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Metadata
ID DOID:0110131
Name Bardet-Biedl syndrome 9
Definition A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
https://www.ncbi.nlm.nih.gov/pubmed/16380913
Xrefs

GARD:10208

ICD10CM:Q87.89

OMIM:615986

Synonyms

BBS9 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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