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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 Dystonia and Motor Neuropathy
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Accession:DOID:9004065 term browser browse the term
Synonyms:exact_synonym: LKDMN;   Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient;   STEROL CARRIER PROTEIN 2 DEFICIENCY
 primary_id: MESH:C566654
 alt_id: OMIM:613724;   RDO:0009956;   RDO:0014956
For additional species annotation, visit the Alliance of Genome Resources.



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Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency OMIM
ClinVar
PMID:16199547 PMID:16685654 PMID:25741868 PMID:26497993 PMID:28492532 More... NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          polyneuropathy 111
            Leukoencephalopathy with Dystonia and Motor Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                dystonia 269
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
paths to the root