_:vb50951330 . "Chediak-Higashi syndrome"^^ . "DOID:2935"^^ . . _:vb50951330 . . "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene."^^ . . . . "ICD10CM:E70.330"^^ . "disease_ontology"^^ . "ORDO:167"^^ . "CHS"@en . . "SNOMEDCT_US_2021_09_01:111396008"^^ . . "GARD:6035"^^ . _:vb50951330 . "OMIM:214500"^^ . "MESH:D002609"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . "Chediak - Steinbrinck anomaly"@en . _:vb50951330 . _:vb50951330 . "NCI:C2941"^^ . "UMLS_CUI:C0007965"^^ .