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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:NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
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Accession:DOID:9008349 term browser browse the term
Definition:This disease is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy.
Synonyms:exact_synonym: NSCT
 primary_id: OMIM:620306



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NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc31a1 solute carrier family 31 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration and seizures due to copper transport defect OMIM
ClinVar
PMID:25741868 PMID:35913762 PMID:36562171 NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        neurodegenerative disease 4873
          NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            epilepsy 2798
              NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 1
paths to the root