Human Disease Ontology

Last uploaded: November 1, 2024
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

MIM: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_2452

http://purl.obolibrary.org/obo/DOID_0050736

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