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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:Cystic Leukoencephalopathy without Megalencephaly
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Accession:DOID:9000690 term browser browse the term
Synonyms:exact_synonym: CYSTIC LEUKOENCEPHALOPATHY
 primary_id: MESH:C567845
 alt_id: OMIM:612951;   RDO:0012062
For additional species annotation, visit the Alliance of Genome Resources.


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Cystic Leukoencephalopathy without Megalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868, PMID:28857146 NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Leukoencephalopathy, cystic, without megalencephaly
ClinVar Annotator: match by OMIM:612951
OMIM
ClinVar
PMID:19525954, PMID:25741868, PMID:28492532 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868, PMID:28857146 NCBI chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      Cysts 266
        Cystic Leukoencephalopathy without Megalencephaly 3
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
            Leukoencephalopathies 455
              Cystic Leukoencephalopathy without Megalencephaly 3
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.