Link to this page
Biomedical Informatics Research Network Project Lexicon
Last uploaded:
March 24, 2008
Jump to:
| Preferred Name | Niemann-Pick Disease | |
| Synonyms |
Niemann-Pick Diseases |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12538 |
|
| abbrev | ||
| class_or_indiv |
true
|
|
| 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).
|
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D009542 |
|
| external_ids |
meshUID:D009542
|
|
| label |
Niemann-Pick Disease
|
|
| mod_date |
2007-10-05
|
|
| preferred_label |
Niemann-Pick Disease
|
|
| prefixIRI |
birnlex_12538
|
|
| prefLabel |
Niemann-Pick Disease
|
|
| retired |
false
|
|
| synonyms |
Niemann-Pick Diseases
|
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12526 |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping