OBO ID: DOID:0050637 |
Term Name: | Finnish type amyloidosis | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050637 ) |
OTHER Finnish type amyloidosis PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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