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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | prothrombin deficiency | |
| Synonyms |
Factor II deficiency Congenital factor II deficiency hypoprothrombinemia Hereditary factor II deficiency disease |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2235 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
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|
| alternative label |
Factor II deficiency Congenital factor II deficiency hypoprothrombinemia Hereditary factor II deficiency disease
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|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:33297000 UMLS_CUI:C0272317 MESH:C562724 MIM:613679 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. OMIM mapping confirmed by DO. [SN].
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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
|
|
| in_subset | ||
| label |
prothrombin deficiency
|
|
| notation |
DOID:2235
|
|
| note |
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. OMIM mapping confirmed by DO. [SN].
|
|
| preferred label |
prothrombin deficiency
|
|
| prefLabel |
prothrombin deficiency
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| subClassOf |
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