Search Ontology:
Human Disease
Finnish type amyloidosis
- Term ID
- DOID:0050637
- Synonyms
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- 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
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- GARD:2339
- MIM:105120
- ORDO:85448
- Ontology
- Human Disease ( DOID:0050637 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models