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Experimental Factor Ontology
| Preferred Name | Gaucher disease | |
| Synonyms |
acute cerebral Gaucher disease glucosyl cerebroside lipidosis kerasin histiocytosis cerebroside lipidosis syndrome Gaucher splenomegaly sphingolipidosis 1 kerasin lipoidosis acid beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) glucosylceramidase deficiency Gaucher syndrome Gaucher disease glucosylceramide beta-glucosidase deficiency glucocerebrosidosis Gaucher's disease glucocerebrosidase deficiency glocucerebrosidase deficiency |
|
| Definitions |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018150 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018150 |
|
| database_cross_reference |
NANDO:2200562 UMLS:C0017205 MEDGEN:42164 NANDO:1200056 Orphanet:355 NCIT:C61268 icd11.foundation:1923566939 ICD10CM:E75.22 MedDRA:10018048 SCTID:190794006 MESH:D005776 DOID:1926 GARD:8233 NORD:1177
|
|
| definition |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
|
|
| exactMatch |
http://identifiers.org/medgen/42164 http://purl.obolibrary.org/obo/DOID_1926 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1923566939 http://identifiers.org/mesh/D005776 http://purl.bioontology.org/ontology/ICD10CM/E75.22 http://identifiers.org/snomedct/190794006 http://purl.obolibrary.org/obo/NCIT_C61268 |
|
| gwas_trait |
true
|
|
| has_exact_synonym |
acid beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) glucosylceramidase deficiency Gaucher syndrome Gaucher disease glucosylceramide beta-glucosidase deficiency glucocerebrosidosis Gaucher's disease glucocerebrosidase deficiency glocucerebrosidase deficiency
|
|
| has_narrow_synonym |
acute cerebral Gaucher disease
|
|
| has_related_synonym |
glucosyl cerebroside lipidosis kerasin histiocytosis cerebroside lipidosis syndrome Gaucher splenomegaly sphingolipidosis 1 kerasin lipoidosis
|
|
| id |
MONDO:0018150
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
Gaucher disease
|
|
| notation |
MONDO:0018150
|
|
| preferred label |
Gaucher disease
|
|
| prefLabel |
Gaucher disease
|
|
| subClassOf |
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