CSF1R-related brain malformation and osteopetrosis Disease Ontology Browser

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Disease Ontology Browser

CSF1R-related brain malformation and osteopetrosis (DOID:0070343)
Alliance: disease page
Synonyms: osteoporosis and infantile neuroaxonal dystrophy
Alt IDs: OMIM:600329
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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