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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:transcobalamin II deficiency
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Accession:DOID:0050818 term browser browse the term
Definition:A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO)
Synonyms:exact_synonym: TC II DEFICIENCY;   TCN2 DEFICIENCY
 primary_id: OMIM:275350;   RDO:0008510
 xref: NCI:C142806


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transcobalamin II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transcobalamin II deficiency		 OMIM
CTD
ClinVar		 PMID:2430590 PMID:7849710 PMID:7980584 PMID:9536098 PMID:10518276 More... NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        inherited metabolic disorder 5663
          vitamin metabolic disorder 52
            vitamin B12 deficiency 30
              transcobalamin II deficiency 1
Path 2
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        acquired metabolic disease 2381
          nutrition disease 915
            Malnutrition 331
              nutritional deficiency disease 315
                Avitaminosis 206
                  Vitamin B Deficiency 155
                    vitamin B12 deficiency 30
                      transcobalamin II deficiency 1
paths to the root