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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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory