WormMine: DiseaseOntology DOID:2211 factor XIII deficiency Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: 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.

1 Ontology

• Name: Disease Ontology

9 Parents

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:74	hematopoietic system disease	A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:1247	blood coagulation disease	A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
DOID:2211	factor XIII deficiency	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.

8 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:1247	DOID:2211
is_a	DOID:0050737	DOID:2211
is_a	DOID:630	DOID:2211
is_a	DOID:0050177	DOID:2211
is_a	DOID:74	DOID:2211
is_a	DOID:0050739	DOID:2211
is_a	DOID:4	DOID:2211
is_a	DOID:7	DOID:2211

3 Synonyms

• Name: deficiency, Laki-Lorand factor
• Type: synonym

• Name: Factor XIII deficiency disease
• Type: synonym

• Name: Hereditary factor XIII deficiency disease
• Type: synonym