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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 insufficiency
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Accession:DOID:11502 term browser browse the term
Definition:Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.
Synonyms:exact_synonym: congenital insufficiency of mitral valve;   congenital mitral insufficiency;   congenital mitral regurgitation;   mitral incompetence;   mitral insufficiency;   mitral regurgitation;   mitral valve incompetence;   mitral valve regurgitation
 primary_id: MESH:D008944
 xref: ICD10CM:Q23.3;   ICD9CM:396.3;   ICD9CM:746.6;   NCI:C50852;   NCI:C50888
For additional species annotation, visit the Alliance of Genome Resources.


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mitral valve insufficiency term browser
Symbol Object Name 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
Complete Atrioventricular Septal Defect term browser
Symbol Object Name 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 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
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name 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

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
              mitral valve insufficiency 13
                Complete Atrioventricular Septal Defect 2
                Forney Robinson Pascoe Syndrome 1
                Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 1
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.