Preferred Name |
Gaucher Disease |
|
Synonyms |
Glucosylceramide Beta-Glucosidase Deficiency Gaucher Disease |
|
Definitions |
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61268 |
|
code |
C61268 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
Contributing_Source |
Cellosaurus NICHD |
|
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. |
|
FULL_SYN |
Glucosylceramide Beta-Glucosidase Deficiency Gaucher Disease |
|
label |
Gaucher Disease |
|
Legacy Concept Name |
Gaucher_Disease |
|
Preferred_Name |
Gaucher Disease |
|
prefixIRI |
Thesaurus:C61268 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0017205 |
|
subClassOf |