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ZIRC
OBO ID: DOID:0080523
Term Name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   (DOID:0080523)
OTHER adult-onset leukoencephalopathy with axonal spheroids and pigmented glia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids 221820
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)