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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Gaucher disease | |
| Synonyms |
acute cerebral Gaucher disease glucosyl cerebroside lipidosis sphingolipidosis 1 Gaucher splenomegaly kerasin lipoidosis kerasin histiocytosis cerebroside lipidosis syndrome glucosylceramidase deficiency Gaucher's disease glucocerebrosidase deficiency glucocerebrosidosis kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease Gaucher syndrome glucosylceramide beta-glucosidase deficiency |
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| Definitions |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018150 |
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| altLabel |
acute cerebral Gaucher disease glucosyl cerebroside lipidosis sphingolipidosis 1 Gaucher splenomegaly kerasin lipoidosis kerasin histiocytosis cerebroside lipidosis syndrome glucosylceramidase deficiency Gaucher's disease glucocerebrosidase deficiency glucocerebrosidosis kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease Gaucher syndrome glucosylceramide beta-glucosidase deficiency
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|
| definition |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
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| has characteristic | ||
| has_exact_synonym |
glucosylceramidase deficiency Gaucher's disease glucocerebrosidase deficiency glucocerebrosidosis kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease Gaucher syndrome glucosylceramide beta-glucosidase deficiency
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| has_narrow_synonym |
acute cerebral Gaucher disease
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| has_related_synonym |
glucosyl cerebroside lipidosis sphingolipidosis 1 Gaucher splenomegaly kerasin lipoidosis kerasin histiocytosis cerebroside lipidosis syndrome
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| label |
Gaucher disease
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| prefixIRI |
MONDO:0018150
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| prefLabel |
Gaucher disease
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| textual definition |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
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| subClassOf |
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