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ONTOLOGY REPORT - ANNOTATIONS


Term:split hand-foot malformation 3
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Accession:DOID:0090025 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)
Synonyms:exact_synonym: CHROMOSOME 10q24 DUPLICATION SYNDROME;   SHFM3;   SHSF3;   distal limb deficiencies with micrognathia
 primary_id: MESH:C565437
 alt_id: OMIM:246560;   RDO:0008348;   RDO:0014073
For additional species annotation, visit the Alliance of Genome Resources.


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split hand-foot malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        split hand-foot malformation 13
          split hand-foot malformation 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  Micrognathism 38
                    split hand-foot malformation 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.