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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 B | |
| Synonyms |
Niemann-Pick Disease, Type E|Niemann-Pick Disease, Non-Neuronopathic Type|Niemann-Pick Disease, Visceral|Niemann-Pick Disease, Adult Non-Neuronopathic |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12540 |
|
| abbrev | ||
| class_or_indiv |
true
|
|
| definition |
An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type) (MeSH).
|
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D052537 |
|
| external_ids |
meshUID:D052537
|
|
| label |
Niemann-Pick Disease, Type B
|
|
| mod_date |
2007-10-05
|
|
| preferred_label |
Niemann-Pick Disease, Type B
|
|
| prefixIRI |
birnlex_12540
|
|
| prefLabel |
Niemann-Pick Disease, Type B
|
|
| retired |
false
|
|
| synonyms |
Niemann-Pick Disease, Type E|Niemann-Pick Disease, Non-Neuronopathic Type|Niemann-Pick Disease, Visceral|Niemann-Pick Disease, Adult Non-Neuronopathic
|
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12538 |
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