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

Delete	Subject	Author	Type	Created
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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