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Metadata
ID DOID:0110139
Name Bardet-Biedl syndrome 17
Definition A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
https://www.ncbi.nlm.nih.gov/pubmed/22510444, https://www.ncbi.nlm.nih.gov/pubmed/23692385
Xrefs

ICD10CM:Q87.89

OMIM:615994

Synonyms

BBS17 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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