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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


show annotations for term's descendants           Sort by:
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:26531781 NCBI chr18:74,416,171...74,493,055
Ensembl chr18:74,416,161...74,493,057 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:160,500,032...160,562,490
Ensembl chr  X:160,500,065...160,562,492 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824 		JBrowse link
G Supt16 SPT16, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873 		JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr13:92,624,257...92,667,318
Ensembl chr13:92,623,616...92,667,376 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		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 chr  X:55,939,594...56,025,719
Ensembl chr  X:55,915,523...56,046,918 		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 chr  X:56,276,845...56,384,119
Ensembl chr  X:56,276,845...56,384,089 		JBrowse link
G Brs3 bombesin-like receptor 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 chr  X:56,088,434...56,094,118
Ensembl chr  X:56,088,434...56,094,118 		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 chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		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 chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		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 chr  X:56,542,028...56,549,117
Ensembl chr  X:56,542,028...56,549,117 		JBrowse link
G Htatsf1 HIV 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 chr  X:56,098,930...56,112,543
Ensembl chr  X:56,098,943...56,112,543 		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 chr  X:55,840,193...55,867,866
Ensembl chr  X:55,843,218...55,867,686 		JBrowse link
G Rbmx RNA binding motif protein, X chromosome ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 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 chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		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 chr  X:56,133,466...56,151,900
Ensembl chr  X:56,133,466...56,151,900 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit IAGP MouseDO NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr11:102,772,050...102,776,042
Ensembl chr11:102,772,030...102,776,042 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 IAGP MouseDO NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome		 CTD
ClinVar		 PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More... NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Daw1 dynein assembly factor with WDR repeat domains 1 IAGP MouseDO NCBI chr 1:83,136,610...83,188,298
Ensembl chr 1:83,137,473...83,188,295 		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 chr 8:120,301,974...120,325,193
Ensembl chr 8:120,301,974...120,325,193 		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 chr15:66,251,707...66,372,769
Ensembl chr15:66,251,707...66,372,759 		JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203 		JBrowse link
G Dnaaf3 dynein, axonemal assembly factor 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22387996 NCBI chr 7:4,525,932...4,535,487
Ensembl chr 7:4,525,932...4,535,452 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility IAGP
ISO		 DNA:nonsense mutation, missense mutation:R2852X, R3004Q MouseDO
RGD		 PMID:12142464 RGD:734893 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
IAGP		 DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome		 ClinVar
MouseDO
RGD		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO
IAGP		 DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 More... RGD:1601083 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158 		JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 IAGP MouseDO NCBI chr11:114,614,634...114,648,715
Ensembl chr11:114,618,234...114,648,715 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr12:84,161,057...84,190,291
Ensembl chr12:84,161,140...84,194,272 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome		 CTD
ClinVar
MouseDO		 PMID:23354437 PMID:25741868 NCBI chr 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		JBrowse link
G Foxj1 forkhead box J1 IAGP MouseDO NCBI chr11:116,221,530...116,226,331
Ensembl chr11:116,221,530...116,226,225 		JBrowse link
G Gm572 predicted gene 572 IAGP MouseDO NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		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 chr 7:45,572,591...45,598,387
Ensembl chr 7:45,573,496...45,598,387 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 IAGP
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr18:7,088,233...7,298,272
Ensembl chr18:7,088,209...7,297,936 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 IAGP
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chr 9:21,901,167...21,914,268
Ensembl chr 9:21,901,167...21,913,930 		JBrowse link
G Polr2k polymerase (RNA) II (DNA directed) polypeptide K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr15:36,174,156...36,177,158
Ensembl chr15:36,174,156...36,177,156 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) 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 chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017 		JBrowse link
G Slit2 slit guidance ligand 2 IAGP MouseDO NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		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 chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		JBrowse link
G Zmynd10 zinc finger, MYND domain containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    Developmental Disease 17912
      congenital heart disease 1353
        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 18302
    disease of anatomical entity 15634
      Immune & Inflammatory Diseases 5179
        immune system disease 4471
          lymphatic system disease 1640
            splenic disease 157
              visceral heterotaxy 112
                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