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ONTOLOGY REPORT - ANNOTATIONS


Term:megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
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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
 narrow_synonym: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION
 primary_id: OMIM:613926
 alt_id: RDO:9000534
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megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 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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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 1
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Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  intellectual disability 1589
                    megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.