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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:congenital afibrinogenemia
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Accession:DOID:2236 term browser browse the term
Definition:A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). (DO)
Synonyms:exact_synonym: Afibrinogenemias;   Congenital Afibrinogenaemia;   Congenital Afibrinogenaemias;   Congenital Afibrinogenemias;   Congenital Hypofibrinogenemias;   Familial Afibrinogenemia;   Familial Afibrinogenemias;   Fibrinogen Deficiencies;   Fibrinogen Deficiency;   HYPOFIBRINOGENEMIA;   afibrinogenemia;   congenital hypofibrinogenemia;   factor I deficiency
 primary_id: MESH:D000347
 alt_id: OMIM:202400
 xref: GARD:5761;   NCI:C98130
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital afibrinogenemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia
ClinVar Annotator: match by term: Factor I deficiency		 ClinVar PMID:849647 PMID:8613545 PMID:12562389 PMID:17018561 PMID:25741868 More... NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)		 ClinVar
CTD
OMIM
RGD		 PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 More... RGD:5688762, RGD:11040559 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia, congenital
ClinVar Annotator: match by OMIM:202400		 ClinVar
OMIM
RGD		 PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... RGD:737709 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)		 ClinVar
OMIM
RGD		 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 More... RGD:737710, RGD:11352676 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Congenital Dysfibrinogenemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2
ClinVar Annotator: match by term: Dysfibrinogenemia
ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1		 OMIM
ClinVar		 PMID:237956 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 More... NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:nonsense mutation:cds:p.w467X(human)		 ClinVar
OMIM
RGD		 PMID:25741868 PMID:24711018 PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)		 ClinVar
OMIM
RGD		 PMID:25741868 PMID:25551304 PMID:24482809 RGD:11352672, RGD:11352691 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar Annotator: match by term: FIBRINOGEN LONGMONT		 ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:missense mutation:exon:p.R375W (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:frameshift mutation: :c.554delA (human)
ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
ClinVar Annotator: match by term: Hypodysfibrinogenemia		 ClinVar
RGD		 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... RGD:11352674, RGD:11352675, RGD:11352678, RGD:11352680, RGD:11352681, RGD:11352682, RGD:11352694 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    physical disorder 3130
      congenital afibrinogenemia 5
        Congenital Dysfibrinogenemia 3
        Congenital Hypodysfibrinogenemia 3
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal recessive disease 3544
                congenital afibrinogenemia 5
                  Congenital Dysfibrinogenemia 3
                  Congenital Hypodysfibrinogenemia 3
paths to the root