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ONTOLOGY REPORT - ANNOTATIONS


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
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orofaciodigital syndrome V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx59 DEAD-box helicase 59 JBrowse link 13 53,299,872 53,324,824 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      orofaciodigital syndrome 13
        orofaciodigital syndrome V 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                orofaciodigital syndrome 13
                  orofaciodigital syndrome V 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.