| 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/613225, http://omim.org/entry/613235, 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 |