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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 deformity 1;   split-hand/foot malformation 1 with or without deafness
 primary_id: OMIM:183600
For additional species annotation, visit the Alliance of Genome Resources.

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split hand-foot malformation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: Split-hand/foot malformation 1 ClinVar
OMIM		 PMID:24496061, PMID:25196357 NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007 		JBrowse link
G Dlx6 distal-less homeobox 6 ISS OMIM:183600 MouseDO NCBI chr 4:32,373,096...32,377,388
Ensembl chr 4:32,373,641...32,377,253 		JBrowse link
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Split-hand/foot malformation 1 ClinVar PMID:26755636 NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        split hand-foot malformation 13
          split hand-foot malformation 1 3
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                split hand-foot malformation 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.