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Experimental Factor Ontology
| Preferred Name | Gaucher disease type III | |
| Synonyms |
Gaucher disease, type 3B Gaucher disease, Norrbottnian type Gaucher disease, type 3 Gaucher disease type 3 Gaucher disease, type 3A Gaucher disease, type III Gd 3 Gaucher disease, chronic neuronopathic type Gaucher's disease type III Gaucher disease, juvenile and adult, cerebral Gaucher disease, subacute neuronopathic type Gaucher disease type III chronic neuronopathic Gaucher disease Gaucher disease, Subacute neuronopathic type cerebral juvenile and adult form of Gaucher disease GD III |
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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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009267 |
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| database_cross_reference |
Orphanet:77261 OMIM:231000 NANDO:2201212 DOID:0110959 NANDO:1200059 SCTID:5963005 UMLS:C0268251 MEDGEN:78653 GARD:2443
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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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|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0110959 http://identifiers.org/snomedct/5963005 http://linkedlifedata.com/resource/umls/id/C0268251 http://www.orpha.net/ORDO/Orphanet_77261 |
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| has_exact_synonym |
Gaucher disease, chronic neuronopathic type Gaucher's disease type III Gaucher disease, juvenile and adult, cerebral Gaucher disease, subacute neuronopathic type Gaucher disease type III chronic neuronopathic Gaucher disease Gaucher disease, Subacute neuronopathic type cerebral juvenile and adult form of Gaucher disease GD III
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|
| has_related_synonym |
Gaucher disease, type 3B Gaucher disease, Norrbottnian type Gaucher disease, type 3 Gaucher disease type 3 Gaucher disease, type 3A Gaucher disease, type III Gd 3
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|
| id |
MONDO:0009267
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|
| 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 III
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|
| notation |
MONDO:0009267
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|
| preferred label |
Gaucher disease type III
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|
| prefLabel |
Gaucher disease type III
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| 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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