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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:cardiac amyloidosis
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Accession:DOID:9000299 term browser browse the term
Definition:This is a disease in which cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension.
Synonyms:exact_synonym: amyloid cardiomyopathy;   amyloid heart disease;   amyloid heart muscle disease;   amyloidosis of heart;   senile cardiac amyloidosis
 xref: EFO:1001984;   HP:0030843;   MP:0021148


show annotations for term's descendants           Sort by:
cardiac amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:8665505 PMID:9150150 PMID:9585613 PMID:9667259 PMID:10699917 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:11,774,711...11,831,868
Ensembl chr18:11,502,003...11,528,494 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:11,948,098...11,980,455
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:12,074,321...12,105,954
Ensembl chr18:11,798,900...11,830,818 		JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY 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: AMYLOID CARDIOMYOPATHY ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        Proteostasis Deficiencies 810
          amyloidosis 60
            cardiac amyloidosis 13
paths to the root