Metadata | |
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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 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
deficiency, stable [EXACT] |
Parent Relationships |