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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

GARD:2238

ICD10CM:D68.2

MESH:D005168

NCI:C131631

SNOMEDCT_US_2020_03_01:154820003

UMLS_CUI:C0015503

Subsets

NCIthesaurus

Synonyms

deficiency, stable [EXACT]

Factor VII deficiency [EXACT]

Parent Relationships

is_a blood coagulation disease

is_a autosomal recessive disease

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