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Metadata
ID DOID:3263
Name piebaldism
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.
https://pubmed.ncbi.nlm.nih.gov/32975012/, https://www.ncbi.nlm.nih.gov/pubmed/15485525, https://www.ncbi.nlm.nih.gov/pubmed/1717985
Xrefs

GARD:4344

ICD10CM:E70.39

MESH:D016116

MIM:172800

NCI:C85009

ORDO:2884

SNOMEDCT_US_2023_03_01:718122005

UMLS_CUI:C0080024

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Partial albinism [EXACT]

PIEBALD TRAIT [EXACT]

Parent Relationships

is_a integumentary system disease

is_a autosomal dominant disease

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