Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 XIII deficiency
go back to main search page
Accession:DOID:2211 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Factor XIII Deficiencies;   Laki-Lorand factor deficiency;   factor XIII deficiency disease;   hereditary factor XIII deficiency disease
 primary_id: MESH:D005177
 xref: GARD:10766;   NCI:C98941
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
factor XIII deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)
ClinVar
CTD
PMID:1644910, PMID:31136071, PMID:21512576, PMID:23508224, PMID:19937244, PMID:20179087, PMID:19438481 RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:2334637 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Factor xiii, a subunit, deficiency of
ClinVar Annotator: match by OMIM:613225
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1353995, PMID:1644910, PMID:7236530, PMID:7727776, PMID:7918041, PMID:8025280, PMID:8547636, PMID:9459313, PMID:9531026, PMID:9531593, PMID:9550516, PMID:9712293, PMID:9920838, PMID:10027709, PMID:10365735, PMID:10910914, PMID:11167856, PMID:11380452, PMID:11692020, PMID:12072871, PMID:12100162, PMID:12456499, PMID:14695539, PMID:16763156, PMID:17393027, PMID:19438481, PMID:20179087, PMID:21512576, PMID:21633364, PMID:22995991, PMID:24118344, PMID:24194833, PMID:25741868, PMID:26503545, PMID:28492532, PMID:28520207, PMID:31064749, PMID:24118344, PMID:8025280 RGD:11041856, RGD:11041811 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by OMIM:613235
ClinVar Annotator: match by null
DNA:mutations:multiple:
ClinVar Annotator: match by term: Factor xiii, b subunit, deficiency of
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
OMIM
ClinVar
PMID:2334637, PMID:8324218, PMID:8639893, PMID:11313256, PMID:12456499, PMID:14695539, PMID:16241947, PMID:25741868, PMID:28492532, PMID:20331752 RGD:10450738 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          factor XIII deficiency 3
            Factor XIII, B Subunit, Deficiency Of 1
            Factor Xiii, A Subunit, Deficiency Of 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                factor XIII deficiency 3
                  Factor XIII, B Subunit, Deficiency Of 1
                  Factor Xiii, A Subunit, Deficiency Of 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.