| 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://www.ncbi.nlm.nih.gov/pubmed/15485525, https://www.ncbi.nlm.nih.gov/pubmed/1717985, https://pubmed.ncbi.nlm.nih.gov/32975012/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:718122005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Partial albinism [EXACT] PIEBALD TRAIT [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |