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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 characterized 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;   MIM:612951
 xref: GARD:13199;   ORDO:85136


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly		 OMIM
CTD
ClinVar		 PMID:19525954 PMID:25741868 PMID:27943079 PMID:28492532 PMID:28924877 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 19055
    disease of cellular proliferation 7785
      Cysts 300
        RNASET2-deficient cystic leukoencephalopathy 3
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          monogenic disease 10700
            autosomal genetic disease 9872
              autosomal recessive disease 6893
                RNASET2-deficient cystic leukoencephalopathy 3
paths to the root