Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hypoplasminogenemia

Synonyms

Plasminogen deficiency type 1

Definitions

A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.

ID

http://www.orpha.net/ORDO/Orphanet_722

alternative_term

Plasminogen deficiency type 1

definition

A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:DA0D.3

ICD-10:L90.5

OMIM:217090

UMLS:C0398621

label

Hypoplasminogenemia

notation

ORPHA:722

part_of

http://www.orpha.net/ORDO/Orphanet_522542

http://www.orpha.net/ORDO/Orphanet_182222

http://www.orpha.net/ORDO/Orphanet_271870

http://www.orpha.net/ORDO/Orphanet_98610

prefixIRI

ORDO:Orphanet_722

prefLabel

Hypoplasminogenemia

present_in

Europe AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_522542

http://www.orpha.net/ORDO/Orphanet_182222

http://www.orpha.net/ORDO/Orphanet_271870

http://www.orpha.net/ORDO/Orphanet_98610

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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