Link to this page
Mondo Disease Ontology
| 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 |
|
| 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 |
Orphanet:77260 NANDO:1200058 SCTID:12246008 NANDO:2201211 GARD:2442 OMIM:230900 MEDGEN:78652 DOID:0110958 UMLS:C0268250
|
|
| 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.
|
|
| 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
|
|
| has_related_synonym |
Gaucher disease, type 2 Gaucher disease, type II Gaucher disease type 2 Gaucher disease, infantile cerebral Gd 2
|
|
| id |
MONDO:0009266
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
|
| label |
Gaucher disease type II
|
|
| notation |
MONDO:0009266
|
|
| prefLabel |
Gaucher disease type II
|
|
| skos_exactMatch |
http://identifiers.org/snomedct/12246008 http://purl.obolibrary.org/obo/DOID_0110958 http://linkedlifedata.com/resource/umls/id/C0268250 |
|
| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0020143 |
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |