loading...| Preferred Name |
factor VII deficiency |
| Synonyms |
deficiency, stable |
| Definitions |
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. |
| ID |
http://purl.obolibrary.org/obo/DOID_2215 |
| database_cross_reference |
GARD:2238 SNOMEDCT_US_2022_09_01:154820003 NCI:C131631 MESH:D005168 ICD10CM:D68.2 UMLS_CUI:C0015503 |
| definition |
A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. |
| disease has feature | |
| has exact synonym |
deficiency, stable |
| has material basis in | |
| has symptom |
http://purl.obolibrary.org/obo/SYMP_0000742 http://purl.obolibrary.org/obo/SYMP_0000007 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2215 |
| in_subset | |
| label |
factor VII deficiency |
| notation |
DOID:2215 |
| prefLabel |
factor VII deficiency |
| subClassOf |