Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

inherited thrombophilia
Synonyms

hereditary thrombophilia

thrombophilia, hereditary

hereditary hypercoagulable disorder

Definitions

An instance of thrombophilia that is inherited.

ID

http://purl.obolibrary.org/obo/MONDO_0100240

database_cross_reference

UMLS:C2584620

MEDGEN:391721

OMIMPS:188050

definition

An instance of thrombophilia that is inherited.

has_exact_synonym

hereditary thrombophilia

thrombophilia, hereditary

hereditary hypercoagulable disorder

id

MONDO:0100240

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

inherited thrombophilia

notation

MONDO:0100240

prefLabel

inherited thrombophilia

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

skos_exactMatch

https://omim.org/phenotypicSeries/PS188050

http://linkedlifedata.com/resource/umls/id/C2584620

http://identifiers.org/medgen/391721

terms_creator

https://orcid.org/0000-0001-5208-3432

treeView

http://purl.obolibrary.org/obo/MONDO_0021181

http://purl.obolibrary.org/obo/MONDO_0002305

subClassOf

http://purl.obolibrary.org/obo/MONDO_0021181

http://purl.obolibrary.org/obo/MONDO_0002305

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