OBO ID: DOID:0112012
Term Name: X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Search Ontology:
Synonyms:
  • OLMSX
  • X-linked Olmsted syndrome
Definition: A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (2)
References:
Ontology: Human Disease   (DOID:0112012)
OTHER X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MBTPS2 ?Olmsted syndrome, X-linked 300918
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None