ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:615508
 alt_id: RDO:9000972
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Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      primary immunodeficiency disease 930
        Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Eczematous Skin Diseases 251
              Exfoliative Dermatitis 10
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.