| Metadata | |
|---|---|
| ID | DOID:2211 |
| Name | factor XIII deficiency |
| 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. http://omim.org/entry/613235, http://omim.org/entry/613225, https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance |
| Xrefs |
SNOMEDCT_US_2023_03_01:50189006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency, Laki-Lorand factor [EXACT] Factor XIII deficiency disease [EXACT] Hereditary factor XIII deficiency disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some gum bleeding has symptom some abnormal wound healing has symptom some abnormal scar formation has symptom some bleeding disease has feature some hemarthrosis has material basis in some autosomal recessive inheritance has symptom some epistaxis has symptom some menorrhagia |