Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. [ Orphanet:77261 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.2 (Orphanet:77261)
  • Orphanet:77261 (OMIM:231000)
  • OMIM:231000 (Orphanet:77261)
  • DOID:0110959 (MONDO:equivalentTo)
  • GARD:0002443 (Orphanet-shared)
  • SCTID:5963005 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

closeMatch

http://linkedlifedata.com/resource/umls/id/C1856493

http://linkedlifedata.com/resource/umls/id/C1856492

http://linkedlifedata.com/resource/umls/id/C1856491

definition

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.

exactMatch

http://identifiers.org/snomedct/5963005

http://identifiers.org/omim/231000

http://purl.obolibrary.org/obo/DOID_0110959

http://linkedlifedata.com/resource/umls/id/C0268251

http://www.orpha.net/ORDO/Orphanet_77261

has exact synonym

GD III

cerebral juvenile and adult form of Gaucher disease

Gaucher disease, subacute neuronopathic type

Gaucher disease, chronic neuronopathic type

Gaucher disease, Subacute neuronopathic type

Gaucher disease, juvenile and adult, cerebral

Gaucher's disease type III

chronic neuronopathic Gaucher disease

has related synonym

Gd 3

Gaucher disease, type 3B

Gaucher disease, type III

Gaucher disease, type 3

Gaucher disease, Norrbottnian type

Gaucher disease type 3

Gaucher disease, type 3A

id

MONDO:0009267