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Metadata
ID	DOID:0080248
Name	erythrokeratodermia variabilis et progressiva 2
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. https://pubmed.ncbi.nlm.nih.gov/12648223/
Xrefs	MIM:617524
Parent Relationships	is_a autosomal dominant disease is_a erythrokeratodermia variabilis
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance