Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

THROMBOPHILIA DUE TO THROMBIN DEFECT
Synonyms

VENOUS THROMBOEMBOLISM
ID

http://purl.bioontology.org/ontology/OMIM/188050
altLabel

VENOUS THROMBOEMBOLISM

THROMBOPHILIA DUE TO FACTOR 2 DEFECT

THROMBOSIS, PROTECTION AGAINST

VENOUS THROMBOSIS

THPH1
cui

C1861172

C0042487

C3160733
Gene Locus

1p36.3
Gene Symbol

MTHFR
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037124

http://purl.bioontology.org/ontology/OMIM/MTHU037168

http://purl.bioontology.org/ontology/OMIM/MTHU037169

http://purl.bioontology.org/ontology/OMIM/MTHU019524
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

188050
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THROMBOPHILIA DUE TO THROMBIN DEFECT
Scope Statement

Caused by mutation in the coagulation factor 2 gene (F2, 176930.0009) [MOLECULAR BASIS]

Onset in childhood [MISCELLANEOUS]
tui

T046

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10066899 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10047249 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA20775-5 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10066899 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181252 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D054556 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10066899 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D054556 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10047253 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10047253 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10034904 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10043640 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10047249 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D3-87500 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10047249 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10043640 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/PATHTHROMBVEN COSTART CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0042487 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/CST/THROMBOPHLEB COSTART CUI
http://purl.bioontology.org/ontology/MESH/D020246 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/111293003 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/Xa0l8 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10043640 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111293003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/0571-8485 CRISP CUI
http://purl.bioontology.org/ontology/WHOFRE/0466 WHOFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/K94008 ICPC2P CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004074 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D3-87004 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D020246 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10034904 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10034904 MDRGER CUI
http://purl.bioontology.org/ontology/WHO/0466 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRGER/10047253 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/I82.90 ICD10CM CUI
http://purl.obolibrary.org/obo/MONDO_0008559 MONDO LOOM
http://www.pepathway.org/peo/1.2#THROMBOPHILIA_DUE_TO_THROMBIN_DEFECT PE-O LOOM
http://purl.obolibrary.org/obo/MONDO_0008559 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008559 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008559 DOVES LOOM
http://identifiers.org/omim/188050 REXO LOOM
http://identifiers.org/omim/188050 GEXO LOOM
http://identifiers.org/omim/188050 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_188050 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0111907 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111907 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111907 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111907 FNS-H LOOM