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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 V deficiency
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Accession:DOID:2216 term browser browse the term
Definition:A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)
Synonyms:exact_synonym: Factor V Deficiencies;   Labile Factor Deficiencies;   Labile Factor Deficiency;   Owren Disease;   Owren Parahemophilia;   Owren's Disease;   Owrens Disease;   Parahemophilia;   Parahemophilias;   hereditary hypoproaccelerinaemia;   labile deficiency;   proaccelerin deficiency
 primary_id: MESH:D005166
 alt_id: OMIM:227400
 xref: GARD:2237;   NCI:C98938
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V susceptibility ISO DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... RGD:11564334 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency		 ClinVar
RGD		 PMID:25741868 PMID:9546392 RGD:1600100 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO DNA:missense mutation: :p.D122V (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2		 OMIM
CTD
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Quebec platelet disorder		 CTD
ClinVar
OMIM		 PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        blood coagulation disease 959
          Inherited Blood Coagulation Disease 213
            factor V deficiency 5
              Factor V and Factor VIII, Combined Deficiency of, 2 1
              Familial Multiple Coagulation Factor Deficiency I 2
              Quebec platelet disorder 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                factor V deficiency 5
                  Factor V and Factor VIII, Combined Deficiency of, 2 1
                  Familial Multiple Coagulation Factor Deficiency I 2
                  Quebec platelet disorder 1
paths to the root