Preferred Name

hereditary hemochromatosis

Synonyms

iron storage disorder

diabetes bronze

hemochromatosis, hereditary

hemochromatosis

haemochromatosis

Definitions

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.

ID

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

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

has_broad_synonym

hemochromatosis

haemochromatosis

has_exact_synonym

iron storage disorder

diabetes bronze

hemochromatosis, hereditary

IAO_0000233

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

label

hereditary hemochromatosis

prefixIRI

MONDO:0006507

prefLabel

hereditary hemochromatosis

relatedMatch

http://identifiers.org/snomedct/399187006

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004689

http://purl.obolibrary.org/obo/MONDO_0001436

http://purl.obolibrary.org/obo/MONDO_0017763

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