ZFIN Human Disease: uveal coloboma-cleft lip and palate-intellectual disability

OBO ID: DOID:0111249

Term Name:	uveal coloboma-cleft lip and palate-intellectual disability		Search Ontology:
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
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. https://www.ncbi.nlm.nih.gov/pubmed/24462371
References:	GARD:1440 MESH:C535971 OMIM:120433 ORDO:1473 UMLS_CUI:C0795902
Ontology:	Human Disease ( DOID:0111249 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
YAP1	yap1	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	120433

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None