loading...| Preferred Name |
factor XII deficiency |
| Synonyms |
Factor XII deficiency disease |
| Definitions |
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2231 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:6558 SNOMEDCT_US_2020_03_01:46981006 ORDO:330 OMIM:234000 UMLS_CUI:C0015526 MESH:D005175 NCI:C131740 |
| has exact synonym |
Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman |
| id |
DOID:2231 |
| in_subset | |
| label |
factor XII deficiency |
| notation |
DOID:2231 |
| prefLabel |
factor XII deficiency |
| textual definition |
A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |