Term Name:	Chediak-Higashi syndrome
Synonyms:	Chediak - Steinbrinck anomaly, CHS
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.
Ontology:	Human Disease [DOID:2935]   ( DOID:2935 )