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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Gaucher disease type I | |
| Synonyms |
Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1 non-cerebral juvenile Gaucher disease acid Beta-glucosidase deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I GD I Gba deficiency |
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| Definitions |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009265 |
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| altLabel |
Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1 non-cerebral juvenile Gaucher disease acid Beta-glucosidase deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I GD I Gba deficiency
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|
| definition |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
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|
| has_exact_synonym |
non-cerebral juvenile Gaucher disease acid Beta-glucosidase deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I GD I Gba deficiency
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| has_related_synonym |
Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1
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|
| label |
Gaucher disease type I
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|
| prefixIRI |
MONDO:0009265
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| prefLabel |
Gaucher disease type I
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|
| textual definition |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
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|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018150 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0018384 |
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