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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 null
ClinVar Annotator: match by term: Leukoencephalopathy with dystonia and motor neuropathy
OMIM
ClinVar
PMID:16685654, PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          polyneuropathy 92
            Leukoencephalopathy with Dystonia and Motor Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  Leukoencephalopathy with Dystonia and Motor Neuropathy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.