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DO Term : CSF1R-related brain malformation and osteopetrosis [DOID:0070343] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:600329,
  • osteoporosis and infantile neuroaxonal dystrophy,
  • 600329
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents