Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:13381 term browser browse the term
Definition:A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
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: GARD:12671;   ICD10CM:D51.0;   ICD9CM:281.0;   NCI:C2871
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:4434116 PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      nutrition disease 1037
        Malnutrition 308
          nutritional deficiency disease 299
            pernicious anemia 1
              congenital intrinsic factor deficiency 1
Path 2
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        acquired metabolic disease 2138
          nutrition disease 1037
            Malnutrition 308
              nutritional deficiency disease 299
                Avitaminosis 195
                  Vitamin B Deficiency 140
                    vitamin B12 deficiency 27
                      pernicious anemia 1
                        congenital intrinsic factor deficiency 1
paths to the root