Preferred Name |
obsolete_Gaucher disease |
|
Synonyms |
GD Acid beta-glucosidase deficiency Glucocerebrosidase 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) (see these terms). |
|
ID |
http://www.orpha.net/ORDO/Orphanet_355 |
|
Obsolete |
true |
|
database_cross_reference |
MeSH:D005776 OMIM:608013 OMIM:610539 UMLS:C0017205 OMIM:230900 OMIM:230800 OMIM:231000 OMIM:231005 ICD10:E75.2 MedDRA:10018048 |
|
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) (see these terms). |
|
definition_citation |
orphanet |
|
deprecated |
true |
|
has_exact_synonym |
Glucocerebrosidase deficiency Acid beta-glucosidase deficiency GD |
|
label |
obsolete_Gaucher disease |
|
obsoleted_in_version |
3.41.0 |
|
prefLabel |
obsolete_Gaucher disease |
|
reason_for_obsolescence |
Replaced with Mondo term. |
|
term replaced by | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_355 | ORDO | SAME_URI |