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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
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Accession:DOID:2352 term browser browse the term
Definition:A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (DO)
Synonyms:exact_synonym: Bronze Diabetes;   Familial Hemochromatoses;   Familial Hemochromatosis;   Genetic Hemochromatoses;   Genetic Hemochromatosis;   HEMOCHROMATOSIS, HEREDITARY;   HEMOCHROMATOSIS, JUVENILE, DIGENIC;   HFE;   HH;   Haemochromatoses;   Haemochromatosis;   Hemochromatose;   Hemochromatoses;   Iron Storage Disorder;   Iron Storage Disorders;   Pigmentary Cirrhoses;   Pigmentary Cirrhosis;   Primary Hemochromatosis;   Troisier Hanot Chauffard Syndrome;   bronzed cirrhoses;   bronzed cirrhosis;   von Recklenhausen Applebaum disease
 related_synonym: HFE INTRONIC POLYMORPHISM;   HFE POLYMORPHISM
 primary_id: MESH:D006432
 xref: ICD10CM:E83.11;   NCI:C84481;   OMIM:PS235200;   ORDO:139498
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
RGD
PMID:12915468 PMID:15082576 PMID:15099344 PMID:16574947 PMID:16627556 More... RGD:1599358 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 ISO DNA:missense mutation:cds:p.S65C (human)
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.C282Y (rs1800562) (human)
ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
RGD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207252, RGD:8694372, RGD:8694411, RGD:10755540, RGD:14746965 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 juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
PMID:16457665 PMID:21411349 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 hemochromatosis, type 3, HFE3, OMIM:604250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
RGD
PMID:9536098 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 More... RGD:1599386 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)
CTD
RGD
PMID:16793930 PMID:16793930 PMID:11389006 RGD:12904050, RGD:12904656 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers 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: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 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 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 2:184,065,970...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:22890139 PMID:24055163 PMID:28492532 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar 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 ISO ClinVar Annotator: match by term: Hemochromatosis type 2 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 2A OMIM
ClinVar
PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B OMIM
ClinVar
PMID:12469120 PMID:12915468 PMID:15082576 PMID:15198949 PMID:19214511 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO
IAGP
ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
DNA:missense mutation:cds:Ala679Gly (rat)
OMIM
ClinVar
RGD
PMID:10802645 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 More... RGD:150520058 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 4 OMIM
ClinVar
PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12873829 More... NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 PMID:28492532 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 OMIM
ClinVar
PMID:11389486 PMID:14615048 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ClinVar
OMIM
PMID:24259288 PMID:34875027 NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          metal metabolism disorder 138
            hemochromatosis 22
              African iron overload 0
              NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS 1
              Neonatal Hemochromatosis 0
              hemochromatosis type 1 6
              hemochromatosis type 2 + 6
              hemochromatosis type 3 1
              hemochromatosis type 4 1
              hemochromatosis type 5 3
Path 2
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        acquired metabolic disease 2146
          mineral metabolism disease 722
            iron metabolism disease 197
              Iron Overload 33
                hemochromatosis 22
                  African iron overload 0
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS 1
                  Neonatal Hemochromatosis 0
                  hemochromatosis type 1 6
                  hemochromatosis type 2 + 6
                  hemochromatosis type 3 1
                  hemochromatosis type 4 1
                  hemochromatosis type 5 3
paths to the root