| Term Name: | Gaucher's disease type I |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0110957] ( DOID:0110957 ) |