Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

hypobetalipoproteinemia

Synonyms

hypo-beta-lipoproteinemia

Definitions

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://purl.obolibrary.org/obo/MONDO_0017774

database_cross_reference

MESH:D006995

icd11.foundation:1934975006

SCTID:190786004

Orphanet:31154

UMLS:C0020597

DOID:1390

GARD:18802

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0020597

http://identifiers.org/snomedct/190786004

http://purl.obolibrary.org/obo/DOID_1390

http://identifiers.org/mesh/D006995

http://purl.obolibrary.org/obo/Orphanet_31154

has_exact_synonym

hypo-beta-lipoproteinemia

id

MONDO:0017774

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

hypobetalipoproteinemia

notation

MONDO:0017774

preferred label

hypobetalipoproteinemia

prefLabel

hypobetalipoproteinemia

subClassOf

http://purl.obolibrary.org/obo/MONDO_0001822

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