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Experimental Factor Ontology
Last uploaded:
December 16, 2024
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| Preferred Name | obsolete_Gaucher disease | |
| Synonyms |
Glucocerebrosidase deficiency Acid beta-glucosidase deficiency GD |
|
| 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).
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|
| 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
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|
| preferred label |
obsolete_Gaucher disease
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|
| prefLabel |
obsolete_Gaucher disease
|
|
| reason_for_obsolescence |
Replaced with Mondo term.
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| term replaced by | ||
| subClassOf |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_355 | CCONT | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_355 | ORDO | SAME_URI |
| http://www.ebi.ac.uk/efo/EFO_0004721 | CCONT | LOOM |
| http://www.orpha.net/ORDO/Orphanet_355 | CCONT | LOOM |