Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Familial lipoprotein lipase deficiency

Synonyms

LPL deficiency

ID

http://www.orpha.net/ORDO/Orphanet_309015

alternative_term

LPL deficiency

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015

has_age_of_onset

Childhood

Infancy

hasDbXref

ICD-10:E78.3

ICD-11:5C80.1

OMIM:238600

OMIM:144250

label

Familial lipoprotein lipase deficiency

notation

ORPHA:309015

Etiological subtype

part_of

http://www.orpha.net/ORDO/Orphanet_444490

prefixIRI

ORDO:Orphanet_309015

prefLabel

Familial lipoprotein lipase deficiency

present_in

Europe AND has_point_prevalence_range : 1-9 / 1 000 000

United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_444490

subClassOf

http://www.orpha.net/ORDO/Orphanet_557494

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