About: megalencephalic leukoencephalopathy with subcortical cysts 2A

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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 megalencephalic leukoencephalopathy with subcortical cysts nodeID://b50940743
label	megalencephalic leukoencephalopathy with subcortical cysts 2A (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080318
database_cross_reference	OMIM:613925
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940744

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