About: Glanzmann's thrombasthenia

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	blood platelet disease nodeID://b50950619
label	Glanzmann's thrombasthenia
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2219
database_cross_reference	ICD10CM:D69.1 GARD:2478 MESH:D013915 NCI:C61249 OMIM:273800 ORDO:849 SNOMEDCT_US_2021_09_01:32942005 UMLS_CUI:C0040015
has_exact_synonym	BDPLT2 (en) Glanzmann thrombasthenia (en) Glycoprotein IIb/IIIa defect (en) Thrombocytasthenia (en) deficiency of GP IIb-IIIa complex (en) deficiency of glycoprotein complex IIb-IIIa (en) deficiency of platelet fibrinogen receptor (en) platelet glycoprotein IIb-IIIa deficiency (en) platelet-type bleeding disorder 2 (en) thrombasthenia of Glanzmann and Naegeli (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
is first of	nodeID://b50956969
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950620

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