loading...| Preferred Name |
Glucosylceramide_Beta-Glucosidase_Deficiency |
|
| Synonyms |
|
|
| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Glucosylceramide_Beta-Glucosidase_Deficiency |
|
| ID |
C61268 |
|
| NCI_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. |
|
| NCI_PT |
Gaucher Disease |
|
| NICHD_Definition |
_ |
|
| prefixIRI |
Glucosylceramide_Beta-Glucosidase_Deficiency |
|
| prefLabel |
Glucosylceramide_Beta-Glucosidase_Deficiency |
|
| Subset_Association1 |
NICHD Pediatric Terminology |
|
| Subset_Association2 |
Neonatal Research Network Terminology |
|
| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Fatty_Acid_Metabolism_Disorder |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/RCD/C3271 | RCD | LOOM |