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Biomedical Informatics Research Network Project Lexicon
Last uploaded:
March 24, 2008
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| Preferred Name | Niemann-Pick Disease, Type A | |
| Synonyms |
Sphingomyelinase Deficiency Disease|Niemann-Pick Disease, Acute Neuronopathic Form|Niemann-Pick Disease, Neuronopathic Type|Niemann-Pick Disease, Acute Neurovisceral Form|Classical Niemann-Pick Disease |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12539 |
|
| abbrev | ||
| class_or_indiv |
true
|
|
| 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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|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D052536 |
|
| external_ids |
meshUID:D052536
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|
| label |
Niemann-Pick Disease, Type A
|
|
| mod_date |
2007-10-05
|
|
| preferred_label |
Niemann-Pick Disease, Type A
|
|
| prefixIRI |
birnlex_12539
|
|
| prefLabel |
Niemann-Pick Disease, Type A
|
|
| retired |
false
|
|
| synonyms |
Sphingomyelinase Deficiency Disease|Niemann-Pick Disease, Acute Neuronopathic Form|Niemann-Pick Disease, Neuronopathic Type|Niemann-Pick Disease, Acute Neurovisceral Form|Classical Niemann-Pick Disease
|
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12538 |
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