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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 on chromosome 3q28. (DO)
Synonyms:exact_synonym: SHFM4
 primary_id: MESH:C565344
 alt_id: OMIM:605289;   RDO:0011973
For additional species annotation, visit the Alliance of Genome Resources.



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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)
ClinVar Annotator: match by term: Split-hand/foot malformation 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3366140 PMID:10839977 PMID:15736220 PMID:16688749 PMID:25741868 More... RGD:11568638, RGD:11568644 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      bone development disease 1414
        split hand-foot malformation 14
          split hand-foot malformation 4 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal dominant disease 4461
                split hand-foot malformation 4 1
paths to the root