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erythrokeratodermia variabilis

Disease Summary
Associated Targets (6)
Tbio

6


GARD Rare
Mondo Description A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0017851:  erythrokeratodermia variabilis
GARD:0003096: 
MESH:C536154: 
MESH:D056266: 
NCIT:C84696: 
OMIMPS:133200: 
Orphanet:316: 
Orphanet:317: 
SCTID:70041004: 
UMLS:C0265961: