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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 4
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Accession:DOID:0090023 term browser browse the term
Definition:A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: SHFM4
 primary_id: MESH:C565344
 alt_id: OMIM:605289


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split hand-foot malformation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human)
DNA:missense mutations:exon:p.R227Q (c.680G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4		 OMIM
CTD
ClinVar
RGD		 PMID:3366140 PMID:9536098 PMID:10535733 PMID:10839977 PMID:12161593 More... RGD:11568638, RGD:11568644 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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 4 1
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 4 1
paths to the root