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Metadata
ID DOID:0110136
Name Bardet-Biedl syndrome 14
Definition A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
https://www.ncbi.nlm.nih.gov/pubmed/18327255
Xrefs

ICD10CM:Q87.89

MESH:C567141

MIM:615991

Synonyms

BBS14 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

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