Mondo Disease Ontology - Glanzmann thrombasthenia 1 - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0031332 http://purl.obolibrary.org/obo/MONDO_0031332
Preferred Name	Glanzmann thrombasthenia 1
Definitions	A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
Synonyms	Diacyclothrombopathia 2B 3A bleeding disorder, Platelet-type, 2 Platelet fibrinogen receptor, deficiency of GT Platelet glycoprotein IIb-IIIa deficiency glycoprotein Complex IIb-IIIa, deficiency of deficiency of GP 2B 3A complex GP IIb-IIIa Complex, deficiency of Glanzmann thrombasthenia type A Platelet glycoprotein 2B 3A deficiency Glanzmann's thrombasthenia Glanzmann thrombasthenia deficiency of glycoprotein complex IIb-IIIa Thrombocytasthenia deficiency of platelet fibrinogen receptor thrombasthenia of Glanzmann and Naegeli BDPLT2 platelet glycoprotein IIb-IIIa deficiency glycoprotein IIb/IIIa defect thrombasthenia Glanzmann thrombasthenia 1 platelet-type bleeding disorder 2 deficiency of GP IIb-IIIa complex See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
label	Glanzmann thrombasthenia 1
prefLabel	Glanzmann thrombasthenia 1
database_cross_reference	GARD:15240 SCTID:32942005 OMIM:273800 MESH:D013915 NCIT:C61249 DOID:2219 See more See less
notation	MONDO:0031332
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
has_related_synonym	Diacyclothrombopathia 2B 3A bleeding disorder, Platelet-type, 2 Platelet fibrinogen receptor, deficiency of GT Platelet glycoprotein IIb-IIIa deficiency glycoprotein Complex IIb-IIIa, deficiency of deficiency of GP 2B 3A complex GP IIb-IIIa Complex, deficiency of Glanzmann thrombasthenia type A Platelet glycoprotein 2B 3A deficiency See more See less
id	MONDO:0031332
skos_exactMatch	https://omim.org/entry/273800 http://identifiers.org/snomedct/32942005 http://purl.obolibrary.org/obo/DOID_2219 http://identifiers.org/mesh/D013915 http://purl.obolibrary.org/obo/NCIT_C61249
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100326
type	http://www.w3.org/2002/07/owl#Class
has_broad_synonym	Glanzmann's thrombasthenia Glanzmann thrombasthenia
has_exact_synonym	deficiency of glycoprotein complex IIb-IIIa Thrombocytasthenia deficiency of platelet fibrinogen receptor thrombasthenia of Glanzmann and Naegeli BDPLT2 platelet glycoprotein IIb-IIIa deficiency glycoprotein IIb/IIIa defect thrombasthenia Glanzmann thrombasthenia 1 platelet-type bleeding disorder 2 deficiency of GP IIb-IIIa complex See more See less
treeView	http://purl.obolibrary.org/obo/MONDO_0100326

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