Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. [ Orphanet:77259 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0110957 (MONDO:equivalentTo)
  • GARD:0002441 (Orphanet-shared)
  • ICD10:E75.2 (Orphanet:77259)
  • OMIM:230800 (Orphanet:77259)
  • Orphanet:77259 (OMIM:230800)
Subsets

ordo_clinical_subtype

definition

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110957

http://identifiers.org/omim/230800

http://www.orpha.net/ORDO/Orphanet_77259

http://linkedlifedata.com/resource/umls/id/C1961835

has exact synonym

non-cerebral juvenile Gaucher disease

Gaucher's disease type I

GD I

acid Beta-glucosidase deficiency

glucocerebrosidase deficiency

Gba deficiency

Gaucher disease, noncerebral juvenile

has related synonym

Gaucher disease, type I

Gaucher disease, type 1

Gaucher disease type 1

Gd 1

id

MONDO:0009265