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Summary Literature (0)
DOID:0110136 - Bardet-Biedl syndrome 14

Disease Ontology Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.

Synonyms: BBS14

Xenbase Genes : tmem67, cep290

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014442 - Bardet-Biedl syndrome 14


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Bardet-Biedl syndrome (is_a)