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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

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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