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Metadata
ID	DOID:0080249
Name	erythrokeratodermia variabilis et progressiva 3
Definition	An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. https://pubmed.ncbi.nlm.nih.gov/25398053/
Xrefs	MIM:617525
Parent Relationships	is_a autosomal dominant disease is_a erythrokeratodermia variabilis