About: agenesis of the corpus callosum with peripheral neuropathy

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About: agenesis of the corpus callosum with peripheral neuropathy 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://b50942037
label	agenesis of the corpus callosum with peripheral neuropathy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090003
has_alternative_id	DOID:0060600
database_cross_reference	ICD10CM:G60.0 OMIM:218000 ORDO:1496
has_exact_synonym	Andermann syndrome (en) Charlevoix disease (en) corpus callosum agenesis-neuronopathy syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942038

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