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Metadata
ID DOID:0110128
Name Bardet-Biedl syndrome 6
Definition A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
https://www.ncbi.nlm.nih.gov/pubmed/10973238, https://www.ncbi.nlm.nih.gov/pubmed/10973251
Xrefs

GARD:10205

ICD10CM:Q87.89

OMIM:605231

Synonyms

BBS6 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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