combined deficiency of vitamin K-dependent clotting factors 1

Term ID

DOID:0112173

Synonyms

• VKCFD1

Definition

A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/9845520/

References

• MESH:C564741
• OMIM:277450
• UMLS_CUI:C1848534

Ontology

Human Disease   ( DOID:0112173 )