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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 II | |
| Synonyms |
Gaucher disease, type 2 Gaucher disease, type II Gaucher disease type 2 Gaucher disease, infantile cerebral Gd 2 acute neuronopathic Gaucher disease GD II Gaucher disease, acute neuronopathic type Gaucher's disease type II Gaucher disease type II infantile cerebral Gaucher disease |
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| Definitions |
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009266 |
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| altLabel |
Gaucher disease, type 2 Gaucher disease, type II Gaucher disease type 2 Gaucher disease, infantile cerebral Gd 2 acute neuronopathic Gaucher disease GD II Gaucher disease, acute neuronopathic type Gaucher's disease type II Gaucher disease type II infantile cerebral Gaucher disease
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|
| definition |
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
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| has_exact_synonym |
acute neuronopathic Gaucher disease GD II Gaucher disease, acute neuronopathic type Gaucher's disease type II Gaucher disease type II infantile cerebral Gaucher disease
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| has_related_synonym |
Gaucher disease, type 2 Gaucher disease, type II Gaucher disease type 2 Gaucher disease, infantile cerebral Gd 2
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| label |
Gaucher disease type II
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| prefixIRI |
MONDO:0009266
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| prefLabel |
Gaucher disease type II
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|
| textual definition |
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018150 |
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