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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:mitral valve disease
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Accession:DOID:61 term browser browse the term
Synonyms:exact_synonym: Mitral RH valve dis.;   Rheumatic mitral insufficiency;   Rheumatic mitral valve changes;   Rheumatic mitral valve regurgitation;   chronic rheumatic mitral valve;   disease of mitral valve;   rheumatic disease of mitral valve;   rheumatic mitral valve incompetence
 primary_id: RDO:9002942
 xref: ICD10CM:I05;   ICD10CM:I05.1;   ICD9CM:394;   ICD9CM:394.1;   ICD9CM:424.0;   NCI:C78446
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mitral valve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:14765837 RGD:40400724 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
Complete Atrioventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Complete atrioventricular septal defect ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Complete atrioventricular septal defect ClinVar PMID:22035158, PMID:25445213, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:88,912,163...88,972,213 JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by OMIM:249420
OMIM
ClinVar
PMID:7158646, PMID:8484415, PMID:15523657, PMID:20137777, PMID:22509100, PMID:24105366, PMID:25741868, PMID:28492532, PMID:29276006 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
JBrowse link
MASS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Overlap connective tissue disease
ClinVar Annotator: match by term: MASS syndrome
ClinVar Annotator: match by OMIM:604308
OMIM
ClinVar
PMID:1569206, PMID:2005308, PMID:2739055, PMID:4750422, PMID:7802039, PMID:7870075, PMID:8653794, PMID:8723076, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12203987, PMID:12203992, PMID:12446365, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20375004, PMID:20564469, PMID:21542060, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23506379, PMID:23577066, PMID:23608731, PMID:23719250, PMID:23794388, PMID:24033266, PMID:24161884, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25326635, PMID:25504618, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:26272055, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26787436, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30048161, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31163209, PMID:31211626, PMID:31227806, PMID:31730815 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome ClinVar
OMIM
PMID:20186786, PMID:25741868, PMID:27426734, PMID:29467388, PMID:32105826 NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
mitral valve insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26301497 NCBI chr 4:144,192,989...144,252,554
Ensembl chr 4:144,192,989...144,252,551
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:22224630, PMID:22266370, PMID:22464770, PMID:23183350, PMID:23853504, PMID:24033266, PMID:24503780, PMID:24846508, PMID:25741868, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:30311386 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:30311386 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:25741868, PMID:29555671 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Mitral valve regurgitation ClinVar PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
mitral valve prolapse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity ISO associated with Marfan Syndrome;DNA:polymorphism,haplotype: GAD
RGD
PMID:15118671, PMID:17379330 RGD:1331525, RGD:13432357 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) GAD
RGD
PMID:15118671, PMID:17379330 RGD:1331525, RGD:13432357 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:30311386 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISS OMIM:157700 | OMIM:607829 | OMIM:610840 MouseDO NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
JBrowse link
G Des desmin ISO protein:altered expression:;eft ventricule RGD PMID:27464577 RGD:13542088 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868, PMID:30311386, PMID:12918850 RGD:1580379 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Flna filamin A ISO DNA:missense mutation:cds:p.G288R (human) RGD PMID:24243761 RGD:11565119 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26301497 NCBI chr 4:144,192,989...144,252,554
Ensembl chr 4:144,192,989...144,252,551
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25899461 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:15262029 RGD:1580896 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Graves Disease; DNA:polymorphisms:cds:HLA-B15 (human) RGD PMID:8894996 RGD:7365110
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:10199795 RGD:1580775 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:22335739, PMID:23975875, PMID:25589632, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
mitral valve stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:16155388 RGD:1598624 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Mitral stenosis ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
Myxomatous Mitral Valve Prolapse 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO OMIM NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
Myxomatous Mitral Valve Prolapse 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse 2
ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2
OMIM
ClinVar
PMID:12707861, PMID:25741868, PMID:26258302, PMID:28492532 NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
JBrowse link
SHONE COMPLEX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Shone complex ClinVar PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
ClinVar Annotator: match by OMIM:314400
OMIM
ClinVar
PMID:240645, PMID:1854572, PMID:8230166, PMID:9497244, PMID:16299064, PMID:17190868, PMID:17632775, PMID:24088041, PMID:25741868, PMID:26633545, PMID:26686323, PMID:26804200, PMID:27739212, PMID:28492532, PMID:29237676, PMID:30986657, PMID:17190868 RGD:11565121 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        heart disease 2667
          heart valve disease 414
            mitral valve disease 30
              SHONE COMPLEX 1
              mitral valve insufficiency + 13
              mitral valve prolapse + 19
              mitral valve stenosis 2
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.