| Metadata | |
|---|---|
| ID | DOID:0080523 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080523 Copy |
| Name | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
| Definition | A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/28921817, https://www.ncbi.nlm.nih.gov/pubmed/27680516 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary diffuse leukoencephalopathy with spheroids [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a leukodystrophy |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance disease has basis in some gene |