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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Last uploaded:
April 11, 2018
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| Preferred Name | Niemann-Pick Disease, Type A | |
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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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| 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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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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| 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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