| Metadata | |
|---|---|
| ID | DOID:0110959 |
| Name | Gaucher's disease type III |
| Definition | A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/2378352, https://www.ncbi.nlm.nih.gov/pubmed/8413956 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Gaucher Disease, Chronic Neuronopathic Type [EXACT] Gaucher Disease, Juvenile And Adult, Cerebral [EXACT] Gaucher Disease, Subacute Neuronopathic Type [EXACT] GD III [EXACT] |
| Parent Relationships |
is_a Gaucher's disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |