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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:endomyocardial fibrosis
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Accession:DOID:12932 term browser browse the term
Definition:A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).
Synonyms:exact_synonym: African endomyocardial fibrosis;   Becker's disease;   Endomyocardial Fibroses;   endomyocardial sclerosis;   obscure African cardiomyopathy
 primary_id: MESH:D004719
 xref: EFO:1000921;   GARD:6340;   ICD9CM:425.0;   NCI:C34585
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
endomyocardial fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP protein:increased activity:lung, heart left ventricle, plasma (rat) RGD PMID:12131554 RGD:8157600 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19221212 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14502278 NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20837116 PMID:25139994 PMID:25488910 PMID:27099261 PMID:30703374 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP RGD PMID:14967845 RGD:1581155 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccn2 cellular communication network factor 2 IEP
IDA
protein:increased expression:myocardium, cardiomyocyte (rat) RGD PMID:19293040 PMID:19902320 RGD:2314529, RGD:2314357 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Becker's disease ClinVar PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:71,172,547...71,199,984
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11300427 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:34310909 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:146,765,951...146,775,611
Ensembl chr 5:141,481,590...141,490,731
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30450786 PMID:36462176 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Klf15 KLF transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34310909 NCBI chr 4:124,522,652...124,535,613
Ensembl chr 4:122,965,807...122,978,374
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:29,732,572...29,732,659 JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr 1:205,982,279...205,987,361
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:46,785,852...46,800,179
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:34713381 NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,082,364...8,098,914
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450231 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:17184580 RGD:2306814 NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:161,450,846...161,456,237
JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:16919371 RGD:2306833 NCBI chr10:106,936,398...106,937,558
Ensembl chr10:106,438,092...106,439,252
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      cardiovascular system disease 5545
        heart disease 3477
          cardiomyopathy 1430
            endomyocardial fibrosis 19
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      respiratory system disease 5246
        thoracic disease 4051
          heart disease 3477
            cardiomyopathy 1430
              intrinsic cardiomyopathy 1019
                restrictive cardiomyopathy 53
                  endomyocardial fibrosis 19
paths to the root