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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 prolapse
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Accession:DOID:988 term browser browse the term
Definition:A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. (DO)
Synonyms:exact_synonym: Barlow syndrome;   Barlow's syndrome;   click murmur syndrome;   click-murmur syndromes;   floppy mitral valve;   floppy mitral valves;   mitral click murmur syndrome;   mitral valve prolapse syndrome;   mitral valve prolapses;   prolapsed mitral valve;   prolapsed mitral valves;   systolic click murmur syndrome
 related_synonym: mitral leaflet syndrome;   myxomatous mitral valve prolapse
 primary_id: MESH:D008945
 xref: NCI:C50655;   OMIM:PS157700


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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 IEA
IAGP		 associated with Marfan Syndrome;DNA:polymorphism,haplotype: GAD
RGD		 PMID:15118671 PMID:17379330 RGD:1331525, RGD:13432357 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AGT angiotensinogen severity IEA
IAGP		 associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) GAD
RGD		 PMID:15118671 PMID:17379330 RGD:1331525, RGD:13432357 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISS OMIM:157700 | OMIM:607829 | OMIM:610840 MouseDO NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DES desmin IEP protein:altered expression:;eft ventricule RGD PMID:27464577 RGD:13542088 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 ISS OMIM:157700 | OMIM:607829 | OMIM:610840 MouseDO NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Mitral valve prolapse ClinVar
RGD		 PMID:25741868 PMID:12918850 RGD:1580379 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FLNA filamin A IAGP DNA:missense mutation:cds:p.G288R (human) RGD PMID:24243761 RGD:11565119 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Graves Disease; DNA:polymorphism:cds:HLA-B15 (human) RGD PMID:8894996 RGD:7365110 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G LMCD1 LIM and cysteine rich domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26301497 NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25899461 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP RGD PMID:15262029 RGD:1580896 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP RGD PMID:10199795 RGD:1580775 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Mitral valve prolapse ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		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 IAGP
EXP		 ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		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 IAGP ClinVar Annotator: match by term: MASS syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35296718 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G FBN1 fibrillin 1 IAGP
EXP		 ClinVar Annotator: match by term: MASS syndrome
ClinVar Annotator: match by term: Overlap connective tissue disease
ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Overlap connective tissue disease ClinVar PMID:25741868 PMID:28492532 PMID:28659821 NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Overlap connective tissue disease
ClinVar Annotator: match by term: MASS syndrome		 ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Overlap connective tissue disease ClinVar PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: MASS syndrome ClinVar NCBI chr15:48,644,834...48,644,963 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 IAGP
EXP		 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 chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G LOC130005209 ATAC-STARR-seq lymphoblastoid active region 4351 IAGP ClinVar Annotator: match by term: DCHS1-related disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr11:6,622,473...6,622,542 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 IAGP
EXP		 ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:31118289 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706 		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 IAGP
EXP		 DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
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		 ClinVar
CTD
OMIM
RGD		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... RGD:11565121 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked		 ClinVar PMID:25741868 PMID:28492532 PMID:35000503 NCBI chr  X:154,335,912...154,349,572 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      cardiovascular system disease 6068
        heart disease 4436
          heart valve disease 1033
            Heart Valve Prolapse 24
              mitral valve prolapse 24
                Cantalamessa Baldini Ambrosi Syndrome 0
                Frank-Ter Haar syndrome 1
                MASS Syndrome 6
                Myxomatous Mitral Valve Prolapse 1 0
                Myxomatous Mitral Valve Prolapse 2 2
                Myxomatous Mitral Valve Prolapse 3 1
                X-linked cardiac valvular dysplasia 2
paths to the root