Term Name: | erythrokeratodermia variabilis et progressiva 3 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080249] ( DOID:0080249 ) |