| Metadata | |
|---|---|
| ID | DOID:0110957 |
| Name | Gaucher's disease type I |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Acid Beta-Glucosidase Deficiency [EXACT] Gaucher Disease, Noncerebral Juvenile [EXACT] Gba Deficiency [EXACT] GD I [EXACT] GD1 [EXACT] Glucocerebrosidase Deficiency [EXACT] |
| Parent Relationships |
is_a Gaucher's disease |