Bardet-Biedl syndrome 14 Disease Ontology Browser

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Disease Ontology Browser

Bardet-Biedl syndrome 14 (DOID:0110136)
Alliance: disease page
Synonyms: BBS14
Alt IDs: OMIM:615991, ICD10CM:Q87.89, MESH:C567141
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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