Terminology Service for NFDI4Health
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hereditary hemochromatosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0006507

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

Term info

Label

hereditary hemochromatosis

Synonyms
  • diabetes bronze
  • hemochromatosis, hereditary
  • iron storage disorder
database cross reference
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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84481, http://identifiers.org/snomedct/35400008, https://icd.codes/icd10cm/E83.110, http://identifiers.org/mesh/D006432, http://purl.obolibrary.org/obo/DOID_2352, https://omim.org/phenotypicSeries/PS235200

has broad synonym

haemochromatosis, hemochromatosis

id

MONDO:0006507

see also

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