FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term CSF1R-related brain malformation and osteopetrosis ID (Ontology) DOID:0070343 (Human Disease)
Definition 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.
Also Known As "osteoporosis and infantile neuroaxonal dystrophy"
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  cerebral degeneration
   |__neuroaxonal dystrophy
       |__CSF1R-related brain malformation and osteopetrosis
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Is a neuroaxonal dystrophy
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  • "osteoporosis and infantile neuroaxonal dystrophy" EXACT
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MIM:600329