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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

GARD:10766

MESH:D005177

NCI:C98941

OMIM:613225

OMIM:613235

SNOMEDCT_US_2020_03_01:50189006

UMLS_CUI:C0015530

Subsets

NCIthesaurus

Synonyms

deficiency, Laki-Lorand factor [EXACT]

Factor XIII deficiency disease [EXACT]

Hereditary factor XIII deficiency disease [EXACT]

Parent Relationships

is_a blood coagulation disease

is_a autosomal recessive disease

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