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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)
Synonyms:exact_synonym: AGel amyloidosis;   Familial Amyloid Polyneuropathy Type Iv;   Familial Amyloidosis, Finnish Type;   Finnish type familial amyloid neuropathy;   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;   cerebral amyloid angiopathy, GSN-related;   gelsolin amyloidosis;   gelsolin-related Amyloidosis;   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
 xref: GARD:2339;   ORDO:85448


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    sensory system disease 6867
      skin disease 3899
        Genetic Skin Diseases 1836
          primary cutaneous amyloidosis 5
            Finnish type amyloidosis 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        Neurologic Manifestations 9970
          sensory system disease 6867
            eye disease 3432
              corneal disease 232
                corneal dystrophy 51
                  epithelial-stromal TGFBI dystrophy 5
                    lattice corneal dystrophy 4
                      Finnish type amyloidosis 1
paths to the root