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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:D72.0, ICD10CM:E70.330, MESH:D002609, NCI:C2941, ORDO:167, UMLS_CUI:C0007965
Definition: An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.

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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory