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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:Familial Amyloid Polyneuropathies
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Accession:DOID:9001512 term browser browse the term
Definition:Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
Synonyms:exact_synonym: Amyloid Neuropathy Type 1;   Appalachian Type Familial Amyloid Polyneuropathy;   British Type Amyloid Polyneuropathy;   Familial Amyloid Neuropathy, Andrade Type;   Familial Amyloid Polyneuropathies;   Familial Amyloid Polyneuropathy;   Familial Portuguese Polyneuritic Amyloidosis;   Hereditary Neuropathic Amyloidoses;   Hereditary Neuropathic Amyloidosis;   Iowa Type Amyloid Polyneuropathy;   Jewish Type Familial Amyloid Polyneuropathy;   Neuropathic Amyloid Syndrome;   Neuropathic Amyloid Syndromes;   Portuguese Polyneuritic Amyloidoses;   Portuguese Polyneuritic Amyloidosis;   Portuguese Type Familial Amyloid Neuropathy;   Swiss Type Amyloid Polyneuropathy;   Type I Familial Amyloid Polyneuropathy;   Type II Familial Amyloid Polyneuropathy;   Type III Familial Amyloid Polyneuropathy;   Type V Familial Amyloid Polyneuropathy;   Type VI Familial Amyloid Polyneuropathy;   Wohlwill Andrade Syndrome;   Wohlwill Corino Andrade syndrome;   familial amyloid neuropathies
 narrow_synonym: Familial Amyloid Neuropathy
 primary_id: MESH:D028227
 alt_id: DOID:8943
 xref: NCI:C84554


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Familial Amyloid Polyneuropathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:2123470 PMID:3142462 PMID:4304452 PMID:25741868 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial amyloid polyneuropathy		 CTD
ClinVar		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1351039 More... RGD:1331525 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
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 term: Meretoja syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type III		 OMIM
CTD
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650 		JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 PMID:10798644 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A		 OMIM
CTD
ClinVar		 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 PMID:11004271 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO
ISS		 ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis
OMIM:105210
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1351039 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Nutritional and Metabolic Diseases 8217
      disease of metabolism 8217
        inherited metabolic disorder 6183
          Familial Amyloidosis 32
            Familial Amyloid Polyneuropathies 20
              lattice corneal dystrophy + 4
              transthyretin amyloidosis 13
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          neurodegenerative disease 4856
            Nervous System Heredodegenerative Disorders 3215
              Familial Amyloid Polyneuropathies 20
                lattice corneal dystrophy + 4
                transthyretin amyloidosis 13
paths to the root