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DO Term : piebaldism [DOID:3263] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:172800,
  • UMLS_CUI:C0080024,
  • Partial albinism,
  • ORDO:2884,
  • PIEBALD TRAIT,
  • GARD:4344,
  • 172800,
  • SNOMEDCT_US_2023_03_01:718122005,
  • NCI:C85009,
  • ICD10CM:E70.39,
  • MESH:D016116
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents