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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:RNASET2-deficient cystic leukoencephalopathy
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Accession:DOID:0081007 term browser browse the term
Definition:A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. (DO)
Synonyms:exact_synonym: Cystic Leukoencephalopathy;   Cystic Leukoencephalopathy without Megalencephaly;   infantile-onset RNASET2 deficient cystic leukoencephalopathy
 primary_id: MESH:C567845
 alt_id: DOID:9000690;   OMIM:612951
 xref: GARD:13199;   ORDO:85136
For additional species annotation, visit the Alliance of Genome Resources.



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RNASET2-deficient cystic leukoencephalopathy 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:27159321 PMID:28857146 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly OMIM
ClinVar
PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of cellular proliferation 7339
      Cysts 284
        RNASET2-deficient cystic leukoencephalopathy 3
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                RNASET2-deficient cystic leukoencephalopathy 3
paths to the root