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Gaucher Disease Type I (MONDO:0009265)

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

Overview

Category

Ontology ID

Internal:10506

Synonyms

Gaucher disease type I

Gaucher disease, noncerebral juvenile

Gaucher's disease type I

Gba deficiency

acid Beta-glucosidase deficiency

non-cerebral juvenile Gaucher disease

Gaucher disease type 1

Gaucher disease, type 1

Gaucher disease, type I

Gd 1

Mapped terms

DOID:0110957

GARD:0002441

MEDGEN:409531

NANDO:1200057

NANDO:2201210

OMIM:230800

Orphanet:77259

SCTID:62201009

UMLS:C1961835

Child terms

Unknown children.