Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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 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 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 16085
    disease of cellular proliferation 5923
      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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                Hereditary Central Nervous System Demyelinating Diseases 42
                  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