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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:Heart Valve Prolapse
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Accession:DOID:9004382 term browser browse the term
Definition:Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure.
Synonyms:exact_synonym: Heart Valve Prolapses
 primary_id: MESH:D016127;   RDO:0004880
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
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:3495735 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 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-A1 RT1 class Ia, locus A1 ISO associated with Graves Disease; DNA:polymorphism:cds:HLA-B15 (human) RGD PMID:8894996 RGD:7365110 NCBI chr20:4,905,309...4,914,593 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 chr20:3,314,984...3,318,037 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...77,047,536
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:28492532 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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 1:160,104,931...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 3 OMIM
ClinVar
PMID:31118289 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
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)
OMIM
ClinVar
RGD
PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:16299064 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 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        heart disease 2705
          heart valve disease 391
            Heart Valve Prolapse 19
              aortic valve prolapse 0
              mitral valve prolapse + 19
              tricuspid valve prolapse 0
paths to the root