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Digital medicine Outcomes Value Set (DOVeS) Ontology
Preferred Name | Gaucher disease type III | |
Synonyms |
Gaucher disease type 3 Gaucher disease, type III Gaucher disease, type 3 Gaucher disease, type 3B Gaucher disease, Norrbottnian type Gaucher disease, type 3A Gd 3 Gaucher disease, juvenile and adult, cerebral Gaucher disease type III Gaucher's disease type III cerebral juvenile and adult form of Gaucher disease Gaucher disease, Subacute neuronopathic type Gaucher disease, subacute neuronopathic type GD III chronic neuronopathic Gaucher disease Gaucher disease, chronic neuronopathic type |
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Definitions |
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0009267 |
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altLabel |
Gaucher disease type 3 Gaucher disease, type III Gaucher disease, type 3 Gaucher disease, type 3B Gaucher disease, Norrbottnian type Gaucher disease, type 3A Gd 3 Gaucher disease, juvenile and adult, cerebral Gaucher disease type III Gaucher's disease type III cerebral juvenile and adult form of Gaucher disease Gaucher disease, Subacute neuronopathic type Gaucher disease, subacute neuronopathic type GD III chronic neuronopathic Gaucher disease Gaucher disease, chronic neuronopathic type
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definition |
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
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has_exact_synonym |
Gaucher disease, juvenile and adult, cerebral Gaucher disease type III Gaucher's disease type III cerebral juvenile and adult form of Gaucher disease Gaucher disease, Subacute neuronopathic type Gaucher disease, subacute neuronopathic type GD III chronic neuronopathic Gaucher disease Gaucher disease, chronic neuronopathic type
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has_related_synonym |
Gaucher disease type 3 Gaucher disease, type III Gaucher disease, type 3 Gaucher disease, type 3B Gaucher disease, Norrbottnian type Gaucher disease, type 3A Gd 3
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label |
Gaucher disease type III
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prefixIRI |
MONDO:0009267
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prefLabel |
Gaucher disease type III
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textual definition |
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
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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 http://purl.obolibrary.org/obo/MONDO_0018374 |
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