Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	low density lipoprotein receptor
Synonyms	familial hypercholesterolemia LDLCQ2
ID	http://www.orpha.net/ORDO/Orphanet_123021
alternative_term	familial hypercholesterolemia LDLCQ2
hasDbXref	SwissProt:P01130 Genatlas:LDLR Reactome:P01130 Ensembl:ENSG00000130164 OMIM:606945 ClinVar:LDLR HGNC:6547
label	low density lipoprotein receptor
prefixIRI	ORDO:Orphanet_123021
prefLabel	low density lipoprotein receptor
symbol	LDLR
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://doe-generated-ontology.com/OntoAD#C0034821	ONTOAD	LOOM
http://purl.uniprot.org/uniprot/P01130	FTC	LOOM
http://purl.bioontology.org/ontology/CSP/4006-0059	CRISP	LOOM
http://purl.bioontology.org/ontology/OMIM/606945	OMIM	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