Term Name: | Bardet-Biedl syndrome 7 |
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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 ) |