Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/235200
http://purl.bioontology.org/ontology/OMIM/235200
Preferred Name

HEMOCHROMATOSIS, TYPE 1
Synonyms
HFE1
HEMOCHROMATOSIS
HFE
HEMOCHROMATOSIS, HEREDITARY
HH
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HFE1
HEMOCHROMATOSIS
HFE
HEMOCHROMATOSIS, HEREDITARY
HH
prefLabel
HEMOCHROMATOSIS, TYPE 1
Gene Symbol
HFE1
HLA-H
HFE
notation
235200
Scope Statement
Caused by mutation in the hereditary hemochromatosis gene (HFE, 613609.0001) [MOLECULAR BASIS]
Affects between 1 in 200 to 1 in 400 individuals of northern European descent [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012512
http://purl.bioontology.org/ontology/OMIM/MTHU036686
http://purl.bioontology.org/ontology/OMIM/MTHU012517
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU020724
http://purl.bioontology.org/ontology/OMIM/MTHU036407
http://purl.bioontology.org/ontology/OMIM/MTHU012520
http://purl.bioontology.org/ontology/OMIM/MTHU001136
http://purl.bioontology.org/ontology/OMIM/MTHU036393
http://purl.bioontology.org/ontology/OMIM/MTHU036798
http://purl.bioontology.org/ontology/OMIM/MTHU036362
http://purl.bioontology.org/ontology/OMIM/MTHU012522
http://purl.bioontology.org/ontology/OMIM/MTHU012516
http://purl.bioontology.org/ontology/OMIM/MTHU037275
http://purl.bioontology.org/ontology/OMIM/MTHU002521
http://purl.bioontology.org/ontology/OMIM/MTHU002380
http://purl.bioontology.org/ontology/OMIM/MTHU008398
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU005753
http://purl.bioontology.org/ontology/OMIM/MTHU012513
http://purl.bioontology.org/ontology/OMIM/MTHU004860
http://purl.bioontology.org/ontology/OMIM/MTHU002081
http://purl.bioontology.org/ontology/OMIM/MTHU012521
http://purl.bioontology.org/ontology/OMIM/MTHU012515
http://purl.bioontology.org/ontology/OMIM/MTHU037219
http://purl.bioontology.org/ontology/OMIM/MTHU012766
http://purl.bioontology.org/ontology/OMIM/MTHU004823
http://purl.bioontology.org/ontology/OMIM/MTHU008946
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
6p22.2
tui
T047
cui
C3469186
C0392514
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