OBO ID: DOID:0081011 |
Term Name: | Bardet-Biedl syndrome 22 | Search Ontology: | |
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Definition: | A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. https://pubmed.ncbi.nlm.nih.gov/27486776/ | ||
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Ontology: | Human Disease ( DOID:0081011 ) |
OTHER Bardet-Biedl syndrome 22 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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