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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 Hypodysfibrinogenemia
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Accession:DOID:9004929 term browser browse the term
Synonyms:exact_synonym: Hypodysfibrinogenemia
 related_synonym: FIBRINOGEN CHRISTCHURCH 2;   FIBRINOGEN HAIFA 1;   FIBRINOGEN LONGMONT;   FIBRINOGEN NIJMEGEN;   FIBRINOGEN TOKYO 2;   fibrinogen Baltimore 2;   fibrinogen Philadelphia
 primary_id: MESH:C565970
 alt_id: RDO:0014466
For additional species annotation, visit the Alliance of Genome Resources.



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Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGA fibrinogen alpha chain IAGP ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain IAGP ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN
ClinVar Annotator: match by term: FIBRINOGEN LONGMONT
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP 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: Hypodysfibrinogenemia
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
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 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    physical disorder 4766
      congenital afibrinogenemia 6
        Congenital Hypodysfibrinogenemia 3
Path 2
Term Annotations click to browse term
  disease 22046
    Developmental Disease 16474
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14166
        genetic disease 13548
          monogenic disease 10632
            autosomal genetic disease 9273
              autosomal recessive disease 5436
                congenital afibrinogenemia 6
                  Congenital Hypodysfibrinogenemia 3
paths to the root