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Metadata
ID DOID:0110126
Name Bardet-Biedl syndrome 4
Definition A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
https://www.ncbi.nlm.nih.gov/pubmed/11381270
Xrefs

GARD:823

ICD10CM:Q87.89

MESH:C537912

MIM:615982

Subsets

DO_rare_slim

Synonyms

BBS4 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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