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Experimental Factor Ontology
| Preferred Name | Gaucher disease type I | |
| Synonyms |
Gaucher disease type 1 Gaucher disease, type I Gaucher disease, type 1 Gd 1 Gaucher's disease type I non-cerebral juvenile Gaucher disease Gba deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile acid Beta-glucosidase deficiency GD I |
|
| Definitions |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009265 |
|
| database_cross_reference |
DOID:0110957 OMIM:230800 UMLS:C1961835 NANDO:2201210 MEDGEN:409531 NANDO:1200057 SCTID:62201009 Orphanet:77259 GARD:2441
|
|
| definition |
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
|
|
| exactMatch |
http://identifiers.org/medgen/409531 http://identifiers.org/snomedct/62201009 http://purl.obolibrary.org/obo/DOID_0110957 |
|
| has_exact_synonym |
Gaucher's disease type I non-cerebral juvenile Gaucher disease Gba deficiency Gaucher disease type I Gaucher disease, noncerebral juvenile acid Beta-glucosidase deficiency GD I
|
|
| has_related_synonym |
Gaucher disease type 1 Gaucher disease, type I Gaucher disease, type 1 Gd 1
|
|
| id |
MONDO:0009265
|
|
| 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 I
|
|
| notation |
MONDO:0009265
|
|
| preferred label |
Gaucher disease type I
|
|
| prefLabel |
Gaucher disease type I
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018150 http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0018374 |
| Delete | Subject | Author | Type | Created |
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