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 |
OMIM:227500 SNOMEDCT_US_2023_03_01:154820003 MESH:D005168 UMLS_CUI:C0015503 NCI:C131631 ICD10CM:D68.2 GARD:2238 ORDO:327 |
|
| 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 match |
OMIM:227500 ORDO:327 |
|
| has exact synonym |
deficiency, stable |
|
| has material basis in | ||
| has symptom |
http://purl.obolibrary.org/obo/SYMP_0000448 http://purl.obolibrary.org/obo/SYMP_0000742 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:2215 |
|
| in_subset | ||
| label |
factor VII deficiency |
|
| notation |
DOID:2215 |
|
| prefLabel |
factor VII deficiency |
|
| subClassOf |