Preferred Name |
Dysfibrinogenemia, Congenital |
|
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/MESH/C562727 |
|
cui |
C0272350 |
|
HM |
D000347 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20121105 |
|
MeSH Frequency |
63 |
|
MMR |
20150818 |
|
notation |
C562727 |
|
prefLabel |
Dysfibrinogenemia, Congenital |
|
SC |
3 |
|
Scope Statement |
A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both. Mutations in the FGA and FGB genes have been identified. OMIM: 616004 |
|
TERMUI |
T801383 |
|
TH |
OMIM (2013) |
|
tui |
T047 |
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