Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HYPERLIPOPROTEINEMIA, TYPE I
Synonyms

HYPERCHYLOMICRONEMIA, FAMILIAL
ID

http://purl.bioontology.org/ontology/OMIM/238600
altLabel

HYPERCHYLOMICRONEMIA, FAMILIAL

HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11

HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE

LIPASE D DEFICIENCY

HDLCQ11

HYPERLIPOPROTEINEMIA, TYPE IA

LIPD DEFICIENCY

HYPERLIPEMIA, ESSENTIAL FAMILIAL

LIPOPROTEIN LIPASE DEFICIENCY

LPL DEFICIENCY

CHYLOMICRONEMIA, FAMILIAL
cui

C1969232

C0023817
Gene Locus

8p22
Gene Symbol

LIPD

HDLCQ11

LPL
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

238600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPERLIPOPROTEINEMIA, TYPE I
tui

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10084113 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10064705 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10064612 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10084113 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10064612 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D008072 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10064705 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/275598004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-4577 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D6-60400 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10084113 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.3 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10064705 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/275598004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10064612 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/E78.3 ICD10 CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001857 NDFRT CUI
http://purl.bioontology.org/ontology/ICD9CM/272.3 ICD9CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/267435002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/403827000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/XE11V RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D008072 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/403827000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40XD RCD CUI
http://purl.bioontology.org/ontology/RCD/X40Vh RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/267435002 SCTSPA CUI
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84771 NCIT LOOM
http://purl.jp/bio/4/id/200906088105070544 IOBC LOOM