WormBase Tree Display for DO_term: DOID:0050637
expand all nodes | collapse all nodes | view schema
| DOID:0050637 | Name | Finnish type amyloidosis | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | AGel amyloidosis | |||
| AMYLOIDOSIS, MERETOJA TYPE | |||||
| Lattice corneal dystrophy type II | |||||
| gelsolin amyloidosis | |||||
| Parent | Is_a | DOID:5614 | |||
| DOID:0050736 | |||||
| DOID:0050639 | |||||
| DB_info | Database | OMIM | disease | 105120 | |
| Attribute_of | Gene_by_orthology | WBGene00010593 |
