| Metadata | |
|---|---|
| ID | DOID:0050637 |
| Name | Finnish type amyloidosis |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AGel amyloidosis [EXACT] AMYLOIDOSIS, MERETOJA TYPE [EXACT] gelsolin amyloidosis [EXACT] Lattice corneal dystrophy type II [EXACT] |
| Parent Relationships |
is_a eye disease |