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

Disease Ontology 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.

Synonyms: Chediak - Steinbrinck anomaly, CHS

Echinobase Genes : lyst


MIM:
MIM:214500 - chediak-higashi syndrome; chs

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

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