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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:orofaciodigital syndrome XX
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Accession:DOID:0060962 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: OFD20
 alt_id: DOID:9009195
 xref: MIM:620718;   MONDO:0958230


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orofaciodigital syndrome XX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab34 RAB34, member RAS oncogene family ISO ClinVar Annotator: match by term: Orofaciodigital syndrome XX OMIM
ClinVar		 PMID:25741868 PMID:37384395 PMID:37619988 NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      orofaciodigital syndrome 31
        orofaciodigital syndrome XX 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      musculoskeletal system disease 8478
        connective tissue disease 5948
          bone disease 4403
            bone development disease 2368
              dysostosis 628
                orofaciodigital syndrome 31
                  orofaciodigital syndrome XX 1
paths to the root