loading...| Preferred Name |
hereditary thrombophilia due to congenital protein C deficiency |
|
| Synonyms |
autosomal recessive thrombophilia due to PC deficiency protein C deficiency hereditary thrombophilia due to congenital protein C deficiency autosomal recessive thrombophilia due to congenital protein C deficiency Protein C deficiency Protein C deficiency disease hereditary thrombophilia due to PC deficiency severe hereditary thrombophilia due to congenital protein C deficiency |
|
| Definitions |
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019145 |
|
| has_exact_synonym |
autosomal recessive thrombophilia due to PC deficiency protein C deficiency hereditary thrombophilia due to congenital protein C deficiency autosomal recessive thrombophilia due to congenital protein C deficiency Protein C deficiency Protein C deficiency disease hereditary thrombophilia due to PC deficiency |
|
| has_related_synonym |
severe hereditary thrombophilia due to congenital protein C deficiency |
|
| label |
hereditary thrombophilia due to congenital protein C deficiency |
|
| prefixIRI |
MONDO:0019145 |
|
| prefLabel |
hereditary thrombophilia due to congenital protein C deficiency |
|
| textual definition |
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018384 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019145 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019145 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019145 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019145 | MONDO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_3383 | HRDO | LOOM |