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
Accession: DOID:12932
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 .
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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
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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
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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
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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
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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
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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
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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 PMID:7951242 PMID:7981750 PMID:8112288 PMID:8301644 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 PMID:8857733 PMID:9040760 PMID:9122265 PMID:9158157 PMID:9536098 PMID:9566422 PMID:9736777 PMID:10051520 PMID:10360989 PMID:10430417 PMID:10467912 PMID:10533075 PMID:10644771 PMID:10665666 PMID:10690989 PMID:10962018 PMID:11408615 PMID:11840191 PMID:11933197 PMID:12390967 PMID:12566541 PMID:12661046 PMID:15162127 PMID:15786415 PMID:15980168 PMID:16770776 PMID:17107341 PMID:17576681 PMID:17654559 PMID:17932099 PMID:17990293 PMID:18220014 PMID:18263754 PMID:18337100 PMID:18337730 PMID:18807109 PMID:18816629 PMID:20301529 PMID:21204798 PMID:21221019 PMID:21387378 PMID:21698652 PMID:22094069 PMID:22109722 PMID:22197187 PMID:22407275 PMID:22521272 PMID:22641783 PMID:22649220 PMID:22790975 PMID:22995991 PMID:23097607 PMID:23113340 PMID:23152584 PMID:23516313 PMID:23739125 PMID:23810313 PMID:23893571 PMID:23933576 PMID:24033266 PMID:24037712 PMID:24064982 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:24625573 PMID:24920213 PMID:25036107 PMID:25065301 PMID:25088311 PMID:25438602 PMID:25741868 PMID:26042048 PMID:26096614 PMID:26260254 PMID:26467025 PMID:26471370 PMID:26502825 PMID:26510092 PMID:26633545 PMID:27142102 PMID:27199537 PMID:27266866 PMID:27296017 PMID:27300293 PMID:27415035 PMID:27614575 PMID:27884173 PMID:27927941 PMID:28325641 PMID:28403181 PMID:28427807 PMID:28492532 PMID:28662944 PMID:28993909 PMID:29050397 PMID:29606556 PMID:29790872 PMID:31130284 PMID:31544778 PMID:31589614 PMID:31692161 PMID:31732390 PMID:32010054 PMID:32117024 PMID:32117034 PMID:32355288 PMID:32528171 PMID:32660787 PMID:32670189 PMID:32721234 PMID:33013670 PMID:33263785 PMID:33573884 PMID:34008892 PMID:34106991 PMID:34418069 PMID:34426522 PMID:34529042 PMID:34790634 PMID:35350395 PMID:35907044 PMID:36796140 PMID:36964972 PMID:37091313 PMID:37273706 PMID:37712079 PMID:38055022 PMID:38374194 PMID:39031529 More...
NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:71,172,547...71,199,984
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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
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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
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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
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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
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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
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Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29122578
NCBI chr11:29,732,572...29,732,659
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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
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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
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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
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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
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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
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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
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