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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 DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency		 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
    physical disorder 4045
      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