Finnish Type Amyloidosis
Disease ID: disease_node_17122
Connections displayed (default: 10).
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| Dbxref | GARD:2339, MIM:105120, ORDO:85448 |
|---|---|
| Subclassof | DOID_0050736, DOID_5614, DOID_0050639 |
| Data Source | DOID |
| Synonyms | AGel amyloidosis, AMYLOIDOSIS, MERETOJA TYPE, Lattice corneal dystrophy type II, gelsolin amyloidosis |
| Disease Has Location | UBERON_0000014, UBERON_0001021, UBERON_0000970 |
| Disease Has Feature | DOID_3144, DOID_8943 |
| Doid Label | Finnish type amyloidosis |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000283 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17122 |
| Doid Id | DOID_0050637 |
| Label | Finnish Type Amyloidosis |
- Outgoing r'ship
HAS_SYMPTOMto/from Facial Paralysis(ID:disease_node_3133;disease_node_3135) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Primary Cutaneous Amyloidosis(ID:disease_node_17123) (Disease)