Disease

autosomal recessive thrombophilia due to protein C deficiency

Definition

A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.

Synonyms

autosomal recessive PROC deficiency
autosomal recessive protein C deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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