Metadata | |
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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 |
SNOMEDCT_US_2023_03_01:718122005 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Partial albinism [EXACT] PIEBALD TRAIT [EXACT] |
Parent Relationships |