Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Dysfibrinogenemia, Congenital

Synonyms
ID

http://purl.bioontology.org/ontology/MESH/C562727

cui

C0272350

HM

D000347

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D000347

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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