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ONTOLOGY REPORT - ANNOTATIONS


Term:megalencephalic leukoencephalopathy with subcortical cysts 2B
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Accession:DOID:0080317 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: MLC2B;   megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
 narrow_synonym: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with mental retardation
 primary_id: OMIM:613926
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megalencephalic leukoencephalopathy with subcortical cysts 2B 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 16022
    disease of cellular proliferation 5888
      Cysts 259
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 2B 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.