Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HEMOCHROMATOSIS, TYPE 1
Synonyms

HFE1

HEMOCHROMATOSIS

HFE

HEMOCHROMATOSIS, HEREDITARY

HH
ID

http://purl.bioontology.org/ontology/OMIM/235200
altLabel

HFE1

HEMOCHROMATOSIS

HFE

HEMOCHROMATOSIS, HEREDITARY

HH
cui

C3469186

C0392514
Gene Locus

6p21.3
Gene Symbol

HFE1

HLA-H

HFE

TFQTL2

MVCD7
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

235200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HEMOCHROMATOSIS, TYPE 1
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/1186847009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10057874 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1186847009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10057873 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/E83.110 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10057873 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D006432 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10057874 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/275.01 ICD9CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/399053004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10057873 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/399053004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/35400008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/399170009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-31212 SNMI CUI
http://purl.bioontology.org/ontology/RCD/C3500 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10057874 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/35400008 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1849-4292 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/399170009 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_0111029 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0021001 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_16910 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0111029 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111029 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111029 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111029 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1186847009 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0021001 DOVES LOOM