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Erythrokeratodermia Variabilis

Disease ID: disease_node_12187

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DbxrefMESH:D056266, MIM:PS133200, NCI:C84696, ORDO:317, SNOMEDCT_US_2023_03_01:70041004, UMLS_CUI:C0265961, UMLS_CUI:C1851480
SubclassofDOID_37, DOID_0050177
Data SourceDOID, MESH
SynonymsErythrokeratodermia Figurata Variabilis, Greither Disease
Mesh IdD056266
Mesh LabelErythrokeratodermia Variabilis
Mesh SubclassofD004890, D007642, D012873
Doid Labelerythrokeratodermia variabilis
Doid DescriptionA 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. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_12187
Doid IdDOID_0050467
Disease Has Basis InSO_0000704
LabelErythrokeratodermia Variabilis