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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;   factor I deficiency
 narrow_synonym: HYPOFIBRINOGENEMIA, CONGENITAL
 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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia ClinVar PMID:849647, PMID:8613545, PMID:12562389, PMID:17018561, PMID:25741868, PMID:25988862 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)
ClinVar
CTD
OMIM
PMID:1391954, PMID:2738154, PMID:3345340, PMID:3590111, PMID:3618591, PMID:4052020, PMID:6191801, PMID:7298640, PMID:10602365, PMID:10891444, PMID:10910940, PMID:12358944, PMID:12871326, PMID:14615374, PMID:16362348, PMID:19420351, PMID:25741868, PMID:27164460, PMID:28492532, PMID:31064749, PMID:15795544, PMID:10602365 RGD:5688762, RGD:11040559 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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
PMID:1565641, PMID:3194892, PMID:10666208, PMID:10688828, PMID:11468164, PMID:12161363, PMID:12393540, PMID:12573244, PMID:15070683, PMID:15795540, PMID:19420351, PMID:21713329, PMID:22273812, PMID:24033266, PMID:25592583, PMID:25741868, PMID:27164460, PMID:28492532, PMID:31064749, PMID:12393540 RGD:737709 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
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
PMID:1471077, PMID:1733971, PMID:2512677, PMID:2617471, PMID:2971042, PMID:2976995, PMID:3337908, PMID:3563970, PMID:4002201, PMID:6654188, PMID:6886002, PMID:7635941, PMID:10688828, PMID:11001902, PMID:11001903, PMID:11019970, PMID:11435303, PMID:16144795, PMID:17854317, PMID:23560673, PMID:24033266, PMID:24556703, PMID:25320241, PMID:25741868, PMID:28492532, PMID:31064749, PMID:11001903, PMID:15284111 RGD:737710, RGD:11352676 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia
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 PMID:1733971, PMID:2512677, PMID:2617471, PMID:2971042, PMID:2976995, PMID:3337908, PMID:3563970, PMID:4002201, PMID:6654188, PMID:6886002, PMID:7635941, PMID:11344575, PMID:15632207, PMID:25741868, PMID:31064749, PMID:12198657, PMID:16959688, PMID:23492915, PMID:24914742, PMID:16607083, PMID:26039544, PMID:23560673 RGD:11352674, RGD:11352675, RGD:11352678, RGD:11352680, RGD:11352681, RGD:11352682, RGD:11352694 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Dysfibrinogenemia, Congenital 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 PETOSKEY
ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1
ClinVar Annotator: match by term: Dysfibrinogenemia
OMIM
ClinVar
PMID:1912564, PMID:2738154, PMID:3345340, PMID:3590111, PMID:3618591, PMID:3667568, PMID:4052020, PMID:4082078, PMID:6191801, PMID:6667926, PMID:7298640, PMID:8140431, PMID:11435303, PMID:11460527, PMID:16846481, PMID:25741868, PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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
PMID:24711018, PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)
OMIM PMID:25551304, PMID:24482809 RGD:11352672, RGD:11352691 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        hemorrhagic disease 610
          congenital afibrinogenemia 5
            Congenital Hypodysfibrinogenemia 3
            Dysfibrinogenemia, Congenital 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                congenital afibrinogenemia 5
                  Congenital Hypodysfibrinogenemia 3
                  Dysfibrinogenemia, Congenital 3
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.