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Term:Finnish type amyloidosis
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Accession:DOID:0050637 term browser browse the term
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_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)
Synonyms:exact_synonym: Amyloidosis V;   Cerebral Amyloid Angiopathy, Gsn-Related;   Familial Amyloid Polyneuropathy Type Iv;   Familial Amyloidosis, Finnish Type;   Gelsolin-Related Amyloidosis;   Kymenlaakso Syndrome;   Lattice corneal dystrophy associated with familial systemic amyloidosis;   Meretoja syndrome;   Meretoja type amyloidosis;   Meretoja's syndrome;   amyloid cranial neuropathy with lattice corneal dystrophy;   amyloidosis 5;   amyloidosis due to mutant gelsolin;   lattice corneal dystrophy, Gelsolin type;   lattice dystrophy of the cornea with hereditary generalized amyloidosis
 primary_id: MESH:C537459
 alt_id: OMIM:105120;   RDO:0003304
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Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Proteostasis Deficiencies 259
          amyloidosis 42
            Finnish type amyloidosis 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Hereditary Eye Diseases 507
                corneal dystrophy 40
                  epithelial-stromal TGFBI dystrophy 5
                    lattice corneal dystrophy 4
                      Finnish type amyloidosis 1
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