Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	thrombophilia
Synonyms	hypercoagulability state
Definitions	A blood coagulation disease that is characterized by an increased tendency to form clots. OMIM mapping confirmed by DO. [LS].
ID	http://purl.obolibrary.org/obo/DOID_2452
comment	OMIM mapping confirmed by DO. [LS].
database_cross_reference	OMIM:PS188050 SNOMEDCT_US_2022_09_01:191302007 NCI:C84479 UMLS_CUI:C0398623 ICD10CM:D68.59 MESH:D019851
definition	A blood coagulation disease that is characterized by an increased tendency to form clots.
has exact match	MESH:D019851
has exact synonym	hypercoagulability state
has_obo_namespace	disease_ontology
id	DOID:2452
in_subset	http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	thrombophilia
notation	DOID:2452
prefLabel	thrombophilia
subClassOf	http://purl.obolibrary.org/obo/DOID_1247

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Mapping To	Ontology	Source
http://purl.bmicc.cn/ontology/ICD11CN/3B61	International Classification of Diseases, 11th Edition, China	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84479	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/MESH/D019851	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_2452	GenEpiO	LOOM
http://purl.obolibrary.org/obo/DOID_2452	GenEpiO	SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU054815	Online Mendelian Inheritance in Man	LOOM