Metadata | |
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ID | DOID:0110129 |
Name | Bardet-Biedl syndrome 7 |
Definition | A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. https://pubmed.ncbi.nlm.nih.gov/19797195/, https://www.ncbi.nlm.nih.gov/pubmed/12567324 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BBS7 [EXACT] |
Parent Relationships |