Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Familial apolipoprotein C-II deficiency
Synonyms

Familial apoC-II deficiency

Familial APOC2 deficiency

ID

http://www.orpha.net/ORDO/Orphanet_309020

alternative_term

Familial apoC-II deficiency

Familial APOC2 deficiency

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=309020

has_age_of_onset

Adolescent

Childhood

has_inheritance

Autosomal recessive

hasDbXref

UMLS:C0268199

ICD-10:E78.3

OMIM:207750

ICD-11:5C80.1

label

Familial apolipoprotein C-II deficiency

notation

ORPHA:309020

Etiological subtype

part_of

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

prefixIRI

ORDO:Orphanet_309020

prefLabel

Familial apolipoprotein C-II deficiency

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 10.0 (Family)

treeView

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

subClassOf

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

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