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Human Disease
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Term ID
- DOID:0080523
- Synonyms
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- hereditary diffuse leukoencephalopathy with spheroids
- 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. (2)
- References
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- GARD:10981
- MIM:221820
- ORDO:313808
- Ontology
- Human Disease ( DOID:0080523 )
- is a type of
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Zebrafish Models