Link to this page
Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
Jump to:
| Preferred Name | Gaucher Disease | |
| Synonyms |
|
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gaucher_Disease |
|
| DEFINITION |
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
|
|
| isDefinedBy |
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
|
|
| label |
Gaucher Disease
|
|
| prefixIRI |
Thesaurus:Gaucher_Disease
|
|
| prefLabel |
Gaucher Disease
|
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lysosomal_Storage_Disease http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lipid_Metabolism_Disorder |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping