Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Abetalipoproteinemia

Definitions

Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. An absence of low-density lipoprotein cholesterol in the blood.

ID

http://purl.obolibrary.org/obo/HP_0008181

comment

Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.

database_cross_reference

MSH:D000012

UMLS:C0000744

SNOMEDCT_US:190787008

definition

An absence of low-density lipoprotein cholesterol in the blood.

has_obo_namespace

human_phenotype

id

HP:0008181

label

Abetalipoproteinemia

notation

HP:0008181

prefLabel

Abetalipoproteinemia

treeView

http://purl.obolibrary.org/obo/HP_0003563

subClassOf

http://purl.obolibrary.org/obo/HP_0003563

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84525 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_1386 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014871 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/200100 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/D000012 Medical Subject Headings LOOM