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)