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ONTOLOGY REPORT - ANNOTATIONS


Term:Preaxial Polydactyly
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Accession:DOID:9005329 term browser browse the term
Definition:Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. (OMIM)
Synonyms:xref: OMIM:PS174400
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Guttmacher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:7240710
RGD:11554173
RGD:8554872
Preaxial Polydactyly I 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:7240710
RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
Preaxial Polydactyly II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801447
RGD:12801448
Preaxial Polydactyly IV 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:12738221
RGD:12738141
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:12738220

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    physical disorder 763
      polydactyly 116
        Preaxial Polydactyly 7
          Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
          Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
          Guttmacher syndrome 1
          Preaxial Hallucal Polydactyly 0
          Preaxial Polydactyly I 2
          Preaxial Polydactyly II 2
          Preaxial Polydactyly III 0
          Preaxial Polydactyly IV 2
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        Congenital Abnormalities 3811
          Musculoskeletal Abnormalities 1346
            Congenital Limb Deformities 415
              polydactyly 116
                Preaxial Polydactyly 7
                  Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
                  Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
                  Guttmacher syndrome 1
                  Preaxial Hallucal Polydactyly 0
                  Preaxial Polydactyly I 2
                  Preaxial Polydactyly II 2
                  Preaxial Polydactyly III 0
                  Preaxial Polydactyly IV 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.