Waardenburg syndrome

Summary
Synonym
  • Waardenburg Shah syndrome
  • Waardenburg's syndrome
  • van der Hoeve Halbertsona Waardenburg syndrome
Definition
A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:9258
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1910 EDNRB endothelin receptor type B
4254 KITLG KIT ligand
4286 MITF melanocyte inducing transcription factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
13618 Ednrb endothelin receptor type B
17311 Kitl kit ligand
17342 Mitf melanogenesis associated transcription factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
50672 Ednrb endothelin receptor type B
60427 Kitlg KIT ligand

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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