About: CSF1R-related brain malformation and osteopetrosis

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About: CSF1R-related brain malformation and osteopetrosis Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	neuroaxonal dystrophy
label	CSF1R-related brain malformation and osteopetrosis (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070343
database_cross_reference	OMIM:600329
has_exact_synonym	osteoporosis and infantile neuroaxonal dystrophy
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940160

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