Term Name: | Gaucher's disease type I |
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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 ) |