH; D007960.
//
ID   Epidermodysplasia verruciformis.
AC   DI-01531
AR   EV.
DE   Rare autosomal recessive genodermatosis associated with a high risk of
DE   skin carcinoma that results from an abnormal susceptibility to
DE   infection by specific human papillomaviruses. Infection leads to
DE   persistent wart-like or macular lesions.
DR   MIM; 226400; phenotype.
//
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   Autosomal dominant dystrophic epidermolysis bullosa.
DR   MIM; 131750; phenotype.
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 to mild forms with limited and localized scarring, and less
DE   frequent extracutaneous manifestations. Mild forms include
DE   epidermolysis bullosa mitis and epidermolysis bullosa localisata.
SY   Autosomal recessive dystrophic epidermolysis bullosa.
DR   MIM; 226600; phenotype.
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   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, Hallopeau-Siemens type.
AC   DI-00453
AR   HS-DEB.
DE   The most severe recessive form of dystrophic epidermolysis bullosa. It
DE   manifests with mutilating scarring, joint contractures, corneal
DE   erosions, esophagus structures, and propensity to formation of
DE   cutaneous squamous cell carcinomas leading to premature demise of the
DE   affected individuals.
SY   EBR1.
DR   MIM; 226600; phenotype.
DR   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa dystrophica, Pasini type.
AC   DI-00454
AR   P-DEB.
DE   A severe, dominantly inherited form of dystrophic epidermolysis
DE   bullosa characterized by albopapuloid Pasini papule, dorsal extremity
DE   blistering, milia formation and red atrophic scarring after recurrent
DE   blisters.
SY   Albopapuloid dominant dystrophic epidermolysis bullosa.
DR   MIM; 131750; phenotype.
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   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   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa letalis, with pyloric atresia.
AC   DI-00458
AR   EB-PA.
DE   An autosomal recessive, frequently lethal, epidermolysis bullosa with
DE   variable involvement of skin, nails, mucosa, and with variable effects
DE   on the digestive system. It is characterized by mucocutaneous
DE   fragility, aplasia cutis congenita, and gastrointestinal atresia,
DE   which most commonly affects the pylorus. Pyloric atresia is a primary
DE   manifestation rather than a scarring process secondary to
DE   epidermolysis bullosa.
SY   Aplasia cutis congenita with gastrointestinal atresia.
SY   Carmi syndrome.
SY   Junctional epidermolysis bullosa with pyloric atresia.
SY   PA-JEB.
DR   MIM; 226730; phenotype.
DR   MeSH; D016109.
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   MeSH; D016108.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex with pyloric atresia.
AC   DI-01532
AR   EBS-PA.
DE   Autosomal recessive genodermatosis characterized by severe skin
DE   blistering at birth and congenital pyloric atresia. Death usually
DE   occurs in infancy. This disorder is allelic to MD-EBS.
DR   MIM; 612138; phenotype.
//
ID   Epidermolysis bullosa simplex, autosomal recessive 1.
AC   DI-00461
AR   EBSB1.
DE   An intraepidermal epidermolysis bullosa characterized by localized
DE   blistering on the dorsal, lateral and plantar surfaces of the feet.
DR   MIM; 601001; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, autosomal recessive 2.
AC   DI-03906
AR   EBSB2.
DE   A form of epidermolysis bullosa, a dermatologic disorder characterized
DE   by localized blistering on the dorsal, lateral and plantar surfaces of
DE   the feet. EBSB2 is characterized by trauma-induced blistering mainly
DE   occurring on the feet and ankles. Ultrastructural analysis of skin
DE   biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.
DR   MIM; 615425; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, Dowling-Meara type.
AC   DI-00462
AR   DM-EBS.
DE   A severe form of intraepidermal epidermolysis bullosa characterized by
DE   generalized herpetiform blistering, milia formation, dystrophic nails,
DE   and mucous membrane involvement.
DR   MIM; 131760; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, Koebner type.
AC   DI-00463
AR   K-EBS.
DE   A form of intraepidermal epidermolysis bullosa characterized by
DE   generalized skin blistering. The phenotype is not fundamentally
DE   distinct from the Dowling-Meara type, although it is less severe.
SY   EBS generalized.
SY   EBS2.
SY   Epidermolysis bullosa simplex 2.
DR   MIM; 131900; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, Ogna type.
AC   DI-00464
AR   O-EBS.
DE   A form of intraepidermal epidermolysis bullosa characterized by
DE   generalized skin bruising, skin fragility with non-scarring blistering
DE   and small hemorrhagic blisters on hands. At the ultrastructural level,
DE   it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS,
DE   by the occurrence of blisters originating in basal cells above
DE   hemidesmosomes, and abnormal hemidesmosome intracellular attachment
DE   plates.
SY   EBS1.
SY   EBSO.
SY   Epidermolysis bullosa simplex 1.
DR   MIM; 131950; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, Weber-Cockayne type.
AC   DI-00465
AR   WC-EBS.
DE   A form of intraepidermal epidermolysis bullosa characterized by
DE   blistering limited to palmar and plantar areas of the skin.
DR   MIM; 131800; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, with migratory circinate erythema.
AC   DI-00466
AR   EBSMCE.
DE   A form of intraepidermal epidermolysis bullosa characterized by
DE   unusual migratory circinate erythema. Skin lesions appear from birth
DE   primarily on the hands, feet, and legs but spare nails, ocular
DE   epithelia and mucosae. Lesions heal with brown pigmentation but no
DE   scarring. Electron microscopy findings are distinct from those seen in
DE   the DM-EBS, with no evidence of tonofilament clumping.
DR   MIM; 609352; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, with mottled pigmentation.
AC   DI-00467
AR   MP-EBS.
DE   A form of intraepidermal epidermolysis bullosa characterized by
DE   blistering at acral sites and 'mottled' pigmentation of the trunk and
DE   proximal extremities with hyper- and hypopigmentation macules.
SY   Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.
DR   MIM; 131960; phenotype.
DR   MeSH; D016110.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa simplex, with muscular dystrophy.
AC   DI-00468
AR   MD-EBS.
DE   A form of epidermolysis bullosa characterized by the association of
DE   blister formation at the level of the hemidesmosome with late-onset
DE   muscular dystrophy.
SY   Epidermolysis bullosa simplex and limb-girdle muscular dystrophy.
DR   MIM; 226670; phenotype.
DR   MeSH; D016110.
DR   MeSH; D049288.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, junctional, Herlitz type.
AC   DI-00457
AR   H-JEB.
DE   An infantile and lethal form of junctional epidermolysis bullosa, a
DE   group of blistering skin diseases characterized by tissue separation
DE   which occurs within the dermo-epidermal basement In the Herlitz type,
DE   death occurs usually within the first six months of life.
DE   Occasionally, children survive to teens. It is marked by bullous
DE   lesions at birth and extensive denudation of skin and mucous membranes
DE   that may be hemorrhagic.
SY   Epidermolysis letalis.
SY   Junctional epidermolysis bullosa gravis.
SY   Junctional epidermolysis bullosa Herlitz-Pearson type.
DR   MIM; 226700; phenotype.
DR   MeSH; D016109.
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.
DR   MIM; 609638; phenotype.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolysis bullosa, non-specific, autosomal recessive.
AC   DI-03676
AR   EBNS.
DE   A skin disease characterized by blistering of skin and mucosae,
DE   following minimal pressure or trauma. Various clinical types with
DE   different severity are recognized, ranging from severe mutilating
DE   forms to mild forms with limited and localized scarring, and less
DE   frequent extracutaneous manifestations. EBNS clinical features mainly
DE   comprise trauma-induced scale crusts and intermittent skin blistering.
DE   Some of the crusted areas are hemorrhagic and accompanied by
DE   occasional bruising. Most lesions clear over several weeks to leave
DE   slightly atrophic scars and moderate post-inflammatory
DE   hyperpigmentation.
DR   MIM; 615028; phenotype.
DR   MeSH; D004820.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Epidermolytic hyperkeratosis.
AC   DI-00207
AR   EHK.
DE   An autosomal dominant skin disorder characterized by widespread
DE   blistering and an ichthyotic erythroderma at birth that persist into
DE   adulthood. Histologically there is a diffuse epidermolytic
DE   degeneration in the lower spinous layer of the epidermis. Within a few
DE   weeks from birth, erythroderma and blister formation diminish and
DE   hyperkeratoses develop.
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   MeSH; D017488.
KW   KW-0977:Ichthyosis.
//
ID   Epilepsy X-linked, with variable learning disabilities and behavior disorders.
AC   DI-00470
AR   XELBD.
DE   A neurologic disorder characterized by variable combinations of
DE   epilepsy, learning difficulties, macrocephaly, and aggressive
DE   behavior.
DR   MIM; 300491; phenotype.
DR   MeSH; D004827.
DR   MeSH; D019954.
KW   KW-0887:Epilepsy.
//
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   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   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   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   MeSH; D004832.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial adult myoclonic, 5.
AC   DI-03870
AR   FAME5.
DE   A form of cortical myoclonic tremor with epilepsy, a syndrome
DE   characterized by cortical myoclonus and variable occurrence of
DE   epileptic seizures. Usually, myoclonic tremor is the presenting
DE   symptom, characterized by tremulous finger movements and myoclonic
DE   jerks of the limbs increased by action and posture. In a minority of
DE   patients, seizures are the presenting symptom; both complex partial as
DE   well as generalized tonic clonic seizures are described. Some patients
DE   exhibit mild cognitive impairment.
SY   Familial cortical myoclonic tremor with epilepsy 5.
SY   FCMTE5.
DR   MIM; 615400; phenotype.
DR   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, familial focal, with variable foci.
AC   DI-03794
AR   FFEVF.
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   FPEVF.
SY   Partial epilepsy with variable foci.
DR   MIM; 604364; phenotype.
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   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   MeSH; D004833.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, focal, with speech disorder and with or without mental retardation.
AC   DI-03169
AR   FESD.
DE   A highly variable neurologic disorder with features ranging from
DE   severe early-onset seizures associated with delayed psychomotor
DE   development, persistent speech difficulties, and mental retardation to
DE   a more benign entity characterized by childhood onset of mild or
DE   asymptomatic seizures associated with transient speech difficulties
DE   followed by remission of seizures in adolescence and normal
DE   psychomotor development. The disorder encompasses several clinical
DE   entities, including Landau-Kleffner syndrome, epileptic encephalopathy
DE   with continuous spike and wave during slow-wave sleep, autosomal
DE   dominant rolandic epilepsy, mental retardation and speech dyspraxia,
DE   and benign epilepsy with centrotemporal spikes.
SY   Acquired aphasia with epilepsy.
SY   ADRESD.
SY   Autosomal dominant rolandic epilepsy with mental retardation and speech dyspraxia.
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   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   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   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   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   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   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   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   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   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   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   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   MeSH; D017034.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 1.
AC   DI-00952
AR   EPM1.
DE   An autosomal recessive disorder 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   MeSH; D020191.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 1B.
AC   DI-00953
AR   EPM1B.
DE   An autosomal recessive disorder characterized by myoclonus that
DE   progressed in severity over time, tonic-clonic seizures and ataxia.
DR   MIM; 612437; phenotype.
DR   MeSH; D020191.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 2.
AC   DI-00954
AR   EPM2.
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 disease.
SY   Lafora's 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   MeSH; D020192.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.
AC   DI-00955
AR   EPM3.
DE   An autosomal recessive, severe, progressive myoclonic epilepsy with
DE   early onset. Multifocal myoclonic seizures begin between 16 and 24
DE   months of age after normal initial development. Neurodegeneration and
DE   regression occur with seizure onset. Other features include mental
DE   retardation, dysarthria, truncal ataxia, and loss of fine finger
DE   movements. EEG shows slow dysrhythmia, multifocal and occasionally
DE   generalized epileptiform discharges. In some patients, ultrastructural
DE   findings on skin biopsies identify intracellular accumulation of
DE   autofluorescent lipopigment storage material, consistent with neuronal
DE   ceroid lipofuscinosis.
SY   CLN14.
SY   Neuronal ceroid lipofuscinosis 14.
SY   Progressive myoclonic epilepsy 3.
DR   MIM; 611726; phenotype.
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   An autosomal recessive progressive myoclonic epilepsy associated with
DE   renal failure in some cases. Cognitive function is preserved.
DE   Myoclonus is a brief, involuntary twitching of a muscle or a group of
DE   muscles.
SY   Action myoclonus-renal failure syndrome.
SY   AMRF.
SY   Myoclonus-nephropathy syndrome.
DR   MIM; 254900; phenotype.
DR   MeSH; D020191.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 5.
AC   DI-03065
AR   EPM5.
DE   A neurodegenerative disorder characterized by myoclonic seizures and
DE   variable neurologic symptoms including cognitive decline and
DE   persistent movement abnormalities.
DR   MIM; 613832; phenotype.
DR   MeSH; D020191.
KW   KW-0887:Epilepsy.
//
ID   Epilepsy, progressive myoclonic 6.
AC   DI-03161
AR   EPM6.
DE   A neurologic disorder characterized by onset of ataxia in the first
DE   years of life, followed by action myoclonus and seizures later in
DE   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   MeSH; D020191.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, childhood-onset.
AC   DI-03857
AR   EEOC.
DE   A severe form of epilepsy characterized by onset of multiple seizure
DE   types in the first few years of life and associated with poor
DE   prognosis. Affected individuals have cognitive regression and
DE   intellectual disability.
DR   MIM; 615369; phenotype.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 1.
AC   DI-00471
AR   EIEE1.
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   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   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
ID   Epileptic encephalopathy, early infantile, 11.
AC   DI-02993
AR   EIEE11.
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.
DR   MIM; 613721; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 12.
AC   DI-02994
AR   EIEE12.
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.
DR   MIM; 613722; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 13.
AC   DI-03398
AR   EIEE13.
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. EIEE13 is a severe
DE   form consisting of early-onset seizures, features of autism,
DE   intellectual disability, ataxia, and sudden unexplained death in
DE   epilepsy.
DR   MIM; 614558; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 14.
AC   DI-03632
AR   EIEE14.
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   Malignant migrating partial seizures of infancy.
SY   MMPSI.
DR   MIM; 614959; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 15.
AC   DI-03664
AR   EIEE15.
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.
DR   MIM; 615006; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 16.
AC   DI-03823
AR   EIEE16.
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.
DR   MIM; 615338; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 17.
AC   DI-03922
AR   EIEE17.
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.
DR   MIM; 615473; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 18.
AC   DI-03918
AR   EIEE18.
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.
DR   MIM; 615476; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 19.
AC   DI-04092
AR   EIEE19.
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.
DR   MIM; 615744; phenotype.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 2.
AC   DI-00472
AR   EIEE2.
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, EIEE2 and Rett syndrome are considered two distinct entities.
SY   Atypical Rett syndrome CDKL5-related.
SY   Atypical Rett syndrome Hanefeld variant.
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   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
ID   Epileptic encephalopathy, early infantile, 21.
AC   DI-04123
AR   EIEE21.
DE   A severe disease characterized by intractable seizures, profound
DE   global developmental delay, and persistent severe axial hypotonia as
DE   well as appendicular hypertonia.
DR   MIM; 615833; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 23.
AC   DI-04135
AR   EIEE23.
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.
DR   MIM; 615859; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 24.
AC   DI-04145
AR   EIEE24.
DE   A disease characterized by early-onset seizures, intellectual
DE   disability of varying degrees, and behavioral disturbances or autistic
DE   features in most individuals.
DR   MIM; 615871; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 25.
AC   DI-04176
AR   EIEE25.
DE   A disease characterized by seizures appearing in the first days of
DE   life, subclinical epileptic status, and recognizable EEG patterns with
DE   bilateral, multifocal status epilepticus. Patients have profound or
DE   severe delayed development with lack of speech, and most patients do
DE   not acquire the ability to sit. Additional variable features include
DE   axial hypotonia, peripheral hypertonia, and abnormal involuntary
DE   movements such as dystonia and choreoathetosis.
DR   MIM; 615905; phenotype.
DR   MeSH; D004827.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 3.
AC   DI-00473
AR   EIEE3.
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. Epileptic
DE   encephalopathy early infantile type 3 is characterized by a very early
DE   onset, erratic and fragmentary myoclonus, massive myoclonus, partial
DE   motor seizures and late tonic spasms. The prognosis is poor, with no
DE   effective treatment, and children with the condition either die within
DE   1 to 2 years after birth or survive in a persistent vegetative state.
SY   Early myoclonic encephalopathy.
SY   EME.
SY   Neonatal epilepsy with suppression-burst pattern.
DR   MIM; 609304; phenotype.
DR   MeSH; D004831.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 4.
AC   DI-00474
AR   EIEE4.
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 mental
DE   retardation, and MRI evidence of brain hypomyelination.
SY   Early myoclonic encephalopathy.
SY   EME.
SY   Neonatal epilepsy with suppression-burst pattern.
DR   MIM; 612164; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
ID   Epileptic encephalopathy, early infantile, 5.
AC   DI-02791
AR   EIEE5.
DE   A disorder characterized by seizures associated with hypsarrhythmia,
DE   profound mental retardation with lack of visual attention and speech
DE   development, as well as spastic quadriplegia.
DR   MIM; 613477; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
ID   Epileptic encephalopathy, early infantile, 6.
AC   DI-01023
AR   EIEE6.
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 EIEE6. EIEE6 is considered to be the most
DE   severe phenotype within the spectrum of generalized epilepsies with
DE   febrile seizures-plus.
SY   Borderline SMEI.
SY   Dravet syndrome.
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   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 7.
AC   DI-02992
AR   EIEE7.
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   Ohtahara syndrome.
DR   MIM; 613720; phenotype.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 8.
AC   DI-01088
AR   EIEE8.
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   mental retardation. Seizures can be provoked by tactile stimulation or
DE   extreme emotion.
SY   Hyperekplexia with epilepsy.
SY   Startle disease with epilepsy.
DR   MIM; 300607; phenotype.
DR   MeSH; D013036.
DR   MeSH; D013216.
KW   KW-0887:Epilepsy.
//
ID   Epileptic encephalopathy, early infantile, 9.
AC   DI-01533
AR   EIEE9.
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   Convulsive disorder and mental retardation.
SY   EFMR.
SY   Epilepsy female-restricted with mental retardation.
DR   MIM; 300088; phenotype.
DR   MeSH; D008607.
DR   MeSH; D013036.
KW   KW-0887:Epilepsy.
KW   KW-0991:Mental retardation.
//
ID   Epimerase-deficiency galactosemia.
AC   DI-01534
AR   EDG.
DE   Clinical features include early-onset cataracts, liver damage,
DE   deafness and mental retardation. There are two clinically distinct
DE   forms of EDG. (1) A benign, or 'peripheral' form with no detectable
DE   GALE activity in red blood cells and characterized by mild symptoms.
DE   Some patients may suffer no symptoms beyond raised levels of
DE   galactose-1-phosphate in the blood. (2) A much rarer 'generalized'
DE   form with undetectable levels of GALE activity in all tissues and
DE   resulting in severe features such as restricted growth and mental
DE   development.
SY   Galactosemia type 3.
DR   MIM; 230350; phenotype.
//
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   MeSH; D006130.
DR   MeSH; D017880.
//
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   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   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   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   MeSH; D001259.
//
ID   Episodic kinesigenic dyskinesia 1.
AC   DI-03309
AR   EKD1.
DE   An autosomal dominant neurologic condition characterized by recurrent
DE   and brief attacks of abnormal involuntary movements, triggered by
DE   sudden voluntary movement. These attacks usually have onset during
DE   childhood or early adulthood and can involve dystonic postures,
DE   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   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   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   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   MeSH; D010146.
//
ID   Epsilon-trimethyllysine hydroxylase deficiency.
AC   DI-03482
AR   TMLHED.
DE   An inborn error of carnitine biosynthesis associated with an increased
DE   risk for developing autistic behavior. Autism is a complex
DE   multifactorial, pervasive developmental disorder characterized by
DE   impairments in reciprocal social interaction and communication,
DE   restricted and stereotyped patterns of interests and activities, and
DE   the presence of developmental abnormalities by 3 years of age. Most
DE   individuals with autism also manifest moderate mental retardation.
SY   AUTSX6.
SY   Susceptibility to autism X-linked 6.
DR   MIM; 300872; phenotype.
DR   MeSH; D001321.
DR   MeSH; D008661.
//
ID   Epstein syndrome.
AC   DI-00478
AR   EPS.
DE   An autosomal dominant disorder characterized by the association of
DE   macrothrombocytopathy, sensorineural hearing loss and nephritis.
SY   Macrothrombocytopathy-nephritis-deafness.
DR   MIM; 153650; phenotype.
DR   MeSH; D001791.
DR   MeSH; D009394.
KW   KW-0209:Deafness.
//
ID   Erythrocytosis, familial, 1.
AC   DI-00479
AR   ECYT1.
DE   An autosomal dominant disorder characterized by increased serum red
DE   blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity
DE   of erythroid progenitors to erythropoietin, erythropoietin low serum
DE   levels, and no increase in platelets nor leukocytes. It has a
DE   relatively benign course and does not progress to leukemia.
SY   Autosomal dominant benign erythrocytosis.
SY   Familial primary polycythemia.
SY   PFCP.
DR   MIM; 133100; phenotype.
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   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 3.
AC   DI-00481
AR   ECYT3.
DE   An autosomal dominant disorder characterized by increased serum red
DE   blood cell mass, elevated serum hemoglobin and hematocrit, and normal
DE   serum erythropoietin levels.
DR   MIM; 609820; phenotype.
DR   MeSH; D011086.
KW   KW-0985:Congenital erythrocytosis.
//
ID   Erythrocytosis, familial, 4.
AC   DI-00482
AR   ECYT4.
DE   An autosomal dominant disorder characterized by increased serum red
DE   blood cell mass, elevated serum hemoglobin and hematocrit, and normal
DE   platelet and leukocyte counts.
DR   MIM; 611783; phenotype.
DR   MeSH; D011086.
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   MeSH; D003873.
DR   MeSH; D007039.
DR   MeSH; D007645.
KW   KW-1007:Palmoplantar keratoderma.
KW   KW-1063:Hypotrichosis.
//
ID   Erythroderma, ichthyosiform, congenital reticular.
AC   DI-02981
AR   CRIE.
DE   A rare skin condition characterized by slowly enlarging islands of
DE   normal skin surrounded by erythematous ichthyotic patches in a
DE   reticulated pattern. The condition starts in infancy as a lamellar
DE   ichthyosis, with small islands of normal skin resembling confetti
DE   appearing in late childhood and at puberty. Histopathologic findings
DE   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   Ichthyosis variegata.
SY   Ichthyosis with confetti.
SY   IWC.
SY   Reticular erythrokeratoderma.
DR   MIM; 609165; phenotype.
DR   MeSH; D016113.
KW   KW-0977:Ichthyosis.
//
ID   Erythrokeratodermia variabilis.
AC   DI-00483
AR   EKV.
DE   A genodermatosis characterized by the appearance of two independent
DE   skin lesions: transient figurate erythematous patches and
DE   hyperkeratosis that is usually localized but occasionally occurs in
DE   its generalized form. Clinical presentation varies significantly
DE   within a family and from one family to another. Palmoplantar
DE   keratoderma is present in around 50% of cases.
SY   Congenital familial erythrokeratodermia figurata in plaques.
SY   EKVP.
SY   Erythrokeratodermia progressive symmetric.
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   MeSH; D056266.
KW   KW-1007:Palmoplantar keratoderma.
//
ID   Erythropoietic protoporphyria.
AC   DI-00484
AR   EPP.
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. 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   Ferrochelatase deficiency.
SY   Heme synthetase deficiency.
DR   MIM; 177000; phenotype.
DR   MeSH; D046351.
//
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   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   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   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   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.
//
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 sarcoma family of tumors.
SY   Ewing's tumor.
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   MeSH; D012512.
//
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   Pseudo-exfoliation syndrome.
SY   Pseudoexfoliation of the lens.
SY   Pseudoexfoliation syndrome.
SY   XFG.
DR   MIM; 177650; phenotype.
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.
//
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.
//
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   MeSH; D019767.
//
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   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   Traboulsi syndrome.
DR   MIM; 601552; phenotype.
DR   MeSH; D004479.
DR   MeSH; D019465.
//
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   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   MeSH; D020391.
//
ID   Facioscapulohumeral muscular dystrophy 2.
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   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   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   FMFD I.
SY   FMFD1.
SY   MCFD1.
SY   Multiple coagulation factor deficiency 1.
SY   Multiple coagulation factor deficiency I.
DR   MIM; 227300; phenotype.
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   MeSH; D025861.
//
ID   Factor V deficiency.
AC   DI-00486
AR   FA5D.
DE   A blood coagulation disorder leading to an 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   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   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   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   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   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   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   MeSH; D005177.
//
ID   Familial adenomatous polyposis.
AC   DI-01547
AR   FAP.
DE   A cancer predisposition syndrome characterized by adenomatous polyps
DE   of the colon and rectum, but also of upper gastrointestinal tract
DE   (ampullary, duodenal and gastric adenomas). This is a viciously
DE   premalignant disease with one or more polyps progressing through
DE   dysplasia to malignancy in untreated gene carriers with a median age
DE   at diagnosis of 40 years.
DR   MIM; 175100; phenotype.
//
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   MeSH; D011125.
//
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   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 urticaria.
SY   Familial cold-induced autoinflammatory syndrome.
SY   FCAS.
SY   FCU.
DR   MIM; 120100; phenotype.
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   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   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.
//
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   MeSH; D006980.
//
ID   Familial hemophagocytic lymphohistiocytosis 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   MeSH; D051359.
//
ID   Familial hemophagocytic lymphohistiocytosis 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   MeSH; D051359.
//
ID   Familial hemophagocytic lymphohistiocytosis 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   MeSH; D051359.
//
ID   Familial hemophagocytic lymphohistiocytosis 5.
AC   DI-02796
AR   FHL5.
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   HLH5.
SY   HPLH5.
DR   MIM; 613101; phenotype.
DR   MeSH; D051359.
//
ID   Familial hibernian fever.
AC   DI-00491
AR   FHF.
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 periodic fever autosomal dominant.
SY   TNF receptor-associated periodic syndrome.
SY   TRAPS.
SY   Tumor necrosis factor receptor-associated periodic syndrome.
DR   MIM; 142680; phenotype.
DR   MeSH; D056660.
KW   KW-1008:Amyloidosis.
//
ID   Familial horizontal gaze palsy with progressive scoliosis.
AC   DI-01576
AR   HGPPS.
DE   Patients show a medulla where motor and sensory projections appear
DE   uncrossed.
DR   MIM; 607313; phenotype.
//
ID   Familial hyperaldosteronism 1.
AC   DI-02693
AR   FH1.
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 type I.
SY   FH I.
SY   FH type 1.
SY   Glucocorticoid sensitive hypertension.
SY   Glucocorticoid-remediable aldosteronism.
SY   Glucocorticoid-suppressible hyperaldosteronism.
SY   GRA.
SY   GSH.
DR   MIM; 103900; phenotype.
DR   MeSH; D006929.
//
ID   Familial hyperaldosteronism 3.
AC   DI-03198
AR   FH3.
DE   A form of hyperaldosteronism characterized by hypertension secondary
DE   to massive adrenal mineralocorticoid production. Like patients with
DE   familial hyperaldosteronism type 1 (glucocorticoid-remediable
DE   aldosteronism), patients with FH3 present with childhood hypertension,
DE   elevated aldosteronism levels, and high levels of the hybrid steroids
DE   18-oxocortisol and 18-hydroxycortisol. However, hypertension and
DE   aldosteronism are not reversed by administration of exogenous
DE   glucocorticoids and patients require adrenalectomy to control
DE   hypertension.
SY   Familial hyperaldosteronism type III.
SY   FH III.
SY   FH type III.
DR   MIM; 613677; phenotype.
DR   MeSH; D006929.
//
ID   Familial hypercholanemia.
AC   DI-00492
AR   FHCA.
DE   A disorder characterized by elevated serum bile acid concentrations,
DE   itching, and fat malabsorption.
DR   MIM; 607748; phenotype.
DR   MeSH; D008286.
//
ID   Familial hypercholesterolemia.
AC   DI-01577
AR   FH.
DE   Common autosomal semi-dominant disease that affects about 1 in 500
DE   individuals. The receptor defect impairs the catabolism of LDL, and
DE   the resultant elevation in plasma LDL-cholesterol promotes deposition
DE   of cholesterol in the skin (xanthelasma), tendons (xanthomas), and
DE   coronary arteries (atherosclerosis).
DR   MIM; 143890; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 1.
AC   DI-01579
AR   HHF1.
DE   Most common cause of persistent hypoglycemia in infancy. Unless early
DE   and aggressive intervention is undertaken, brain damage from recurrent
DE   episodes of hypoglycemia may occur.
SY   Congenital hyperinsulinism.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 256450; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 2.
AC   DI-01580
AR   HHF2.
DE   Most common cause of persistent hypoglycemia in infancy. Unless early
DE   and aggressive intervention is undertaken, brain damage from recurrent
DE   episodes of hypoglycemia may occur.
SY   Congenital hyperinsulinism.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 601820; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 3.
AC   DI-01581
AR   HHF3.
DE   Most common cause of persistent hypoglycemia in infancy. Unless early
DE   and aggressive intervention is undertaken, brain damage from recurrent
DE   episodes of hypoglycemia may occur.
SY   Congenital hyperinsulinism.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 602485; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 4.
AC   DI-01582
AR   HHF4.
DE   Most common cause of persistent hypoglycemia in infancy. Unless early
DE   and aggressive intervention is undertaken, brain damage from recurrent
DE   episodes of hypoglycemia may occur. HHF4 should be easily recognizable
DE   by analysis of acylcarnitine species and that this disorder responds
DE   well to treatment with diazoxide. It provides the first 'experiment of
DE   nature' that links impaired fatty acid oxidation to hyperinsulinism
DE   and that provides support for the concept that a lipid signaling
DE   pathway is implicated in the control of insulin secretion.
SY   Congenital hyperinsulinism.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 609975; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 5.
AC   DI-01583
AR   HHF5.
DE   Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to
DE   as congenital hyperinsulinism, nesidioblastosis, or persistent
DE   hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common
DE   cause of persistent hypoglycemia in infancy and is due to defective
DE   negative feedback regulation of insulin secretion by low glucose
DE   levels.
SY   Congenital hyperinsulinism.
SY   Persistent hyperinsulinemic hypoglycemia of infancy.
SY   PHHI.
DR   MIM; 609968; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 6.
AC   DI-01769
AR   HHF6.
DE   Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to
DE   as congenital hyperinsulinism, nesidioblastosis, or persistent
DE   hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common
DE   cause of persistent hypoglycemia in infancy and is due to defective
DE   negative feedback regulation of insulin secretion by low glucose
DE   levels. In HHF6 elevated oxidation rate of glutamate to alpha-
DE   ketoglutarate stimulates insulin secretion in the pancreatic beta
DE   cells, while they impair detoxification of ammonium in the liver.
SY   HHS.
SY   Hyperinsulinism-hyperammonemia syndrome.
DR   MIM; 606762; phenotype.
//
ID   Familial hyperinsulinemic hypoglycemia 7.
AC   DI-01584
AR   HHF7.
DE   Dominantly inherited hypoglycemic disorder characterized by
DE   inappropriate insulin secretion during anaerobic exercise or on
DE   pyruvate load.
SY   Exercise-induced hyperinsulinemic hypoglycemia.
DR   MIM; 610021; phenotype.
//
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   MeSH; D004831.
KW   KW-0887:Epilepsy.
//
ID   Familial isolated hyperparathyroidism.
AC   DI-01589
AR   FIHP.
DE   Autosomal dominant disorder characterized by hypercalcemia, elevated
DE   parathyroid hormone (PTH) levels, and uniglandular or multiglandular
DE   parathyroid tumors.
SY   HRPT1.
SY   Hyperparathyroidism type 1.
DR   MIM; 145000; phenotype.
//
ID   Familial juvenile hyperuricemic nephropathy 1.
AC   DI-00493
AR   HNFJ1.
DE   A renal disease characterized by juvenile onset of hyperuricemia,
DE   polyuria, progressive renal failure, and gout. The disease is
DE   associated with interstitial pathological changes resulting in
DE   fibrosis.
SY   FJHN.
SY   FJHN1.
SY   Gouty nephropathy familial juvenile.
SY   Nephropathy familial with gout.
DR   MIM; 162000; phenotype.
DR   MeSH; D006073.
//
ID   Familial juvenile hyperuricemic nephropathy 2.
AC   DI-02783
AR   HNFJ2.
DE   A renal disease characterized by juvenile onset of hyperuricemia,
DE   slowly progressive renal failure and anemia.
SY   Early-onset hyperuricemia anemia and progressive kidney failure.
DR   MIM; 613092; phenotype.
DR   MeSH; D006073.
//
ID   Familial ligand-defective apolipoprotein B-100.
AC   DI-01591
AR   FDB.
DE   Dominantly inherited disorder of lipoprotein metabolism leading to
DE   hypercholesterolemia and increased proneness to coronary artery
DE   disease (CAD). The plasma cholesterol levels are dramatically elevated
DE   due to impaired clearance of LDL particles by defective APOB/E
DE   receptors.
DR   MIM; 144010; phenotype.
//
ID   Familial male precocious puberty.
AC   DI-01592
AR   FMPP.
DE   In FMPP the receptor is constitutively activated.
SY   Testotoxicosis.
DR   MIM; 176410; phenotype.
//
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   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   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.
//
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.
//
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   Susceptibility to ventricular fibrillation during myocardial infarction.
DR   MIM; 603829; phenotype.
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   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.
//
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   MeSH; D017119.
//
ID   Familial progressive hyperpigmentation.
AC   DI-02576
AR   FPH.
DE   A disorder characterized by hyperpigmented patches in the skin,
DE   present in early infancy and increasing in size and number with age.
SY   Melanosis universalis hereditaria.
SY   MUH.
DR   MIM; 145250; phenotype.
//
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 with maxillary retrusion and mental retardation.
DR   MIM; 609579; phenotype.
DR   MeSH; D003398.
KW   KW-0989:Craniosynostosis.
KW   KW-0991:Mental retardation.
//
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.
//
ID   Fanconi anemia.
AC   DI-01599
AR   FA.
DE   A genetically heterogeneous 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.
SY   Estren-Dameshek variant of Fanconi anemia.
SY   Estren-Dameshek variant of Fanconi pancytopenia.
SY   Fanconi anemia Estren-Dameshek variant.
DR   MIM; 227650; phenotype.
DR   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
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   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   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   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   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   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   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   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   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   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   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi anemia complementation group M.
AC   DI-03154
AR   FANCM.
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; 614087; phenotype.
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   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   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   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   MeSH; D005199.
KW   KW-0923:Fanconi anemia.
//
ID   Fanconi renotubular syndrome 2.
AC   DI-02851
AR   FRTS2.
DE   A disease due to a generalized dysfunction of the proximal kidney
DE   tubule resulting in decreased solute and water reabsorption. Patients
DE   have polydipsia and polyuria with phosphaturia, glycosuria and
DE   aminoaciduria. They may develop hypophosphatemic rickets or
DE   osteomalacia, acidosis and a tendency toward dehydration. Some
DE   eventually develop renal insufficiency.
DR   MIM; 613388; phenotype.
DR   MeSH; D005198.
//
ID   Fanconi renotubular syndrome 3.
AC   DI-03997
AR   FRTS3.
DE   A disease due to a generalized dysfunction of the proximal kidney
DE   tubule resulting in decreased solute and water reabsorption. Patients
DE   have polydipsia and polyuria with phosphaturia, glycosuria and
DE   aminoaciduria. They may develop hypophosphatemic rickets or
DE   osteomalacia, acidosis and a tendency toward dehydration. Some
DE   eventually develop renal insufficiency.
DR   MIM; 615605; phenotype.
DR   MeSH; D005198.
//
ID   Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.
AC   DI-04230
AR   FRTS4.
DE   A disease characterized by Fanconi syndrome associated with a beta
DE   cell phenotype of neonatal hyperinsulinism with macrosomia and young
DE   onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting
DE   in generalised aminoaciduria, low molecular weight proteinuria,
DE   glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients
DE   have nephrocalcinosis, renal impairment, hypercalciuria with relative
DE   hypocalcemia, and hypermagnesemia.
SY   FRTS4 with MODY.
DR   MIM; 616026; phenotype.
DR   MeSH; D003924.
DR   MeSH; D005198.
KW   KW-0219:Diabetes mellitus.
//
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   Glycogen storage disease XI.
SY   Glycogenosis Fanconi type.
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   MeSH; D006008.
//
ID   Farber lipogranulomatosis.
AC   DI-01606
AR   FL.
DE   Sphingolipid disease characterized by subcutaneous lipid-loaded
DE   nodules, excruciating pain in the joints and extremities, marked
DE   accumulation of ceramide in lysosomes, and death by three years of
DE   age.
SY   Farber disease.
SY   FD.
DR   MIM; 228000; phenotype.
//
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.
//
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   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   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   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   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   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; 611277; phenotype.
DR   MeSH; D003294.
//
ID   Fechtner syndrome.
AC   DI-01611
AR   FTNS.
DE   Autosomal dominant macrothrombocytopenia characterized by
DE   thrombocytopenia, giant platelets and leukocyte inclusions that are
DE   small and poorly organized. Additionally, FTNS is distinguished by
DE   Alport-like clinical features of sensorineural deafness, cataracts and
DE   nephritis.
DR   MIM; 153640; phenotype.
//
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, mental
DE   retardation, 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 and digital abnormalities with normal intelligence.
SY   Microcephaly mental retardation and tracheoesophageal fistula syndrome.
SY   Microcephaly-oculo-digito-esophageal-duodenal syndrome.
SY   MMT syndrome.
SY   MODED.
SY   Oculodigitoesophagoduodenal syndrome.
SY   ODED.
DR   MIM; 164280; phenotype.
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   MeSH; D008831.
DR   MeSH; D017880.
//
ID   Fertile eunuch syndrome.
AC   DI-01614
AR   FEUNS.
DE   Mild phenotypic form of HH going with the presence of normal
DE   testicular size and some degree of spermatogenesis.
DR   MIM; 228300; phenotype.
//
ID   Fetal akinesia deformation sequence.
AC   DI-01615
AR   FADS.
DE   Rare condition characterized by decreased intrauterine fetal movement,
DE   congenital limb contractures, pulmonary hypoplasia, polyhydramnios and
DE   craniofacial abnormalities.
SY   Fetal akinesia sequence or arthrogryposis multiplex congenita with pulmonary hypoplasia.
SY   Pena-Shokeir syndrome type 1.
DR   MIM; 208150; phenotype.
//
ID   FG syndrome 2.
AC   DI-01616
AR   FGS2.
DE   FG syndrome (FGS) is an X-linked disorder characterized by mental
DE   retardation, relative macrocephaly, hypotonia and constipation.
DR   MIM; 300321; phenotype.
//
ID   FG syndrome 4.
AC   DI-01617
AR   FGS4.
DE   FG syndrome (FGS) is an X-linked disorder characterized by mental
DE   retardation, relative macrocephaly, hypotonia and constipation.
DR   MIM; 300422; phenotype.
//
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   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   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   MeSH; D009221.
//
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   FCN3 deficiency.
SY   Immunodeficiency due to ficolin 3 deficiency.
DR   MIM; 613860; phenotype.
DR   MeSH; D007153.
//
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   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   MeSH; D012164.
//
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   MeSH; D000015.
//
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.
//
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 syndrome.
SY   Goltz-Gorlin syndrome.
DR   MIM; 305600; phenotype.
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   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   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   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   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   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   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   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   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   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   MeSH; D005923.
//
ID   Folate-sensitive neural tube defects.
AC   DI-01623
AR   FS-NTD.
DE   The most common NTDs are open spina bifida (myelomeningocele) and
DE   anencephaly.
DR   MIM; 601634; phenotype.
//
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   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 and anterior segment dysgenesis.
SY   Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.
SY   Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism.
DR   MIM; 609218; phenotype.
DR   MeSH; D015785.
//
ID   Fragile X syndrome.
AC   DI-01625
AR   FRAX.
DE   Common genetic disease (has a prevalence of one in every 2000
DE   children) which is characterized by moderate to severe mental
DE   retardation, macroorchidism (enlargement of the testicles), large
DE   ears, prominent jaw, and high-pitched, jocular speech. The defect in
DE   most fragile X syndrome patients results from an amplification of a
DE   CGG repeat region which is directly in front of the coding region.
DR   MIM; 300624; phenotype.
//
ID   Fragile X tremor/ataxia syndrome.
AC   DI-01626
AR   FXTAS.
DE   In FXTAS, the expanded repeats range in size from 55 to 200 repeats
DE   and are referred to as 'premutations'. Full repeat expansions with
DE   greater than 200 repeats results in fragile X mental retardation
DE   syndrome [MIM:300624]. Carriers of the premutation typically do not
DE   show the full fragile X syndrome phenotype, but comprise a subgroup
DE   that may have some physical features of fragile X syndrome or mild
DE   cognitive and emotional problems.
DR   MIM; 300623; phenotype.
//
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   Ter Haar syndrome.
DR   MIM; 249420; phenotype.
DR   MeSH; D010009.
DR   MeSH; D019465.
//
ID   Fraser syndrome.
AC   DI-01627
AR   FRASS.
DE   Multisystem malformation usually comprising cryptophthalmos, cutaneous
DE   syndactyly, ear abnormalities, renal agenesis and congenital heart
DE   defects.
DR   MIM; 219000; phenotype.
//
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.
//
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.
DR   MIM; 229300; phenotype.
//
ID   Frontometaphyseal dysplasia.
AC   DI-01631
AR   FMD.
DE   Congenital bone disease characterized by supraorbital hyperostosis,
DE   deafness and digital anomalies.
DR   MIM; 305620; phenotype.
//
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   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   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   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 and parkinsonism linked to chromosome 17.
SY   Frontotemporal dementia with parkinsonism.
SY   Frontotemporal dementia-amyotrophic lateral sclerosis.
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   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   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   MeSH; D000690.
DR   MeSH; D057174.
KW   KW-0036:Amyotrophic lateral sclerosis.
//
ID   Frontotemporal dementia, chromosome 3-linked.
AC   DI-01633
AR   FTD3.
DE   Characterized by an onset of dementia in the late 50's initially
DE   characterized by behavioral and personality changes including apathy,
DE   restlessness, disinhibition and hyperorality, progressing to
DE   stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a
DE   marked lack of insight. The brains of individuals with FTD3 have no
DE   distinctive neuropathological features. They show global cortical and
DE   central atrophy, but no beta-amyloid deposits.
DR   MIM; 600795; phenotype.
//
ID   Fructose-1,6-bisphosphatase deficiency.
AC   DI-01634
AR   FBPD.
DE   Inherited as an autosomal recessive disorder mainly in the liver and
DE   causes life-threatening episodes of hypoglycemia and metabolic
DE   acidosis (lactacidemia) in newborn infants or young children.
DR   MIM; 229700; phenotype.
//
ID   Fructosuria.
AC   DI-01635
AR   FRUCT.
DE   Benign defect of intermediary metabolism.
DR   MIM; 229800; phenotype.
//
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   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.
//
ID   Fumarase deficiency.
AC   DI-01638
AR   FHD.
DE   Characterized by progressive encephalopathy, developmental delay,
DE   hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
SY   Fumaricaciduria.
DR   MIM; 606812; phenotype.
//
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.
//
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   MeSH; D000592.
//
ID   Galactosemia.
AC   DI-01642
AR   GALCT.
DE   Inherited disorder of galactose metabolism that causes jaundice,
DE   cataracts, and mental retardation.
SY   Galactose-1-phosphate uridylyltransferase deficiency.
SY   GALT deficiency.
DR   MIM; 230400; phenotype.
//
ID   Galactosemia II.
AC   DI-01643
AR   GALCT2.
DE   Autosomal recessive deficiency characterized by congenital cataracts
DE   during infancy and presenile cataracts in the adult population. The
DE   cataracts are secondary to accumulation of galactitol in the lenses.
DR   MIM; 230200; phenotype.
//
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, mental retardation,
DE   neurologic deterioration, absence of visceromegaly, and 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   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   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   MeSH; D005705.
//
ID   GAPO syndrome.
AC   DI-03790
AR   GAPO.
DE   A disease characterized by growth retardation, alopecia, failure of
DE   tooth eruption, and progressive optic atrophy in some patients.
SY   Growth retardation, alopecia, pseudoanodontia, and optic atrophy.
DR   MIM; 230740; phenotype.
DR   MeSH; D000505.
DR   MeSH; D000848.
DR   MeSH; D006130.
KW   KW-1063:Hypotrichosis.
//
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   MeSH; D013274.
//
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   MeSH; D046152.
//
ID   Gaucher disease.
AC   DI-03092
AR   GD.
DE   A lysosomal storage disease due to deficient activity of beta-
DE   glucocerebrosidase and characterized by accumulation of
DE   glucosylceramide in the reticulo-endothelial system. Different
DE   clinical forms are recognized depending on the presence (neuronopathic
DE   forms) or absence of central nervous system involvement, severity and
DE   age of onset.
SY   Acid beta-glucosidase deficiency.
SY   GBA deficiency.
SY   Glucocerebrosidase deficiency.
DR   MIM; 230800; phenotype.
DR   MeSH; D005776.
//
ID   Gaucher disease 1.
AC   DI-01647
AR   GD1.
DE   A form of Gaucher disease characterized by hepatosplenomegaly with
DE   consequent anemia and thrombopenia, and bone involvement. The central
DE   nervous system is not 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   MeSH; D005776.
//
ID   Gaucher disease 2.
AC   DI-01648
AR   GD2.
DE   The most severe form of Gaucher disease. It manifests soon after
DE   birth, with death generally occurring before patients reach two years
DE   of age.
SY   Acute neuronopathic Gaucher disease.
SY   Gaucher disease type II.
SY   GD II.
DR   MIM; 230900; phenotype.
DR   MeSH; D005776.
//
ID   Gaucher disease 3.
AC   DI-01649
AR   GD3.
DE   A subacute form of neuronopathic Gaucher disease. It has later onset
DE   and slower progression compared to the acute form of neuronopathic
DE   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   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   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.
//
ID   Gaucher disease, atypical, due to saposin C deficiency.
AC   DI-01196
AR   AGD.
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   MeSH; D005776.
//
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   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   MeSH; D004392.
KW   KW-0242:Dwarfism.
//
ID   Generalized atrophic benign epidermolysis bullosa.
AC   DI-00502
AR   GABEB.
DE   A non-lethal, adult form of junctional epidermolysis bullosa
DE   characterized by life-long blistering of the skin, associated with
DE   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   Generalized junctional epidermolysis bullosa mitis.
SY   Non-Herlitz junctional epidermolysis bullosa.
DR   MIM; 226650; phenotype.
DR   MeSH; D016109.
KW   KW-0263:Epidermolysis bullosa.
//
ID   Generalized epilepsy and paroxysmal dyskinesia.
AC   DI-00503
AR   GEPD.
DE   Epilepsy is one of the most common and debilitating neurological
DE   disorders. Paroxysmal dyskinesias are neurological disorders
DE   characterized by sudden, unpredictable, disabling attacks of
DE   involuntary movement often requiring life-long treatment. The
DE   coexistence of epilepsy and paroxysmal dyskinesia in the same
DE   individual or family is an increasingly recognized phenomenon.
DE   Patients manifest absence seizures, generalized tonic-clonic seizures,
DE   paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or
DE   choreiform movements. Onset is usually in childhood and patients may
DE   have seizures only, dyskinesia only, or both.
SY   Generalized epilepsy with paroxysmal dyskinesia.
DR   MIM; 609446; phenotype.
DR   MeSH; D002819.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 1.
AC   DI-00505
AR   GEFS+1.
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.
SY   GEFSP1.
DR   MIM; 604233; phenotype.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 2.
AC   DI-00506
AR   GEFS+2.
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 2.
SY   GEFSP2.
DR   MIM; 604403; phenotype.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 3.
AC   DI-00507
AR   GEFS+3.
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 3.
SY   GEFSP3.
DR   MIM; 611277; phenotype.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 5.
AC   DI-00508
AR   GEFS+5.
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 5.
SY   GEFSP5.
DR   MIM; 613060; phenotype.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized epilepsy with febrile seizures plus 7.
AC   DI-02931
AR   GEFS+7.
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 7.
SY   GEFSP7.
DR   MIM; 613863; phenotype.
DR   MeSH; D003294.
DR   MeSH; D004829.
KW   KW-0887:Epilepsy.
//
ID   Generalized thyroid hormone resistance.
AC   DI-01654
AR   GTHR.
DE   A disease characterized by goiter, abnormal mental functions,
DE   increased susceptibility to infections, abnormal growth and bone
DE   maturation, tachycardia and deafness. Affected individuals may also
DE   have attention deficit-hyperactivity disorders (ADHD) and language
DE   difficulties. GTHR patients also have high levels of circulating
DE   thyroid hormones (T3-T4), with normal or slightly elevated thyroid
DE   stimulating hormone (TSH).
SY   Generalized thyroid hormone resistance autosomal dominant.
DR   MIM; 188570; phenotype.
//
ID   Generalized thyroid hormone resistance autosomal recessive.
AC   DI-03097
AR   GTHRAR.
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.
DR   MIM; 274300; phenotype.
//
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.
SY   Absent patellae scrotal hypoplasia renal anomalies facial dysmorphism and mental retardation.
DR   MIM; 606170; phenotype.
DR   MeSH; D000015.
//
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   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   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.
//
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   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   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.
//
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.
//
ID   Gingival fibromatosis 1.
AC   DI-01662
AR   GGF1.
DE   Gingival fibromatosis is a rare overgrowth condition characterized by
DE   a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of
DE   maxillary and mandibular keratinized gingiva. GGF1 is usually
DE   transmitted as an autosomal dominant trait, although sporadic cases
DE   are common.
SY   GINGF1.
DR   MIM; 135300; phenotype.
//
ID   Gitelman syndrome.
AC   DI-00510
AR   GS.
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   MeSH; D053579.
//
ID   Glanzmann thrombasthenia.
AC   DI-01664
AR   GT.
DE   A common inherited disease of platelet aggregation. It is
DE   characterized by mucocutaneous bleeding of mild-to-moderate severity.
DE   GT has been classified clinically into types I and II. In type I,
DE   platelets show absence of the glycoprotein IIb-IIIa complexes at their
DE   surface and lack fibrinogen and clot retraction capability. In type
DE   II, the platelets express the GPIIb-IIIa complex at reduced levels,
DE   have detectable amounts of fibrinogen, and have low or moderate clot
DE   retraction capability.
SY   BDPLT2.
SY   Bleeding disorder platelet-type 2.
SY   Deficiency of platelet fibrinogen receptor.
SY   Platelet glycoprotein IIb-IIIa deficiency.
SY   Thrombasthenia of Glanzmann and Naegeli.
DR   MIM; 273800; phenotype.
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   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   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   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   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   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   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   GLC3.
SY   Primary congenital glaucoma 3A.
SY   Primary infantile glaucoma type 3A.
DR   MIM; 231300; phenotype.
DR   MeSH; D006871.
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   MeSH; D006871.
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   MeSH; D005901.
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   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   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   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   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   MeSH; D005910.
//
ID   Global cerebral hypomyelination.
AC   DI-02562
AR   GCHM.
DE   A disorder with onset in infancy and characterized by severe
DE   psychomotor retardation, hypotonia, seizures, hypomyelination of the
DE   central nervous system, with the gray matter appearing relatively
DE   unaffected.
SY   AGC1 deficiency.
SY   Aspartate-glutamate carrier 1 deficiency.
DR   MIM; 612949; phenotype.
DR   MeSH; D020279.
//
ID   Glomerulocystic kidney disease with hyperuricemia and isosthenuria.
AC   DI-00511
AR   GCKDHI.
DE   A renal disorder characterized by a cystic dilation of Bowman space, a
DE   collapse of glomerular tuft, and hyperuricemia due to low fractional
DE   excretion of uric acid and severe impairment of urine concentrating
DE   ability.
DR   MIM; 609886; phenotype.
DR   MeSH; D052177.
//
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.
//
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.
//
ID   Glucocorticoid deficiency 1.
AC   DI-01669
AR   GCCD1.
DE   A rare, potentially lethal, autosomal recessive disorder characterized
DE   by resistance to ACTH action on the adrenal cortex, adrenal
DE   insufficiency and an inability of the adrenal cortex to produce
DE   cortisol. It usually presents in the neonatal period or in early
DE   childhood with episodes of hypoglycemia and other symptoms related to
DE   cortisol deficiency, including failure to thrive, recurrent illnesses
DE   or infections, convulsions, and shock. In a small number of patients
DE   hypoglycemia can be sufficiently severe and persistent that it leads
DE   to serious long-term neurological damage or death. The diagnosis is
DE   readily confirmed with a low plasma cortisol measurement in the
DE   presence of an elevated ACTH level, and normal aldosterone and plasma
DE   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   MeSH; D000309.
//
ID   Glucocorticoid deficiency 2.
AC   DI-01670
AR   GCCD2.
DE   A rare, potentially lethal, autosomal recessive disorder characterized
DE   by resistance to ACTH action on the adrenal cortex, adrenal
DE   insufficiency and an inability of the adrenal cortex to produce
DE   cortisol. It usually presents in the neonatal period or in early
DE   childhood with episodes of hypoglycemia and other symptoms related to
DE   cortisol deficiency, including failure to thrive, recurrent illnesses
DE   or infections, convulsions, and shock. In a small number of patients
DE   hypoglycemia can be sufficiently severe and persistent that it leads
DE   to serious long-term neurological damage or death. The diagnosis is
DE   readily confirmed with a low plasma cortisol measurement in the
DE   presence of an elevated ACTH level, and normal aldosterone and plasma
DE   renin measurements.
SY   Familial glucocorticoid deficiency 2.
SY   FGD2.
DR   MIM; 607398; phenotype.
DR   MeSH; D000309.
//
ID   Glucocorticoid deficiency 4.
AC   DI-03501
AR   GCCD4.
DE   A rare, potentially lethal, autosomal recessive disorder characterized
DE   by resistance to ACTH action on the adrenal cortex, adrenal
DE   insufficiency and an inability of the adrenal cortex to produce
DE   cortisol. It usually presents in the neonatal period or in early
DE   childhood with episodes of hypoglycemia and other symptoms related to
DE   cortisol deficiency, including failure to thrive, recurrent illnesses
DE   or infections, convulsions, and shock. In a small number of patients
DE   hypoglycemia can be sufficiently severe and persistent that it leads
DE   to serious long-term neurological damage or death. The diagnosis is
DE   readily confirmed with a low plasma cortisol measurement in the
DE   presence of an elevated ACTH level, and normal aldosterone and plasma
DE   renin measurements.
SY   Familial glucocorticoid deficiency 4.
SY   FGD4.
DR   MIM; 614736; phenotype.
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.
//
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   Cortisol resistance from glucocorticoid receptor defect.
SY   GCCR deficiency.
SY   GCR deficiency.
SY   Glucocorticoid receptor deficiency.
SY   GRL deficiency.
DR   MIM; 615962; phenotype.
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   mental retardation.
SY   Blood-brain barrier glucose transport defect.
SY   Encephalopathy due to GLUT1 deficiency.
SY   GLUT-1 deficiency syndrome.
SY   GLUT1 deficiency.
SY   GLUT1 deficiency syndrome autosomal recessive.
DR   MIM; 606777; phenotype.
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 mental retardation may also
DE   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   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 mental
DE   retardation. 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.
DR   MIM; 229100; phenotype.
//
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   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   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   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   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   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.
//
ID   Glutathione synthetase deficiency of erythrocytes.
AC   DI-01674
AR   GLUSYNDE.
DE   Mild form causing hemolytic anemia.
DR   MIM; 231900; phenotype.
//
ID   Glutathionuria.
AC   DI-01675
AR   GLUTH.
DE   Autosomal recessive disease.
SY   Gamma-glutamyltranspeptidase deficiency.
DR   MIM; 231950; phenotype.
//
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   GK deficiency.
SY   GK1 deficiency.
SY   Hyperglycerolemia.
DR   MIM; 307030; phenotype.
DR   MeSH; D002239.
//
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.
//
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   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   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   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   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   Glycogen storage disease XIII.
SY   Glycogenosis type XIII.
SY   GSD XIII.
SY   Muscle-specific enolase-beta deficiency.
DR   MIM; 612932; phenotype.
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   Glycogen storage disease XV.
SY   Glycogenin deficiency.
SY   GSD XV.
SY   GYG1 deficiency.
DR   MIM; 613507; phenotype.
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   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   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   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   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 m