ZFIN Human Disease: factor XI deficiency

OBO ID: DOID:2229

Term Name:	factor XI deficiency		Search Ontology:
Synonyms:	Congenital factor XI deficiency hemophilia C Hereditary factor XI deficiency disease plasma thromboplastin antecedent deficiency Rosenthal's disease
Definition:	A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (2)
References:	GARD:9670 ICD10CM:D68.1 ICD9CM:286.2 MESH:D005173 NCI:C84705 OMIM:612416 SNOMEDCT_US_2023_03_01:49762007 UMLS_CUI:C0015523
Ontology:	Human Disease ( DOID:2229 )

Relationships

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

OTHER factor XI deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
F11		Factor XI deficiency, autosomal dominant
		Factor XI deficiency, autosomal recessive

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None