Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/188050
http://purl.bioontology.org/ontology/OMIM/188050
Preferred Name

THROMBOPHILIA DUE TO THROMBIN DEFECT
Synonyms
VENOUS THROMBOEMBOLISM
THROMBOPHILIA DUE TO FACTOR 2 DEFECT
THROMBOSIS, PROTECTION AGAINST
VENOUS THROMBOSIS
THPH1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
VENOUS THROMBOEMBOLISM
THROMBOPHILIA DUE TO FACTOR 2 DEFECT
THROMBOSIS, PROTECTION AGAINST
VENOUS THROMBOSIS
THPH1
prefLabel
THROMBOPHILIA DUE TO THROMBIN DEFECT
Gene Symbol
MTHFR
Scope Statement
Caused by mutation in the coagulation factor 2 gene (F2, 176930.0009) [MOLECULAR BASIS]
Onset in childhood [MISCELLANEOUS]
type
Has manifestation
tui
T046
T047
T033
Gene Locus
1p36.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
188050
Semantic type UMLS property
Has inheritance type
cui
C1861172
C0042487
C3160733
OMIM Entry Type
3
OMIM MimType Value
pound
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