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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 V
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Accession:DOID:0060375 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: OFD5;   OFDS V;   Oral-Facial-Digital Syndrome, Type V;   Oral-facial-digital syndrome 5;   Thurston syndrome;   orofaciodigital syndrome 5;   orofaciodigital syndrome Thurston type;   postaxial polydactyly with median cleft of upper lip
 primary_id: MESH:C557819
 alt_id: OMIM:174300;   RDO:0009983
 xref: ORDO:2919
For additional species annotation, visit the Alliance of Genome Resources.


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orofaciodigital syndrome V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by OMIM:174300
ClinVar Annotator: match by term: Orofaciodigital syndrome 5
OMIM
ClinVar
PMID:23972372 PMID:25741868 NCBI chr13:53,299,872...53,324,824
Ensembl chr13:53,299,872...53,324,824
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      orofaciodigital syndrome 16
        orofaciodigital syndrome V 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                orofaciodigital syndrome 16
                  orofaciodigital syndrome V 1
paths to the root