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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 OMIM NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        peripheral nervous system disease 2367
          polyneuropathy 83
            Leukoencephalopathy with Dystonia and Motor Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        central nervous system disease 8413
          brain disease 7787
            movement disease 1081
              Dyskinesias 816
                dystonia 155
                  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.