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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: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI OMIM
ClinVar
PMID:25741868 PMID:26595381 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      orofaciodigital syndrome 18
        orofaciodigital syndrome XVI 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              dysostosis 440
                orofaciodigital syndrome 18
                  orofaciodigital syndrome XVI 1
paths to the root