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About: megalencephalic leukoencephalopathy with subcortical cysts 2B     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • megalencephalic leukoencephalopathy with subcortical cysts 2B (en)
described by
id
  • DOID:0080317
database_cross_reference
  • OMIM:613926
has_exact_synonym
  • megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24.
is topic of
is annotatedSource of
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