ONTOLOGY REPORT - ANNOTATIONS


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
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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
RGD:8554872
G Dlx6 distal-less homeobox 6 JBrowse link 4 32,373,096 32,377,388 RGD:13592920
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
G Sem1 SEM1, 26S proteasome complex subunit JBrowse link 4 32,067,444 32,087,600 RGD:7240710

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Path 1
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  disease 14926
    Developmental Diseases 7774
      bone development disease 895
        split hand-foot malformation 13
          split hand-foot malformation 1 4
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Musculoskeletal Abnormalities 1197
            Congenital Limb Deformities 345
              split hand-foot malformation 13
                split hand-foot malformation 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.