|OBO ID: DOID:2935|
|Term Name:||Chediak-Higashi syndrome||Search 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. (2)|
|Ontology:||Human Disease (DOID:2935)|
|is a type of:||
OTHER Chediak-Higashi syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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