Experimental Factor Ontology

Last uploaded: March 18, 2024
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

http://purl.obolibrary.org/obo/MONDO_0018150

subClassOf

http://www.w3.org/2002/07/owl#Thing

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http://www.orpha.net/ORDO/Orphanet_355 ORDO SAME_URI