| description | 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 intellectual disability Secondary features include diabetes mellitus, hypertension and congenital heart disease |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
