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


Disease Ontology Definition:A syndrome 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

In OMIM:
OMIM:214500 - CHEDIAK-HIGASHI SYNDROME; CHS

In Mondo Disease Ontology:
MONDO:0008963 - Chediak-Higashi syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lyst

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)