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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 1
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Accession:DOID:0111029 term browser browse the term
Definition:A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: HFE1;   hereditary hemochromatosis type 1;   symptomatic form of HFE-related hereditary hemochromatosis;   symptomatic form of classic hemochromatosis;   symptomatic form of hemochromatosis type 1
 related_synonym: hemochromatosis type 1, modifier of
 primary_id: OMIM:235200
 xref: EFO:0006513;   GARD:10417;   ORDO:465508


show annotations for term's descendants           Sort by:
hemochromatosis type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hfe homeostatic iron regulator ISS
ISO		 OMIM:235200
ClinVar Annotator: match by term: Hemochromatosis type 1		 MouseDO
OMIM
ClinVar		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481 		JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of ClinVar PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More... NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          metal metabolism disorder 243
            hemochromatosis 24
              hemochromatosis type 1 6
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          mineral metabolism disease 919
            iron metabolism disease 236
              Iron Overload 35
                hemochromatosis 24
                  hemochromatosis type 1 6
paths to the root