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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 VIII deficiency
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Accession:DOID:12134 term browser browse the term
Definition:A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)
Synonyms:exact_synonym: Congenital Hemophilia A;   HEMA;   classic hemophilia;   classic hemophilia A;   classic hemophilias;   congenital factor 8 deficiency;   congenital factor VIII deficiency;   congenital factor VIII disorder;   haemophilia;   haemophilia A;   hemophilia;   hemophilia A;   hemophilia A, FVIII deficiency;   subhemophilia
 broad_synonym: F8-RELATED CONDITION
 related_synonym: factor VIII (Okayama)
 primary_id: MESH:D006467
 alt_id: MIM:306700;   OMIA:000437
 xref: EFO:0007267;   GARD:6591;   ICD10CM:D66;   ICD9CM:286.0;   MONDO:0010602;   NCI:C27146;   NCI:C3093;   ORDO:98878
For additional species annotation, visit the Alliance of Genome Resources.


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factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:24416283 PMID:25741868 PMID:28492532 PMID:29287849 PMID:31445392 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G F8 coagulation factor VIII treatment ISO
ISS
IMP
IAGP		 ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic
OMIM:306700
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:24931420 PMID:31899798 RGD:11530071, RGD:150520060
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:24726177 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002 PMID:22355108 PMID:24687919 RGD:11060141, RGD:11060147, RGD:11060256 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:24416283 PMID:25741868 PMID:28492532 PMID:29287849 PMID:31445392 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:2563431 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:24726177 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:25741868 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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)
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2		 OMIM
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
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		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 OMIM
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      hematopoietic system disease 3531
        blood coagulation disease 1050
          Inherited Blood Coagulation Disease 296
            factor VIII deficiency 33
              Factor V and Factor VIII, Combined Deficiency of, 2 1
              Factor VIII Deficiency, Acquired 1
              Familial Multiple Coagulation Factor Deficiency I 2
              Hemophilia A with Vascular Abnormality 0
              autosomal hemophilia A 9
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            X-linked monogenic disease 1455
              X-linked recessive disease 660
                factor VIII deficiency 33
                  Factor V and Factor VIII, Combined Deficiency of, 2 1
                  Factor VIII Deficiency, Acquired 1
                  Familial Multiple Coagulation Factor Deficiency I 2
                  Hemophilia A with Vascular Abnormality 0
                  autosomal hemophilia A 9
paths to the root