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Metadata
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

GARD:10206

ICD10CM:Q87.89

MESH:C565916

MIM:615984

Subsets

DO_rare_slim

Synonyms

BBS7 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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