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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 ROUEN 1;   FIBRINOGEN TOKYO 2;   fibrinogen Baltimore 2;   fibrinogen Philadelphia
 primary_id: MESH:C565970
 alt_id: RDO:0014466


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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: FIBRINOGEN ROUEN 1
ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital		 ClinVar PMID:2742828 PMID:4084461 PMID:6575689 PMID:9536098 PMID:10891444 More... NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FGB fibrinogen beta chain IAGP ClinVar Annotator: match by term: FIBRINOGEN LONGMONT
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2		 ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More... 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)
ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
ClinVar Annotator: match by term: Hypodysfibrinogenemia
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
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 41189
    physical disorder 7135
      congenital afibrinogenemia 6
        Congenital Dysfibrinogenemia 3
          Congenital Hypodysfibrinogenemia 3
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal recessive disease 10240
                congenital afibrinogenemia 6
                  Congenital Dysfibrinogenemia 3
                    Congenital Hypodysfibrinogenemia 3
paths to the root