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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:uveal coloboma-cleft lip and palate-intellectual disability
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Accession:DOID:0111249 term browser browse the term
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. (DO)
Synonyms:exact_synonym: COB1;   coloboma, cleft lip/palate and mental retardation syndrome;   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, 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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by OMIM:120433
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
OMIM
ClinVar
PMID:4997531 PMID:24462371 PMID:25741868 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root