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RGD uses the Human Disease Ontology (DO, 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:cardiofaciocutaneous syndrome 4
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Accession:DOID:0111463 term browser browse the term
Definition:A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in MAPK2K2 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: CFC4
 primary_id: OMIM:615280
For additional species annotation, visit the Alliance of Genome Resources.

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cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 OMIM
PMID:16439621 PMID:17366577 PMID:17981815 PMID:18042262 PMID:18413255 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:24033266 PMID:24265153 PMID:24803665 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29696744 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        cardiofaciocutaneous syndrome 8
          cardiofaciocutaneous syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          skin disease 2711
            Skin Abnormalities 616
              ectodermal dysplasia 252
                cardiofaciocutaneous syndrome 8
                  cardiofaciocutaneous syndrome 4 1
paths to the root