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Human Disease and Mouse Model Detail
Human Disease Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige; EPKHE
OMIM ID: 615508
Synonyms Sam Syndrome; Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Dsg1a, Dsg1b DSG1*   2:1 Homology

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory