Disease

autosomal recessive thrombophilia due to protein S deficiency

Definition

A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.

Synonyms

autosomal recessive thrombophilia due to congenital protein S deficiency
severe hereditary thrombophilia due to congenital protein S 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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