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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


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        peripheral nervous system disease 4070
          polyneuropathy 114
            Leukoencephalopathy with Dystonia and Motor Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          brain disease 11564
            movement disease 2563
              Dyskinesias 2179
                dystonia 434
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
paths to the root