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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:hemochromatosis type 2B
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Accession:DOID:0111032 term browser browse the term
Definition:A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: HAMP-RELATED CONDITION;   HFE2B
 primary_id: MESH:C566557
 alt_id: OMIM:613313


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hemochromatosis type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO
IAGP		 OMIM:613313
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 2B		 OMIM
MouseDO
CTD
ClinVar		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        inherited metabolic disorder 5708
          metal metabolism disorder 240
            hemochromatosis 24
              hemochromatosis type 2 6
                hemochromatosis type 2B 1
Path 2
Term Annotations click to browse term
  disease 16106
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        acquired metabolic disease 2328
          mineral metabolism disease 920
            iron metabolism disease 240
              Iron Overload 37
                hemochromatosis 24
                  hemochromatosis type 2 6
                    hemochromatosis type 2B 1
paths to the root