"disease_ontology"^^ . . "OMIM:600329"^^ . "DOID:0070343"^^ . "CSF1R-related brain malformation and osteopetrosis"@en . "osteoporosis and infantile neuroaxonal dystrophy"^^ . . "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."^^ . .