| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#comment | "An early-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. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. 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."xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1054 |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/257200 |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052536 |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268242 |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C2675646 |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#prefLabel | "Niemann-Pick disease A"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://purl.uniprot.org/core/mnemonic | "NPDA"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "NPA"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease intermediate protracted neurovisceral"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Classical Niemann-Pick disease"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease acute neuronopathic form"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease acute neurovisceral form"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease classical infantile form"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease neuronopathic type"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Niemann-Pick disease type I"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Sphingomyelin lipidosis"xsd:string |
| http://purl.uniprot.org/diseases/2053 | http://www.w3.org/2004/02/skos/core#altLabel | "Sphingomyelinase deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/P17405#SIPF81D3ADAAA547579 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2053 |
| http://purl.uniprot.org/annotation/VAR_005060 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2053 |
| http://purl.uniprot.org/annotation/VAR_005061 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2053 |
| http://purl.uniprot.org/annotation/VAR_005063 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2053 |
| http://purl.uniprot.org/annotation/VAR_005066 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2053 |
| http://purl.uniprot.org/annotation/VAR_005067 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2053 |