Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	LOW DENSITY LIPOPROTEIN RECEPTOR
Synonyms	FH BARI FH NAPLES FH PYRGOS FH DENVER 2 FH ITALY 1 FH NORTH KARELIA FH LEBANESE FH BALTIMORE-1 FH POTENZA FH OSAKA 2 FH AFRIKANER 4 FH MAINE HYPERCHOLESTEROLEMIA, FAMILIAL, 1 FH FRENCH CANADIAN 3 FH LEIDEN 2 FH PISCATAWAY FH LONDON 2 FH AFRIKANER 1 FH ALGERIA FH PAVIA FH TURKEY FH TSUKUBA 1 FH TSUKUBA 2 FH VANCOUVER 2 FH FRENCH CANADIAN 4 FH ROCHESTER FH TONAMI 2 FH PARIS 1 FH LONDON 1 FH AFRIKANER 3 FH VANCOUVER 6 FH LEUVEN FH AARHUS FH CAPE TOWN 1 FH PARIS 3 FH BOLOGNA 2 FH LONDON 4 FH ST. LOUIS FH VANCOUVER 5 FH FRENCH CANADIAN 1 FH AFRIKANER 2 FH DRUZE FH TONAMI 1 FH KUWAIT FH LEIDEN 1 FH SYRIA FH ELVERUM FH BAHRAIN FH LITHUANIA FH REYKJAVIK FH SAINT OMER FH PUERTO RICO FH MEXICO FH OSAKA 3 FH VANCOUVER 4 FH OSAKA 1 FH FRENCH CANADIAN 2 FH GENOA FH NASHVILLE FH VANCOUVER 1 FH GLASCO FH PARIS 2 FH TURKU FH FRENCH CANADIAN 5 FH ZAMBIA FH VANCOUVER 3 FH PORTUGAL FH HELSINKI LDLR FH CAPE TOWN 2 FH LONDON 3 FH PORI FH DENVER FH ICELAND
ID	http://purl.bioontology.org/ontology/OMIM/606945
altLabel	FH BARI FH NAPLES FH PYRGOS FH DENVER 2 FH ITALY 1 FH NORTH KARELIA FH LEBANESE FH BALTIMORE-1 FH POTENZA FH OSAKA 2 FH AFRIKANER 4 FH MAINE HYPERCHOLESTEROLEMIA, FAMILIAL, 1 FH FRENCH CANADIAN 3 FH LEIDEN 2 FH PISCATAWAY FH LONDON 2 FH AFRIKANER 1 FH ALGERIA FH PAVIA FH TURKEY FH TSUKUBA 1 FH TSUKUBA 2 FH VANCOUVER 2 FH FRENCH CANADIAN 4 FH ROCHESTER FH TONAMI 2 FH PARIS 1 FH LONDON 1 FH AFRIKANER 3 FH VANCOUVER 6 FH LEUVEN FH AARHUS FH CAPE TOWN 1 FH PARIS 3 FH BOLOGNA 2 FH LONDON 4 FH ST. LOUIS FH VANCOUVER 5 FH FRENCH CANADIAN 1 FH AFRIKANER 2 FH DRUZE FH TONAMI 1 FH KUWAIT FH LEIDEN 1 FH SYRIA FH ELVERUM FH BAHRAIN FH LITHUANIA FH REYKJAVIK FH SAINT OMER FH PUERTO RICO FH MEXICO FH OSAKA 3 FH VANCOUVER 4 FH OSAKA 1 FH FRENCH CANADIAN 2 FH GENOA FH NASHVILLE FH VANCOUVER 1 FH GLASCO FH PARIS 2 FH TURKU FH FRENCH CANADIAN 5 FH ZAMBIA FH VANCOUVER 3 FH PORTUGAL FH HELSINKI LDLR FH CAPE TOWN 2 FH LONDON 3 FH PORI FH DENVER FH ICELAND
cui	C4540576 C4016998 C4017642 C4017034 C1366529 C4017046 C4017008 C4017039 C4017639 C4017027 C4017835 C4017038 C4017638 C4017042 C4017002 C4017644 C4017037 C4017020 C4017043 C4017005 C4017032 C4017012 C4017029 C4017041 C4017022 C4017035 C4017031 C4016997 C4017023 C4017026 C4017017 C4017834 C4017045 C4017019 C4017006 C4017047 C4017036 C4017635 C4017841 C4017028 C4310885 C4017634 C4017003 C4017025 C4017009 C4017030 C4017000 C4017016 C4540601 C4017024 C4017044 C4017010 C4016996 C4017001 C4017643 C4016995 C4017018 C4017641 C4016999 C4017013 C4017014 C4017637 C4017015 C4017021 C0745103 C4017040 C4017004 C4017645 C4017011 C4017636 C4017007 C4017640 C4017797 C4310886
Gene Locus	19p13.2
Gene Symbol	FHC FH LDLR FHCL1 LDLCQ2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606945.0054 http://purl.bioontology.org/ontology/OMIM/606945.0051 http://purl.bioontology.org/ontology/OMIM/606945.0050 http://purl.bioontology.org/ontology/OMIM/606945.0056 http://purl.bioontology.org/ontology/OMIM/606945.0053 http://purl.bioontology.org/ontology/OMIM/606945.0059 http://purl.bioontology.org/ontology/OMIM/606945.0052 http://purl.bioontology.org/ontology/OMIM/606945.0058 http://purl.bioontology.org/ontology/OMIM/606945.0055 http://purl.bioontology.org/ontology/OMIM/606945.0027 http://purl.bioontology.org/ontology/OMIM/606945.0028 http://purl.bioontology.org/ontology/OMIM/606945.0020 http://purl.bioontology.org/ontology/OMIM/606945.0029 http://purl.bioontology.org/ontology/OMIM/606945.0021 http://purl.bioontology.org/ontology/OMIM/606945.0026 http://purl.bioontology.org/ontology/OMIM/606945.0025 http://purl.bioontology.org/ontology/OMIM/606945.0023 http://purl.bioontology.org/ontology/OMIM/606945.0024 http://purl.bioontology.org/ontology/OMIM/606945.0022 http://purl.bioontology.org/ontology/OMIM/606945.0043 http://purl.bioontology.org/ontology/OMIM/606945.0045 http://purl.bioontology.org/ontology/OMIM/606945.0046 http://purl.bioontology.org/ontology/OMIM/606945.0040 http://purl.bioontology.org/ontology/OMIM/606945.0044 http://purl.bioontology.org/ontology/OMIM/606945.0047 http://purl.bioontology.org/ontology/OMIM/606945.0049 http://purl.bioontology.org/ontology/OMIM/606945.0048 http://purl.bioontology.org/ontology/OMIM/606945.0041 http://purl.bioontology.org/ontology/OMIM/606945.0042 http://purl.bioontology.org/ontology/OMIM/606945.0013 http://purl.bioontology.org/ontology/OMIM/606945.0014 http://purl.bioontology.org/ontology/OMIM/606945.0011 http://purl.bioontology.org/ontology/OMIM/606945.0010 http://purl.bioontology.org/ontology/OMIM/606945.0019 http://purl.bioontology.org/ontology/OMIM/606945.0015 http://purl.bioontology.org/ontology/OMIM/606945.0018 http://purl.bioontology.org/ontology/OMIM/606945.0012 http://purl.bioontology.org/ontology/OMIM/606945.0016 http://purl.bioontology.org/ontology/OMIM/606945.0017 http://purl.bioontology.org/ontology/OMIM/606945.0005 http://purl.bioontology.org/ontology/OMIM/606945.0004 http://purl.bioontology.org/ontology/OMIM/606945.0003 http://purl.bioontology.org/ontology/OMIM/606945.0009 http://purl.bioontology.org/ontology/OMIM/606945.0002 http://purl.bioontology.org/ontology/OMIM/606945.0008 http://purl.bioontology.org/ontology/OMIM/606945.0001 http://purl.bioontology.org/ontology/OMIM/606945.0007 http://purl.bioontology.org/ontology/OMIM/606945.0006 http://purl.bioontology.org/ontology/OMIM/606945.0039 http://purl.bioontology.org/ontology/OMIM/606945.0034 http://purl.bioontology.org/ontology/OMIM/606945.0037 http://purl.bioontology.org/ontology/OMIM/606945.0032 http://purl.bioontology.org/ontology/OMIM/606945.0035 http://purl.bioontology.org/ontology/OMIM/606945.0031 http://purl.bioontology.org/ontology/OMIM/606945.0036 http://purl.bioontology.org/ontology/OMIM/606945.0038 http://purl.bioontology.org/ontology/OMIM/606945.0033 http://purl.bioontology.org/ontology/OMIM/606945.0030 http://purl.bioontology.org/ontology/OMIM/606945.0067 http://purl.bioontology.org/ontology/OMIM/606945.0063 http://purl.bioontology.org/ontology/OMIM/606945.0066 http://purl.bioontology.org/ontology/OMIM/606945.0065 http://purl.bioontology.org/ontology/OMIM/606945.0062 http://purl.bioontology.org/ontology/OMIM/606945.0060 http://purl.bioontology.org/ontology/OMIM/606945.0064 http://purl.bioontology.org/ontology/OMIM/606945.0061
MIMTYPEMEANING	Gene with known sequence
notation	606945
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	LOW DENSITY LIPOPROTEIN RECEPTOR
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/441665004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10017344	MDRGER	CUI
http://purl.bioontology.org/ontology/LNC/LP95532-5	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/441665004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10017343	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10060597	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10060596	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10064614	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10017342	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10064707	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10060595	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10045262	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10045261	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060596	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10064614	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10045262	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/397915002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10017344	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D006938	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10045262	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10017343	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10017344	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10064707	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060595	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10064707	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10064614	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060597	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10017342	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060596	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/397915002	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10017342	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10045261	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10045261	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006938	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060595	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060597	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/C3200	RCD	CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.00	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10017343	MEDDRA	CUI
http://doe-generated-ontology.com/OntoAD#C0034821	ONTOAD	LOOM
http://www.orpha.net/ORDO/Orphanet_123021	ORDO	LOOM
http://purl.uniprot.org/uniprot/P01130	FTC	LOOM
http://purl.bioontology.org/ontology/CSP/4006-0059	CRISP	LOOM
http://www.orpha.net/ORDO/Orphanet_123021	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17074	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C17074	BERO	LOOM
http://purl.obolibrary.org/obo/PR_000009744	PR	LOOM
http://purl.obolibrary.org/obo/PR_000009744	NIFSTD	LOOM
http://www.co-ode.org/ontologies/galen#LowDensityLipoproteinReceptor	GALEN	LOOM
http://purl.obolibrary.org/obo/dinto_0236	DINTO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10620	OCHV	LOOM