PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Hypobetalipoproteinemias

Synonyms
Definitions

A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.

ID

http://www.phoc.org.cn/pmo/class/PMO_00038547

Database_Cross_Reference

MTH:NOCODE

SNM:D-1368

NDFRT:N0000001631

RCDAE:C3252

CSP:1849-5137

MTHICD9:272.5

DO:DOID:1390

SNOMEDCT_US:190786004

MSH:D006995

HPO:HP:0003563

OMIM:MTHU019464

RCD:C3252

Definition

A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.

label

Hypobetalipoproteinemias

MCID

MC00006601

PMOID

PMO:00038547

prefixIRI

pmo:PMO_00038547

prefLabel

Hypobetalipoproteinemias

Synonym

Hypo-beta-lipoproteinemia

Familial Hypobetalipoproteinemia

Hypo-beta-lipoproteinaemia

Hypobetalipoproteinemias [Disease/Finding]

Hypo beta Lipoproteinemia

Hypo beta Lipoproteinemias

Hypobetalipoproteinemia

Hypo-beta-lipoproteinemia (disorder)

hypobetalipoproteinemia

Tree Number

T9.11.1.2.6.2.1

T9.11.1.2.4.1.1

T9.8.4.14.7.2.1

T9.11.1.12.7.2.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038544

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