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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:orofacial cleft 10
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Accession:DOID:0080403 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: OFC10;   nonsyndromic cleft lip with or without cleft palate 10
 primary_id: MESH:C566605
 alt_id: OMIM:613705
For additional species annotation, visit the Alliance of Genome Resources.



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orofacial cleft 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16990542 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    physical disorder 3128
      orofacial cleft 130
        orofacial cleft 10 2
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        Congenital Abnormalities 5651
          Musculoskeletal Abnormalities 2255
            Craniofacial Abnormalities 1968
              Maxillofacial Abnormalities 240
                Jaw Abnormalities 228
                  orofacial cleft 130
                    orofacial cleft 10 2
paths to the root