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GENE - TERM ANNOTATION REPORT

RGD ID: 1310195
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hjv
Name: hemojuvelin BMP co-receptor
Acc ID: DOID:0111034
Term: hemochromatosis type 2
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)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1170/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10205270 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hjv ISOHJV (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hjv ISOHJV (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Juvenile hemochromatosisPMID:25741868 PMID:28492532 PMID:29764732
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