Gaucher's disease type I

Term ID

DOID:0110957

Synonyms

• Acid Beta-Glucosidase Deficiency
• Gaucher Disease, Noncerebral Juvenile
• Gba Deficiency
• GD I
• GD1
• Glucocerebrosidase Deficiency

Definition

A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/1897529

References

• ICD10CM:E75.2
• OMIM:230800
• ORDO:77259

Ontology

Human Disease   ( DOID:0110957 )