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ONTOLOGY REPORT - ANNOTATIONS


Term:split hand-foot malformation 4
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Accession:DOID:0090023 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28. (DO)
Synonyms:exact_synonym: SHFM4
 primary_id: MESH:C565344
 alt_id: OMIM:605289;   RDO:0011973
For additional species annotation, visit the Alliance of Genome Resources.


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split hand-foot malformation 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:11568638
RGD:11568644
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      bone development disease 1263
        split hand-foot malformation 13
          split hand-foot malformation 4 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                split hand-foot malformation 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.