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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:congenital intrinsic factor deficiency
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Accession:DOID:0050734 term browser browse the term
Definition:A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO)
Synonyms:exact_synonym: IFD;   congenital pernicious anemia, due to defect of intrinsic factor;   hereditary intrinsic factor deficiency;   intrinsic factor deficiency
 primary_id: MESH:C563242
 alt_id: OMIM:261000
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
ClinVar Annotator: match by term: Intrinsic factor deficiency		 OMIM
ClinVar		 PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25741868 PMID:27577878 PMID:28492532, PMID:14695536 RGD:11049582 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital intrinsic factor deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        acquired metabolic disease 2795
          nutrition disease 903
            Malnutrition 207
              nutritional deficiency disease 198
                Avitaminosis 120
                  Vitamin B Deficiency 71
                    vitamin B12 deficiency 20
                      pernicious anemia 1
                        congenital intrinsic factor deficiency 1
paths to the root