Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Hypobetalipoproteinemia

Synonyms
Definitions

Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.

ID

http://www.orpha.net/ORDO/Orphanet_31154

definition

Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=31154

hasDbXref

ICD-11:5C81.1

UMLS:C0020597

MeSH:D006995

label

Hypobetalipoproteinemia

notation

ORPHA:31154

Clinical group

prefixIRI

ORDO:Orphanet_31154

prefLabel

Hypobetalipoproteinemia

subClassOf

http://www.orpha.net/ORDO/Orphanet_181431

http://www.orpha.net/ORDO/Orphanet_557492

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