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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Last uploaded:
April 11, 2018
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| Preferred Name | Niemann-Pick Disease | |
| Synonyms |
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| Definitions |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities ( SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12538 |
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| createdDate |
2007-10-05
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| definingCitationURI | ||
| definition |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities ( SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences (MeSH).
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| editorial note | ||
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| label |
Niemann-Pick Disease
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| MeshUid |
D009542
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| modifiedDate |
April 11, 2009
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| note |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities ( SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences (MeSH).
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| preferred label |
Niemann-Pick Disease
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| synonym |
Niemann-Pick Diseases Niemann-Pick's Disease Niemann Pick's Disease Niemann Pick Disease
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