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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 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 the HEPACAM gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: MLC2A
 broad_synonym: HEPACAM-RELATED CONDITION
 primary_id: MIM:613925


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megalencephalic leukoencephalopathy with subcortical cysts 2A 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: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar		 PMID:21419380 PMID:25044933 PMID:25741868 PMID:26633542 PMID:28492532 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 2A 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
            Metabolic Brain Diseases 1511
              Metabolic Brain Diseases, Inborn 1380
                Hereditary Central Nervous System Demyelinating Diseases 119
                  megalencephalic leukoencephalopathy with subcortical cysts 5
                    megalencephalic leukoencephalopathy with subcortical cysts 2A 1
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