DISEASES

Disease-gene associations mined from literature

Human genes for Chediak-Higashi syndrome

Chediak-Higashi syndrome [DOID:2935]

An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene.

Synonyms:  Chediak-Higashi syndrome,  ChediakHigashi syndrome,  Chediak-Higashi disease,  Chediak-Higashi disorder,  DOID:2935 ...

Linkouts:  OMIM