|
DOID:0111249 - uveal coloboma-cleft lip and palate-intellectual disability
Disease Ontology Definition:A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.
Synonyms: COB1, coloboma-microphthalmos syndrome, coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate, ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation, Uveal coloboma-cleft lip/palate-mental retardation syndrome
Xenbase Genes
:
yap1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)