Search Ontology:
Human Disease

Finnish type amyloidosis

Term ID
DOID:0050637
Synonyms
  • AGel amyloidosis
  • AMYLOIDOSIS, MERETOJA TYPE
  • gelsolin amyloidosis
  • Lattice corneal dystrophy type II
Definition
An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type
References
Ontology
Human Disease   ( DOID:0050637 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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