Piebaldism
Disease ID: disease_node_8616
Connections displayed (default: 10).
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| Dbxref | GARD:4344, ICD10CM:E70.39, MESH:D016116, MIM:172800, NCI:C85009, ORDO:2884, SNOMEDCT_US_2023_03_01:718122005, UMLS_CUI:C0080024 |
|---|---|
| Subclassof | DOID_0050736, DOID_16 |
| Data Source | DOID, MESH |
| Synonyms | PIEBALD TRAIT, Partial albinism |
| Mesh Id | D016116 |
| Mesh Label | Piebaldism |
| Mesh Subclassof | D000417 |
| Doid Label | piebaldism |
| Doid Description | 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. This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_8616 |
| Doid Id | DOID_3263 |
| Label | Piebaldism |
- Outgoing r'ship
SUBCLASS_OFto/from Integumentary System Disease(ID:disease_node_13866) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)