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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | hereditary hemochromatosis | |
| Synonyms |
hemochromatosis haemochromatosis iron storage disorder diabetes bronze hemochromatosis, hereditary |
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| Definitions |
An inherited metabolic disorder characterized by iron accumulation in the tissues. 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 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0006507 |
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| 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
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| altLabel |
hemochromatosis haemochromatosis iron storage disorder diabetes bronze hemochromatosis, hereditary
|
|
| definition |
An inherited metabolic disorder characterized by iron accumulation in the tissues. 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
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| has_broad_synonym |
hemochromatosis haemochromatosis
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| has_exact_synonym |
iron storage disorder diabetes bronze hemochromatosis, hereditary
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| IAO_0000233 | ||
| label |
hereditary hemochromatosis
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| prefixIRI |
MONDO:0006507
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| prefLabel |
hereditary hemochromatosis
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| relatedMatch | ||
| textual definition |
An inherited metabolic disorder characterized by iron accumulation in the tissues.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004689 |
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