OBO ID: DOID:0080248
Term Name: erythrokeratodermia variabilis et progressiva 2 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080248 )
OTHER erythrokeratodermia variabilis et progressiva 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB4 Erythrokeratodermia variabilis et progressiva 2 617524
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None