OBO ID: DOID:0111905
Term Name: autosomal recessive thrombophilia due to protein S deficiency Search Ontology:
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 PROS1 on chromosome 3q11.1. (2)
References:
Ontology: Human Disease   (DOID:0111905)
OTHER autosomal recessive thrombophilia due to protein S deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PROS1 Thrombophilia 5 due to protein S deficiency, autosomal recessive 614514
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None