factor VII deficiency

Term ID

DOID:2215

Synonyms

• deficiency, stable

Definition

A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. (2)

References

• GARD:2238
• ICD10CM:D68.2
• MESH:D005168
• NCI:C131631
• OMIM:227500
• ORDO:327
• SNOMEDCT_US_2023_03_01:154820003
• UMLS_CUI:C0015503

Ontology

Human Disease   ( DOID:2215 )