ONTOLOGY REPORT - ANNOTATIONS


Term:Greig cephalopolysyndactyly syndrome
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Accession:DOID:14761 term browser browse the term
Definition:An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)
Synonyms:exact_synonym: GCPS;   Greig Cephalopolysyndactyly (Gcps) Syndrome;   Greig syndrome;   cephalopolysyndactyly syndrome;   polysyndactyly with peculiar skull shape;   polysyndactyly with peculiars skull shape
 narrow_synonym: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
 primary_id: MESH:C537300
 alt_id: OMIM:175700;   RDO:0003119
 xref: GARD:6550
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Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:7240710
RGD:8554872
RGD:11554173
RGD:12738141
RGD:12738205
RGD:12738208
RGD:12738222

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Greig cephalopolysyndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    acrocephalosyndactylia 7
                      Greig cephalopolysyndactyly syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.