| GTO ID(s) | GTC1166 | GTC0001 |
| Disease Name | Gaucher's Disease |
| Synonyms | gaucher's disease, gaucher disease, gaucher disease, acute neuronopathic, gaucher disease, type iii, gaucher disease, type 1 |
| Definition | DO:A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
| Xref | DO:1926 | MESH:D005776 | NCI:C61268 | GARD:8233 | MONDO:0018150 | MSH:D005776 | ORDO:355 | SNOMEDCT_US_2023_03_01:190794006 | UMLS_CUI:C0017205 |
| Disease Group | Genetic Disease |