OBO ID: DOID:0081009 |
Term Name: | Bardet-Biedl syndrome 20 | Search Ontology: | |
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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. https://pubmed.ncbi.nlm.nih.gov/24290075/ | ||
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Ontology: | Human Disease ( DOID:0081009 ) |
OTHER Bardet-Biedl syndrome 20 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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