Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
go back to main search page
Accession:DOID:9007380 term browser browse the term
Synonyms:exact_synonym: EPKHE;   SAM SYNDROME;   SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
 primary_id: OMIM:615508
 alt_id: RDO:9000972
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by OMIM:615508 OMIM
ClinVar
PMID:23974871 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    syndrome 8040
      primary immunodeficiency disease 2698
        Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        sensory system disease 5597
          skin disease 2947
            Eczematous Skin Diseases 261
              Exfoliative Dermatitis 10
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
paths to the root