erythrokeratodermia variabilis et progressiva 2

Term ID

DOID:0080248

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/12648223/

References

• MIM:617524

Ontology

Human Disease   ( DOID:0080248 )