FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term uveal coloboma-cleft lip and palate-intellectual disability ID (Ontology) DOID:0111249 (Human Disease)
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.
Also Known As "COB1" ; "coloboma-microphthalmos syndrome" ; "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" (for all, see Synonyms field below)
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 Genes
 uveal coloboma-cleft lip and palate-intellectual disability       1
 for disease ribbon | uveal coloboma-cleft lip and palate-intellectual disability       1
 model of | uveal coloboma-cleft lip and palate-intellectual disability       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                uveal coloboma-cleft lip and palate-intellectual disability  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "COB1" EXACT OMO:0003012
    "coloboma-microphthalmos syndrome" EXACT
    "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT
    "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT
    "Uveal coloboma-cleft lip/palate-mental retardation syndrome" EXACT
Secondary IDs
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GARD:1440
MESH:C535971
MIM:120433
ORDO:1473
UMLS_CUI:C0795902