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DO Term : uveal coloboma-cleft lip and palate-intellectual disability [DOID:0111249] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate,
  • OMIM:120433,
  • 120433,
  • Uveal coloboma-cleft lip/palate-mental retardation syndrome,
  • GARD:1440,
  • COB1,
  • MESH:C535971,
  • ORDO:1473,
  • ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation,
  • coloboma-microphthalmos syndrome,
  • UMLS_CUI:C0795902
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