About: megalencephalic leukoencephalopathy with subcortical cysts

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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	leukodystrophy
label	megalencephalic leukoencephalopathy with subcortical cysts (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080315
database_cross_reference	GARD:3445 MESH:C536141 OMIM:PS604004 ORDO:2478 SNOMEDCT_US_2021_09_01:703536004 UMLS_CUI:C1858854
has_exact_synonym	megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome (en) vacuolating megalencephalic leukoencephalopathy with subcortical cysts (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
is subClassOf of	megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephalic leukoencephalopathy with subcortical cysts 2B megalencephalic leukoencephalopathy with subcortical cysts 2A
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940738

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