Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Glanzmann thrombasthenia
Synonyms
Definitions

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

ID

http://www.orpha.net/ORDO/Orphanet_849

definition

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=849

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:3B62.0Y

ICD-10:D69.1

OMIM:619267

UMLS:C0040015

OMIM:273800

label

Glanzmann thrombasthenia

notation

ORPHA:849

part_of

http://www.orpha.net/ORDO/Orphanet_275736

prefixIRI

ORDO:Orphanet_849

prefLabel

Glanzmann thrombasthenia

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_275736

subClassOf

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

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

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