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 the KIT gene on chromosome 4q12. (3)
References:
  • GARD:4344
  • ICD10CM:E70.39
  • MESH:D016116
  • NCI:C85009
  • OMIM:172800
  • ORDO:2884
  • SNOMEDCT_US_2023_03_01:718122005
  • UMLS_CUI:C0080024
Ontology: Human Disease   ( DOID:3263 )
Relationships
is a type of:
OTHER piebaldism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIT Piebaldism 172800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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