Metadata | |
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ID | DOID:0111905 |
Name | 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. https://pubmed.ncbi.nlm.nih.gov/20484936/, https://pubmed.ncbi.nlm.nih.gov/10063989/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive thrombophilia due to congenital protein S deficiency [EXACT] severe hereditary thrombophilia due to congenital protein S deficiency [EXACT] THPH6 [EXACT] |
Parent Relationships |
is_a protein S deficiency |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |