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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


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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
ISS		 OMIM:183600
ClinVar Annotator: match by term: Split hand-foot malformation 1		 OMIM
MouseDO
ClinVar		 PMID:24496061 PMID:25196357 PMID:25741868 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407 		JBrowse link
G Dlx6 distal-less homeobox 6 ISS OMIM:183600 MouseDO NCBI chr 4:34,984,264...34,989,926
Ensembl chr 4:34,984,232...34,991,343 		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 3:57,130,539...57,289,943
Ensembl chr 3:57,130,551...57,289,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        split hand-foot malformation 65
          split hand-foot malformation 1 3
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                split hand-foot malformation 1 3
paths to the root