. "Niemann-Pick disease type C1"^^ . "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2."^^ . . "NPC1"@en . _:vb50939740 . "DOID:0070113"^^ . _:vb50939740 . _:vb50939740 . "OMIM:257220"^^ . "disease_ontology"^^ . . _:vb50939740 . "GARD:7207"^^ . _:vb50939740 . "ICD10CM:E75.2"^^ .