About   Help   FAQ
Disease Ontology Browser
Waardenburg syndrome type 2E (DOID:0110956)
Alliance: disease page
Synonyms: hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; WS2E; WS2E with or without neurological involvement
Alt IDs: OMIM:611584
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory