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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 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Craniofacial Abnormalities 1455
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 227
                  orofacial cleft 125
                    cleft lip 58
                      uveal coloboma-cleft lip and palate-intellectual disability 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.