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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;   YAP1-RELATED CONDITION;   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 impaired intellectual development;   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:C565173
 alt_id: MESH:C535971;   OMIM:120433
 xref: GARD:1440;   ORDO:1473


show annotations for term's descendants           Sort by:
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 yes-associated protein 1 ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        Congenital Abnormalities 7605
          Musculoskeletal Abnormalities 3334
            Craniofacial Abnormalities 2684
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 264
                  orofacial cleft 157
                    cleft lip 61
                      uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root