OBO ID: DOID:0050637
Term Name: Finnish type amyloidosis Search Ontology:
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 Finnish type amyloidosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GSN Amyloidosis, Finnish type 105120
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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