FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term factor XII deficiency ID (Ontology) DOID:2231 (Human Disease)
Definition A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
Also Known As "deficiency, Hageman" ; "Factor XII deficiency disease" ; "Hageman Factor deficiency"
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 Genes
 factor XII deficiency       1
 for disease ribbon | factor XII deficiency       1
 model of | factor XII deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
hematopoietic system disease     |
 |__blood coagulation disease____|
                                 factor XII deficiency  1 rec.
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Is a autosomal recessive disease
blood coagulation disease
Part of
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Synonyms
  • "deficiency, Hageman" EXACT
    "Factor XII deficiency disease" EXACT
    "Hageman Factor deficiency" EXACT
Secondary IDs
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GARD:6558
MESH:D005175
MIM:234000
NCI:C131740
ORDO:330
SNOMEDCT_US_2023_03_01:46981006
UMLS_CUI:C0015526