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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 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 16085
    disease of cellular proliferation 5923
      Cysts 266
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 1 2
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
paths to the root