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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:11462173, PMID:23736768 RGD:11568638, RGD:11568644 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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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 4 1
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 4 1
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.