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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Niemann-Pick Disease, Type A | |
| Synonyms |
Niemann-Pick Disease, Neuronopathic Type Classical Niemann-Pick Disease Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick's Disease, Type A Niemann Pick's Disease, Type A Niemann-Pick Disease, Acute Neurovisceral Form Sphingomyelinase Deficiency Disease |
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| Definitions |
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12539 |
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| alternative label |
Niemann-Pick Disease, Neuronopathic Type Classical Niemann-Pick Disease Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick's Disease, Type A Niemann Pick's Disease, Type A Niemann-Pick Disease, Acute Neurovisceral Form Sphingomyelinase Deficiency Disease
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| createdDate |
2007-10-05
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| definition |
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage (MeSH).
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| editorial note | ||
| externalSourceId |
D052536
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| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasExternalSource | ||
| label |
Niemann-Pick Disease, Type A
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| MeshUid |
D052536
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| modifiedDate |
April 11, 2009
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| note |
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage (MeSH).
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| preferred label |
Niemann-Pick Disease, Type A
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| Resource Identifier |
D052536
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| synonym |
Niemann-Pick Disease, Neuronopathic Type Classical Niemann-Pick Disease Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick's Disease, Type A Niemann Pick's Disease, Type A Niemann-Pick Disease, Acute Neurovisceral Form Sphingomyelinase Deficiency Disease
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| subClassOf |
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