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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.