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Metadata
ID DOID:0112173
Name combined deficiency of vitamin K-dependent clotting factors 1
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/
Xrefs

MESH:C564741

OMIM:277450

UMLS_CUI:C1848534

Synonyms

VKCFD1 [EXACT]

Parent Relationships

is_a hereditary combined deficiency of vitamin K-dependent clotting factors

is_a autosomal recessive disease

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