Metadata | |
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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/ |
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Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |