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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:dextrocardia
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Accession:DOID:9565 term browser browse the term
Definition:A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs.
Synonyms:exact_synonym: Dextrocardias;   heart predominantly in right hemithorax
 primary_id: MESH:D003914
 xref: GARD:1827;   ICD10CM:Q24.0;   NCI:C84669

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dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:26531781 NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624829:2,568,865...2,634,268
Ensembl chrNW_004624829:2,568,763...2,633,780 		JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624865:4,461,200...4,591,309
Ensembl chrNW_004624865:4,461,215...4,588,836 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823 		JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004624743:1,339,650...1,383,883 JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,732,068...10,837,678
Ensembl chrNW_004624808:10,738,181...10,851,641 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,320,388...10,464,081
Ensembl chrNW_004624808:10,319,793...10,465,514 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,652,817...10,658,434
Ensembl chrNW_004624808:10,652,776...10,658,498 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:9,950,331...9,960,019
Ensembl chrNW_004624808:9,951,202...9,953,971 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,634,919...10,648,734
Ensembl chrNW_004624808:10,634,597...10,648,892 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,887,555...10,921,217 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,176,695...10,185,847
Ensembl chrNW_004624808:10,176,293...10,182,079 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:11,107,125...11,157,913 JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004624808:10,590,328...10,611,775 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia OMIM
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO MouseDO NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO MouseDO NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756 		JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO MouseDO NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISO MouseDO NCBI chrNW_004624843:2,058,443...2,105,646
Ensembl chrNW_004624843:2,058,330...2,108,045 		JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 PMID:28492532 NCBI chrNW_004624746:3,412,888...3,441,710 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968 		JBrowse link
G Dnaaf19 dynein axonemal assembly factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chrNW_004624795:404,102...407,025
Ensembl chrNW_004624795:404,068...406,979 		JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505 		JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO CTD Direct Evidence: marker/mechanism MouseDO
CTD		 PMID:22387996 NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793 		JBrowse link
G Dnah1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 PMID:28492532 PMID:32719396 NCBI chrNW_004624822:4,818,972...4,882,076
Ensembl chrNW_004624822:4,819,019...4,878,438 		JBrowse link
G Dnah11 dynein axonemal heavy chain 11 susceptibility ISO DNA:nonsense mutation, missense mutation:R2852X, R3004Q RGD
MouseDO		 PMID:12142464 RGD:734893 NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815 		JBrowse link
G Dnah5 dynein axonemal heavy chain 5 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome		 RGD
ClinVar		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome		 RGD
ClinVar		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 More... RGD:1601083 NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097 		JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 ISO MouseDO NCBI chrNW_004624801:4,252,779...4,284,432
Ensembl chrNW_004624801:4,252,814...4,280,227 		JBrowse link
G Dnal1 dynein axonemal light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chrNW_004624734:27,844,412...27,885,770
Ensembl chrNW_004624734:27,854,031...27,885,696 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25741868 NCBI chrNW_004624738:8,540,863...8,599,386
Ensembl chrNW_004624738:8,541,063...8,599,491 		JBrowse link
G Foxj1 forkhead box J1 ISO MouseDO NCBI chrNW_004624801:6,025,756...6,030,487
Ensembl chrNW_004624801:6,025,793...6,030,486 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chrNW_004624832:5,439,764...5,460,822 JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chrNW_004624805:6,192,843...6,365,982
Ensembl chrNW_004624805:6,193,217...6,362,776 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chrNW_004624828:3,207,935...3,218,795
Ensembl chrNW_004624828:3,208,153...3,218,637 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chrNW_004624763:7,068,000...7,071,752
Ensembl chrNW_004624763:7,068,012...7,071,799 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chrNW_004624745:28,009,028...28,020,007
Ensembl chrNW_004624745:28,008,959...28,021,529 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chrNW_004624798:13,022,429...13,046,836
Ensembl chrNW_004624798:13,023,982...13,046,116 		JBrowse link
G Slit2 slit guidance ligand 2 ISO MouseDO NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More... NCBI chrNW_004624763:7,074,468...7,141,388
Ensembl chrNW_004624763:7,082,692...7,140,453 		JBrowse link
G Zmynd10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chrNW_004624730:4,190,706...4,195,003
Ensembl chrNW_004624730:4,190,633...4,194,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    Developmental Disease 12414
      congenital heart disease 1297
        dextrocardia 47
          Aughton Syndrome 0
          Congenital Heart Defects, Multiple Types, 1, X-Linked 12
          Kartagener syndrome 29
          Kennerknecht Sorgo Oberhoffer Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      Immune & Inflammatory Diseases 4766
        immune system disease 4149
          lymphatic system disease 1560
            splenic disease 145
              visceral heterotaxy 111
                situs inversus 68
                  dextrocardia 47
                    Aughton Syndrome 0
                    Congenital Heart Defects, Multiple Types, 1, X-Linked 12
                    Kartagener syndrome 29
                    Kennerknecht Sorgo Oberhoffer Syndrome 0
paths to the root