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Summary Literature (0)
DOID:2935 - Chediak-Higashi syndrome

Disease Ontology 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.

Synonyms: CHS, Chediak - Steinbrinck anomaly,

Echinobase Genes : lyst

OMIM:214500 - chediak-higashi syndrome; chs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)