ZFIN Human Disease: factor XIII deficiency

OBO ID: DOID:2211

Term Name:	factor XIII deficiency		Search Ontology:
Synonyms:	deficiency, Laki-Lorand factor Factor XIII deficiency disease Hereditary factor XIII deficiency 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. (3)
References:	GARD:10766 MESH:D005177 NCI:C98941 OMIM:613225 OMIM:613235 SNOMEDCT_US_2023_03_01:50189006 UMLS_CUI:C0015530
Ontology:	Human Disease ( DOID:2211 )

Relationships

is a type of:	autosomal recessive disease blood coagulation disease autosomal recessive disease blood coagulation disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
F13A1	f13a1b f13a1a.1 f13a1a.2	Factor XIIIA deficiency	613225
F13B	f13b	Factor XIIIB deficiency	613235

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None