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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_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)
Synonyms:exact_synonym: 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;   cerebral amyloid angiopathy, GSN-related;   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
For additional species annotation, visit the Alliance of Genome Resources.


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Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by OMIM:105120
ClinVar Annotator: match by term: Meretoja syndrome
OMIM
ClinVar
PMID:1311149, PMID:1315718, PMID:1322359, PMID:1322360, PMID:1652889, PMID:1658654, PMID:1848334, PMID:2153578, PMID:2175344, PMID:2176481, PMID:2176550, PMID:4543600, PMID:6610849, PMID:6975851, PMID:7550233, PMID:7868127, PMID:8388189, PMID:11754099, PMID:25741868, PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          amyloidosis 60
            Finnish type amyloidosis 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            corneal disease 185
              corneal dystrophy 44
                epithelial-stromal TGFBI dystrophy 5
                  lattice corneal dystrophy 4
                    Finnish type amyloidosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.