Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

thrombophilia due to thrombomodulin defect

Synonyms

THPH12

THBD-related bleeding disorder

thrombomodulin-related coagulopathy

THBD-related coagulopathy

thrombomodulin-related bleeding disorder

Definitions

A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.

ID

http://purl.obolibrary.org/obo/DOID_0111908

database_cross_reference

UMLS_CUI:C3280976

SNOMEDCT_US_2022_09_01:1197595004

MESH:C566057

ORDO:436169

OMIM:614486

definition

A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.

has exact synonym

THPH12

THBD-related bleeding disorder

thrombomodulin-related coagulopathy

THBD-related coagulopathy

thrombomodulin-related bleeding disorder

has material basis in

http://purl.obolibrary.org/obo/GENO_0000934

has_obo_namespace

disease_ontology

id

DOID:0111908

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

thrombophilia due to thrombomodulin defect

notation

DOID:0111908

prefLabel

thrombophilia due to thrombomodulin defect

subClassOf

http://purl.obolibrary.org/obo/DOID_2452

http://purl.obolibrary.org/obo/DOID_0050739

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/614486 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/C566057 Medical Subject Headings LOOM