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Term:split hand-foot malformation 1
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Accession:DOID:0090021 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. (DO)
Synonyms:exact_synonym: SHFD1;   SHFM1
 primary_id: OMIM:183600
 alt_id: RDO:9003150
 xref: ORDO:2440
For additional species annotation, visit the Alliance of Genome Resources.


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split hand-foot malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:13592920
G Dlx6 distal-less homeobox 6 JBrowse link 4 32,373,096 32,377,388 RGD:13592920
G Sem1 SEM1, 26S proteasome complex subunit JBrowse link 4 32,067,444 32,087,600 RGD:7240710

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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 1 3
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 1 3
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