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loading...| Preferred Name |
prothrombin deficiency |
|
| Synonyms |
Congenital factor II deficiency |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2235 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:33297000 UMLS_CUI:C0272317 MESH:C562724 MIM:613679 NCI:C26799 ORDO:325 |
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| 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. |
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| has exact synonym |
Congenital factor II deficiency hypoprothrombinemia Hereditary factor II deficiency disease |
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology |
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| has_related_synonym |
Factor II deficiency |
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| id |
DOID:2235 |
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| in_subset | ||
| label |
prothrombin deficiency |
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| notation |
DOID:2235 |
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| prefLabel |
prothrombin deficiency |
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| subClassOf |
Create mapping