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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;   SHSF1;   SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;   Split hand foot deformity 1
 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

Term paths to the root
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 1 4
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                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.