| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#comment | "A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected."xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1054 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/257220 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052556 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0220756 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268247 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1850363 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3179455 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN068592 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN068593 |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#prefLabel | "Niemann-Pick disease C1"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://purl.uniprot.org/core/mnemonic | "NPC1"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "NPC"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease without sphingomyelinase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease Nova Scotian type"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease chronic neuronopathic form"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease subacute juvenile form"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type D"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type II"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia"xsd:string |
| http://purl.uniprot.org/diseases/2055 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease with cholesterol esterification block"xsd:string |
| http://purl.uniprot.org/uniprot/O15118#SIPB78ED7C5F244F994 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2055 |
| http://purl.uniprot.org/annotation/VAR_008815 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2055 |
| http://purl.uniprot.org/annotation/VAR_008820 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2055 |