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ONTOLOGY REPORT - ANNOTATIONS


Term:Postaxial Polydactyly, Type A8
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Accession:DOID:9009258 term browser browse the term
Definition:A disease characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails. PAPA8 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: PAPA8
 primary_id: OMIM:618123
For additional species annotation, visit the Alliance of Genome Resources.


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Postaxial Polydactyly, Type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15502
    physical disorder 762
      polydactyly 116
        Postaxial Polydactyly 15
          Postaxial Polydactyly, Type A8 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Musculoskeletal Abnormalities 1345
            Congenital Limb Deformities 415
              polydactyly 116
                Postaxial Polydactyly 15
                  Postaxial Polydactyly, Type A8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.