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piebaldism
Summary
- Synonym
-
- PIEBALD TRAIT
- Partial albinism
- 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.
- Super Class
- autosomal dominant disease integumentary system disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16442 | Histo-blood group ABO system transferase | |
| P27797 | Calreticulin |
