Version: 8.0.0
Date: Tue Jan 28 2025
erythrokeratodermia variabilis et progressiva 2
DOID:0080248
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

erythrokeratodermia variabilis et progressiva 2

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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None
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