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.