Term Name: | erythrokeratodermia variabilis et progressiva 2 |
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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 ) |