Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

HYPERLIPOPROTEINEMIA, TYPE I
Synonyms

HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE
ID

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

HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE

LPL DEFICIENCY

LIPASE D DEFICIENCY

HYPERLIPOPROTEINEMIA, TYPE IA

LIPOPROTEIN LIPASE DEFICIENCY

HYPERLIPEMIA, ESSENTIAL FAMILIAL

CHYLOMICRONEMIA, FAMILIAL

LIPD DEFICIENCY

HYPERCHYLOMICRONEMIA, FAMILIAL
cui

C0023817
Gene Locus

8p22
Gene Symbol

LPL

LIPD

HDLCQ11
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

238600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPERLIPOPROTEINEMIA, TYPE I
tui

T047
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http://purl.bioontology.org/ontology/ICD10/E78.3 International Classification of Diseases, Version 10 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84771 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D008072 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D008072 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E78.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/E78.3 International Classification of Diseases, 10th Edition, China CUI