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| Term | prothrombin deficiency | ID (Ontology) | DOID:2235 (Human Disease) |
| 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. | ||
| Also Known As | "Congenital factor II deficiency" ; "Hereditary factor II deficiency disease" ; "hypoprothrombinemia" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ blood coagulation disease | |__thrombophilia________________| prothrombin deficiency 1 rec. |
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| Is a |
autosomal recessive disease thrombophilia |
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External Crossreferences & Linkouts
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MESH:C562724 MIM:613679 NCI:C26799 ORDO:325 SNOMEDCT_US_2023_03_01:33297000 UMLS_CUI:C0272317 |
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