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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
 alt_id: RDO:0001594
 xref: GARD:3445;   OMIM:PS604004;   ORDO:2478
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by OMIM:604004
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442, PMID:25741868 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
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 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM
PMID:11254442, PMID:11935341, PMID:12189496, PMID:12497630, PMID:12939431, PMID:14572144, PMID:14615938, PMID:15037685, PMID:15367490, PMID:15992519, PMID:16470554, PMID:16652334, PMID:18757878, PMID:19168821, PMID:20301707, PMID:20560255, PMID:21145992, PMID:21160490, PMID:21555057, PMID:21624973, PMID:22006981, PMID:22328087, PMID:22405205, PMID:22416245, PMID:23793458, PMID:23851226, PMID:25497041, PMID:25741868, PMID:25767710, PMID:26349194, PMID:27081509, PMID:27322623, PMID:28492532, PMID:28588848, PMID:30311386 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
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 OMIM:613925
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
OMIM
ClinVar
PMID:21419380, PMID:25741868, PMID:30311386 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
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 or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar Annotator: match by OMIM:613926
OMIM
ClinVar
PMID:20517947, PMID:21419380, PMID:25741868 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      Cysts 266
        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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Hereditary Central Nervous System Demyelinating Diseases 40
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.