OBO ID: DOID:0080249
Term Name: erythrokeratodermia variabilis et progressiva 3 Search Ontology:
Synonyms:
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. https://pubmed.ncbi.nlm.nih.gov/25398053/
References:
Ontology: Human Disease   (DOID:0080249)
OTHER erythrokeratodermia variabilis et progressiva 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJA1 Erythrokeratodermia variabilis et progressiva 3 617525
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None