Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	HEMOJUVELIN BMP CORECEPTOR
Synonyms	HEMOJUVELIN HEMOCHROMATOSIS, TYPE 2A HEMOCHROMATOSIS, HEREDITARY HJV HFE2
ID	http://purl.bioontology.org/ontology/OMIM/608374
altLabel	HEMOJUVELIN HEMOCHROMATOSIS, TYPE 2A HEMOCHROMATOSIS, HEREDITARY HJV HFE2
cui	C1865614 C1415529 C0392514
Gene Locus	1q21
Gene Symbol	HJV HFE2A
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/608374.0007 http://purl.bioontology.org/ontology/OMIM/608374.0006 http://purl.bioontology.org/ontology/OMIM/608374.0002 http://purl.bioontology.org/ontology/OMIM/608374.0005 http://purl.bioontology.org/ontology/OMIM/608374.0009 http://purl.bioontology.org/ontology/OMIM/608374.0004 http://purl.bioontology.org/ontology/OMIM/608374.0001 http://purl.bioontology.org/ontology/OMIM/608374.0003 http://purl.bioontology.org/ontology/OMIM/608374.0008
MIMTYPEMEANING	Gene with known sequence
notation	608374
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	HEMOJUVELIN BMP CORECEPTOR
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537247	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10057874	MDRGER	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://www.orpha.net/ORDO/Orphanet_123414	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_123414	ORDO	LOOM