Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	THROMBOPHILIA DUE TO THROMBIN DEFECT
Synonyms	THROMBOSIS, PROTECTION AGAINST
ID	http://purl.bioontology.org/ontology/OMIM/188050
altLabel	THROMBOSIS, PROTECTION AGAINST THROMBOPHILIA DUE TO FACTOR 2 DEFECT VENOUS THROMBOEMBOLISM THPH1 VENOUS THROMBOSIS
cui	C0042487 C3160733 C1861172
Gene Locus	1p36.3
Gene Symbol	MTHFR
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037168 http://purl.bioontology.org/ontology/OMIM/MTHU037170 http://purl.bioontology.org/ontology/OMIM/MTHU001001 http://purl.bioontology.org/ontology/OMIM/MTHU037169 http://purl.bioontology.org/ontology/OMIM/MTHU019524 http://purl.bioontology.org/ontology/OMIM/MTHU037124
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	188050
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THROMBOPHILIA DUE TO THROMBIN DEFECT
tui	T046 T033 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D020246	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/DOID_0111907	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/ICD10CM/I82.90	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D054556	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0042487	MedlinePlus Health Topics	CUI
http://purl.bioontology.org/ontology/LNC/LA20775-5	Logical Observation Identifier Names and Codes	CUI