factor XIII deficiency

Summary

DOID:2211 - factor XIII deficiency

Disease Ontology Definition:A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.

Synonyms: deficiency, Laki-Lorand factor, Factor XIII deficiency disease (disorder), Hereditary factor XIII deficiency disease (disorder), Factor XIII deficiency disease, Hereditary factor XIII deficiency disease

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:613225 - factor xiii, a subunit, deficiency of
MIM:613235 - factor xiii, b subunit, deficiency of

MIM:613225 - factor xiii, a subunit, deficiency of

MIM:613235 - factor xiii, b subunit, deficiency of

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), blood coagulation disease (is_a)