About   Help   FAQ
Disease Ontology Browser
autosomal recessive thrombophilia due to protein S deficiency (DOID:0111905)
Alliance: disease page
Synonyms: autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; THPH6
Alt IDs: OMIM:614514, ORDO:743, UMLS_CUI:C3281092
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2022
MGI 6.20
The Jackson Laboratory