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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 1
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Accession:DOID:0080316 term browser browse the term
Definition:A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13. (DO)
Synonyms:exact_synonym: MLC1;   Van Der Knaap disease
 primary_id: OMIM:604004
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of cellular proliferation 5913
      Cysts 266
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 1 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.