1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070343 | CSF1R-related brain malformation and osteopetrosis | A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
