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DO Term : thrombophilia due to thrombomodulin defect [DOID:0111908] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ORDO:436169,
thrombomodulin-related coagulopathy,
UMLS_CUI:C3280976,
THPH12,
OMIM:614486,
MESH:C566057,
THBD-related coagulopathy,
614486,
THBD-related bleeding disorder,
thrombomodulin-related bleeding disorder,
SNOMEDCT_US_2023_03_01:1197595004

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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