Term Name: | Bardet-Biedl syndrome 20 |
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Synonyms: | |
Definition: | A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. |
Ontology: | Human Disease [DOID:0081009] ( DOID:0081009 ) |