combined deficiency of vitamin K-dependent clotting factors 2

Term ID

DOID:0112174

Synonyms

• VKCFD2

Definition

A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/14765194/

References

• MESH:C564393
• MIM:607473

Ontology

Human Disease   ( DOID:0112174 )