FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term factor XIII deficiency ID (Ontology) DOID:2211 (Human Disease)
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.
Also Known As "deficiency, Laki-Lorand factor" ; "Factor XIII deficiency disease" ; "Hereditary factor XIII deficiency disease"
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 Genes
 factor XIII deficiency       1
 for disease ribbon | factor XIII deficiency       1
 model of | factor XIII deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
hematopoietic system disease     |
 |__blood coagulation disease____|
                                 factor XIII deficiency  1 rec.
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Is a autosomal recessive disease
blood coagulation disease
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Synonyms
  • "deficiency, Laki-Lorand factor" EXACT
    "Factor XIII deficiency disease" EXACT
    "Hereditary factor XIII deficiency disease" EXACT
Secondary IDs
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GARD:10766
MESH:D005177
MIM:613225
MIM:613235
NCI:C98941
SNOMEDCT_US_2023_03_01:50189006
UMLS_CUI:C0015530