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Metadata
ID DOID:0110127
Name Bardet-Biedl syndrome 5
Definition A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.
https://www.ncbi.nlm.nih.gov/pubmed/15137946
Xrefs

GARD:10204

ICD10CM:Q87.89

OMIM:615983

Synonyms

BBS5 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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