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Standards Ontologies Notations
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
Disease Ontology
DOID:3263
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3815 KIT KIT proto-oncogene, receptor tyrosine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
16590 Kit KIT proto-oncogene receptor tyrosine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
30256 kita KIT proto-oncogene, receptor tyrosine kinase a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
373579 kit.L KIT proto-oncogene receptor tyrosine kinase L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
175182 ver-1 Protein ver-1
186632 ver-4 Tyrosine-protein kinase receptor ver-4
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024