loading...| Preferred Name |
Gaucher Disease [Disease/Finding] |
|
| Synonyms |
Glucosylceramide Beta-Glucosidase Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001322 |
|
| altLabel |
Glucosylceramide Beta-Glucosidase Deficiency Gaucher Syndrome Gaucher's Disease Glucocerebrosidosis Kerasin Lipoidosis Kerasin thesaurismosis Glucocerebrosidase Deficiency Glucosyl Cerebroside Lipidosis Lipoid Histiocytosis (Kerasin Type) Glucosylceramide Lipidosis Glucosylceramide Beta-Glucosidase Deficiency Disease Gaucher Splenomegaly Gaucher Disease Cerebroside Lipidosis Syndrome Gauchers Disease Glucosylceramidase Deficiency Acid beta-Glucosidase Deficiency Glucocerebrosidase Deficiency Disease Acid beta-Glucosidase Deficiency Disease Kerasin Histiocytosis |
|
| cui |
C0017205 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000156262 http://purl.bioontology.org/ontology/NDFRT/N0000185379 http://purl.bioontology.org/ontology/NDFRT/N0000172058 http://purl.bioontology.org/ontology/NDFRT/N0000164426 http://purl.bioontology.org/ontology/NDFRT/N0000148376 http://purl.bioontology.org/ontology/NDFRT/N0000157290 http://purl.bioontology.org/ontology/NDFRT/N0000147683 http://purl.bioontology.org/ontology/NDFRT/N0000191083 http://purl.bioontology.org/ontology/NDFRT/N0000180930 http://purl.bioontology.org/ontology/NDFRT/N0000147483 http://purl.bioontology.org/ontology/NDFRT/N0000191178 http://purl.bioontology.org/ontology/NDFRT/N0000180860 |
|
| MESH DEFINITION |
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. |
|
| MESH DUI |
D005776 |
|
| MeSH name |
Gaucher Disease |
|
| MESH UI |
M0009048 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001322 |
|
| NUI |
N0000001322 |
|
| prefLabel |
Gaucher Disease [Disease/Finding] |
|
| SNOMED CID |
190794006 180485001 |
|
| tui |
T047 |
|
| subClassOf |