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Metadata
ID DOID:0081011
Name Bardet-Biedl syndrome 22
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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MIM:617119

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is_a Bardet-Biedl syndrome

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