| Metadata | |
|---|---|
| ID | DOID:2215 |
| Name | factor VII deficiency |
| 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. http://omim.org/entry/227500, https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes |
| Xrefs |
SNOMEDCT_US_2023_03_01:154820003 |
| SKOS |
exactMatch MIM:227500 exactMatch ORDO:327 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency, stable [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some gum bleeding disease has feature some hemarthrosis has symptom some bleeding has material basis in some autosomal recessive inheritance has symptom some menorrhagia has symptom some epistaxis |