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Experimental Factor Ontology
| Preferred Name | Gaucher disease type II | |
| Synonyms |
Gaucher disease, type 2 Gaucher disease type 2 Gaucher disease, type II Gaucher disease, infantile cerebral Gd 2 Gaucher's disease type II infantile cerebral Gaucher disease Gaucher disease, acute neuronopathic type Gaucher disease type II acute neuronopathic Gaucher disease GD II |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009266 |
|
| database_cross_reference |
MEDGEN:78652 OMIM:230900 Orphanet:77260 NANDO:2201211 NANDO:1200058 UMLS:C0268250 SCTID:12246008 DOID:0110958 GARD:2442
|
|
| 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.
|
|
| exactMatch |
http://identifiers.org/snomedct/12246008 http://purl.obolibrary.org/obo/DOID_0110958 http://linkedlifedata.com/resource/umls/id/C0268250 |
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| has_exact_synonym |
Gaucher's disease type II infantile cerebral Gaucher disease Gaucher disease, acute neuronopathic type Gaucher disease type II acute neuronopathic Gaucher disease GD II
|
|
| has_related_synonym |
Gaucher disease, type 2 Gaucher disease type 2 Gaucher disease, type II Gaucher disease, infantile cerebral Gd 2
|
|
| id |
MONDO:0009266
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder |
|
| label |
Gaucher disease type II
|
|
| notation |
MONDO:0009266
|
|
| preferred label |
Gaucher disease type II
|
|
| prefLabel |
Gaucher disease type II
|
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0020143 |
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| subClassOf |
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