Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	thrombophilia due to thrombin defect
Synonyms	thrombophilia due to factor 2 defect prothrombin-related thrombophilia THPH1
Definitions	A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
ID	http://purl.obolibrary.org/obo/DOID_0111907
database_cross_reference	UMLS_CUI:C3160733 GARD:10815 OMIM:188050
definition	A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
has exact synonym	thrombophilia due to factor 2 defect prothrombin-related thrombophilia THPH1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111907
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	thrombophilia due to thrombin defect
notation	DOID:0111907
prefLabel	thrombophilia due to thrombin defect
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_2452

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/188050	Online Mendelian Inheritance in Man	LOOM