A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/8696333 ]

Synonyms: symptomatic form of hemochromatosis type 1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis HFE1

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:10417
  • MIM:235200
  • ORDO:465508
  • ICD10CM:E83.1
Subsets

DO_rare_slim

acronym
HFE1

has obo namespace

disease_ontology

id

DOID:0111029