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Metadata
ID DOID:0112174
Name combined deficiency of vitamin K-dependent clotting factors 2
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/
Xrefs

MESH:C564393

OMIM:607473

Synonyms

VKCFD2 [EXACT]

Parent Relationships

is_a hereditary combined deficiency of vitamin K-dependent clotting factors

is_a autosomal recessive disease

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