| 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 |
| Subclass Logical Relationships |
disease has location some nerve disease has feature some lattice corneal dystrophy disease has location some eye has material basis in some autosomal dominant inheritance has symptom some facial paralysis disease has location some zone of skin disease has feature some cutis laxa |