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Metadata
ID DOID:0110123
Name Bardet-Biedl syndrome 1
Definition A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/20177705
Xrefs

GARD:820

ICD10CM:Q87.89

OMIM:209900

Synonyms

BBS1 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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