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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 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: OROFACIODIGITAL SYNDROME XVII ClinVar
OMIM
PMID:27158779 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      orofaciodigital syndrome 16
        orofaciodigital syndrome XVII 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                orofaciodigital syndrome 16
                  orofaciodigital syndrome XVII 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.