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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:Imerslund-Grasbeck Syndrome 2
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Accession:DOID:9007240 term browser browse the term
Synonyms:exact_synonym: IGS2;   MGA1 Norwegian type;   megaloblastic anemia, Norwegian type;   megaloblastic anemia-1, Norwegian type
 narrow_synonym: Intestinal cobalamin malabsorption due to AMN mutation;   Intestinal cobalamin malabsorption, AMN-related
 primary_id: OMIM:618882


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Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type		 OMIM
ClinVar
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Malabsorption Syndromes 214
        Imerslund-Grasbeck Syndrome 12
          Imerslund-Grasbeck Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          nutrition disease 1089
            Malnutrition 344
              nutritional deficiency disease 328
                Avitaminosis 218
                  Vitamin B Deficiency 156
                    vitamin B12 deficiency 30
                      Imerslund-Grasbeck Syndrome 12
                        Imerslund-Grasbeck Syndrome 2 2
paths to the root