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DO Term : X-linked thrombophilia due to factor IX defect [DOID:0111899] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.

synonyms:
MESH:C567581,
UMLS_CUI:C2749016,
300807,
OMIM:300807,
THPH8

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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