Csf1R-Related Brain Malformation And Osteopetrosis
Disease ID: disease_node_19915
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| Dbxref | MIM:600329 |
|---|---|
| Subclassof | DOID_2367 |
| Data Source | DOID |
| Synonyms | osteoporosis and infantile neuroaxonal dystrophy |
| Doid Label | CSF1R-related brain malformation and osteopetrosis |
| Doid Description | 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. |
| Disease Node Id | disease_node_19915 |
| Doid Id | DOID_0070343 |
| Label | Csf1R-Related Brain Malformation And Osteopetrosis |
- Outgoing r'ship
SUBCLASS_OFto/from Neuroaxonal Dystrophies(ID:disease_node_9889) (Disease)