Search Ontology:
Human Disease
factor XII deficiency
- Term ID
- DOID:2231
- Synonyms
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- deficiency, Hageman
- Factor XII deficiency disease
- Hageman Factor deficiency
- 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. (2)
- References
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- GARD:6558
- MESH:D005175
- MIM:234000
- NCI:C131740
- ORDO:330
- SNOMEDCT_US_2023_03_01:46981006
- UMLS_CUI:C0015526
- Ontology
- Human Disease ( DOID:2231 )
- is a type of
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Genes Involved
Zebrafish Models