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Metadata
ID DOID:0050467
Name erythrokeratodermia variabilis
Definition 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.
https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis
Xrefs

MESH:D056266

NCI:C84696

OMIM:PS133200

ORDO:317

SNOMEDCT_US_2023_03_01:70041004

UMLS_CUI:C0265961

UMLS_CUI:C1851480

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Erythrokeratodermia Figurata Variabilis [EXACT]

Greither Disease [EXACT]

Parent Relationships

is_a skin disease

is_a monogenic disease

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