Disease #00457 (afibrinogenemia, congenital, OMIM:202400)

Official abbreviation -
Name afibrinogenemia, congenital
OMIM ID 202400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 3 genes FGA, FGB, FGG
Associated tissues -
Disease features -
Remarks -
Date created 2014-07-11 19:14:25 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00017892 - PubMed: Yoshida 1988 2-generation family, affected father and 2 daugthers - - Japan - - - - - afibrinogenemia, congenital hypofibrinogenemiano history of thrombosis or hemorrhage FGG FGG 1 3 Johan den Dunnen
00017893 - PubMed: Terukina 1988 2-generation family, affected father and daugther - yes Japan - - - - - afibrinogenemia, congenital see paper; dysfibrinogenemia, abnormally prolonged thrombin time FGG FGG 1 2 Johan den Dunnen
00017894 - PubMed: Schmelzer 1989 2-generation family, affected father and daugther M ? United States - - - - - afibrinogenemia, congenital see paper FGG FGG 1 2 Johan den Dunnen
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