About   Help   FAQ
Disease Ontology Browser
Chediak-Higashi syndrome (DOID:2935)
Alliance: disease page
Synonyms: Chediak - Steinbrinck anomaly; CHS
Alt IDs: OMIM:214500, ICD10CM:E70.330, MESH:D002609, NCI:C2941, ORDO:167, UMLS_CUI:C0007965
Definition: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.

Disease References using Mouse Models (17)

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, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/24/2023
MGI 6.22
The Jackson Laboratory