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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:24202401 PMID:25044933 PMID:25741868 More... NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Cysts 300
        megalencephalic leukoencephalopathy with subcortical cysts 5
          megalencephalic leukoencephalopathy with subcortical cysts 2B 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
paths to the root