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ZIRC
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: An autosomal dominant disease 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:
Ontology: Human Disease   (DOID:0111249)
OTHER uveal coloboma-cleft lip and palate-intellectual disability PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 120433
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None