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ONTOLOGY REPORT - ANNOTATIONS


Term:megalencephalic leukoencephalopathy with subcortical cysts 2A
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Accession:DOID:0080318 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: MLC2A
 primary_id: OMIM:613925
 alt_id: RDO:9000533
For additional species annotation, visit the Alliance of Genome Resources.


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megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 0
    disease of cellular proliferation 5805
      Cysts 258
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 2A 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            Metabolic Brain Diseases 475
              Metabolic Brain Diseases, Inborn 409
                Hereditary Central Nervous System Demyelinating Diseases 38
                  megalencephalic leukoencephalopathy with subcortical cysts 2
                    megalencephalic leukoencephalopathy with subcortical cysts 2A 1
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