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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

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      bone development disease 891
        split hand-foot malformation 13
          split hand-foot malformation 4 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Congenital Limb Deformities 340
              split hand-foot malformation 13
                split hand-foot malformation 4 1
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