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| Term | erythrokeratodermia variabilis et progressiva 3 | ID (Ontology) | DOID:0080249 (Human Disease) |
| 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. | ||
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monogenic disease |__erythrokeratodermia variabilis__ autosomal genetic disease | |__autosomal dominant disease______| skin disease | |__erythrokeratodermia variabilis__| erythrokeratodermia variabilis et progressiva 3 |
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| Is a |
erythrokeratodermia variabilis autosomal dominant disease |
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| MIM:617525 | |||