Search Ontology:
Human Disease

autosomal recessive thrombophilia due to protein S deficiency

Term ID
DOID:0111905
Synonyms
  • autosomal recessive thrombophilia due to congenital protein S deficiency
  • severe hereditary thrombophilia due to congenital protein S deficiency
  • THPH6
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. (2)
References
Ontology
Human Disease   ( DOID:0111905 )
Relationships
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Genes Involved
Zebrafish Models