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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;   chronic rheumatic mitral valve;   disease of mitral valve;   rheumatic disease of mitral valve;   rheumatic mitral valve changes;   rheumatic mitral valve incompetence;   rheumatic mitral valve regurgitation
 xref: EFO:0009557;   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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ift88 intraflagellar transport 88 ISS MouseDO NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) RGD PMID:26813460 RGD:11537145 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay		 OMIM
CTD
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
MASS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: MASS syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35296718 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 DNA:missense mutations, deletions:CDS:multiple (human)
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome		 OMIM
ClinVar
RGD		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... RGD:11552967 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
mitral valve insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Mitral regurgitation ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Mitral regurgitation ClinVar PMID:16571647 PMID:16905551 PMID:17657824 PMID:17701892 PMID:19349279 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Mitral regurgitation ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26301497 NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISS OMIM:157700 | OMIM:607829 | OMIM:610840 MouseDO NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Des desmin ISO protein:altered expression:;eft ventricule RGD PMID:27464577 RGD:13542088 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISS OMIM:157700 | OMIM:607829 | OMIM:610840 MouseDO NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar
RGD		 PMID:25741868 PMID:12918850 RGD:1580379 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Flna filamin A ISO DNA:missense mutation:cds:p.G288R (human) RGD PMID:24243761 RGD:11565119 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26301497 NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25899461 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:15262029 RGD:1580896 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		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 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO RGD PMID:10199795 RGD:1580775 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		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: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12707861 PMID:17576681 PMID:25741868 PMID:26258302 More... NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
Myxomatous Mitral Valve Prolapse 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:31118289 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked ClinVar PMID:10330348 PMID:12815592 PMID:19691550 PMID:21665257 PMID:23807571 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... RGD:11565121 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      thoracic disease 4049
        heart disease 3473
          heart valve disease 544
            mitral valve disease 26
              SHONE COMPLEX 1
              mitral annular calcification 0
              mitral valve insufficiency + 5
              mitral valve prolapse + 19
              mitral valve stenosis 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        thoracic disease 4049
          heart disease 3473
            heart valve disease 544
              mitral valve disease 26
                SHONE COMPLEX 1
                mitral annular calcification 0
                mitral valve insufficiency + 5
                mitral valve prolapse + 19
                mitral valve stenosis 1
paths to the root