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Metadata
ID DOID:0110124
Name Bardet-Biedl syndrome 2
Definition A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
https://www.ncbi.nlm.nih.gov/pubmed/16823392
Xrefs

GARD:821

ICD10CM:Q87.89

OMIM:615981

Synonyms

BBS2 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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