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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;   Thurston syndrome;   oral-facial-digital syndrome 5;   oral-facial-digital syndrome, type V;   orofaciodigital syndrome 5;   orofaciodigital syndrome Thurston type;   postaxial polydactyly with median cleft of upper lip
 primary_id: MESH:C557819
 alt_id: OMIM:174300
 xref: ORDO:2919


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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 IAGP
EXP		 ClinVar Annotator: match by term: Orofaciodigital syndrome V
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16278897 PMID:23972372 PMID:25741868 PMID:25741915 PMID:28492532 More... NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      orofaciodigital syndrome 42
        orofaciodigital syndrome V 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              dysostosis 857
                orofaciodigital syndrome 42
                  orofaciodigital syndrome V 1
paths to the root