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ONTOLOGY REPORT - ANNOTATIONS


Term:uveal coloboma-cleft lip and palate-intellectual disability
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Accession:DOID:0111249 term browser browse the term
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. (DO)
Synonyms:exact_synonym: COB1;   Coloboma-microphthalmos syndrome;   coloboma, cleft lip/palate and mental retardation 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, with cleft lip and palate and mental retardation;   uveal coloboma-cleft lip/palate-mental retardation syndrome
 primary_id: MESH:C535971;   MESH:C565173
 alt_id: OMIM:120433;   RDO:0001361;   RDO:0013896
 xref: GARD:1440;   ORDO:1473
For additional species annotation, visit the Alliance of Genome Resources.


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uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  orofacial cleft 114
                    cleft palate 92
                      uveal coloboma-cleft lip and palate-intellectual disability 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.