piebaldism

Term ID

DOID:3263

Synonyms

• Partial albinism
• PIEBALD TRAIT

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. (3)

References

• GARD:4344
• ICD10CM:E70.39
• MESH:D016116
• NCI:C85009
• OMIM:172800
• ORDO:2884
• SNOMEDCT_US_2023_03_01:718122005
• UMLS_CUI:C0080024

Ontology

Human Disease   ( DOID:3263 )