OBO ID: DOID:3263
Term Name: piebaldism Search Ontology:
Synonyms:
  • Partial albinism
  • PIEBALD TRAIT
Definition: An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively. (3)
References:
  • GARD:4344
  • ICD10CM:E70.39
  • MESH:D016116
  • NCI:C85009
  • OMIM:172800
  • ORDO:2884
  • SNOMEDCT_US_2020_03_01:718122005
  • UMLS_CUI:C0080024
Ontology: Human Disease   (DOID:3263)
OTHER piebaldism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIT Piebaldism 172800
SNAI2 Piebaldism 172800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None