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/ |
Xrefs | |
Parent Relationships |