Link to this page
Biomedical Informatics Research Network Project Lexicon
Last uploaded:
March 24, 2008
Jump to:
| Preferred Name | Niemann-Pick Disease, Type C | |
| Synonyms |
Niemann-Pick Disease, Type D|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Nova Scotian|Niemann-Pick Disease, Chronic Neuronopathic Form|Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia|Niemann-Pick Disease with Cholesterol Esterification Block |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12541 |
|
| abbrev | ||
| class_or_indiv |
true
|
|
| definition |
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry (MeSH).
|
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D052556 |
|
| external_ids |
meshUID:D052556
|
|
| label |
Niemann-Pick Disease, Type C
|
|
| mod_date |
2007-10-05
|
|
| preferred_label |
Niemann-Pick Disease, Type C
|
|
| prefixIRI |
birnlex_12541
|
|
| prefLabel |
Niemann-Pick Disease, Type C
|
|
| retired |
false
|
|
| synonyms |
Niemann-Pick Disease, Type D|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Nova Scotian|Niemann-Pick Disease, Chronic Neuronopathic Form|Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia|Niemann-Pick Disease with Cholesterol Esterification Block
|
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12538 |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping