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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the HEPACAM gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: MLC2B;   remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without impaired intellectual development;   remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without intellectual disability;   remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without mental retardation
 narrow_synonym: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT;   remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with mental retardation
 broad_synonym: HEPACAM-RELATED CONDITION
 primary_id: MIM:613926


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megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM
ClinVar		 PMID:20517947 PMID:21419380 PMID:21624973 PMID:22405205 PMID:23793458 More... NCBI chr 8:37,087,864...37,106,759 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7890
      Cysts 303
        megalencephalic leukoencephalopathy with subcortical cysts 5
          megalencephalic leukoencephalopathy with subcortical cysts 2B 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
paths to the root