JSON

hereditary hemochromatosis

^ http://purl.obolibrary.org/obo/MONDO_0006507

An inherited metabolic disorder characterized by iron accumulation in the tissues. [ NCIT:P378 ]

Term info

database cross reference
  • DOID:2352 (MONDO:equivalentTo)
  • ICD10CM:E83.110 (MONDO:equivalentTo)
  • MESH:D006432 (MONDO:equivalentTo)
  • SCTID:399187006 (MONDO:relatedTo)
  • OMIMPS:235200 (MONDO:equivalentTo)
  • EFO:1000642 (MONDO:equivalentTo)
  • NCIT:C84481 (MONDO:equivalentTo)
  • SCTID:35400008 (MONDO:equivalentTo)
  • GARD:0010746 (MONDO:equivalentTo)
IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3557

comment

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

definition

An inherited metabolic disorder characterized by iron accumulation in the tissues.

exactMatch

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

has broad synonym

haemochromatosis, hemochromatosis

has exact synonym

iron storage disorder, hemochromatosis, hereditary, diabetes bronze

id

MONDO:0006507

relatedMatch

http://identifiers.org/snomedct/399187006