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RGD uses the Human Disease Ontology (DO, 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 XVII
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Accession:DOID:0080289 term browser browse the term
Definition:An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. (DO)
Synonyms:exact_synonym: OFD17;   OFDS XVII;   oral-facial-digital syndrome, type XVII
 primary_id: OMIM:617926
For additional species annotation, visit the Alliance of Genome Resources.

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orofaciodigital syndrome XVII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII OMIM
PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      orofaciodigital syndrome 18
        orofaciodigital syndrome XVII 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      musculoskeletal system disease 7212
        connective tissue disease 5011
          bone disease 3677
            bone development disease 1856
              dysostosis 441
                orofaciodigital syndrome 18
                  orofaciodigital syndrome XVII 1
paths to the root