FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term piebaldism ID (Ontology) DOID:3263 (Human Disease)
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.
Also Known As "Partial albinism" ; "PIEBALD TRAIT"
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 Genes
 piebaldism       1
 for disease ribbon | piebaldism       1
 model of | piebaldism       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
disease of anatomical entity      |
 |__integumentary system disease__|
                                  piebaldism  1 rec.
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Is a autosomal dominant disease
integumentary system disease
Part of
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Synonyms
  • "Partial albinism" EXACT
    "PIEBALD TRAIT" EXACT
Secondary IDs
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GARD:4344
ICD10CM:E70.39
MESH:D016116
MIM:172800
NCI:C85009
ORDO:2884
SNOMEDCT_US_2023_03_01:718122005
UMLS_CUI:C0080024