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Mondo Disease Ontology
| Preferred Name | Gaucher disease | |
| Synonyms |
acute cerebral Gaucher disease glucosyl cerebroside lipidosis sphingolipidosis 1 Gaucher splenomegaly kerasin lipoidosis kerasin histiocytosis cerebroside lipidosis syndrome glucosylceramidase deficiency Gaucher's disease glucocerebrosidase deficiency glucocerebrosidosis kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease Gaucher syndrome glucosylceramide beta-glucosidase 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018150 |
|
| database_cross_reference |
NANDO:1200056 NORD:1177 MedDRA:10018048 GARD:8233 UMLS:C0017205 ICD10CM:E75.22 Orphanet:355 MESH:D005776 MEDGEN:42164 icd11.foundation:1923566939 NCIT:C61268 DOID:1926 SCTID:190794006 NANDO:2200562
|
|
| 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).
|
|
| has_exact_synonym |
glucosylceramidase deficiency Gaucher's disease glucocerebrosidase deficiency glucocerebrosidosis kerasin thesaurismosis lipoid histiocytosis (kerasin type) acid beta-glucosidase deficiency glocucerebrosidase deficiency Gaucher disease Gaucher syndrome glucosylceramide beta-glucosidase deficiency
|
|
| has_narrow_synonym |
acute cerebral Gaucher disease
|
|
| has_related_synonym |
glucosyl cerebroside lipidosis sphingolipidosis 1 Gaucher splenomegaly kerasin lipoidosis kerasin histiocytosis cerebroside lipidosis syndrome
|
|
| id |
MONDO:0018150
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Gaucher disease
|
|
| notation |
MONDO:0018150
|
|
| prefLabel |
Gaucher disease
|
|
| skos_closeMatch | ||
| skos_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 |
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