erythrokeratodermia variabilis et progressiva 2 (DOID:0080248)
Alliance: disease page
Alt IDs: OMIM:617524
Definition: An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.