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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;   RDO:0005490
 xref: 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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19221212 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Adrb1 adrenoceptor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14502278 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20837116, PMID:25139994, PMID:25488910, PMID:27099261, PMID:30703374 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP RGD PMID:14967845 RGD:1581155 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Becker's disease ClinVar PMID:7581380, PMID:8533761, PMID:8845168, PMID:8857727, PMID:10051520, PMID:10737121, PMID:10962018, PMID:12163078, PMID:12390967, PMID:23739125, PMID:24349310, PMID:25036107, PMID:25741868, PMID:25749817, PMID:26467025, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11300427 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:147,323,240...147,330,266
Ensembl chr 5:147,323,240...147,330,266
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30450786 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,097,346...16,097,433 JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:46,862,358...46,876,593
Ensembl chr12:46,868,416...46,876,592
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450231 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:17184580 RGD:2306814 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:16919371 RGD:2306833 NCBI chr10:110,364,291...110,365,451
Ensembl chr10:110,364,291...110,365,451
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            endomyocardial fibrosis 15
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            intrinsic cardiomyopathy 736
              restrictive cardiomyopathy 46
                endomyocardial fibrosis 15
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.