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