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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: Factor XIII deficiency disease, Factor XIII deficiency disease (disorder), Hereditary factor XIII deficiency disease, Hereditary factor XIII deficiency disease (disorder), deficiency, Laki-Lorand factor,
Echinobase Genes :
MIM:613225 - factor xiii, a subunit, deficiency of |
MIM:613235 - factor xiii, b subunit, deficiency of |
Other Model Organisms: AGR, 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),
inherited blood coagulation disease (is_a)