| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#comment | "A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood."xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1054 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/607616 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052537 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268243 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268248 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1843418 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2675644 |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#prefLabel | "Niemann-Pick disease B"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://purl.uniprot.org/core/mnemonic | "NPDB"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "NPB"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease intermediate with visceral involvement and rapid progression"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease adult non-neuronopathic form"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type E"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type F"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type I"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease visceral form"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Sphingomyelin lipidosis"xsd:string |
| http://purl.uniprot.org/diseases/2054 | http://www.w3.org/2004/02/skos/core#altLabel | "Sphingomyelinase deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/P17405#SIPE168B60CC66E7E61 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2054 |
| http://purl.uniprot.org/annotation/VAR_005058 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2054 |
| http://purl.uniprot.org/annotation/VAR_005059 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2054 |
| http://purl.uniprot.org/annotation/VAR_005061 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2054 |
| http://purl.uniprot.org/annotation/VAR_005062 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2054 |