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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:pernicious anemia
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Accession:DOID:13381 term browser browse the term
Definition:A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. (DO)
Synonyms:exact_synonym: Addison anemia;   Addison's anaemia;   Addison's anemia;   Addisons anemia;   Biermer's anaemia;   Biermer's anemia;   pernicious anaemia
 primary_id: MESH:D000752
 alt_id: OMIM:170900
 xref: EFO:0005576;   GARD:12671;   ICD10CM:D51.0;   ICD9CM:281.0;   NCI:C2871
For additional species annotation, visit the Alliance of Genome Resources.

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pernicious anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:167441 PMID:4434116 RGD:11049584 RGD:11049587 NCBI chrNW_004955511:4,234,470...4,251,583
Ensembl chrNW_004955511:4,231,466...4,251,975 		JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... NCBI chrNW_004955511:4,234,470...4,251,583
Ensembl chrNW_004955511:4,231,466...4,251,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6696
      disease of metabolism 6696
        inherited metabolic disorder 5144
          vitamin metabolic disorder 49
            vitamin B12 deficiency 30
              pernicious anemia 1
                congenital intrinsic factor deficiency 1
Path 2
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6696
      disease of metabolism 6696
        acquired metabolic disease 2115
          nutrition disease 824
            Malnutrition 302
              nutritional deficiency disease 286
                Avitaminosis 187
                  Vitamin B Deficiency 141
                    vitamin B12 deficiency 30
                      pernicious anemia 1
                        congenital intrinsic factor deficiency 1
paths to the root