| Metadata | |
|---|---|
| ID | DOID:2235 |
| Name | prothrombin deficiency |
| Definition | A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325, https://ghr.nlm.nih.gov/condition/prothrombin-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/30306070, https://www.omim.org/entry/613679 |
| Xrefs |
SNOMEDCT_US_2023_03_01:33297000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Congenital factor II deficiency [EXACT] Factor II deficiency [RELATED] Hereditary factor II deficiency disease [EXACT] hypoprothrombinemia [EXACT] |
| Parent Relationships |
is_a thrombophilia |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |