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Keyword - Bardet-Biedl syndrome (KW-0083)

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Broader

Definition

Protein which, if defective, causes Bardet-Biedl syndrome (BBS), a genetically heterogeneous, autosomal recessive disorder. It is characterized by pigmentary retinopathy, obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease.

Synonyms

  • BBS

Category

Disease

Graphical

CiliopathyBardet-Biedl syndromeDisease
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