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 | |
has_obo_namespace |
disease_ontology |
id |
DOID:0111908 |
in_subset | |
label |
thrombophilia due to thrombomodulin defect |
notation |
DOID:0111908 |
prefLabel |
thrombophilia due to thrombomodulin defect |
subClassOf |
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 |