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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:Subacute Combined Degeneration
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Accession:DOID:9007110 term browser browse the term
Definition:A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA.
Synonyms:exact_synonym: Subacute Combined Neuropathy Degeneration
 primary_id: MESH:D052879;   RDO:0007600
For additional species annotation, visit the Alliance of Genome Resources.


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Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule treatment IMP
IDA
RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment IEP
IDA
protein:increased expression:cerebrospinal fluid RGD PMID:16716410, PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        neurodegenerative disease 3492
          Subacute Combined Degeneration 2
Path 2
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        acquired metabolic disease 2884
          nutrition disease 915
            Malnutrition 220
              nutritional deficiency disease 211
                Avitaminosis 120
                  Vitamin B Deficiency 70
                    vitamin B12 deficiency 19
                      Subacute Combined Degeneration 2
paths to the root