loading...| Preferred Name |
Thrombophilia due to protein C deficiency, autosomal recessive |
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| Synonyms |
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| Definitions |
(THPH4): A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_612304 |
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| definition |
(THPH4): A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:612304 |
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| label |
Thrombophilia due to protein C deficiency, autosomal recessive |
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| notation |
OMIM:612304 |
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| prefLabel |
Thrombophilia due to protein C deficiency, autosomal recessive |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0012860 | MONDO | LOOM | |
| http://identifiers.org/omim/612304 | REXO | LOOM | |
| http://identifiers.org/omim/612304 | GEXO | LOOM | |
| http://identifiers.org/omim/612304 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/612304 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0012860 | DOVES | LOOM |