National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Hyperlipoproteinemia, Type I
Synonyms	Lipoprotein Lipase Deficiency Hyperlipoproteinemia, Type I Hyperlipoproteinemia Type 1A Familial Essential Hyperlipemia Familial Hyperchylomicronemia
Definitions	A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84771
code	C84771
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source	Cellosaurus
DEFINITION	A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.
FULL_SYN	Lipoprotein Lipase Deficiency Hyperlipoproteinemia, Type I Hyperlipoproteinemia Type 1A Familial Essential Hyperlipemia Familial Hyperchylomicronemia
label	Hyperlipoproteinemia, Type I
Preferred_Name	Hyperlipoproteinemia, Type I
prefixIRI	Thesaurus:C84771
Related_To_Genetic_Biomarker	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104614 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190082
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0023817
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34709 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C84771	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0009155	OMIT	LOOM
http://purl.bioontology.org/ontology/MESH/D008072	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/275598004	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008072	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/STO.owl#b52086a3_8929_4f3b_a866_6df368dadbc6	STO-DRAFT	LOOM
http://www.semanticweb.org/ontologies/STO.owl#b52086a3_8929_4f3b_a866_6df368dadbc6	CVAO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.465	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.500.500.644.237	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hyperlipoproteinemia_Type_I	CSEO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.465	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038552	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/OMIM/238600	OMIM	LOOM
http://purl.jp/bio/4/id/200906088105070544	IOBC	LOOM