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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:Leukoencephalopathy with Ataxia
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Accession:DOID:9008250 term browser browse the term
Synonyms:exact_synonym: LKPAT
 primary_id: OMIM:615651;   RDO:9001025
 xref: NCI:C171603


show annotations for term's descendants           Sort by:
Leukoencephalopathy with Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Leukoencephalopathy with ataxia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 More... NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650 		JBrowse link
G LOC129938055 ATAC-STARR-seq lymphoblastoid silent region 14964 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with ataxia ClinVar PMID:25741868 PMID:32173090 NCBI chr 3:184,361,380...184,361,969 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        central nervous system disease 23611
          brain disease 22049
            Leukoencephalopathies 653
              Leukoencephalopathy with Ataxia 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        central nervous system disease 23611
          brain disease 22049
            movement disease 3287
              Dyskinesias 2694
                Ataxia 1304
                  Leukoencephalopathy with Ataxia 2
paths to the root