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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 3:55,480,024...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 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 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:25741868, 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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital afibrinogenemia 5
        Congenital Dysfibrinogenemia 3
        Congenital Hypodysfibrinogenemia 3
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                congenital afibrinogenemia 5
                  Congenital Dysfibrinogenemia 3
                  Congenital Hypodysfibrinogenemia 3
paths to the root