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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: DLX6-RELATED CONDITION;   SHFD1;   SHFM1;   SHSF1;   split hand foot deformity 1;   split-hand/foot malformation 1 with or without deafness
 broad_synonym: DLX5-RELATED CONDITION
 primary_id: MIM:183600


show annotations for term's descendants           Sort by:
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 		ClinVar Annotator: match by term: Split hand-foot malformation 1
OMIM:183600 		OMIM
ClinVar
MouseDO		 PMID:24496061 PMID:25196357 PMID:25741868 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
G Dlx6 distal-less homeobox 6 ISS
ISO 		OMIM:183600
ClinVar Annotator: match by term: DLX6-related condition 		MouseDO
ClinVar		 PMID:28492532 NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354 		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 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        split hand-foot malformation 65
          split hand-foot malformation 1 3
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                split hand-foot malformation 1 3
paths to the root