OBO ID: DOID:0111711
Term Name: focal nonepidermolytic palmoplantar keratoderma 2 Search Ontology:
Synonyms:
  • FNEPPK2
Definition: A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/25285920
References:
Ontology: Human Disease   ( DOID:0111711 )
OTHER focal nonepidermolytic palmoplantar keratoderma 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPV3 ?Palmoplantar keratoderma, nonepidermolytic, focal 2
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None