Keyword
Bardet-Biedl syndrome
| 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. |
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| Synonyms |
BBS
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| Category |
› Disease
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| Graphical | 
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