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
Accession: DOID:2236
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 .
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
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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
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
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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
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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
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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
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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
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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
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
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
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
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