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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.


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factor V deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Factor V deficiency
ClinVar Annotator: match by term: PARAHEMOPHILIA
ClinVar Annotator: match by OMIM:227400
DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7586244, PMID:7803250, PMID:7877648, PMID:7910348, PMID:7911872, PMID:7968118, PMID:8049422, PMID:8164730, PMID:8164741, PMID:8566967, PMID:8616100, PMID:8822583, PMID:9245936, PMID:9339109, PMID:9372726, PMID:9415695, PMID:9454741, PMID:9459326, PMID:9488630, PMID:9518910, PMID:9576178, PMID:9694743, PMID:9734642, PMID:10328130, PMID:10348711, PMID:10477778, PMID:10494770, PMID:10507841, PMID:10666427, PMID:10942390, PMID:11018168, PMID:11110695, PMID:11418372, PMID:11435304, PMID:11564077, PMID:11686338, PMID:11781258, PMID:11950065, PMID:12069454, PMID:12070000, PMID:12393490, PMID:12421138, PMID:12816860, PMID:14996674, PMID:15208046, PMID:15534175, PMID:15638861, PMID:15946211, PMID:16246256, PMID:16476093, PMID:16493002, PMID:16769590, PMID:16931580, PMID:19486170, PMID:19652888, PMID:19900106, PMID:20051284, PMID:20735394, PMID:21116184, PMID:21774968, PMID:22044617, PMID:22992668, PMID:23382263, PMID:23900608, PMID:24033266, PMID:25741868, PMID:26251307, PMID:28492532, PMID:28750087, PMID:31064749, PMID:11564077 RGD:11564334 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency
ClinVar PMID:25741868, PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by OMIM:613625
DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
OMIM
ClinVar
PMID:12717434, PMID:13229969, PMID:18391077, PMID:25741868, PMID:31064749, PMID:17610559 RGD:11062141 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by OMIM:227300
OMIM
ClinVar
PMID:9045860, PMID:9546392, PMID:18391077, PMID:25741868, PMID:31064749 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by term: FMFD I
ClinVar PMID:12717434, PMID:13229969, PMID:25741868, PMID:31064749 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Quebec platelet disorder
ClinVar Annotator: match by OMIM:601709
OMIM
ClinVar
PMID:18988861, PMID:20007542, PMID:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      hematopoietic system disease 1641
        hemorrhagic disease 610
          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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                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

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