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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
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Accession:DOID:0080315 term browser browse the term
Definition:A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)
Synonyms:exact_synonym: LVM;   VL;   Van Der Knapp disease;   infantile leukoencephalopathy and megalencephaly;   leukoencephalopathy with swelling and a discrepantly mild course;   leukoencephalopathy with swelling and cysts;   megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome;   megalencephaly-cystic leukodystrophy;   vacuolating leukoencephalopathy;   vacuolating megalencephalic leukoencephalopathy with subcortical cysts
 primary_id: MESH:C536141
 xref: GARD:3445;   OMIM:PS604004;   ORDO:2478
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12939431 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISS
ISO
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868 PMID:29389947 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 OMIM
ClinVar
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
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: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar
PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
JBrowse link
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 MENTAL RETARDATION | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM
ClinVar
PMID:20517947 PMID:21419380 PMID:25044933 PMID:25741868 PMID:28492532 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 18032
    disease of cellular proliferation 7258
      Cysts 284
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 1 2
          megalencephalic leukoencephalopathy with subcortical cysts 2A 1
          megalencephalic leukoencephalopathy with subcortical cysts 2B 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Hereditary Central Nervous System Demyelinating Diseases 74
                  megalencephalic leukoencephalopathy with subcortical cysts 2
                    megalencephalic leukoencephalopathy with subcortical cysts 1 2
                    megalencephalic leukoencephalopathy with subcortical cysts 2A 1
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
paths to the root