loading...| Preferred Name |
Gaucher's disease |
|
| Synonyms |
kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease glucosylceramide beta-glucosidase deficiency |
|
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1926 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2016_03_01:2859005 SNOMEDCT_US_2016_03_01:180485001 SNOMEDCT_US_2016_03_01:190794006 ICD10CM:E75.22 ORDO:355 UMLS_CUI:C0017205 MESH:D005776 NCI:C61268 SNOMEDCT_US_2016_03_01:62201009 |
|
| definition |
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
|
| has exact synonym |
kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease glucosylceramide beta-glucosidase deficiency |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1926 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
Gaucher's disease |
|
| notation |
DOID:1926 |
|
| prefLabel |
Gaucher's disease |
|
| subClassOf |