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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 XVI
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Accession:DOID:0080254 term browser browse the term
Definition:An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: OFD16;   OFDS XVI;   oral-facial-digital syndrome, type XVI
 primary_id: OMIM:617563
For additional species annotation, visit the Alliance of Genome Resources.


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orofaciodigital syndrome XVI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI ClinVar
OMIM
PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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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 XVI 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 XVI 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.