About: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

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About: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 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	autosomal recessive disease neurodegenerative disease nodeID://b50940177 nodeID://b50940178 nodeID://b50940179 nodeID://b50940180 nodeID://b50940181
label	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070352
database_cross_reference	OMIM:618170
has_exact_synonym	CONDSIAS
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940182

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