erythrokeratodermia variabilis

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Information
Disease name
erythrokeratodermia variabilis
Disease ID
DOID:0050467
Description
"A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis." [url:https\://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:37
Cross Reference ID (Disease Ontology)
MESH:D056266
Cross Reference ID (Disease Ontology)
MIM:PS133200
Cross Reference ID (Disease Ontology)
NCI:C84696
Cross Reference ID (Disease Ontology)
ORDO:317
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:70041004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0265961
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1851480
Exact Synonym (Disease Ontology)
Erythrokeratodermia Figurata Variabilis
Exact Synonym (Disease Ontology)
Greither Disease
MeSH unique ID (MeSH (Medical Subject Headings))
D056266