Human genes for Chediak-Higashi syndrome
Chediak-Higashi syndrome [DOID:2935]
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.
Synonyms: Chediak-Higashi syndrome, ChediakHigashi syndrome, Chediak-Higashi disease, Chediak-Higashi disorder, Chediak-Higashi syndromes ...
Linkouts: OMIM