factor XII deficiency - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	factor XII deficiency	go back to main search page
Accession:	DOID:2231	browse the term
Definition:	An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
Synonyms:	exact_synonym:	Coagulation Factor 12 Deficiency; F12 DEFICIENCY; Factor 12 Deficiency; Factor XII Deficiencies; HAF DEFICIENCY; Hageman Factor Deficiency; Hageman deficiency; Hageman trait; factor 12 deficiencies; factor XII deficiency disease
	primary_id:	MESH:D005175
	alt_id:	OMIM:234000
	xref:	GARD:6558; NCI:C131740; ORDO:330
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

factor XII deficiency

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

F12

coagulation factor XII

ISO

DNA:missense:exon:C571S
DNA:polymorphism:promoter:-46C>T(human)
DNA:missense, nonsense, deletion mutations:cds:
DNA:deletion mutations, transversion mutation:introns, exon:
ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by OMIM:234000
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Factor 12 deficiency

OMIM
ClinVar

PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532, PMID:2510163, PMID:11248286, PMID:20386432, PMID:18024408

RGD:1601107, RGD:11041769, RGD:11041772, RGD:11041805

NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420

Slc34a1

solute carrier family 34 member 1

ISO

ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease

ClinVar

NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813

Term paths to the root

Path 1
Term	Annotations
disease	16085
disease of anatomical entity	15340
hematopoietic system disease	1659
hemorrhagic disease	614
factor XII deficiency	2
Path 2
Term	Annotations
disease	16085
Developmental Diseases	9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8437
genetic disease	7954
monogenic disease	5748
autosomal genetic disease	4766
autosomal recessive disease	2628
factor XII deficiency	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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