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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 HEPACAM on chromosome 11q24. (DO)
Synonyms:exact_synonym: MLC2A
 primary_id: OMIM:613925
 alt_id: RDO:9000533
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613925
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
OMIM
ClinVar
PMID:21419380 PMID:25741868 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of cellular proliferation 5896
      Cysts 262
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 2A 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                Hereditary Central Nervous System Demyelinating Diseases 41
                  megalencephalic leukoencephalopathy with subcortical cysts 2
                    megalencephalic leukoencephalopathy with subcortical cysts 2A 1
paths to the root