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Metadata
DOID DOID:0110138
Name Bardet-Biedl syndrome 16
Definition A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.
https://www.ncbi.nlm.nih.gov/pubmed/20835237, https://www.ncbi.nlm.nih.gov/pubmed/22626039
Synonyms

BBS16 [EXACT]

Xrefs

ICD10CM:Q87.89

OMIM:615993

Relationships

is_a Bardet-Biedl syndrome

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