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Metadata
ID DOID:2231
Name factor XII 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.
http://omim.org/entry/234000, https://rarediseases.org/rare-diseases/factor-xii-deficiency/
Xrefs

GARD:6558

MESH:D005175

MIM:234000

NCI:C131740

ORDO:330

SNOMEDCT_US_2023_03_01:46981006

UMLS_CUI:C0015526

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

deficiency, Hageman [EXACT]

Factor XII deficiency disease [EXACT]

Hageman Factor deficiency [EXACT]

Parent Relationships

is_a blood coagulation disease

is_a autosomal recessive disease

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