Terminology Service for NFDI4Health
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hereditary hemochromatosis type 1

Go to external page http://www.ebi.ac.uk/efo/EFO_0006513

Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease [ https://github.com/EBISPOT/efo/issues/58 ]

Term info

Label

hereditary hemochromatosis type 1

Synonyms
  • C282Y/C282Y hemochromatosis
  • HFE-associated Hereditary hemochromatosis
  • HFE-associated hereditary hemochromatosis
  • HFE-related hemochromatosis
  • HFE1
  • classic hemochromatosis
  • hemochromatosis
  • hemochromatosis type 1
  • hemochromatosis, type 1
  • hereditary hemochromatosis
  • hfe hemochromatosis, modifier of
  • symptomatic form of HFE-related hereditary hemochromatosis
  • symptomatic form of classic hemochromatosis
  • symptomatic form of hemochromatosis type 1
database cross reference
Subsets

ordo_disease

exactMatch

http://linkedlifedata.com/resource/umls/id/CN242134, http://purl.obolibrary.org/obo/NCIT_C84764, https://omim.org/entry/235200, http://purl.obolibrary.org/obo/Orphanet_139498, http://purl.obolibrary.org/obo/DOID_0111029

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016363

gwas trait

true

id

EFO:0006513

see also

https://github.com/monarch-initiative/mondo/issues/4521