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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:restrictive cardiomyopathy
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Accession:DOID:397 term browser browse the term
Definition:An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)
Synonyms:exact_synonym: RCM;   constrictive cardiomyopathy;   primary restrictive cardiomyopathy;   restrictive cardiomyopathies
 narrow_synonym: Non-familial restrictive cardiomyopathy;   familial restrictive cardiomyopathy
 primary_id: MESH:D002313
 xref: EFO:0002630;   EFO:1001473;   ICD10CM:I42.5;   MIM:PS115210;   NCI:C62798;   ORDO:217632;   ORDO:75249
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
restrictive cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:9536098 PMID:10528865 PMID:17576681 PMID:18414213 PMID:19562689 More... NCBI chr19:68,781,168...68,784,194
Ensembl chr19:68,781,168...68,786,178 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:121,266,291...121,271,827
Ensembl chr 3:121,266,291...121,271,827 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) RGD PMID:19381071 RGD:2314513 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Des desmin ISO RGD PMID:11298680 RGD:1580290 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:14695533 PMID:15643612 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11063735 PMID:16628197 PMID:21636032 PMID:24033266 PMID:25741868 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29212899 PMID:29650767 PMID:30260051 More... NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240 		JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:11593045 RGD:1302548 NCBI chr10:46,107,639...46,128,986
Ensembl chr10:46,106,548...46,129,004 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:11593045 RGD:1302548 NCBI chr10:95,872,747...95,987,747
Ensembl chr10:95,872,546...95,987,721 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO RGD PMID:11593045 RGD:1302548 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,751,357...6,812,294 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11861413 PMID:12707239 PMID:15358028 PMID:15483641 PMID:15769782 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:24111713 PMID:25132132 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:119,616,868...119,623,216 		JBrowse link
G Myoz2 myozenin 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:213,826,052...213,852,778
Ensembl chr 2:213,826,052...213,852,914 		JBrowse link
G Mypn myopalladin ISS
ISO 		OMIM:115210 | OMIM:609578 | OMIM:612422 | OMIM:615248
ClinVar Annotator: match by term: Restrictive cardiomyopathy 		MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:30775854 PMID:31568572 NCBI chr20:25,435,554...25,521,149
Ensembl chr20:25,435,554...25,521,149 		JBrowse link
G Pdlim3 PDZ and LIM domain 3 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr16:53,085,020...53,116,495
Ensembl chr16:53,085,020...53,116,217 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkcd protein kinase C, delta IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle RGD PMID:9458880 RGD:1642535 NCBI chr16:5,775,681...5,806,122
Ensembl chr16:5,775,681...5,805,839 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO
ISS 		ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy
OMIM:115210
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:9241277 PMID:10098965 PMID:11735257 PMID:11815426 PMID:12531876 More... RGD:1580419 NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,349,035...78,359,394
Ensembl chr 1:78,349,035...78,359,394 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar
RGD		 PMID:7898523 PMID:10525521 PMID:10978365 PMID:11606294 PMID:12818575 More... RGD:1580232 NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:15916825 RGD:1580820 NCBI chr16:65,466,552...65,602,951
Ensembl chr16:65,456,254...65,602,951 		JBrowse link
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 chr10:91,409,819...91,430,942 		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:33,925,458...33,971,596 		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 1:265,766,079...265,849,237 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:25139994 PMID:25488910 PMID:27099261 PMID:30703374 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		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 chr10:67,503,077...67,504,875 		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 1:22,621,501...22,624,976 		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 9:54,866,632...54,903,232 		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 4:152,060,780...152,073,627 		JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:146,751,416...146,778,540 		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 1:50,526,878...50,615,265 		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 4:124,522,909...124,542,373 		JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,245,620...16,245,707 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 1:205,982,258...205,987,359 		JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:46,785,852...46,800,179
Ensembl chr12:46,791,898...46,800,173 		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 7:8,732,974...8,738,542 		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 1:90,324,046...90,340,899 		JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:17184580 RGD:2306814 NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:166,733,671...166,739,059 		JBrowse link
G Uts2r urotensin 2 receptor IMP RGD PMID:16919371 RGD:2306833 NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,932,325...106,938,056 		JBrowse link
familial restrictive cardiomyopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:21920752 PMID:23194663 PMID:26627873 PMID:28492532 PMID:28493373 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:28492532 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:08673105 PMID:17142342 PMID:22131351 PMID:22958901 PMID:23054336 More... NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:119,616,868...119,623,216 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3144325 PMID:3349559 PMID:9241277 PMID:9536098 PMID:10098965 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,349,035...78,359,394
Ensembl chr 1:78,349,035...78,359,394 		JBrowse link
familial restrictive cardiomyopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2003160 PMID:2946667 PMID:7898523 PMID:7981753 PMID:8205619 More... NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125 		JBrowse link
familial restrictive cardiomyopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 | ClinVar Annotator: match by term: KIF20A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29357359 NCBI chr18:26,504,422...26,512,908
Ensembl chr18:26,504,072...26,512,909 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 ClinVar PMID:25741868 NCBI chr13:97,543,772...97,579,742
Ensembl chr13:97,560,820...97,579,737 		JBrowse link
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:24033266 PMID:25741868 PMID:28074886 PMID:28492532 NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:33,954,308...33,958,365 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 OMIM
ClinVar		 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:10722117 PMID:11939509 PMID:24115288 PMID:25741868 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 ClinVar PMID:25741868 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      thoracic disease 4057
        heart disease 3483
          cardiomyopathy 1441
            intrinsic cardiomyopathy 1027
              restrictive cardiomyopathy 54
                Loeffler endocarditis 0
                endomyocardial fibrosis 18
                familial restrictive cardiomyopathy 1 6
                familial restrictive cardiomyopathy 2 0
                familial restrictive cardiomyopathy 3 1
                familial restrictive cardiomyopathy 6 2
                hypertrophic cardiomyopathy 26 4
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            cardiomyopathy 1441
              intrinsic cardiomyopathy 1027
                restrictive cardiomyopathy 54
                  Loeffler endocarditis 0
                  endomyocardial fibrosis 18
                  familial restrictive cardiomyopathy 1 6
                  familial restrictive cardiomyopathy 2 0
                  familial restrictive cardiomyopathy 3 1
                  familial restrictive cardiomyopathy 6 2
                  hypertrophic cardiomyopathy 26 4
paths to the root