Finnish type amyloidosis
Information
- Disease name
- Finnish type amyloidosis
- Disease ID
- DOID:0050637
- Description
- "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." [url:https\://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9120
- Cross Reference ID (Disease Ontology)
- GARD:2339
- Cross Reference ID (Disease Ontology)
- MIM:105120
- Cross Reference ID (Disease Ontology)
- ORDO:85448
- Exact Synonym (Disease Ontology)
- AGel amyloidosis
- Exact Synonym (Disease Ontology)
- AMYLOIDOSIS, MERETOJA TYPE
- Exact Synonym (Disease Ontology)
- gelsolin amyloidosis
- Exact Synonym (Disease Ontology)
- Lattice corneal dystrophy type II