Term info
- NCIT:C84481 (MONDO:equivalentTo)
- MESH:D006432 (MONDO:equivalentTo)
- DOID:2352 (MONDO:equivalentTo)
- GARD:0010746 (MONDO:equivalentTo)
- EFO:1000642 (MONDO:equivalentTo)
- SCTID:35400008 (MONDO:equivalentTo)
- SCTID:399187006 (MONDO:relatedTo)
- ICD10CM:E83.110 (MONDO:equivalentTo)
- OMIMPS:235200 (MONDO:equivalentTo)
https://github.com/monarch-initiative/mondo/issues/3557
Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052
An inherited metabolic disorder characterized by iron accumulation in the tissues.
http://purl.obolibrary.org/obo/NCIT_C84481, http://identifiers.org/snomedct/35400008, http://identifiers.org/mesh/D006432, http://purl.obolibrary.org/obo/DOID_2352, https://omim.org/phenotypicSeries/PS235200, http://purl.bioontology.org/ontology/ICD10CM/E83.110
haemochromatosis, hemochromatosis
iron storage disorder, hemochromatosis, hereditary, diabetes bronze
MONDO:0006507
http://identifiers.org/snomedct/399187006