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| Term | erythrokeratodermia variabilis et progressiva 2 | ID (Ontology) | DOID:0080248 (Human Disease) |
| Definition | An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. | ||
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monogenic disease |__erythrokeratodermia variabilis__ autosomal genetic disease | |__autosomal dominant disease______| skin disease | |__erythrokeratodermia variabilis__| erythrokeratodermia variabilis et progressiva 2 |
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| Is a |
erythrokeratodermia variabilis autosomal dominant disease |
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| MIM:617524 | |||