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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
Xenbase Genes
:
lyst
| MONDO:0008963 - Chediak-Higashi syndrome |
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)