Term Name: Bardet-Biedl syndrome 7
Synonyms: BBS7
Definition: A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27.
Ontology: Human Disease [DOID:0110129]   ( DOID:0110129 )

Relationships
is a type of: Bardet-Biedl syndrome