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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 ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
JBrowse link
G FGB fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 NCBI chr15:52,220,690...52,228,526
Ensembl chr15:52,220,611...52,228,250
JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia ClinVar PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... NCBI chr15:52,261,215...52,270,077
Ensembl chr15:52,261,217...52,269,964
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14702
    physical disorder 3975
      congenital afibrinogenemia 5
        Congenital Hypodysfibrinogenemia 3
Path 2
Term Annotations click to browse term
  disease 14702
    Developmental Disease 11890
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10593
        genetic disease 10174
          monogenic disease 8270
            autosomal genetic disease 7333
              autosomal recessive disease 4497
                congenital afibrinogenemia 5
                  Congenital Hypodysfibrinogenemia 3
paths to the root