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DO Term : factor XII deficiency [DOID:2231] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
Factor XII deficiency disease,
Hageman Factor deficiency,
234000,
ORDO:330,
SNOMEDCT_US_2023_03_01:46981006,
NCI:C131740,
GARD:6558,
MESH:D005175,
deficiency, Hageman,
OMIM:234000,
UMLS_CUI:C0015526

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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