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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 Deficiency;   Owren Disease;   Owren Parahemophilia;   Owren's Disease;   Owrens Disease;   Parahemophilia;   hereditary hypoproaccelerinaemia;   labile deficiency;   labile factor deficiencies;   parahemophilias;   proaccelerin deficiency
 xref: GARD:2237;   MESH:D005166;   MIM:227400;   MONDO:0020586;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V 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 chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		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 chr18:61,778,971...61,800,960
Ensembl chr18:61,772,917...61,800,820 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742 		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 DNA:missense mutation: :p.D122V (human) OMIM
RGD		 PMID:17610559 RGD:11062141 NCBI chr 6:13,028,036...13,039,388
Ensembl chr 6:13,016,104...13,039,379 		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 OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:61,778,971...61,800,960
Ensembl chr18:61,772,917...61,800,820 		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 6:13,028,036...13,039,388
Ensembl chr 6:13,016,104...13,039,379 		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 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 chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      hematopoietic system disease 3839
        blood coagulation disease 1444
          Inherited Blood Coagulation Disease 703
            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 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                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