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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:Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
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Accession:DOID:9007380 term browser browse the term
Synonyms:exact_synonym: EPKHE;   SAM SYNDROME;   SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
 broad_synonym: DSG1-RELATED CONDITION
 primary_id: OMIM:615508



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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 term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      primary immunodeficiency disease 4144
        Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Eczematous Skin Diseases 267
                Exfoliative Dermatitis 12
                  Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
paths to the root