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Metadata
DOID DOID:0110130
Name Bardet-Biedl syndrome 8
Definition A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31.
https://www.ncbi.nlm.nih.gov/pubmed/14520415, https://www.ncbi.nlm.nih.gov/pubmed/16308660
Synonyms

BBS8 [EXACT]

Xrefs

GARD:10207

ICD10CM:Q87.89

OMIM:615985

Relationships

is_a Bardet-Biedl syndrome

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