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Metadata
ID DOID:0110141
Name Bardet-Biedl syndrome 19
Definition A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/24488770
Xrefs

ICD10CM:Q87.89

OMIM:615996

Synonyms

BBS19 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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