Term Name: erythrokeratodermia variabilis et progressiva 2
Synonyms:
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.
Ontology: Human Disease [DOID:0080248]   ( DOID:0080248 )

Relationships
is a type of: autosomal dominant disease erythrokeratodermia variabilis