autosomal recessive thrombophilia due to protein S deficiency

Summary

DOID:0111905 - autosomal recessive thrombophilia due to protein S deficiency

Disease Ontology 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: THPH6, autosomal recessive thrombophilia due to congenital protein S deficiency, severe hereditary thrombophilia due to congenital protein S deficiency,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pros1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), protein S deficiency (is_a)