About: factor XIII deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease blood coagulation disease nodeID://b50950598 nodeID://b50950599 nodeID://b50950600 nodeID://b50950601 nodeID://b50950602
label	factor XIII deficiency
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2211
database_cross_reference	GARD:10766 MESH:D005177 NCI:C98941 OMIM:613225 OMIM:613235 SNOMEDCT_US_2021_09_01:50189006 UMLS_CUI:C0015530
has_exact_synonym	Factor XIII deficiency disease (en) Hereditary factor XIII deficiency disease (en) deficiency, Laki-Lorand factor (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is first of	nodeID://b50956973
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950603

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