Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

thrombophilia due to thrombin defect
Synonyms

prothrombin 20210G>A thrombophilia

hyperprothrombinemia

venous thrombosis

factor II-related thrombophilia

thrombophilia due to factor 2 defect

thrombosis, protection against

thromboembolism, susceptibility to

prothrombin G20210A thrombophilia

THPH1

Venous thromboembolism

thrombophilia due to thrombin defect

venous thrombosis, protection against

prothrombin thrombophilia

prothrombin-related thrombophilia

venous thromboembolism, susceptibility to

thrombophilia 1 due to thrombin defect

Definitions

The formation of a blood clot (thrombus) in the lumen of a vein.

ID

http://purl.obolibrary.org/obo/MONDO_0008559

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0008559

database_cross_reference

MEDGEN:463623

SCTID:111293003

OMIM:188050

UMLS:C3160733

DOID:0080701

DOID:0111907

GARD:10815

ICD9:453.9

definition

The formation of a blood clot (thrombus) in the lumen of a vein.

exactMatch

http://identifiers.org/medgen/463623

https://omim.org/entry/188050

http://identifiers.org/snomedct/111293003

http://linkedlifedata.com/resource/umls/id/C3160733

http://purl.obolibrary.org/obo/DOID_0080701

http://purl.obolibrary.org/obo/DOID_0111907

has_broad_synonym

Venous thromboembolism

has_exact_synonym

thrombophilia due to thrombin defect

venous thrombosis, protection against

prothrombin thrombophilia

prothrombin-related thrombophilia

venous thromboembolism, susceptibility to

thrombophilia 1 due to thrombin defect

has_related_synonym

prothrombin 20210G>A thrombophilia

hyperprothrombinemia

venous thrombosis

factor II-related thrombophilia

thrombophilia due to factor 2 defect

thrombosis, protection against

thromboembolism, susceptibility to

prothrombin G20210A thrombophilia

THPH1

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0008559

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

thrombophilia due to thrombin defect

notation

MONDO:0008559

preferred label

thrombophilia due to thrombin defect

prefLabel

thrombophilia due to thrombin defect

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100240

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