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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 2
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Accession:DOID:0111034 term browser browse the term
Definition:A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. (DO)
Synonyms:exact_synonym: HFE2;   JH;   JHH;   juvenile hemochromatosis
 primary_id: MESH:C537247
 xref: GARD:10092;   ORDO:79230


show annotations for term's descendants           Sort by:
hemochromatosis type 2 term browser
Symbol Object Name 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: Juvenile hemochromatosis 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: Juvenile hemochromatosis		 CTD
ClinVar		 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 More... NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850 		JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name 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
ISS		 ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A
OMIM:602390		 OMIM
ClinVar
MouseDO		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:184,065,944...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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO
ISS		 ClinVar Annotator: match by term: Hemochromatosis type 2B
OMIM:613313
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6608
          metal metabolism disorder 249
            hemochromatosis 24
              hemochromatosis type 2 6
                hemochromatosis type 2A 5
                hemochromatosis type 2B 1
Path 2
Term Annotations click to browse term
  disease 19106
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        acquired metabolic disease 2531
          mineral metabolism disease 958
            iron metabolism disease 249
              Iron Overload 35
                hemochromatosis 24
                  hemochromatosis type 2 6
                    hemochromatosis type 2A 5
                    hemochromatosis type 2B 1
paths to the root