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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
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  disease 14759
    syndrome 4210
      Greig cephalopolysyndactyly syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    acrocephalosyndactylia 7
                      Greig cephalopolysyndactyly syndrome 1
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