| Metadata | |
|---|---|
| ID | DOID:0110958 |
| Name | Gaucher's disease type II |
| Definition | A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/10649495, https://www.ncbi.nlm.nih.gov/pubmed/2880291 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Gaucher Disease, Acute Neuronopathic Type [EXACT] GD II [EXACT] GD2 [EXACT] Infantile Cerebral Gaucher Disease [EXACT] |
| Parent Relationships |
is_a Gaucher's disease |