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ONTOLOGY REPORT - ANNOTATIONS


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: Cerebral Amyloid Angiopathy, Gsn-Related;   Familial Amyloid Polyneuropathy Type Iv;   Familial Amyloidosis, Finnish Type;   Finnish Type Familial Amyloid Neuropathy;   Gelsolin-Related Amyloidosis;   Kymenlaakso Syndrome;   Meretoja syndrome;   Meretoja type amyloidosis;   Meretoja's syndrome;   amyloid cranial neuropathy with lattice corneal dystrophy;   amyloidosis 5;   amyloidosis V;   amyloidosis due to mutant gelsolin;   lattice corneal dystrophy associated with familial systemic amyloidosis;   lattice corneal dystrophy, Gelsolin type;   lattice dystrophy of the cornea with hereditary generalized amyloidosis
 narrow_synonym: CORNEAL DYSTROPHY, LATTICE TYPE II;   LCD2
 primary_id: MESH:C537459
 alt_id: OMIM:105120;   RDO:0003304
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        Proteostasis Deficiencies 259
          amyloidosis 42
            Finnish type amyloidosis 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              Hereditary Eye Diseases 504
                corneal dystrophy 40
                  epithelial-stromal TGFBI dystrophy 5
                    lattice corneal dystrophy 4
                      Finnish type amyloidosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.