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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
 xref: EFO:1001428



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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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        neurodegenerative disease 4893
          Subacute Combined Degeneration 2
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        acquired metabolic disease 2535
          nutrition disease 1089
            Malnutrition 344
              nutritional deficiency disease 328
                Avitaminosis 218
                  Vitamin B Deficiency 156
                    vitamin B12 deficiency 30
                      Subacute Combined Degeneration 2
paths to the root