OBO ID: DOID:2935 |
Term Name: | Chediak-Higashi syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:2935 ) |
OTHER Chediak-Higashi syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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