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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:cardiofaciocutaneous syndrome 3
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Accession:DOID:0111462 term browser browse the term
Definition:A complex developmental disorder involving macrostomia and horizontal shape of palpebral fissures. (OMIM)
Synonyms:exact_synonym: CFC3
 broad_synonym: MAP2K1-RELATED DISORDER
 primary_id: OMIM:615279
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        cardiofaciocutaneous syndrome 7
          cardiofaciocutaneous syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Skin Abnormalities 658
              ectodermal dysplasia 250
                cardiofaciocutaneous syndrome 7
                  cardiofaciocutaneous syndrome 3 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.