Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

antithrombin III deficiency

Synonyms

hereditary thrombophilia due to congenital antithrombin deficiency

Definitions

Xref MGI. A thrombophilia that is characterized by the tendency to form clots in the veins.

ID

http://purl.obolibrary.org/obo/DOID_3755

comment

Xref MGI.

database_cross_reference

NCI:C98815

OMIM:613118

SNOMEDCT_US_2022_09_01:36351005

MESH:D020152

ICD10CM:D68.59

UMLS_CUI:C0272375

definition

A thrombophilia that is characterized by the tendency to form clots in the veins.

has exact synonym

hereditary thrombophilia due to congenital antithrombin deficiency

AT III deficiency

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:3755

in_subset

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

label

antithrombin III deficiency

notation

DOID:3755

prefLabel

antithrombin III deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_0050737

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

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http://purl.bioontology.org/ontology/OMIM/MTHU001757 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/613118 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98815 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU005311 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/D020152 Medical Subject Headings LOOM