Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT
Synonyms	THPH8 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST
ID	http://purl.bioontology.org/ontology/OMIM/300807
altLabel	THPH8 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST
cui	C2749016 C3275410
Gene Locus	Xq27.1-q27.2
Gene Symbol	F9 HEMB THPH8
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071552 http://purl.bioontology.org/ontology/OMIM/MTHU019524
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300807
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT
Scope Statement	Caused by mutation in the coagulation factor IX gene (F9, 300746.0112) [MOLECULAR BASIS] Based on report of 1 family (last curated July 2020) [MISCELLANEOUS]
tui	T047 T033

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567581	MESH	CUI
http://purl.obolibrary.org/obo/OMIM_300807	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C567581	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567581	RH-MESH	LOOM
http://identifiers.org/omim/300807	REXO	LOOM
http://identifiers.org/omim/300807	GEXO	LOOM
http://identifiers.org/omim/300807	RETO	LOOM