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Mondo Disease 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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| database_cross_reference |
SCTID:5963005 UMLS:C0268251 GARD:2443 MEDGEN:78653 NANDO:1200059 DOID:0110959 NANDO:2201212 Orphanet:77261 OMIM:231000
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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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| id |
MONDO:0009267
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| 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 |
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| label |
Gaucher disease type III
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| notation |
MONDO:0009267
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| prefLabel |
Gaucher disease type III
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0110959 http://identifiers.org/snomedct/5963005 http://linkedlifedata.com/resource/umls/id/C0268251 http://identifiers.org/medgen/78653 |
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| treeView | ||
| excluded subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0018384 http://purl.obolibrary.org/obo/MONDO_0018374 http://purl.obolibrary.org/obo/MONDO_0017014 |
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| subClassOf |
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