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Metadata
ID DOID:2236
Name congenital afibrinogenemia
Definition A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms
Xrefs

GARD:5761

MESH:D000347

MIM:202400

NCI:C98130

SNOMEDCT_US_2023_03_01:278504009

UMLS_CUI:C0001733

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Factor I deficiency [EXACT]

Fibrinogen deficiency [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a blood coagulation disease

is_a physical disorder

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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